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 THSD7A 221981 broad.mit.edu 37 7 11582732 11582732 + Missense_Mutation SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:11582732A>G ENST00000423059.4 - 5 1717 c.1466T>C c.(1465-1467)aTg>aCg p.M489T NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 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) TTTTAAGTCCATTGGCTTTGA 0.383000 HNSCC(18;0.044) 20 21 0 0 1 0 0 FTHL17 53940 broad.mit.edu 37 X 31089818 31089818 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:31089818C>A ENST00000359202.3 - 1 352 c.253G>T c.(253-255)Gat>Tat p.D85Y NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 85 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 TTCCTGATATCGTGAAGGCAG 0.597000 21 31 2.4624e-09 2.5835e-09 1 1 0 TRGV4 6977 broad.mit.edu 37 7 38393558 38393558 + RNA SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:38393558C>T ENST00000390345.2 - 0 445 CAAGTGATTTCAGCAGATGAC 0.488000 24 6 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37725073 37725073 + Silent SNP G G T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr5:37725073G>T ENST00000265107.4 + 16 1791 c.1635G>T c.(1633-1635)cgG>cgT p.R545R NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 545 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCGCCAACGGAGTACAAGGA 0.473000 6 113 0.0215528 0.0217225 1 1 0 ZNF93 81931 broad.mit.edu 37 19 20044676 20044676 + Missense_Mutation SNP G G C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:20044676G>C ENST00000343769.5 + 4 940 c.912G>C c.(910-912)aaG>aaC p.K304N AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 304 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 CTAAACATAAGAAAATTCATA 0.368000 29 38 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75979679 75979679 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:75979679G>A ENST00000308508.5 - 3 3819 c.3727C>T c.(3727-3729)Cgg>Tgg p.R1243W NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1243 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (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 TTCTTGTGCCGGACCAGCTTC 0.617000 13 83 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64956166 64956166 + Nonsense_Mutation SNP G G T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:64956166G>T ENST00000527323.1 + 9 1354 c.1114G>T c.(1114-1116)Gaa>Taa p.E372* CAPN1_ENST00000279247.6_Nonsense_Mutation_p.E372*|CAPN1_ENST00000533820.1_Nonsense_Mutation_p.E372*|CAPN1_ENST00000524773.1_Nonsense_Mutation_p.E372*|CAPN1_ENST00000533129.1_Nonsense_Mutation_p.E372* P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 372 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CACACTCTACGAAGGCACCTG 0.657000 10 5 2.17888e-05 2.26745e-05 1 1 0 PCNT 5116 broad.mit.edu 37 21 47841947 47841947 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr21:47841947C>T ENST00000359568.5 + 32 7195 c.7088C>T c.(7087-7089)gCt>gTt p.A2363V PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2363 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) GCTCAAACTGCTGGTCCTGTG 0.597000 15 26 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806092 1806092 + Missense_Mutation SNP A A T rs121913484 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr4:1806092A>T ENST00000340107.4 + 9 1373 c.1117A>T c.(1117-1119)Agt>Tgt p.S373C FGFR3_ENST00000481110.2_Missense_Mutation_p.S371C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.S371C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S371C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 371 Y -> C (in KERSEB and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S371C(55) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CGAGGCGGGCAGTGTGTATGC 0.682000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 83 9 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14358374 14358374 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr5:14358374C>T ENST00000344204.4 + 12 2158 c.2134C>T c.(2134-2136)Cgc>Tgc p.R712C TRIO_ENST00000537187.1_Missense_Mutation_p.R712C|TRIO_ENST00000509967.2_Missense_Mutation_p.R663C NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 712 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|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCTCATCAAGCGCTTTGGCCA 0.632000 18 28 0 0 1 0 0 PAFAH1B3 5050 broad.mit.edu 37 19 42804381 42804381 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:42804381C>T ENST00000538771.1 - 4 583 c.227G>A c.(226-228)gGc>gAc p.G76D PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.G76D NM_001145939.1|NM_001145940.1 NP_001139411.1|NP_001139412.1 Q15102 PA1B3_HUMAN platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) 76 lipid catabolic process|nervous system development cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding breast(1)|large_intestine(2)|ovary(1) 4 Prostate(69;0.0704) ATGCTGTGTGCCGTCACCACC 0.577000 3 43 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790298 80790298 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:80790298C>A ENST00000269394.3 - 2 866 c.33G>T c.(31-33)aaG>aaT p.K11N TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 11 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGTAATGTGGCTTTTTTGGCT 0.478000 18 25 6.49762e-13 7.16979e-13 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50455159 50455159 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:50455159C>A ENST00000331340.3 + 6 861 c.706C>A c.(706-708)Ctg>Atg p.L236M IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L149M|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.L149M|IKZF1_ENST00000357364.4_Intron 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) 236 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131)|p.L236V(1) 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) TCCGGGCACACTGTACCCAGG 0.582000 """D,T""" BCL6 """ALL, DLBCL""" 9 9 0.000442599 0.000453222 1 1 0 ALG10 84920 broad.mit.edu 37 12 34179787 34179787 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr12:34179787C>A ENST00000266483.2 + 3 1678 c.1359C>A c.(1357-1359)ttC>ttA p.F453L RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 453 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TAACTTTTTTCATCTTTCTGA 0.358000 57 61 8.44121e-28 9.47785e-28 1 1 0 RAVER1 125950 broad.mit.edu 37 19 10431736 10431736 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:10431736C>T ENST00000293677.6 - 8 1593 c.1512G>A c.(1510-1512)ccG>ccA p.P504P NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 513 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CAGGGGGCGTCGGCAGAGGCC 0.721000 3 4 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30693204 30693204 + Missense_Mutation SNP C C T rs79671818 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:30693204C>T ENST00000471646.1 - 12 1525 c.1108G>A c.(1108-1110)Gtg>Atg p.V370M CRHR2_ENST00000341843.4_Missense_Mutation_p.V356M|CRHR2_ENST00000348438.4_Missense_Mutation_p.V397M|CRHR2_ENST00000506074.2_3'UTR NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 370 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCTTCCTCACGGCTGAGCGC 0.637000 8 24 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219255980 219255980 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:219255980C>T ENST00000233202.6 + 10 1354 c.1014C>T c.(1012-1014)aaC>aaT p.N338N SLC11A1_ENST00000539932.1_Silent_p.N220N NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 338 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) CCATGAACAACGCCACCGTGG 0.632000 9 17 0 0 1 0 0 CENPM 79019 broad.mit.edu 37 22 42341967 42341967 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr22:42341967C>T ENST00000402338.1 - 2 319 c.78G>A c.(76-78)cgG>cgA p.R26R CENPM_ENST00000404067.1_Silent_p.R26R|CENPM_ENST00000215980.5_Silent_p.R60R|CENPM_ENST00000407253.3_Silent_p.R60R|CENPM_ENST00000402420.1_Silent_p.R26R Q9NSP4 CENPM_HUMAN centromere protein M 60 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus kidney(1)|large_intestine(1)|prostate(1) 3 CAATTCGGGGCCGATTCACAC 0.542000 8 10 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880461 12880461 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:12880461C>T ENST00000155926.4 + 3 1992 c.573C>T c.(571-573)gtC>gtT p.V191V TRIB2_ENST00000381465.2_Silent_p.V55V NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 191 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GGACTCGGGTCAAGCTGGAAA 0.512000 29 35 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81444997 81444997 + RNA SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr10:81444997T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAACAATTTTCGGGCTTGCA 0.612000 3 5 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 520828 520828 + Splice_Site SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr4:520828C>T ENST00000453061.2 + 10 2176 c.2070C>T c.(2068-2070)agC>agT p.S690S PIGG_ENST00000504346.1_Splice_Site_p.S601S|PIGG_ENST00000310340.5_Splice_Site_p.S682S|PIGG_ENST00000383028.4_Splice_Site_p.S557S|PIGG_ENST00000296306.7_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 690 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CTCATTTCAGCTCTGACCACA 0.498000 4 11 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321172 78321172 + Missense_Mutation SNP A A T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:78321172A>T ENST00000582970.1 + 29 9180 c.9037A>T c.(9037-9039)Agc>Tgc p.S3013C RNF213_ENST00000508628.2_Missense_Mutation_p.S3062C|RNF213_ENST00000336301.6_Missense_Mutation_p.S1086C 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) AGAGGAAGTCAGCCCCATGCA 0.537000 14 15 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27303613 27303613 + Missense_Mutation SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr10:27303613C>G ENST00000376087.4 - 31 4699 c.4534G>C c.(4534-4536)Gag>Cag p.E1512Q ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1528Q|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1069Q NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1511 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CTAAACTGCTCTAAGTTTTCT 0.333000 13 28 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108850 147108850 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:147108850G>A ENST00000383075.3 - 4 1384 c.872C>T c.(871-873)tCg>tTg p.S291L ZIC4_ENST00000484399.1_Missense_Mutation_p.S291L|ZIC4_ENST00000473123.1_Missense_Mutation_p.S291L|ZIC4_ENST00000525172.2_Missense_Mutation_p.S341L|ZIC4_ENST00000425731.3_Missense_Mutation_p.S329L|ZIC4_ENST00000491672.1_Missense_Mutation_p.S85L|ZIC4_ENST00000472749.2_5'UTR NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 291 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GGGCGGCGGCGAGCGCCCGTG 0.672000 27 23 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839534 128839534 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:128839534G>A ENST00000310343.9 - 22 5531 c.5532C>T c.(5530-5532)ggC>ggT p.G1844G ARHGAP32_ENST00000527272.1_Silent_p.G1495G|ARHGAP32_ENST00000392657.3_Silent_p.G1495G|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1844 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TGCTACCATGGCCTCCGTGAT 0.617000 14 18 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57270934 57270934 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:57270934G>A ENST00000262293.4 + 5 796 c.484G>A c.(484-486)Gtt>Att p.V162I NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 162 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCCTGCCTGCGTTCTGATCAC 0.527000 20 26 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162697158 162697158 + Missense_Mutation SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr4:162697158A>G ENST00000306100.5 - 5 914 c.478T>C c.(478-480)Tat>Cat p.Y160H FSTL5_ENST00000379164.4_Missense_Mutation_p.Y159H|FSTL5_ENST00000427802.2_Missense_Mutation_p.Y159H|FSTL5_ENST00000536695.1_Missense_Mutation_p.Y159H NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 160 extracellular region calcium ion binding 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) TGCATAATATATTTTTGATTT 0.308000 8 25 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256915 140256915 + Missense_Mutation SNP A A T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr5:140256915A>T ENST00000398631.2 + 1 1858 c.1858A>T c.(1858-1860)Atc>Ttc p.I620F PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018903.2|NM_031864.2 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) CGGCGCGCACATCCCGTTCCA 0.672000 33 44 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007522 93007522 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:93007522G>A ENST00000268164.3 + 6 1272 c.1035G>A c.(1033-1035)ccG>ccA p.P345P ST8SIA2_ENST00000539113.1_Silent_p.P324P NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 345 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) AGGCCAGCCCGCATACCATGC 0.572000 5 89 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29911264 29911264 + Missense_Mutation SNP G G A rs41552712 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr6:29911264G>A ENST00000396634.1 + 5 904 c.563G>A c.(562-564)tGc>tAc p.C188Y HLA-A_ENST00000376802.2_Missense_Mutation_p.C188Y|HLA-A_ENST00000376806.5_Missense_Mutation_p.C188Y|HLA-A_ENST00000376809.5_Missense_Mutation_p.C188Y P30443 1A01_HUMAN major histocompatibility complex, class I, A 188 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 GATGGCACGTGCGTGGAGTGG 0.667000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 24 19 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115218586 115218586 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:115218586C>A ENST00000369538.3 - 10 1561 c.1514G>T c.(1513-1515)gGa>gTa p.G505V AMPD1_ENST00000520113.2_Missense_Mutation_p.G509V|AMPD1_ENST00000353928.6_Missense_Mutation_p.G476V NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 476 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) CAGCATTTTTCCAAAATGTGG 0.433000 36 53 2.04263e-09 2.1608e-09 1 1 0 PDS5A 23244 broad.mit.edu 37 4 39851142 39851142 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr4:39851142C>T ENST00000303538.8 - 27 3756 c.3217G>A c.(3217-3219)Gaa>Aaa p.E1073K NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 1073 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CATCTTACTTCATTTGTCTTG 0.358000 16 28 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72608881 72608881 + Missense_Mutation SNP C C T rs113824696 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:72608881C>T ENST00000392619.1 - 4 645 c.610G>A c.(610-612)Gtg>Atg p.V204M CD300E_ENST00000426295.2_Missense_Mutation_p.V218M|CD300E_ENST00000328630.3_Missense_Mutation_p.V177M NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 177 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 AGAAGGACCACGAGCAGGAAG 0.612000 25 33 0 0 1 0 0 PSMB2 5690 broad.mit.edu 37 1 36068948 36068948 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:36068948G>A ENST00000373237.3 - 6 937 c.526C>T c.(526-528)Cca>Tca p.P176S NM_002794.4 NP_002785.1 P49721 PSB2_HUMAN proteasome (prosome, macropain) subunit, beta type, 2 176 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|interspecies interaction between organisms|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 cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|large_intestine(2) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) Bortezomib(DB00188) CTGAAGGTTGGCAGATTCAGG 0.458000 12 19 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51943210 51943210 + Missense_Mutation SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr13:51943210C>G ENST00000311234.4 - 16 2813 c.2341G>C c.(2341-2343)Gaa>Caa p.E781Q INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000425000.1_Missense_Mutation_p.E349Q|INTS6_ENST00000490542.1_Missense_Mutation_p.E465Q|INTS6_ENST00000398119.2_Missense_Mutation_p.E768Q|INTS6_ENST00000497989.1_Missense_Mutation_p.E603Q NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 781 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GCACATTGTTCTTTATCTCTT 0.408000 45 53 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135126623 135126623 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:135126623T>C ENST00000370695.4 + 16 1881 c.1846T>C c.(1846-1848)Ttg>Ctg p.L616L SLC9A6_ENST00000370701.1_Silent_p.L564L|SLC9A6_ENST00000370698.3_Silent_p.L584L NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 584 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CCAGGAACAGTTGAAAGATGA 0.383000 15 17 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211540510 211540510 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:211540510C>T ENST00000233072.5 + 36 4416 c.4220C>T c.(4219-4221)cCa>cTa p.P1407L CPS1_ENST00000451903.2_Missense_Mutation_p.P956L|CPS1_ENST00000430249.2_Missense_Mutation_p.P1413L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1407 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) CCTGCCACCCCAGTGGCATGG 0.443000 15 14 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:78212571G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGTGTCACGTGTGCGTTCA 0.572000 4 57 0 0 1 0 0 NPIPA8 101059953 broad.mit.edu 37 16 18434447 18434447 + Translation_Start_Site SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr16:18434447C>A ENST00000339303.5 - 0 1856 nuclear pore complex interacting protein family, member A8 GGCGGGGGCCCTGCTGAAAGC 0.627000 14 0 4.14922e-12 4.50085e-12 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 40 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512313 61512313 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr20:61512313G>A ENST00000266070.4 - 16 5320 c.4995C>T c.(4993-4995)tgC>tgT p.C1665C DIDO1_ENST00000395343.1_Silent_p.C1665C NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1665 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) GCAGGGCGCCGCAAGGCGGTG 0.731000 3 24 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202070617 202070617 + Missense_Mutation SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:202070617C>G ENST00000286186.6 + 7 1169 c.734C>G c.(733-735)aCa>aGa p.T245R CASP10_ENST00000313728.7_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000272879.5_Missense_Mutation_p.T245R|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000360132.3_Intron NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 245 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 AACAGAGCCACAAATGGTGCA 0.433000 11 15 0 0 1 0 0 TNFSF9 8744 broad.mit.edu 37 19 6534930 6534930 + Silent SNP G G C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:6534930G>C ENST00000245817.3 + 3 656 c.618G>C c.(616-618)ctG>ctC p.L206L NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 206 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGCTGCACCTGAGTGCCGGCC 0.697000 5 13 0 0 1 0 0 TREH 11181 broad.mit.edu 37 11 118534104 118534104 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:118534104G>A ENST00000529101.1 - 2 179 c.134C>T c.(133-135)gCc>gTc p.A45V TREH_ENST00000264029.4_Missense_Mutation_p.A45V|TREH_ENST00000525958.1_Missense_Mutation_p.A45V|TREH_ENST00000530256.1_Intron|TREH_ENST00000397925.1_Missense_Mutation_p.A45V O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 45 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) GTAGAGCTTGGCCATTTGAAC 0.532000 10 5 0 0 1 0 0 CDC25A 993 broad.mit.edu 37 3 48226163 48226163 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:48226163C>T ENST00000302506.3 - 3 678 c.270G>A c.(268-270)ggG>ggA p.G90G CDC25A_ENST00000351231.3_Silent_p.G90G NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 90 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TGTCCAATGGCCCAGGAGAAT 0.284000 6 21 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34356162 34356162 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:34356162C>T ENST00000383263.5 + 3 1914 c.1244C>T c.(1243-1245)aCg>aTg p.T415M CHRM5_ENST00000557872.1_Missense_Mutation_p.T415M NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 415 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GAACCTTCAACGAAAGGCCTC 0.522000 11 61 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43471655 43471655 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:43471655C>T ENST00000039989.4 + 20 2824 c.2810C>T c.(2809-2811)gCc>gTc p.A937V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 937 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ATAGATTTTGCCACCCCTATA 0.473000 4 87 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88411995 88411995 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr14:88411995G>A ENST00000261304.2 - 14 1678 c.1572C>T c.(1570-1572)ggC>ggT p.G524G GALC_ENST00000393568.4_Silent_p.G501G|GALC_ENST00000544807.2_Silent_p.G468G|GALC_ENST00000393569.2_Silent_p.G498G NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 524 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGTGATGCTCGCCAGGGTCTT 0.408000 34 44 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101756675 101756675 + Missense_Mutation SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr13:101756675C>G ENST00000251127.6 - 25 2941 c.2860G>C c.(2860-2862)Ggt>Cgt p.G954R NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 954 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) ATTACTCCACCGAAGTCCCTG 0.348000 26 38 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154787 100154787 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:100154787C>T ENST00000263174.4 + 7 1346 c.971C>T c.(970-972)cCg>cTg p.P324L PALMD_ENST00000605497.1_Missense_Mutation_p.P324L NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 324 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) AGTCCCATTCCGCCAGTGCCT 0.453000 24 24 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20044928 20044928 + Missense_Mutation SNP G G C rs140935689 byFrequency TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:20044928G>C ENST00000343769.5 + 4 1192 c.1164G>C c.(1162-1164)aaG>aaC p.K388N AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 388 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 CTAGACATAAGAGAGTTCATA 0.403000 24 37 0 0 1 0 0 DOK1 1796 broad.mit.edu 37 2 74781882 74781882 + Translation_Start_Site SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:74781882A>G ENST00000233668.5 + 1 670 c.1A>G c.(1-3)Atg>Gtg p.M1V DOK1_ENST00000409429.1_Intron|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Start_Codon_SNP_p.M1V NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 1 MDGAVMEGPLFLQSQRFGTK -> RLPAQASATREREPRWS PFQ (in Ref. 3; AAB88182). 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 GCCGGGGGCCATGGACGGAGC 0.682000 13 9 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131395609 131395609 + Missense_Mutation SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr9:131395609A>G ENST00000372739.3 + 57 7540 c.7430A>G c.(7429-7431)aAc>aGc p.N2477S SPTAN1_ENST00000358161.5_Missense_Mutation_p.N2477S|SPTAN1_ENST00000372731.4_Missense_Mutation_p.N2472S NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2472 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 CTTTTCGTGAACTGAGCCACT 0.617000 18 3 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105174267 105174267 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr14:105174267C>T ENST00000392634.4 + 8 1775 c.1663C>T c.(1663-1665)Cgg>Tgg p.R555W INF2_ENST00000330634.7_Missense_Mutation_p.R555W NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 555 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) CCCCAGCCATCGGCGGGTGAA 0.662000 6 20 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89135536 89135536 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:89135536C>A ENST00000535633.1 - 9 1042 c.732G>T c.(730-732)aaG>aaT p.K244N NOX4_ENST00000527626.1_Missense_Mutation_p.K102N|NOX4_ENST00000343727.5_Missense_Mutation_p.K244N|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.K244N|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.K244N|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.K289N|NOX4_ENST00000263317.4_Missense_Mutation_p.K268N|NOX4_ENST00000534731.1_Missense_Mutation_p.K268N|NOX4_ENST00000528341.1_Missense_Mutation_p.K243N|NOX4_ENST00000527956.1_Missense_Mutation_p.K244N|NOX4_ENST00000532825.1_Missense_Mutation_p.K244N NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 268 Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CCATACAAATCTTCACAAATT 0.368000 18 29 1.01871e-10 1.09576e-10 1 1 0 CASD1 64921 broad.mit.edu 37 7 94166999 94166999 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:94166999G>A ENST00000297273.4 + 9 1346 c.1059G>A c.(1057-1059)aaG>aaA p.K353K NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 353 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GAGAGGAAAAGAAAAATATTA 0.328000 28 43 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98529037 98529037 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:98529037G>A ENST00000359863.4 + 26 3810 c.3601G>A c.(3601-3603)Ggg>Agg p.G1201R TRRAP_ENST00000355540.3_Missense_Mutation_p.G1201R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G1200R NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1201 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) GGTTTCCAATGGGGCAGTCGC 0.562000 14 17 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46815896 46815896 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:46815896C>T ENST00000339613.2 + 8 1098 c.843C>T c.(841-843)gtC>gtT p.V281V HIF3A_ENST00000244303.6_Silent_p.V268V|HIF3A_ENST00000377670.4_Silent_p.V337V|HIF3A_ENST00000600383.1_Silent_p.V268V|HIF3A_ENST00000472815.1_Silent_p.V268V|HIF3A_ENST00000300862.3_Silent_p.V335V|HIF3A_ENST00000420102.2_Silent_p.V286V Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 337 PAS 2. 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) TCGTCTGTGTCCATTTTTTAA 0.607000 11 39 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105548988 105548988 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr6:105548988T>C ENST00000314641.5 - 8 1275 c.1059A>G c.(1057-1059)acA>acG p.T353T BVES_ENST00000446408.2_Silent_p.T353T|BVES_ENST00000336775.5_Silent_p.T353T NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 353 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GGACTTTCAATGTATTTGGAG 0.453000 34 32 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409621 121409621 + Missense_Mutation SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:121409621C>G ENST00000393667.3 - 14 8700 c.8590G>C c.(8590-8592)Gag>Cag p.E2864Q GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2859Q NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2859 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTCCCTTCCTCTGACTTTCGA 0.463000 9 18 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981730 75981730 + Missense_Mutation SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:75981730T>C ENST00000308508.5 - 3 1768 c.1676A>G c.(1675-1677)cAt>cGt p.H559R NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 559 Globular or compact configuration stabilized by disulfide bonds.|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 GAGGCTGCCATGTGGGAAGAT 0.612000 27 16 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89390571 89390571 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:89390571G>A ENST00000439576.2 + 8 1901 c.1527G>A c.(1525-1527)tcG>tcA p.S509S ACAN_ENST00000559004.1_Silent_p.S509S|ACAN_ENST00000352105.7_Silent_p.S509S|ACAN_ENST00000561243.1_Silent_p.S509S|ACAN_ENST00000558207.1_Silent_p.S509S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 509 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) TCATTGCCTCGCCGGAGCAGC 0.687000 5 8 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48699002 48699002 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:48699002C>T ENST00000544264.1 - 1 1346 c.1066G>A c.(1066-1068)Gag>Aag p.E356K CELSR3_ENST00000164024.4_Missense_Mutation_p.E356K Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 356 Cadherin 1. 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) CGCCCGGCCTCGCCGGCGTCC 0.672000 31 34 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21861379 21861379 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr14:21861379C>T ENST00000399982.2 - 32 6418 c.6354G>A c.(6352-6354)gaG>gaA p.E2118E CHD8_ENST00000430710.3_Silent_p.E1839E|CHD8_ENST00000557364.1_Silent_p.E2118E NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2118 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) ACAGGAGACTCTCTTCATCAT 0.448000 14 15 0 0 1 0 0 KLHDC4 54758 broad.mit.edu 37 16 87782320 87782320 + Silent SNP G G C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr16:87782320G>C ENST00000270583.5 - 5 523 c.465C>G c.(463-465)ctC>ctG p.L155L KLHDC4_ENST00000353170.5_Silent_p.L98L|KLHDC4_ENST00000347925.5_Silent_p.L155L NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 155 L -> V (in dbSNP:rs3751727). breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GCAGGACCCAGAGATCCTTGT 0.562000 54 74 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241710404 241710404 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:241710404G>A ENST00000498729.2 - 15 1571 c.1325C>T c.(1324-1326)gCc>gTc p.A442V KIF1A_ENST00000320389.7_Missense_Mutation_p.A433V NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 433 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) TCTTTCAATGGCCTCCTCGCT 0.652000 18 4 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100364838 100364838 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:100364838C>T ENST00000273352.3 + 9 1264 c.996C>T c.(994-996)ttC>ttT p.F332F GPR128_ENST00000475887.1_Silent_p.F37F NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 332 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 ACAAGCTTTTCCAATCAAAAA 0.333000 23 20 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75086459 75086459 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:75086459C>A ENST00000326665.5 - 8 1177 c.959G>T c.(958-960)gGg>gTg p.G320V C1orf173_ENST00000420661.2_Missense_Mutation_p.G123V|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 320 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 AAGGTTTTCCCCACCACAGTG 0.368000 19 43 3.51602e-12 3.84658e-12 1 1 0 CXorf57 55086 broad.mit.edu 37 X 105921470 105921470 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:105921470T>C ENST00000372548.4 + 14 2659 c.2550T>C c.(2548-2550)agT>agC p.S850S CXorf57_ENST00000372544.2_Silent_p.S753S NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 850 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 AGATTTATAGTCCAGAGAATA 0.323000 42 50 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814145 123814145 + Missense_Mutation SNP G G T rs145832379 byFrequency TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:123814145G>T ENST00000321252.2 - 1 435 c.401C>A c.(400-402)aCc>aAc p.T134N NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;0.0401) ATTCATCAGGGTCTCATAGCG 0.557000 6 12 0.00198382 0.00201531 1 1 0 JPH3 57338 broad.mit.edu 37 16 87723611 87723611 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr16:87723611G>A ENST00000284262.2 + 4 1887 c.1645G>A c.(1645-1647)Ggc>Agc p.G549S JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 549 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGCCCTGCGCGGCGGCCTGCT 0.761000 6 1 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74273275 74273275 + Missense_Mutation SNP T T A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:74273275T>A ENST00000253577.3 - 16 2216 c.2192A>T c.(2191-2193)gAg>gTg p.E731V ABCB7_ENST00000373394.3_Missense_Mutation_p.E730V|ABCB7_ENST00000339447.4_Missense_Mutation_p.E690V NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 730 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TCTTTCCTCCTCTTTGGATAT 0.378000 11 49 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124399735 124399735 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr10:124399735C>T ENST00000368909.3 + 52 6841 c.6735C>T c.(6733-6735)gtC>gtT p.V2245V DMBT1_ENST00000330163.4_Silent_p.V1617V|DMBT1_ENST00000368955.3_Silent_p.V2235V|DMBT1_ENST00000359586.6_Silent_p.V965V|DMBT1_ENST00000368956.2_Silent_p.V1617V|DMBT1_ENST00000344338.3_Silent_p.V2235V|DMBT1_ENST00000338354.3_Silent_p.V2245V NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2245 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) CCATCCAGGTCGAGGAAGTCC 0.468000 53 62 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084460 248084460 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:248084460T>C ENST00000319968.4 + 1 141 c.141T>C c.(139-141)atT>atC p.I47I NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 47 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) TTCTCCTGATTCACTGGGACC 0.527000 15 41 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16627768 16627768 + Missense_Mutation SNP A A T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:16627768A>T ENST00000443824.1 - 17 2330 c.1587T>A c.(1585-1587)ttT>ttA p.F529L CTPS2_ENST00000380241.3_Missense_Mutation_p.F529L|CTPS2_ENST00000359276.4_Missense_Mutation_p.F529L NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 529 Glutamine amidotransferase type-1. glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) GCCTAGAAGAAAACTCAGGAT 0.453000 14 33 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99827718 99827718 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:99827718C>T ENST00000524871.1 + 8 1144 c.854C>T c.(853-855)aCg>aTg p.T285M CNTN5_ENST00000279463.3_Missense_Mutation_p.T285M|CNTN5_ENST00000528682.1_Missense_Mutation_p.T285M|CNTN5_ENST00000527185.1_Missense_Mutation_p.T285M|CNTN5_ENST00000418526.2_Missense_Mutation_p.T211M NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 285 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) AGTCCTCCAACGCCACTCACT 0.393000 10 15 0 0 1 0 0 SCRN3 79634 broad.mit.edu 37 2 175264775 175264775 + Silent SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:175264775A>G ENST00000272732.6 + 3 367 c.285A>G c.(283-285)gtA>gtG p.V95V SCRN3_ENST00000409673.3_Silent_p.V88V NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 95 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) ATGAAGCTGTATGGGGAAGAG 0.428000 45 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179482162 179482162 + Missense_Mutation SNP G G C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:179482162G>C ENST00000589042.1 - 254 47874 c.47650C>G c.(47650-47652)Ctg>Gtg p.L15884V TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L6944V|TTN_ENST00000460472.2_Missense_Mutation_p.L6819V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L13316V|TTN_ENST00000342175.6_Missense_Mutation_p.L7011V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L14243V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14243 Fibronectin type-III 15. 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) CCATCTTTCAGAGGAGGTTCC 0.418000 4 8 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124839569 124839569 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:124839569C>T ENST00000430155.2 - 1 129 c.101G>A c.(100-102)gGa>gAa p.G34E SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000469902.1_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000465475.1_Intron A0AV02 S12A8_HUMAN solute carrier family 12, member 8 0 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TGAGCAGCCTCCTCCACGCAT 0.667000 8 6 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149172440 149172440 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:149172440C>A ENST00000340622.3 - 7 1250 c.970G>T c.(970-972)Gcc>Tcc p.A324S ZNF746_ENST00000458143.2_Missense_Mutation_p.A325S Q6NUN9 ZN746_HUMAN zinc finger protein 746 324 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCTTCCTGGGCAGGACTAGGG 0.652000 16 13 3.41278e-10 3.6403e-10 1 1 0 KCNN3 3782 broad.mit.edu 37 1 154698405 154698405 + Missense_Mutation SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:154698405T>C ENST00000271915.4 - 5 2003 c.1688A>G c.(1687-1689)cAg>cGg p.Q563R KCNN3_ENST00000361147.4_Missense_Mutation_p.Q258R|KCNN3_ENST00000358505.2_Missense_Mutation_p.Q250R NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 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) CTTGGTGAGCTGAGTGTCCAT 0.557000 7 7 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86772965 86772965 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:86772965T>C ENST00000373119.4 + 1 214 c.69T>C c.(67-69)agT>agC p.S23S KLHL4_ENST00000373114.4_Silent_p.S23S NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 23 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 GGTGGTTTAGTCATCCTTTTC 0.498000 50 55 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr4:153249385G>A ENST00000281708.4 - 9 2622 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 33 61 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11363177 11363177 + Silent SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr10:11363177G>A ENST00000379261.4 + 11 1175 c.1083G>A c.(1081-1083)gcG>gcA p.A361A CELF2_ENST00000427450.1_Silent_p.A343A|CELF2_ENST00000315874.4_Silent_p.A343A|CELF2_ENST00000450189.1_Silent_p.A374A|CELF2_ENST00000542579.1_Silent_p.A374A|CELF2_ENST00000537122.1_Silent_p.A256A|CELF2_ENST00000354897.3_Silent_p.A355A|CELF2_ENST00000354440.2_Silent_p.A343A|CELF2_ENST00000608830.1_Silent_p.A341A|CELF2_ENST00000416382.2_Silent_p.A361A|CELF2_ENST00000609692.1_Silent_p.A341A|CELF2_ENST00000417956.2_Silent_p.A341A|CELF2_ENST00000399850.3_Silent_p.A343A NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 361 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 CAGGTATGGCGGCTCTGAATG 0.488000 22 26 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102047641 102047641 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr13:102047641C>T ENST00000251127.6 - 3 265 c.184G>A c.(184-186)Gag>Aag p.E62K NALCN_ENST00000376200.5_Missense_Mutation_p.E62K|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E62K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 62 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) GGATAGTGCTCGAAGGTCATT 0.448000 24 29 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777026 6777026 + RNA SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr7:6777026G>A ENST00000486256.1 + 0 1153 NR_002217.1 CGGACAGAGCGGAGGTGGAGA 0.587000 31 27 0 0 1 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64495385 64495385 + Missense_Mutation SNP T T A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:64495385T>A ENST00000303052.7 - 10 1426 c.1003A>T c.(1003-1005)Act>Tct p.T335S CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T317S|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T335S|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T335S NM_022048.3 NP_071331.2 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 335 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 CCTACTGGAGTAGGCTAGAAA 0.423000 15 20 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120319046 120319046 + Missense_Mutation SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr11:120319046C>G ENST00000397843.2 + 20 1892 c.1726C>G c.(1726-1728)Ccc>Gcc p.P576A ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P557A|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P473A NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 576 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) TGGATTTCTTCCCAAAATCAA 0.383000 T MLL AML 20 24 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29187504 29187504 + Missense_Mutation SNP G G C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:29187504G>C ENST00000321990.4 + 10 3388 c.3010G>C c.(3010-3012)Gaa>Caa p.E1004Q CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1004 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) CGTAGAAGCAGAAAATTCTAA 0.353000 24 33 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8201101 8201101 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr19:8201101C>T ENST00000600128.1 - 12 1852 c.1438G>A c.(1438-1440)Gcc>Acc p.A480T FBN3_ENST00000270509.2_Missense_Mutation_p.A480T|FBN3_ENST00000601739.1_Missense_Mutation_p.A480T Q75N90 FBN3_HUMAN fibrillin 3 480 EGF-like 4; 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 GTGGGCGTGGCCTGGAAGCCC 0.652000 27 26 0 0 1 0 0 SRC 6714 broad.mit.edu 37 20 36014528 36014528 + Missense_Mutation SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr20:36014528A>G ENST00000373578.2 + 5 650 c.301A>G c.(301-303)Aca>Gca p.T101A SRC_ENST00000373567.2_Missense_Mutation_p.T101A|SRC_ENST00000360723.4_Missense_Mutation_p.T101A|SRC_ENST00000373558.2_Missense_Mutation_p.T101A|SRC_ENST00000445403.1_Missense_Mutation_p.T101A|SRC_ENST00000358208.4_Missense_Mutation_p.T101A NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 101 SH3. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) TAGGACGGAGACAGACCTGTC 0.582000 50 117 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70146021 70146021 + Missense_Mutation SNP G G T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:70146021G>T ENST00000374299.3 - 11 1772 c.1628C>A c.(1627-1629)gCt>gAt p.A543D SLC7A3_ENST00000298085.4_Missense_Mutation_p.A543D Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 543 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GAGAGGCAAAGCAGGCACCTG 0.458000 12 11 6.40141e-05 6.60791e-05 1 1 0 NCK1 4690 broad.mit.edu 37 3 136646888 136646888 + Silent SNP C C G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:136646888C>G ENST00000481752.1 + 2 209 c.45C>G c.(43-45)gcC>gcG p.A15A NCK1_ENST00000288986.2_Silent_p.A15A P16333 NCK1_HUMAN NCK adaptor protein 1 15 SH3 1. 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 ATTATGTGGCCCAACAAGAAC 0.398000 22 33 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328297 3328297 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:3328297C>T ENST00000378398.3 + 10 1621 c.1539C>T c.(1537-1539)ccC>ccT p.P513P PRDM16_ENST00000378391.2_Silent_p.P512P|PRDM16_ENST00000442529.2_Silent_p.P512P|PRDM16_ENST00000514189.1_Silent_p.P513P|PRDM16_ENST00000511072.1_Silent_p.P513P|PRDM16_ENST00000441472.2_Silent_p.P512P|PRDM16_ENST00000270722.5_Silent_p.P512P|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 512 Pro-rich. 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) CACTCACCCCCGGCTTCCCGG 0.677000 T EVI1 """MDS, AML""" 39 44 0 0 1 0 0 C1QTNF3-AMACR 100534612 broad.mit.edu 37 5 34005931 34005931 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr5:34005931C>T ENST00000382079.3 - 7 837 c.763G>A c.(763-765)Gag>Aag p.E255K AMACR_ENST00000426255.2_Silent_p.L107L|AMACR_ENST00000512079.1_Silent_p.L107L|AMACR_ENST00000382085.3_Silent_p.L107L|AMACR_ENST00000382072.2_Silent_p.L107L|AMACR_ENST00000335606.6_Silent_p.L107L|AMACR_ENST00000382068.3_Silent_p.L107L|AMACR_ENST00000441713.2_Silent_p.L107L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Silent_p.L107L 0 CAAATCCACTCAGCCTGGCAT 0.443000 19 31 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196300310 196300310 + Silent SNP T T C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:196300310T>C ENST00000367433.5 - 18 2180 c.2079A>G c.(2077-2079)ccA>ccG p.P693P KCNT2_ENST00000451324.2_Silent_p.P304P|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.P643P|KCNT2_ENST00000294725.9_Silent_p.P693P|KCNT2_ENST00000367431.4_Silent_p.P643P NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 693 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 AGCAGCAAAATGGTACTTTTT 0.284000 64 70 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46716046 46716046 + Silent SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr16:46716046A>G ENST00000299138.7 - 3 202 c.144T>C c.(142-144)aaT>aaC p.N48N NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 48 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CACCAAGCATATTAGAAGCAT 0.323000 18 26 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166836852 166836852 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr6:166836852C>T ENST00000510118.1 - 19 2050 c.1710G>A c.(1708-1710)ggG>ggA p.G570G RPS6KA2_ENST00000405189.3_Silent_p.G456G|RPS6KA2_ENST00000265678.4_Silent_p.G545G|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.G553G|RPS6KA2_ENST00000481261.2_Silent_p.G456G Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 545 Protein kinase 2. 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) ATTCTGGGCTCCCCGACTCAT 0.592000 16 22 0 0 1 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695688 45695688 + Missense_Mutation SNP T T A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr15:45695688T>A ENST00000305560.6 + 1 1160 c.1061T>A c.(1060-1062)cTg>cAg p.L354Q SPATA5L1_ENST00000559860.1_Missense_Mutation_p.L354Q NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 354 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GACCCAGCGCTGCGTAGGCCC 0.672000 16 46 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057649 46057649 + Silent SNP C C T rs68027322 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr21:46057649C>T ENST00000380095.1 + 1 377 c.315C>T c.(313-315)tgC>tgT p.C105C TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 105 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 ccgtctgctgcgtgcccgtct 0.627000 29 48 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212040 26212040 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chrX:26212040C>T ENST00000379034.1 + 2 226 c.77C>T c.(76-78)aCg>aTg p.T26M NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 26 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CAGGGTCTCACGGGTCCCCAG 0.577000 23 28 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884859 24884859 + Missense_Mutation SNP T T G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr14:24884859T>G ENST00000382554.3 + 9 4222 c.3904T>G c.(3904-3906)Tct>Gct p.S1302A NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1302 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCCGCCTTTCTCTGACCTGTC 0.617000 48 66 0 0 1 0 0 HOXB4 3214 broad.mit.edu 37 17 46654347 46654347 + Missense_Mutation SNP A A C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:46654347A>C ENST00000332503.5 - 2 2284 c.493T>G c.(493-495)Tct>Gct p.S165A HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 165 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 GCGGTCCGAGAGCGCTTGGGC 0.592000 45 38 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482693 94482693 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr13:94482693C>T ENST00000377047.4 + 3 1221 c.606C>T c.(604-606)gaC>gaT p.D202D GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 202 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CATTTGGAGACGTGCCCCGGA 0.507000 30 32 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51875151 51875151 + Missense_Mutation SNP C C A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr6:51875151C>A ENST00000371117.3 - 35 5982 c.5707G>T c.(5707-5709)Gtc>Ttc p.V1903F PKHD1_ENST00000340994.4_Missense_Mutation_p.V1903F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1903 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 p.V1903I(1) 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) GTAATCTTGACGGTAATTGGC 0.393000 29 21 3.80469e-20 4.23479e-20 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154318785 154318785 + Missense_Mutation SNP G G C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:154318785G>C ENST00000368489.3 + 25 2956 c.2956G>C c.(2956-2958)Gag>Cag p.E986Q NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 972 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) CAACAAGCGGGAGTTCTTCAT 0.567000 6 61 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926502 72926502 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr17:72926502C>T ENST00000331427.4 + 6 864 c.772C>T c.(772-774)Ctg>Ttg p.L258L OTOP2_ENST00000580223.1_Silent_p.L258L NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 258 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CTCCACCATGCTGTATGTCAT 0.572000 63 158 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138179501 138179501 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr3:138179501G>A ENST00000389567.4 + 7 973 c.787G>A c.(787-789)Gga>Aga p.G263R ESYT3_ENST00000289135.4_Missense_Mutation_p.G263R NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 263 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GGATGCGCCGGGAATCAAGTA 0.597000 50 58 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15688901 15688901 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr10:15688901C>T ENST00000378076.3 - 12 1504 c.1151G>A c.(1150-1152)gGg>gAg p.G384E NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 384 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.G384L(1) 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 ACCGAATCTCCCAAACGTCTC 0.483000 12 23 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167719501 167719501 + Silent SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr6:167719501C>T ENST00000230256.3 + 6 1114 c.939C>T c.(937-939)gtC>gtT p.V313V UNC93A_ENST00000366829.2_Silent_p.V271V NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 313 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) ATGGAAAGGTCTCGCAGTACA 0.572000 46 47 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070695 141070695 + RNA SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr9:141070695G>A ENST00000503395.1 + 0 1470 p.R105H(1) GCCAAGGGACGCTACACCGAA 0.592000 2 1 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371488 126371488 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr4:126371488C>T ENST00000394329.3 + 9 9330 c.9317C>T c.(9316-9318)tCc>tTc p.S3106F FAT4_ENST00000335110.5_Missense_Mutation_p.S1404F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3106 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 AGCATTGGGTCCATTGTCAGA 0.428000 20 17 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936877 15936877 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr5:15936877G>A ENST00000504595.1 + 4 1539 c.1058G>A c.(1057-1059)cGg>cAg p.R353Q FBXL7_ENST00000510662.1_Missense_Mutation_p.R306Q|FBXL7_ENST00000329673.7_Missense_Mutation_p.R341Q NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 353 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.R353Q(1) 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 TCCCGCCTGCGGTACCTGAGC 0.662000 3 13 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74326457 74326457 + Missense_Mutation SNP G G A TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr2:74326457G>A ENST00000409262.3 + 8 2917 c.2917G>A c.(2917-2919)Gag>Aag p.E973K NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 973 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 TCCCGAGGATGAGCAGCTGCA 0.592000 8 9 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982393 201982394 + Frame_Shift_Ins INS - - G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:201982393_201982394insG ENST00000359651.3 + 6 3964_3965 c.772_773insG c.(772-774)tggfs p.W258fs ELF3_ENST00000367284.5_Frame_Shift_Ins_p.W258fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.W258fs P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 258 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 CAAAGAGTACTGGGACTGTCTC 0.649 29 21 --- --- --- --- RASSF5 83593 broad.mit.edu 37 1 206680949 206680949 + Frame_Shift_Del DEL C C - TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr1:206680949delC ENST00000355294.4 + 1 71 c.14delC c.(13-15)tccfs p.S5fs RASSF5_ENST00000367117.3_Frame_Shift_Del_p.S5fs NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 5 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GCCATGGCGTCCCCGGCCATC 0.736 2 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)gccgggdel p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 2 4 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggcgcc>ggcAGCGGCgcc p.349_350insGS SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS Q86YV5 SG223_HUMAN 349 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 8 6 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 6 3 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site DEL TA TA - TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5eb8078-cd89-449f-98c0-34da693d3e95 6dbe6f80-7c36-454f-b310-ba07c345c733 g.chr14:75601711_75601712delTA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 19 22 --- --- --- ---