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 HRNR 388697 broad.mit.edu 37 1 152188528 152188528 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:152188528G>A ENST00000368801.2 - 3 5652 c.5577C>T c.(5575-5577)ggC>ggT p.G1859G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1859 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCCATGTCGGCCACTGCTGG 0.597000 85 890 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71787851 71787851 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:71787851A>T ENST00000439122.2 - 4 611 c.325T>A c.(325-327)Ttt>Att p.F109I HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.F109I|HDAC8_ENST00000373554.1_Missense_Mutation_p.F109I|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373573.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.F109I|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.F109I NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 109 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) GCATAGTCAAATATCCCTTCA 0.478000 34 64 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148984433 148984433 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:148984433C>T ENST00000336498.3 + 21 2401 c.2162C>T c.(2161-2163)gCg>gTg p.A721V ARHGAP10_ENST00000414545.2_Intron NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 721 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GCTACTGTAGCGGACAAGCCA 0.532000 18 29 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32267721 32267721 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:32267721G>A ENST00000343380.5 - 3 551 c.412C>T c.(412-414)Cgc>Tgc p.R138C NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 138 apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 TCCAGGAAGCGCTTGGTGGTC 0.602000 32 60 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692910 89692910 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:89692910G>A ENST00000371953.3 + 5 1751 c.394G>A c.(394-396)Ggt>Agt p.G132S NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 132 Phosphatase tensin-type. G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132S(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGGACGAACTGGTGTAATGAT 0.398000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 122 79 0 0 1 0 0 RPA4 29935 broad.mit.edu 37 X 96139445 96139445 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:96139445G>A ENST00000373040.3 + 1 539 c.136G>A c.(136-138)Gtt>Att p.V46I DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 46 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 AATTCAGGACGTTGTACCGTG 0.498000 Other identified genes with known or suspected DNA repair function 38 40 0 0 1 0 0 B3GNT1 11041 broad.mit.edu 37 11 66114163 66114163 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:66114163C>A ENST00000311181.4 - 1 1000 c.854G>T c.(853-855)cGg>cTg p.R285L NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 285 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 ATAGAAGGGCCGCACCTCGCC 0.632000 52 58 3.76525e-18 4.10201e-18 1 1 0 GRM5 2915 broad.mit.edu 37 11 88386450 88386450 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:88386450G>A ENST00000418177.2 - 4 1400 c.1033C>T c.(1033-1035)Cgg>Tgg p.R345W GRM5_ENST00000455756.2_Missense_Mutation_p.R345W|GRM5_ENST00000305432.5_Missense_Mutation_p.R345W|GRM5_ENST00000393297.1_Missense_Mutation_p.R345W|GRM5_ENST00000305447.4_Missense_Mutation_p.R345W P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 345 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GTTTCTGGCCGGAGCTTCAGA 0.458000 46 47 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54625988 54625988 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:54625988T>C ENST00000545554.1 + 15 4518 c.4518T>C c.(4516-4518)acT>acC p.T1506T UNC13C_ENST00000260323.11_Silent_p.T1506T|UNC13C_ENST00000537900.1_Silent_p.T1504T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1506 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAAGCAATACTGAAAGACTGC 0.348000 7 13 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205290640 205290640 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:205290640C>T ENST00000367157.3 - 1 243 c.117G>A c.(115-117)gcG>gcA p.A39A NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 39 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GCCGCTTCACCGCCTGCTTCT 0.672000 3 45 0 0 1 0 0 RBM41 55285 broad.mit.edu 37 X 106332030 106332030 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:106332030T>C ENST00000372487.1 - 5 589 c.563A>G c.(562-564)aAc>aGc p.N188S RBM41_ENST00000372479.3_Missense_Mutation_p.N188S|RBM41_ENST00000203616.8_Missense_Mutation_p.N212S NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 188 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 ACTTTCCAGGTTGTTCATGGG 0.408000 31 45 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14355246 14355246 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:14355246G>A ENST00000571589.1 + 17 3417 c.3245G>A c.(3244-3246)aGc>aAc p.S1082N MKL2_ENST00000318282.5_Missense_Mutation_p.S1032N|MKL2_ENST00000341243.5_Missense_Mutation_p.S1071N|MKL2_ENST00000574045.1_Missense_Mutation_p.S1032N NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 1071 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCGCGCCGAGCATGTTCTCT 0.507000 35 45 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120190012 120190012 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:120190012C>T ENST00000392521.2 - 23 2802 c.2747G>A c.(2746-2748)cGc>cAc p.R916H CIT_ENST00000261833.7_Missense_Mutation_p.R874H|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 874 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGTGAGCTGGCGCTTGAGCTC 0.582000 19 17 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58232447 58232447 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:58232447G>A ENST00000317398.6 - 4 1102 c.1007C>T c.(1006-1008)aCt>aTt p.T336I ZNF671_ENST00000335820.3_Missense_Mutation_p.T238I|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCTTTCTCCAGTGTGAACTGT 0.463000 32 83 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19959451 19959451 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:19959451G>A ENST00000263207.3 - 18 3030 c.2739C>T c.(2737-2739)ggC>ggT p.G913G ARVCF_ENST00000344269.3_Silent_p.G850G|ARVCF_ENST00000406522.1_Silent_p.G844G|ARVCF_ENST00000406259.1_Silent_p.G907G|ARVCF_ENST00000401994.1_Silent_p.G850G NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 913 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CAGAGCTGGCGCCCCGTGGCC 0.652000 22 40 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623411 623411 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:623411C>T ENST00000262109.7 - 4 1018 c.941G>A c.(940-942)gGt>gAt p.G314D ERICH1_ENST00000522706.1_Missense_Mutation_p.G220D NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 314 Glu-rich. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) GGAGTCTGCACCCTCTTCCTC 0.567000 62 229 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42162110 42162110 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:42162110G>A ENST00000320955.6 - 32 6009 c.5782C>T c.(5782-5784)Ctg>Ttg p.L1928L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1928 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CGTCGCTGCAGCACTGCCCAC 0.701000 6 4 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132171156 132171156 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:132171156G>A ENST00000360971.2 + 3 360 c.340G>A c.(340-342)Gag>Aag p.E114K NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 114 SMB 1. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity p.E62*(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TCGCTGTTTCGAGAGAACATT 0.383000 67 53 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17292527 17292527 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:17292527C>T ENST00000375541.5 + 29 4678 c.4609C>T c.(4609-4611)Cgc>Tgc p.R1537C NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1537 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGCCCTGAATCGCCAGCTGGC 0.637000 26 38 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106121801 106121801 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:106121801G>T ENST00000369704.3 + 3 446 c.312G>T c.(310-312)aaG>aaT p.K104N CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 104 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGGCCTGGAAGATGGTGGACT 0.448000 42 26 3.77016e-25 4.20665e-25 1 1 0 NUB1 51667 broad.mit.edu 37 7 151046250 151046250 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:151046250G>A ENST00000568733.1 + 3 347 c.281G>A c.(280-282)cGt>cAt p.R94H NUB1_ENST00000566856.1_Missense_Mutation_p.R70H|NUB1_ENST00000413040.2_Missense_Mutation_p.R94H|NUB1_ENST00000355851.4_Missense_Mutation_p.R70H Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 70 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GCAATTGAGCGTGGAACAGGA 0.373000 38 56 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228474715 228474715 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:228474715C>T ENST00000570156.2 + 40 10880 c.10806C>T c.(10804-10806)tgC>tgT p.C3602C OBSCN_ENST00000366709.4_Silent_p.C292C|OBSCN_ENST00000284548.11_Silent_p.C3173C|OBSCN_ENST00000359599.6_Silent_p.C2020C|OBSCN_ENST00000422127.1_Silent_p.C3173C|OBSCN_ENST00000366707.4_Silent_p.C292C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2635 Ig-like 36. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGCGCCTGCAGCAGCTCCA 0.652000 3 9 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196799690 196799690 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:196799690C>T ENST00000320493.5 + 5 756 c.668C>T c.(667-669)cCg>cTg p.P223L CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.P164L NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 223 Sushi 4. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 ACTTCATTCCCGTTGTCAGTA 0.413000 57 8 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974801 20974801 + Nonsense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:20974801C>A ENST00000261383.3 - 53 10404 c.10405G>T c.(10405-10407)Gga>Tga p.G3469* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3469 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCTCCAATCCTTGAGAGAAC 0.512000 18 29 1.67942e-08 1.76178e-08 1 1 0 KMT2C 58508 broad.mit.edu 37 7 152055715 152055715 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:152055715C>T ENST00000355193.2 - 2 425 c.207G>A c.(205-207)atG>atA p.M69I KMT2C_ENST00000262189.6_Missense_Mutation_p.M69I lysine (K)-specific methyltransferase 2C CCAGCCCATCCATGCTGTCCT 0.348000 65 105 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51258732 51258732 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:51258732G>T ENST00000395542.2 - 4 684 c.500C>A c.(499-501)gCt>gAt p.A167D COBL_ENST00000395540.2_Missense_Mutation_p.A167D|COBL_ENST00000265136.7_Missense_Mutation_p.A167D|COBL_ENST00000441453.1_Missense_Mutation_p.A167D O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 167 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ACGCACAACAGCTTTTTGTGT 0.488000 8 30 0.000442599 0.000448739 1 1 0 DNASE2B 58511 broad.mit.edu 37 1 84880445 84880445 + Missense_Mutation SNP G G A rs145614783 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:84880445G>A ENST00000370665.3 + 6 1013 c.980G>A c.(979-981)cGg>cAg p.R327Q DNASE2B_ENST00000370662.3_Missense_Mutation_p.R119Q NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 327 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) GACCTAAATCGGAGTCCACAC 0.403000 33 32 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152738148 152738148 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:152738148G>T ENST00000367255.5 - 41 6025 c.5424C>A c.(5422-5424)gaC>gaA p.D1808E SYNE1_ENST00000448038.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1808E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1845E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1808 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCTGCGTGGTCCTGGAAGG 0.483000 HNSCC(10;0.0054) 95 66 2.56585e-57 2.91483e-57 1 1 0 LINC00969 0 broad.mit.edu 37 3 195395468 195395468 + RNA SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:195395468G>A ENST00000445430.1 + 0 875 ACCAGGGCAGGCCTTCCTTGC 0.612000 4 15 0 0 1 0 0 PSEN1 5663 broad.mit.edu 37 14 73637521 73637521 + Missense_Mutation SNP G G A rs63750592 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:73637521G>A ENST00000324501.5 + 4 376 c.104G>A c.(103-105)cGg>cAg p.R35Q PSEN1_ENST00000394164.1_Missense_Mutation_p.R31Q|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.R35Q|PSEN1_ENST00000344094.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000261970.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000394157.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000357710.4_Missense_Mutation_p.R31Q|PSEN1_ENST00000553447.2_3'UTR NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 35 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) AATAGAGAACGGCAGGAGCAC 0.478000 8 25 0 0 1 0 0 SLC25A42 284439 broad.mit.edu 37 19 19218753 19218753 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:19218753T>C ENST00000318596.7 + 7 699 c.548T>C c.(547-549)cTg>cCg p.L183P SLC25A42_ENST00000600275.1_3'UTR NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 183 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) GAAGAGGGGCTGAAGACTCTC 0.562000 118 88 0 0 1 0 0 ARL16 339231 broad.mit.edu 37 17 79650090 79650090 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:79650090T>C ENST00000397498.4 - 3 357 c.259A>G c.(259-261)Atg>Gtg p.M87V ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000576135.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000570561.1_Start_Codon_SNP_p.M1V NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 87 GTP binding central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) ATGGGGCCCATGCACCCCCCA 0.488000 22 207 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365461 36365461 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:36365461G>A ENST00000221891.4 + 9 1304 c.1112G>A c.(1111-1113)cGc>cAc p.R371H APLP1_ENST00000586861.1_Missense_Mutation_p.R365H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R332H NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 371 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGCGACAGCGCCTGGTGGAA 0.652000 75 86 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593988 16593988 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:16593988G>A ENST00000443444.2 + 1 414 c.274G>A c.(274-276)Gac>Aac p.D92N CCDC144A_ENST00000360524.8_Missense_Mutation_p.D92N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D92N|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D92N|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D92N A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 92 CCGGTCGGGCGACGTCCCTGG 0.642000 94 141 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24033540 24033540 + Splice_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:24033540A>G ENST00000308724.5 - 9 1733 c.e9+1 AP1G2_ENST00000397120.3_Splice_Site|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) TGGGACTATTACCTAATGTTC 0.512000 30 42 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 892379 892379 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:892379C>T ENST00000327044.6 - 4 430 c.381G>A c.(379-381)gcG>gcA p.A127A NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 127 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTCCTTCCTCCGCTCCATCCT 0.582000 79 103 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37693106 37693106 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:37693106C>T ENST00000412232.2 + 13 1881 c.1868C>T c.(1867-1869)cCg>cTg p.P623L GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 623 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CAGCTGCCCCCGAGTCTATTC 0.647000 82 298 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:70993145A>G ENST00000396396.1 + 2 521 c.292A>G c.(292-294)Atc>Gtc p.I98V PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 98 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity p.I98V(3) endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ACAGAATGGCATCTTGTCGAC 0.478000 5 70 0 0 1 0 0 EHF 26298 broad.mit.edu 37 11 34668216 34668216 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:34668216C>T ENST00000257831.3 + 3 449 c.328C>T c.(328-330)Cat>Tat p.H110Y EHF_ENST00000530286.1_Missense_Mutation_p.H110Y|EHF_ENST00000531728.1_Missense_Mutation_p.H110Y|EHF_ENST00000527935.1_Missense_Mutation_p.H110Y|EHF_ENST00000531794.1_Missense_Mutation_p.H132Y|EHF_ENST00000533754.1_Missense_Mutation_p.H110Y|EHF_ENST00000450654.2_Missense_Mutation_p.H110Y NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 110 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) CAACTTGCAGCATCTGAAGTG 0.552000 97 140 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123348433 123348433 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:123348433C>T ENST00000360304.3 - 30 5283 c.5002G>A c.(5002-5004)Gaa>Aaa p.E1668K MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1668K|MYLK-AS1_ENST00000470449.1_RNA NM_053025.3 NP_444253.3 Q15746 MYLK_HUMAN myosin light chain kinase 1668 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCCAAGGTTTCGTTATCGTTG 0.557000 38 35 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980772 40980772 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:40980772T>C ENST00000373198.3 - 10 1949 c.1714A>G c.(1714-1716)Aag>Gag p.K572E PTPRT_ENST00000373187.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K572E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373184.1_Missense_Mutation_p.K572E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K572E NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 572 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCAAAGCCCTTTGCTGTGCTG 0.517000 48 101 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67863714 67863714 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:67863714G>A ENST00000562787.1 - 12 1688 c.1140C>T c.(1138-1140)gaC>gaT p.D380D CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.D380D NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 380 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CTCCTGGCCCGTCAGCCTCAG 0.612000 72 82 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419539 123419539 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:123419539G>A ENST00000360772.3 - 19 3154 c.2776C>T c.(2776-2778)Cgt>Tgt p.R926C MYLK_ENST00000359169.1_Missense_Mutation_p.R926C|MYLK_ENST00000360304.3_Missense_Mutation_p.R926C|MYLK_ENST00000346322.5_Missense_Mutation_p.R857C|MYLK_ENST00000475616.1_Missense_Mutation_p.R926C Q15746 MYLK_HUMAN myosin light chain kinase 926 5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGTTGGCACGGAAATCCATC 0.572000 37 54 0 0 1 0 0 PCDHGB1 0 broad.mit.edu 37 5 140730213 140730213 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140730213G>A ENST00000523390.1 + 1 386 c.386G>A c.(385-387)cGt>cAt p.R129H PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGCACCACGTTTCGTTGCA 0.418000 35 77 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60747588 60747588 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:60747588C>A ENST00000261520.4 - 7 954 c.720G>T c.(718-720)caG>caT p.Q240H NARG2_ENST00000561114.1_Missense_Mutation_p.Q240H|NARG2_ENST00000439632.1_Missense_Mutation_p.Q103H NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 240 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCTTTGACAGCTGCAACTTTA 0.333000 53 56 1.10885e-35 1.24515e-35 1 1 0 MAPK15 225689 broad.mit.edu 37 8 144800992 144800992 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:144800992G>A ENST00000338033.4 + 5 453 c.334G>A c.(334-336)Gtc>Atc p.V112I RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V112I|MAPK15_ENST00000395107.4_Missense_Mutation_p.V129I NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 112 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCTGCAGGACGTCCACGTGCG 0.692000 14 33 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53247577 53247577 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:53247577G>T ENST00000375401.3 - 3 764 c.232C>A c.(232-234)Cag>Aag p.Q78K KDM5C_ENST00000375379.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Intron NM_004187.3 NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 78 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 ACTCTCGTCTGGGCCTGAAGA 0.512000 """N, F, S""" clear cell renal carcinoma 24 48 2.49675e-24 2.77874e-24 1 1 0 DVL3 1857 broad.mit.edu 37 3 183888361 183888361 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:183888361G>A ENST00000313143.3 + 15 2217 c.1969G>A c.(1969-1971)Gga>Aga p.G657R DVL3_ENST00000431765.1_Missense_Mutation_p.G640R|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 657 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CGGTCCTCCCGGAGTGCCCCC 0.746000 19 13 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93221892 93221892 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:93221892G>T ENST00000446394.1 + 5 651 c.551G>T c.(550-552)gGg>gTg p.G184V HECTD2_ENST00000371681.4_Missense_Mutation_p.G184V|HECTD2_ENST00000298068.5_Missense_Mutation_p.G184V Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 184 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 GAAGACTCTGGGATTAATGCT 0.294000 43 164 2.64894e-19 2.91118e-19 1 1 0 NKPD1 284353 broad.mit.edu 37 19 45655971 45655971 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:45655971G>A ENST00000317951.4 - 4 1723 c.1724C>T c.(1723-1725)gCg>gTg p.A575V NKPD1_ENST00000589776.1_Missense_Mutation_p.A353V|NKPD1_ENST00000429338.1_Missense_Mutation_p.A353V|NKPD1_ENST00000438936.2_Missense_Mutation_p.A353V NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CGCCTGCACCGCCAGCAGCTG 0.741000 5 8 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94899379 94899379 + Missense_Mutation SNP G G A rs142627007 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:94899379G>A ENST00000357742.4 + 8 1019 c.1019G>A c.(1018-1020)cGc>cAc p.R340H MCTP2_ENST00000543482.1_Missense_Mutation_p.R340H|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R340H|MCTP2_ENST00000331706.4_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 340 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCTTTGATACGCAACCTACGG 0.388000 37 75 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44036491 44036491 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:44036491C>A ENST00000269439.7 + 8 984 c.933C>A c.(931-933)ccC>ccA p.P311P RNF165_ENST00000543885.1_Silent_p.P119P NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 311 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GACGCCTACCCTGTATGCATC 0.592000 52 70 1.17673e-23 1.30632e-23 1 1 0 PCDHB15 0 broad.mit.edu 37 5 140627364 140627364 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140627364A>G ENST00000231173.3 + 1 2218 c.2218A>G c.(2218-2220)Agc>Ggc p.S740G NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 740 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGACGTGAGCGGCACCGG 0.602000 207 134 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49392006 49392006 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:49392006C>T ENST00000421952.2 - 2 674 c.653G>A c.(652-654)cGa>cAa p.R218Q NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 218 Interaction with MAGI2. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CCAGCGGCGTCGTGGGGCGGT 0.716000 27 40 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51043378 51043378 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:51043378G>A ENST00000399908.2 + 3 1569 c.853G>A c.(853-855)Gcg>Acg p.A285T MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.A285T|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.A171T|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.A550T|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.A256T NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 551 Ser-rich. behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGAGGCGGGCGCGGCGCTGCT 0.682000 22 20 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186567832 186567832 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:186567832T>C ENST00000431808.1 - 11 1237 c.674A>G c.(673-675)cAt>cGt p.H225R SORBS2_ENST00000449407.2_Missense_Mutation_p.H296R|SORBS2_ENST00000448662.2_Missense_Mutation_p.H294R|SORBS2_ENST00000437304.2_Missense_Mutation_p.H404R|SORBS2_ENST00000418609.1_Missense_Mutation_p.H129R|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.H271R|SORBS2_ENST00000355634.5_Missense_Mutation_p.H325R|SORBS2_ENST00000319471.9_Missense_Mutation_p.H311R|SORBS2_ENST00000284776.7_Missense_Mutation_p.H225R O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 225 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TGGTCTTTCATGCTGAAGAAT 0.438000 29 33 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92624210 92624210 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:92624210C>T ENST00000298047.6 + 27 13718 c.13701C>T c.(13699-13701)agC>agT p.S4567S FAT3_ENST00000409404.2_Silent_p.S4535S|FAT3_ENST00000525166.1_Silent_p.S4417S|FAT3_ENST00000533797.1_Silent_p.S870S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4567 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTACGAGAGCGTGGGAGAGC 0.527000 TCGA Ovarian(4;0.039) 8 14 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153591516 153591516 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:153591516T>C ENST00000368699.1 - 5 657 c.e5-2 S100A13_ENST00000339556.4_Splice_Site|S100A13_ENST00000491177.1_Splice_Site|S100A13_ENST00000392623.1_Splice_Site|S100A13_ENST00000440685.2_Splice_Site|S100A13_ENST00000392622.1_Splice_Site NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GCCCACATCCTGAGGAGACAC 0.502000 101 112 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153762334 153762334 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:153762334T>C ENST00000393562.2 - 7 1159 c.776A>G c.(775-777)aAc>aGc p.N259S G6PD_ENST00000369620.2_Missense_Mutation_p.N229S|G6PD_ENST00000393564.2_Missense_Mutation_p.N229S NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 229 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAGGCGATGTTGTCCCGGTT 0.587000 39 69 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464418 25464418 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:25464418C>T ENST00000376351.3 + 1 428 c.69C>T c.(67-69)ggC>ggT p.G23G GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 23 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAGCTGTTGGCGCCAGCCGCG 0.667000 35 92 0 0 1 0 0 FAM168B 130074 broad.mit.edu 37 2 131812977 131812977 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:131812977C>T ENST00000409185.1 - 5 450 c.343G>A c.(343-345)Gtc>Atc p.V115I FAM168B_ENST00000389915.3_Missense_Mutation_p.V115I NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 115 endometrium(3)|lung(2) 5 TGGTGGATGACGTGAGGAGGT 0.612000 59 106 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77984212 77984212 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:77984212C>T ENST00000310924.2 - 3 641 c.526G>A c.(526-528)Gcc>Acc p.A176T NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 176 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GGCTGCGAGGCTGGCTGGGCA 0.706000 6 27 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146209222 146209222 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:146209222T>C ENST00000367503.3 - 29 5299 c.4901A>G c.(4900-4902)cAc>cGc p.H1634R SHPRH_ENST00000438092.2_Missense_Mutation_p.H1634R|SHPRH_ENST00000275233.7_Missense_Mutation_p.H1630R|SHPRH_ENST00000367505.2_Missense_Mutation_p.H1630R NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1630 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TAAGAATCTGTGTACAATAGT 0.323000 9 34 0 0 1 0 0 WWOX 51741 broad.mit.edu 37 16 78458772 78458772 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:78458772T>G ENST00000566780.1 + 7 977 c.611T>G c.(610-612)cTt>cGt p.L204R WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L204R|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase 204 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TTCAGGCCTCTTCATGTGCTT 0.463000 31 337 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043291 153043291 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:153043291G>A ENST00000367245.5 + 2 619 c.611G>A c.(610-612)cGt>cAt p.R204H MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 204 nucleus p.R204H(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) AGTCTGAGCCGTCCTGACTAC 0.532000 57 88 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447381 10447381 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:10447381T>C ENST00000326756.3 - 3 1010 c.572A>G c.(571-573)cAg>cGg p.Q191R NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ATACTCACACTGATAAGGAAA 0.403000 71 73 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132236920 132236920 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:132236920C>T ENST00000321253.6 + 3 373 c.266C>T c.(265-267)cCg>cTg p.P89L TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 89 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CTCTTCCACCCGGAGCAGCTG 0.527000 68 113 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98238411 98238411 + Nonsense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:98238411C>A ENST00000430669.2 - 12 2020 c.1435G>T c.(1435-1437)Gga>Tga p.G479* PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G479*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G544*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G545*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G394* Q13635 PTC1_HUMAN patched 1 545 SSD. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ACGCTGGCTCCTGTGCGCTTC 0.592000 13 11 1.5842e-08 1.66388e-08 1 1 0 TTLL12 23170 broad.mit.edu 37 22 43570304 43570304 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:43570304G>A ENST00000216129.6 - 8 1203 c.1140C>T c.(1138-1140)ggC>ggT p.G380G NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 380 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) GGCCCTCGGGGCCACCTGCCC 0.657000 67 124 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230223281 230223281 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:230223281G>A ENST00000341772.4 - 13 2323 c.2189C>T c.(2188-2190)aCa>aTa p.T730I NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 730 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TTTAATCAGTGTGACCAAGGG 0.333000 32 30 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3438974 3438974 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:3438974C>T ENST00000301365.4 - 7 808 c.677G>A c.(676-678)cGg>cAg p.R226Q TRPV3_ENST00000576742.1_Missense_Mutation_p.R226Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.R226Q Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 226 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GTCCCCCTGCCGCCGCTCGAT 0.721000 4 7 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 142053668 142053668 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:142053668G>T ENST00000306799.3 - 1 948 c.295C>A c.(295-297)Cgc>Agc p.R99S RNF150_ENST00000515673.1_Missense_Mutation_p.R99S|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.R99S NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 99 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) CAGGCCAGGCGGTCGTGGGCC 0.672000 3 5 1 1 1 1 0 ABCB6 10058 broad.mit.edu 37 2 220077176 220077176 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:220077176C>T ENST00000265316.3 - 14 2217 c.1901G>A c.(1900-1902)cGc>cAc p.R634H ABCB6_ENST00000439002.2_Missense_Mutation_p.R588H NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 634 ABC transporter. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAACAGCAGGCGCAAAATTGT 0.512000 23 37 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72281094 72281094 + RNA SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:72281094C>T ENST00000438125.1 - 0 336 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ATTTCCCAGGCCAAATACCGC 0.428000 75 120 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5774180 5774180 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:5774180G>T ENST00000414202.2 + 26 4397 c.4206G>T c.(4204-4206)gaG>gaT p.E1402D KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323D NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1402 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GGAAAGAGGAGGACACAGCCC 0.547000 32 50 1.99505e-19 2.19531e-19 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52336136 52336136 + Splice_Site SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:52336136C>A ENST00000356297.4 - 14 1894 c.1795_splice c.e14+1 p.T598_splice PXDNL_ENST00000543296.1_Splice_Site_p.T598_splice NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 598 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GACACCTACCCGTGACTGTAA 0.438000 19 45 5.3912e-06 5.55592e-06 1 1 0 IGFBP1 3484 broad.mit.edu 37 7 45930298 45930298 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:45930298C>A ENST00000275525.3 + 2 797 c.501C>A c.(499-501)acC>acA p.T167T IGFBP1_ENST00000468955.1_Silent_p.T167T|IGFBP1_ENST00000457280.1_Silent_p.T167T NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 167 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TCCATGTCACCAACATCAAAA 0.527000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 64 3.62531e-18 3.9594e-18 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76072999 76072999 + RNA SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:76072999T>C ENST00000395215.3 + 0 388 AACAGTGAAATACACAAAGCA 0.478000 37 34 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201969 248201969 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:248201969C>T ENST00000366479.2 + 1 496 c.400C>T c.(400-402)Cgt>Tgt p.R134C OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATCCCATCCGTATAAGCAA 0.428000 53 70 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129489 83129489 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:83129489A>G ENST00000329312.4 + 4 1810 c.1773A>G c.(1771-1773)aaA>aaG p.K591K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 591 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TCAATGAAAAAGGGGAAAAAG 0.418000 32 25 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100283633 100283633 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:100283633G>A ENST00000275732.5 - 9 2227 c.1018C>T c.(1018-1020)Cct>Tct p.P340S GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 340 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCTTCGGAAGGTTCCTCCTCC 0.682000 33 42 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014143 127014143 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:127014143A>G ENST00000393313.1 - 5 1838 c.1247T>C c.(1246-1248)gTa>gCa p.V416A ZNF800_ENST00000393312.1_Missense_Mutation_p.V416A|ZNF800_ENST00000265827.3_Missense_Mutation_p.V416A Q2TB10 ZN800_HUMAN zinc finger protein 800 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TGAAGATTCTACAGAATCTGC 0.358000 28 41 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148009407 148009407 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:148009407G>A ENST00000369219.1 - 16 1916 c.1900C>T c.(1900-1902)Ccc>Tcc p.P634S Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 634 NBPF 7. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CTTCTGTAGGGCTGGCATGAG 0.473000 25 425 0 0 1 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42272160 42272160 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:42272160C>T ENST00000389384.4 - 10 1021 c.713G>A c.(712-714)cGg>cAg p.R238Q ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R245Q NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 238 SCA7. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) AAAATAAATCCGTACGGTTCG 0.577000 12 21 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106184836 106184836 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:106184836C>T ENST00000355610.4 - 17 2961 c.2687G>A c.(2686-2688)cGt>cAt p.R896H MORC4_ENST00000255495.7_Silent_p.T883T|MORC4_ENST00000535534.1_Silent_p.T631T NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 896 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GACGTGGATACGTAGCCGCGT 0.498000 19 38 0 0 1 0 0 LINC00174 0 broad.mit.edu 37 7 65842378 65842378 + RNA SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:65842378G>T ENST00000421767.1 - 0 3354 NR_026873.1 AGAGGCCGACGGGAACCAGTT 0.716000 4 11 0.00909568 0.00916886 1 1 0 FAM214A 56204 broad.mit.edu 37 15 52905907 52905907 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:52905907A>T ENST00000261844.7 - 3 316 c.164T>A c.(163-165)gTa>gAa p.V55E FAM214A_ENST00000546305.2_Missense_Mutation_p.V62E NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 55 p.V55E(1) TTTGGTAGTTACTGGGTAACA 0.408000 13 20 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176963600 176963600 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:176963600G>A ENST00000443375.2 - 5 2054 c.496C>T c.(496-498)Ccc>Tcc p.P166S FAM193B_ENST00000514747.1_Missense_Mutation_p.P279S|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 226 kidney(1)|large_intestine(3) 4 GGGGTGGTGGGCAGCAGGTGT 0.667000 9 12 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125072512 125072512 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:125072512T>C ENST00000522917.1 + 23 3172 c.2966T>C c.(2965-2967)cTg>cCg p.L989P FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L989P NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 989 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CGGCCGGTGCTGAGCAAATAC 0.587000 118 54 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41654017 41654017 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:41654017G>A ENST00000455915.2 - 6 2178 c.709C>T c.(709-711)Ctg>Ttg p.L237L RANGAP1_ENST00000356244.3_Silent_p.L237L|RANGAP1_ENST00000405486.1_Silent_p.L237L|RANGAP1_ENST00000407260.4_Silent_p.L182L P46060 RAGP1_HUMAN Ran GTPase activating protein 1 237 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACCCGCAGCAGGGGGTTGACA 0.627000 35 36 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221723 59221723 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:59221723A>G ENST00000262717.4 + 12 2599 c.2201A>G c.(2200-2202)gAc>gGc p.D734G CDH20_ENST00000538374.1_Missense_Mutation_p.D734G|CDH20_ENST00000536675.2_Missense_Mutation_p.D734G Q9HBT6 CAD20_HUMAN cadherin 20, type 2 734 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TACGAGGCCGACATGGACCTG 0.647000 10 12 0 0 1 0 0 ACTR1A 10121 broad.mit.edu 37 10 104241927 104241927 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:104241927A>G ENST00000369905.4 - 8 819 c.756T>C c.(754-756)ggT>ggC p.G252G ACTR1A_ENST00000487599.1_Silent_p.G252G|ACTR1A_ENST00000446605.2_Silent_p.G205G|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Silent_p.G178G NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 252 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) ATCGGGAAGGACCAATCTGCA 0.572000 51 150 0 0 1 0 0 PXT1 222659 broad.mit.edu 37 6 36359628 36359628 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:36359628A>G ENST00000454782.2 - 5 807 c.324T>C c.(322-324)gaT>gaC p.D108D RP1-50J22.4_ENST00000411643.1_RNA NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 25 peroxisome GATCTAGTGCATCTCTGCCAT 0.323000 37 93 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474152 43474152 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:43474152C>T ENST00000532038.1 - 11 1425 c.1290G>A c.(1288-1290)gcG>gcA p.A430A ARHGAP27_ENST00000455881.1_Silent_p.A311A|ARHGAP27_ENST00000528384.1_Silent_p.A284A|ARHGAP27_ENST00000428638.1_Silent_p.A652A|ARHGAP27_ENST00000442348.1_Silent_p.A625A|ARHGAP27_ENST00000532891.2_Silent_p.A630A|ARHGAP27_ENST00000376922.2_Silent_p.A311A Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 652 WW 3. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CCAGGGCGGGCGCGGCTGCCG 0.716000 9 25 0 0 1 0 0 LGALS9 3965 broad.mit.edu 37 17 25976006 25976006 + Nonstop_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:25976006T>C ENST00000395473.2 + 11 2534 c.1066T>C c.(1066-1068)Tag>Cag p.*356Q LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000310394.5_Nonstop_Mutation_p.*312Q|LGALS9_ENST00000302228.5_Nonstop_Mutation_p.*324Q NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) TGTGCAGACATAGGCGGCTTC 0.627000 72 121 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9452491 9452491 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:9452491G>A ENST00000379719.3 + 16 1964 c.1822G>A c.(1822-1824)Gct>Act p.A608T CTD-2371O3.2_ENST00000531111.1_RNA NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 608 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) AGCAGTTACTGCTATGGGAAT 0.363000 25 27 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924624 45924624 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:45924624C>T ENST00000395629.2 + 5 1606 c.1276C>T c.(1276-1278)Cgg>Tgg p.R426W MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R436W Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 436 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GGAGGCCCCGCGGCCCCAGCC 0.602000 18 32 0 0 1 0 0 RAB11A 8766 broad.mit.edu 37 15 66170108 66170108 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:66170108G>A ENST00000261890.2 + 3 373 c.245G>A c.(244-246)cGt>cAt p.R82H RAB11A_ENST00000435304.2_Missense_Mutation_p.R82H|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.R82H|RAB11A_ENST00000569896.1_Missense_Mutation_p.R82H NM_001206836.1|NM_004663.4 NP_001193765.1|NP_004654.1 P62491 RB11A_HUMAN RAB11A, member RAS oncogene family 82 cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network GTP binding|GTPase activity|syntaxin binding kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 AGATATTATCGTGGAGCTGTA 0.358000 17 48 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166890248 166890248 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:166890248G>A ENST00000271417.3 - 9 1635 c.1580C>T c.(1579-1581)tCg>tTg p.S527L ILDR2_ENST00000528703.1_Missense_Mutation_p.S468L|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.S400L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S508L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.S419L NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 527 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GCCCAGGTACGAGTGGTCGTA 0.776000 3 7 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139906583 139906583 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:139906583C>T ENST00000297183.6 + 27 5135 c.5011C>T c.(5011-5013)Cca>Tca p.P1671S ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1671S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1671S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAAGCTCTCCAAACATAAA 0.388000 15 77 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643557 88643557 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:88643557G>A ENST00000301011.5 + 2 226 c.26G>A c.(25-27)cGg>cAg p.R9Q ZC3H18_ENST00000452588.2_Missense_Mutation_p.R9Q NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 9 nucleus nucleic acid binding|zinc ion binding p.R9L(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AGCCCTGAACGGGATCCTCAC 0.547000 25 44 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138882232 138882232 + Nonsense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:138882232C>A ENST00000370557.1 - 8 1724 c.697G>T c.(697-699)Gag>Tag p.E233* ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E236*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.E236* Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 236 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GCAACAGCCTCAAGACTATTA 0.368000 35 68 2.40579e-17 2.60801e-17 1 1 0 NRAP 4892 broad.mit.edu 37 10 115410306 115410306 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:115410306T>C ENST00000369358.4 - 8 920 c.e8-2 NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site Q86VF7 NRAP_HUMAN nebulin-related anchoring protein fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTATCTCACCTGAAATGAAAA 0.458000 19 41 0 0 1 0 0 JMJD4 65094 broad.mit.edu 37 1 227922791 227922791 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:227922791T>C ENST00000366758.3 - 1 321 c.322A>G c.(322-324)Acg>Gcg p.T108A SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.T108A|SNAP47_ENST00000366760.1_Intron NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 108 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) CAGCCCTGCGTGAAGGCGCTG 0.721000 4 16 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196733483 196733483 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:196733483G>A ENST00000296350.5 - 14 1988 c.1875C>T c.(1873-1875)caC>caT p.H625H NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 625 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CCATCACGGCGTGGGGTGGTA 0.627000 17 39 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364532 10364532 + Missense_Mutation SNP C C T rs146807975 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:10364532C>T ENST00000377093.4 + 21 3442 c.3289C>T c.(3289-3291)Cgt>Tgt p.R1097C KIF1B_ENST00000377083.1_Missense_Mutation_p.R1097C|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCATCAACACCGTCAGTCTTA 0.507000 39 59 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74363524 74363524 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:74363524G>A ENST00000355773.5 - 1 354 c.86C>T c.(85-87)gCc>gTc p.A29V SLC17A5_ENST00000393019.3_Missense_Mutation_p.A29V NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 29 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACCGGCTTCGGCCCGTGGGGC 0.726000 13 4 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46815488 46815488 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:46815488C>T ENST00000339613.2 + 7 928 c.673C>T c.(673-675)Ctg>Ttg p.L225L HIF3A_ENST00000300862.3_Silent_p.L279L|HIF3A_ENST00000244303.6_Silent_p.L212L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Silent_p.L230L|HIF3A_ENST00000600383.1_Silent_p.L212L|HIF3A_ENST00000472815.1_Silent_p.L212L|HIF3A_ENST00000377670.4_Silent_p.L281L Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 281 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) CATCCACGCGCTGGACTCCGA 0.612000 58 86 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581004 1581004 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:1581004G>A ENST00000421627.2 + 5 1496 c.1362G>A c.(1360-1362)gcG>gcA p.A454A NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 533 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.A476A(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGAGCGAGGCGGAGATCAATG 0.572000 27 23 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740148 37740148 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:37740148C>T ENST00000539465.1 + 15 2216 c.1623C>T c.(1621-1623)gaC>gaT p.D541D FRMPD1_ENST00000377765.3_Silent_p.D541D|FRMPD1_ENST00000536622.1_Silent_p.D363D|FRMPD1_ENST00000541302.1_Silent_p.D410D|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 541 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTCTCTCTGACAGGCGCCTGG 0.587000 49 88 0 0 1 0 0 APOA5 0 broad.mit.edu 37 11 116661100 116661100 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:116661100C>T ENST00000542499.1 - 4 917 c.845G>A c.(844-846)cGc>cAc p.R282H APOA5_ENST00000227665.4_Missense_Mutation_p.R282H NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 282 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) AAGTCGCTGGCGCACCTCCTC 0.652000 50 75 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1748922 1748922 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:1748922G>A ENST00000397196.2 + 4 633 c.401G>A c.(400-402)cGc>cAc p.R134H WNT5B_ENST00000310594.3_Missense_Mutation_p.R134H|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Missense_Mutation_p.R134H NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 134 R -> S (in Ref. 1; AAG38659). angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CGGGCCTGCCGCGAGGGCGAG 0.731000 4 15 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50255979 50255979 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:50255979A>G ENST00000338821.5 - 15 1835 c.1571T>C c.(1570-1572)aTg>aCg p.M524T ATP9A_ENST00000402822.1_Missense_Mutation_p.M403T|ATP9A_ENST00000311637.5_Missense_Mutation_p.M388T NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 524 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCTCAGCTGCATGGAAGACTG 0.552000 OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 100 0 0 1 0 0 MLK4 0 broad.mit.edu 37 1 233515338 233515338 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:233515338A>G ENST00000366624.3 + 9 2847 c.2586A>G c.(2584-2586)tcA>tcG p.S862S MLK4_ENST00000366622.1_Silent_p.S308S NM_032435.2 NP_115811.2 GTAGTGTATCAAGAAACTTGC 0.498000 7 72 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611442 17611442 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:17611442G>A ENST00000381869.3 - 2 2348 c.1875C>T c.(1873-1875)tgC>tgT p.C625C MTUS1_ENST00000262102.6_Silent_p.C625C|MTUS1_ENST00000519263.1_Silent_p.C625C|MTUS1_ENST00000381862.3_Silent_p.C625C NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 625 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) ACCCGGTCTCGCATGCTGAGT 0.433000 79 219 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42333926 42333926 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:42333926T>C ENST00000217026.4 + 9 1560 c.1433T>C c.(1432-1434)gTg>gCg p.V478A MYBL2_ENST00000396863.4_Missense_Mutation_p.V454A NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 478 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCCACCCCAGTGTGCAGCCAG 0.557000 28 67 0 0 1 0 0 NAT16 375607 broad.mit.edu 37 7 100816662 100816662 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:100816662T>C ENST00000300303.2 - 3 690 c.452A>G c.(451-453)cAc>cGc p.H151R NAT16_ENST00000455377.1_Missense_Mutation_p.H151R NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 151 N-acetyltransferase. N-acetyltransferase activity GACCCCCGGGTGCTGTCTCTT 0.692000 19 27 0 0 1 0 0 GPR61 0 broad.mit.edu 37 1 110086356 110086356 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:110086356G>T ENST00000527748.1 + 2 1395 c.712G>T c.(712-714)Gct>Tct p.A238S RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 238 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GGCCCGCGTGGCTGCCATGCA 0.617000 98 159 1.94071e-40 2.1933e-40 1 1 0 OR1L1 26737 broad.mit.edu 37 9 125424190 125424190 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:125424190C>T ENST00000373686.1 + 1 346 c.346C>T c.(346-348)Ctg>Ttg p.L116L Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TCTAAGCATCCTGTCTTTTGT 0.453000 44 75 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27494154 27494154 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:27494154C>T ENST00000396271.3 - 11 1554 c.1428G>A c.(1426-1428)ttG>ttA p.L476L ACBD5_ENST00000375905.4_Silent_p.L441L|ACBD5_ENST00000375901.1_Silent_p.L367L|ACBD5_ENST00000375897.3_Silent_p.L299L|ACBD5_ENST00000375888.1_Silent_p.L485L|ACBD5_ENST00000476758.1_5'UTR NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 485 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GAGCAGTCTGCAATGTTGATG 0.313000 34 63 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502395 20502395 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:20502395C>A ENST00000315693.2 - 1 524 c.523G>T c.(523-525)Gac>Tac p.D175Y NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAAAAGCTGTCTATAACATTG 0.473000 38 58 1.30998e-17 1.42185e-17 1 1 0 ATAD2 29028 broad.mit.edu 37 8 124382144 124382144 + Missense_Mutation SNP T T C rs150184958 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:124382144T>C ENST00000287394.5 - 7 955 c.848A>G c.(847-849)gAa>gGa p.E283G ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 283 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) tccatcttcttcatcttcatc 0.368000 26 17 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884026 24884026 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:24884026C>T ENST00000382554.3 + 9 3389 c.3071C>T c.(3070-3072)gCg>gTg p.A1024V NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1024 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 TCTTCGCTGGCGTCAGTGTTC 0.627000 28 30 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219883883 219883883 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:219883883G>A ENST00000341552.5 - 21 3575 c.3492C>T c.(3490-3492)ccC>ccT p.P1164P CCDC108_ENST00000453220.1_Silent_p.P1164P|CCDC108_ENST00000441968.1_Silent_p.P1164P NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1164 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGTGAGGACGGGGGGGATCT 0.612000 39 61 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108203563 108203563 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:108203563C>T ENST00000281092.4 + 6 961 c.577C>T c.(577-579)Cag>Tag p.Q193* FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193* NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 193 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GAAAGGGGCACAGCTCCATCA 0.403000 17 41 0 0 1 0 0 PELI3 246330 broad.mit.edu 37 11 66241352 66241352 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:66241352T>C ENST00000349459.6 + 6 1008 c.724T>C c.(724-726)Tac>Cac p.Y242H PELI3_ENST00000524466.1_Missense_Mutation_p.Y266H|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.Y266H NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 266 cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 TGGGAATGTGTACACATTGCG 0.652000 9 110 0 0 1 0 0 USP20 0 broad.mit.edu 37 9 132630693 132630693 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:132630693C>A ENST00000315480.4 + 11 1258 c.1100C>A c.(1099-1101)cCg>cAg p.P367Q USP20_ENST00000372429.3_Missense_Mutation_p.P367Q|USP20_ENST00000358355.1_Missense_Mutation_p.P367Q Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 367 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GCCCAGCCCCCGTCACCACGG 0.677000 33 62 4.74835e-14 5.09084e-14 1 1 0 OPRK1 4986 broad.mit.edu 37 8 54163550 54163550 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:54163550G>A ENST00000265572.3 - 2 345 c.48C>T c.(46-48)tgC>tgT p.C16C OPRK1_ENST00000520287.1_Silent_p.C16C NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 16 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CGCTCGGGGCGCAGGTAGGGC 0.741000 17 33 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128843292 128843292 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:128843292G>T ENST00000249373.3 + 2 679 c.399G>T c.(397-399)aaG>aaT p.K133N NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 133 FZ. adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ACATGCCCAAGTGTGAGAATG 0.672000 Mis skin basal cell 3 3 0.115264 0.11566 1 1 0 PFN2 5217 broad.mit.edu 37 3 149684300 149684300 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:149684300T>C ENST00000239940.7 - 3 651 c.399A>G c.(397-399)aaA>aaG p.K133K PFN2_ENST00000481767.1_Intron|PFN2_ENST00000489155.1_Silent_p.K84K|PFN2_ENST00000490975.1_Silent_p.K118K|PFN2_ENST00000497148.1_Silent_p.K84K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000475518.1_Silent_p.K84K|PFN2_ENST00000481275.1_Silent_p.K84K|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000498307.1_Silent_p.K84K P35080 PROF2_HUMAN profilin 2 133 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTCTCAAGTATTTTGCCATTG 0.393000 269 327 0 0 1 0 0 PROCA1 147011 broad.mit.edu 37 17 27031790 27031790 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:27031790C>T ENST00000301039.2 - 2 356 c.163G>A c.(163-165)Gcc>Acc p.A55T PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 83 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CAGTCAGAGGCGAAAGGGTAG 0.592000 31 44 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4798393 4798393 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:4798393C>T ENST00000355280.6 + 25 3137 c.2941C>T c.(2941-2943)Cgg>Tgg p.R981W MINK1_ENST00000453408.3_Missense_Mutation_p.R961W|MINK1_ENST00000347992.7_Missense_Mutation_p.R952W NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 981 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 AGAGGGCACTCGGCTCGACCA 0.597000 21 36 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164712126 164712126 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:164712126T>C ENST00000264382.3 - 41 4822 c.4760A>G c.(4759-4761)tAc>tGc p.Y1587C NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1587 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAATAAGGTGTATCTAATATT 0.348000 HNSCC(35;0.089) 30 27 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134941910 134941910 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:134941910A>G ENST00000607359.1 + 16 2735 c.2735A>G c.(2734-2736)tAc>tGc p.Y912C GPR123_ENST00000392606.2_Missense_Mutation_p.Y96C|GPR123_ENST00000392607.3_Missense_Mutation_p.Y193C Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 193 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) ACCTGTGTGTACTTCCTGGGC 0.701000 20 22 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783143 115783143 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:115783143C>T ENST00000343348.6 - 19 3046 c.2259G>A c.(2257-2259)acG>acA p.T753T SEMA6A_ENST00000513137.1_Silent_p.T180T|SEMA6A_ENST00000282394.6_Silent_p.T230T|SEMA6A_ENST00000510263.1_Silent_p.T753T|SEMA6A_ENST00000503865.1_Silent_p.T132T|SEMA6A_ENST00000257414.8_Silent_p.T770T NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 753 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGGGGAGGGCCGTCAGGTCCA 0.632000 172 144 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128410948 128410948 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:128410948T>C ENST00000368227.3 - 8 1718 c.1352A>G c.(1351-1353)cAg>cGg p.Q451R PTPRK_ENST00000368215.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q451R|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q451R|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q451R Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 451 Fibronectin type-III 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CACAACATGCTGAGGGGCTTT 0.468000 91 48 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30521243 30521243 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:30521243G>A ENST00000376621.3 - 6 1662 c.692C>T c.(691-693)cCg>cTg p.P231L NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 231 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 AAGAGCTGGCGGGGCCAGATC 0.542000 104 73 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887559 23887559 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:23887559C>T ENST00000355349.3 - 30 4191 c.4029G>A c.(4027-4029)ctG>ctA p.L1343L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1343 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ACTGCTCCCGCAGCAGGTCGC 0.657000 40 60 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72822572 72822572 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:72822572C>T ENST00000268489.5 - 10 10275 c.9603G>A c.(9601-9603)caG>caA p.Q3201Q ZFHX3_ENST00000397992.5_Silent_p.Q2287Q NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3201 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gttgctgctgctgctgctgct 0.652000 89 117 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26116151 26116151 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:26116151A>G ENST00000381655.2 + 9 888 c.746A>G c.(745-747)gAc>gGc p.D249G ATP8A2_ENST00000255283.8_Missense_Mutation_p.D209G NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 209 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CACCTCTATGACTTCACTGGA 0.393000 28 33 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47260141 47260141 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:47260141C>T ENST00000318584.5 + 4 1731 c.1434C>T c.(1432-1434)atC>atT p.I478I FKRP_ENST00000391909.3_Silent_p.I478I|FKRP_ENST00000600646.1_Intron NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 478 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) CCGGGGTCATCGAGAACCCCC 0.637000 9 11 0 0 1 0 0 NUDT14 256281 broad.mit.edu 37 14 105643364 105643364 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:105643364G>A ENST00000392568.2 - 3 219 c.125_splice c.e3-1 p.S42_splice RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 42 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GAACGGTCACGCTGTGTACGG 0.632000 HNSCC(42;0.11) 16 18 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 6 38 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68215288 68215288 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:68215288T>C ENST00000347230.4 - 42 7623 c.7485A>G c.(7483-7485)tcA>tcG p.S2495S NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2495 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGTGGCCCGTGAGTGTTCTT 0.562000 36 54 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105965735 105965735 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:105965735G>T ENST00000357060.3 - 7 1064 c.949C>A c.(949-951)Ctg>Atg p.L317M WDR96_ENST00000369719.1_Missense_Mutation_p.L248M|WDR96_ENST00000369720.1_Missense_Mutation_p.L248M|WDR96_ENST00000278064.2_Missense_Mutation_p.L248M|WDR96_ENST00000428666.1_Missense_Mutation_p.L318M NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 317 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCAGAAGCCAGCACGCCCTCC 0.328000 27 10 2.80507e-11 2.98188e-11 1 1 0 GRB7 2886 broad.mit.edu 37 17 37899524 37899524 + Silent SNP C C T rs145171655 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:37899524C>T ENST00000309156.4 + 5 812 c.555C>T c.(553-555)ttC>ttT p.F185F GRB7_ENST00000445327.2_Silent_p.F208F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Silent_p.F185F|GRB7_ENST00000394211.3_Silent_p.F185F|GRB7_ENST00000309185.3_Silent_p.F185F|GRB7_ENST00000394204.1_Silent_p.F185F NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 185 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGAAAAACTTCGCCAAGTACG 0.617000 50 51 0 0 1 0 0 RP11-472B18.1 0 broad.mit.edu 37 4 39482626 39482626 + RNA SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:39482626G>A ENST00000513652.1 + 0 633 CATTTTAATCGTGATGGATTC 0.468000 26 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179575969 179575969 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:179575969C>T ENST00000589042.1 - 97 28218 c.27994G>A c.(27994-27996)Gtg>Atg p.V9332M TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8088M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V9015M|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9015 Ig-like 76. 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) TACCAAGACACGGAGATAGGT 0.393000 63 124 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136990430 136990430 + Missense_Mutation SNP G G C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:136990430G>C ENST00000359015.4 - 8 1717 c.1357C>G c.(1357-1359)Cgg>Ggg p.R453G NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 453 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCAACTTTCCGGAGCTCAAAG 0.393000 41 105 0 0 1 0 0 MSL3P1 0 broad.mit.edu 37 2 234775123 234775123 + RNA SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:234775123C>T ENST00000438684.1 - 0 991 NR_024322.1 CCCTTCCTGGCTAGGAGTCAG 0.502000 25 57 0 0 1 0 0 MRI1 84245 broad.mit.edu 37 19 13879657 13879657 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:13879657C>T ENST00000319545.8 + 5 660 c.603C>T c.(601-603)gaC>gaT p.D201D MRI1_ENST00000040663.6_Silent_p.D248D NM_032285.2 NP_115661.1 Q9BV20 MTNA_HUMAN methylthioribose-1-phosphate isomerase 1 248 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 TGGGAGCTGACCGCGTGGTTG 0.647000 10 29 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8579029 8579029 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:8579029A>G ENST00000157600.3 + 3 522 c.290A>G c.(289-291)aAc>aGc p.N97S LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.N97S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N24S|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 97 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TACAAGAGGAACCGGATGATC 0.537000 110 128 0 0 1 0 0 TSPAN9 10867 broad.mit.edu 37 12 3392257 3392257 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:3392257G>A ENST00000011898.5 + 9 856 c.695G>A c.(694-696)cGg>cAg p.R232Q TSPAN9_ENST00000537971.1_Missense_Mutation_p.R232Q NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 232 integral to plasma membrane|membrane fraction endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) CACATCCACCGGACTGGTAAG 0.637000 4 106 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17691986 17691986 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:17691986G>A ENST00000252599.4 + 12 1722 c.1601_splice c.e12-1 p.V534_splice NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 CTCCCCCCAGGTCCGAGTACA 0.592000 172 270 0 0 1 0 0 OLFM1 10439 broad.mit.edu 37 9 138011985 138011985 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:138011985C>T ENST00000252854.4 + 6 1552 c.1365C>T c.(1363-1365)aaC>aaT p.N455N OLFM1_ENST00000371793.3_Silent_p.N473N|OLFM1_ENST00000371796.3_Silent_p.N446N NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 473 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TCCTCTACAACGTGACCCTCT 0.572000 23 43 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127335929 127335929 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:127335929C>T ENST00000265056.7 + 10 1985 c.1741C>T c.(1741-1743)Cga>Tga p.R581* NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 581 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TCTGGCTGACCGAGGAGTGTG 0.647000 82 98 0 0 1 0 0 TTC22 55001 broad.mit.edu 37 1 55266305 55266305 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:55266305C>T ENST00000371276.4 - 1 635 c.532G>A c.(532-534)Gcg>Acg p.A178T TTC22_ENST00000371274.4_Missense_Mutation_p.A178T NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 178 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 TCGTAGAGCGCGATGCCTGCC 0.701000 9 7 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2160364 2160364 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:2160364G>A ENST00000262304.4 - 15 5012 c.4804C>T c.(4804-4806)Cgc>Tgc p.R1602C PKD1_ENST00000423118.1_Missense_Mutation_p.R1602C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1602 PKD 11. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCCACGGAGCGGAAGGTGTAA 0.612000 43 54 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44057626 44057626 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:44057626C>A ENST00000262887.5 - 6 1075 c.528G>T c.(526-528)aaG>aaT p.K176N XRCC1_ENST00000543982.1_Missense_Mutation_p.K145N|L34079.3_ENST00000597119.1_RNA P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 176 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) CATCCTCCTCCTTCACACGGA 0.597000 Other BER factors 42 55 3.54561e-26 3.96114e-26 1 1 0 MMRN1 22915 broad.mit.edu 37 4 90816607 90816607 + Missense_Mutation SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:90816607C>G ENST00000394980.1 + 2 804 c.485C>G c.(484-486)aCt>aGt p.T162S MMRN1_ENST00000394981.1_Missense_Mutation_p.T128S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T162S Q13201 MMRN1_HUMAN multimerin 1 162 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GTtggaggcactggaggcatt 0.507000 35 39 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933378 43933378 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:43933378C>T ENST00000537548.1 - 4 377 c.133G>A c.(133-135)Gtg>Atg p.V45M MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.V45M|MATN4_ENST00000360607.5_Missense_Mutation_p.V45M|MATN4_ENST00000372756.1_Missense_Mutation_p.V45M|MATN4_ENST00000353917.5_Missense_Mutation_p.V45M|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.V45M O95460 MATN4_HUMAN matrilin 4 45 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AAAGGGCGCACGCTGCGGGAG 0.632000 19 41 0 0 1 0 0 NUP37 79023 broad.mit.edu 37 12 102468812 102468812 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:102468812G>A ENST00000552283.1 - 9 973 c.834C>T c.(832-834)agC>agT p.S278S NUP37_ENST00000251074.1_Silent_p.S278S Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 278 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TTTGAAACTGGCTTGCCATTT 0.343000 22 24 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38395909 38395909 + Missense_Mutation SNP C C T rs144062423 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:38395909C>T ENST00000377698.3 + 2 317 c.164C>T c.(163-165)cCg>cTg p.P55L NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 55 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AAGACCTTCCCGACGGTCAAC 0.597000 37 63 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200125 52200125 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:52200125A>G ENST00000354534.5 + 27 5033 c.4855A>G c.(4855-4857)Atc>Gtc p.I1619V SCN8A_ENST00000545061.1_Missense_Mutation_p.I1578V NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1619 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATTCCGAGTCATCCGATTGGC 0.458000 88 116 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 58767096 58767096 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:58767096T>C ENST00000589222.1 + 4 256 c.188T>C c.(187-189)gTc>gCc p.V63A BCAS3_ENST00000407086.3_Missense_Mutation_p.V63A|BCAS3_ENST00000408905.3_Missense_Mutation_p.V63A|BCAS3_ENST00000588462.1_Missense_Mutation_p.V63A|BCAS3_ENST00000390652.5_Missense_Mutation_p.V63A Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 63 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ATAGTCTGGGTCAGATTTGAA 0.328000 19 30 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694816 109694816 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:109694816T>C ENST00000465301.2 + 3 1217 c.971T>C c.(970-972)cTa>cCa p.L324P RGAG1_ENST00000540313.1_Missense_Mutation_p.L324P NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 324 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TCCACACCGCTACTGTCAGTC 0.502000 36 364 0 0 1 0 0 RNF169 254225 broad.mit.edu 37 11 74547475 74547475 + Missense_Mutation SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:74547475C>G ENST00000299563.4 + 6 1840 c.1827C>G c.(1825-1827)agC>agG p.S609R NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 609 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 TAGTTGAGAGCCTAAGTGAAG 0.423000 35 65 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77920439 77920439 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:77920439G>A ENST00000553888.1 - 2 517 c.7C>T c.(7-9)Cgg>Tgg p.R3W VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog CCCTTTGTCCGATTCATCTAC 0.453000 29 28 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49845739 49845739 + Nonsense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:49845739G>A ENST00000377214.4 - 10 1557 c.1195C>T c.(1195-1197)Cga>Tga p.R399* TEAD2_ENST00000598810.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.R268*|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000601519.1_Nonsense_Mutation_p.R399*|TEAD2_ENST00000311227.2_Nonsense_Mutation_p.R396* Q15562 TEAD2_HUMAN TEA domain family member 2 396 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) ATCATGTATCGCTCAGGCAGC 0.602000 41 54 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101442876 101442876 + RNA SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:101442876C>G ENST00000554693.2 + 0 548 SNORD114-19_ENST00000363072.1_RNA GTGTGTGGAACTCTGAGGTCC 0.323000 49 72 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101883155 101883155 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:101883155A>G ENST00000289382.3 + 5 1215 c.1052A>G c.(1051-1053)gAa>gGa p.E351G NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 GGTGAGTTGGAAAAAGACCCC 0.398000 65 80 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51069693 51069693 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:51069693T>C ENST00000402038.3 - 8 690 c.691A>G c.(691-693)Aca>Gca p.T231A NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 716 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGCAATCGTGTCAAGGGTTTT 0.358000 8 8 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62201259 62201259 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:62201259G>A ENST00000261517.5 - 65 8983 c.8910C>T c.(8908-8910)taC>taT p.Y2970Y VPS13C_ENST00000395898.3_Silent_p.Y2927Y|VPS13C_ENST00000249837.3_Silent_p.Y2927Y|VPS13C_ENST00000395896.4_Silent_p.Y2970Y NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2970 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATCCCTCATGGTAATCAGAAA 0.378000 24 30 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723549 49723549 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:49723549G>A ENST00000449682.2 - 9 1454 c.1093C>T c.(1093-1095)Cgc>Tgc p.R365C MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 351 proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGGCCGCGCGCATGCCGGGC 0.672000 17 15 0 0 1 0 0 RPUSD2 27079 broad.mit.edu 37 15 40861959 40861959 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:40861959G>T ENST00000315616.7 + 1 461 c.423G>T c.(421-423)aaG>aaT p.K141N RPUSD2_ENST00000559271.1_Splice_Site_p.K141_splice NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 141 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) GCCTGCGTAAGGTGCGGCCCT 0.607000 3 19 0.004672 0.00472589 1 1 0 CXorf21 80231 broad.mit.edu 37 X 30578299 30578299 + Nonsense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:30578299G>T ENST00000378962.3 - 3 496 c.174C>A c.(172-174)tgC>tgA p.C58* NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 58 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 CAGATGATTTGCAGCTCACGT 0.468000 101 134 1.61169e-53 1.82852e-53 1 1 0 MSH4 4438 broad.mit.edu 37 1 76262890 76262890 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:76262890G>A ENST00000263187.3 + 1 324 c.220G>A c.(220-222)Gcg>Acg p.A74T NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 74 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TCCCTGCCCCGCGCCAAACTC 0.672000 Mismatch excision repair (MMR) 7 7 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44139886 44139886 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:44139886A>G ENST00000416848.2 - 4 1714 c.1226T>C c.(1225-1227)cTg>cCg p.L409P PUS7L_ENST00000431332.3_Missense_Mutation_p.L96P|PUS7L_ENST00000344862.5_Missense_Mutation_p.L409P|PUS7L_ENST00000551923.1_Missense_Mutation_p.L409P NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 409 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TCTCTCCCTCAGGTTTGCAGA 0.338000 6 13 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91964840 91964840 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:91964840A>G ENST00000375807.3 + 13 1959 c.1888A>G c.(1888-1890)Agg>Ggg p.R630G SECISBP2_ENST00000339901.4_Missense_Mutation_p.R557G|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R562G NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 630 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CCGCAGATTCAGGGAGTGAGT 0.567000 30 38 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202570 53202570 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:53202570C>T ENST00000293774.4 - 5 1391 c.1121G>A c.(1120-1122)cGc>cAc p.R374H KRT4_ENST00000458244.2_Missense_Mutation_p.R280H|KRT4_ENST00000551956.1_Missense_Mutation_p.R300H B4DRS2 B4DRS2_HUMAN keratin 4 300 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GTCCAGGTTGCGGTTGTTGTC 0.592000 31 47 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24734837 24734837 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:24734837C>T ENST00000399409.3 - 16 2171 c.1688G>A c.(1687-1689)aGc>aAc p.S563N RABGGTA_ENST00000560777.1_Missense_Mutation_p.S172N|RABGGTA_ENST00000216840.6_Missense_Mutation_p.S563N NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 563 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GAGGACGCTGCTAACTGAAGG 0.582000 26 19 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29822253 29822253 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:29822253G>A ENST00000375398.2 - 10 1492 c.1043C>T c.(1042-1044)gCc>gTc p.A348V SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.A348V O95425 SVIL_HUMAN supervillin 348 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CCTATCAAAGGCTGAGTGCTC 0.572000 50 41 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56863330 56863330 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:56863330T>C ENST00000520220.2 + 6 685 c.411T>C c.(409-411)agT>agC p.S137S LYN_ENST00000519728.1_Silent_p.S158S NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 158 SH2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TTAGAGAAAGTGAAACATTAA 0.373000 25 122 0 0 1 0 0 PLCXD1 55344 broad.mit.edu 37 X 215973 215973 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:215973G>A ENST00000381657.2 + 7 1457 c.943G>A c.(943-945)Gcg>Acg p.A315T PLCXD1_ENST00000399012.1_Missense_Mutation_p.A315T|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A315T NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 315 intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGACGTCATCGCGCTCAATCA 0.617000 26 35 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29812587 29812587 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:29812587C>A ENST00000375398.2 - 17 3405 c.2956G>T c.(2956-2958)Gac>Tac p.D986Y SVIL_ENST00000375400.3_Missense_Mutation_p.D560Y|SVIL_ENST00000355867.4_Missense_Mutation_p.D986Y O95425 SVIL_HUMAN supervillin 986 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TTATGGCTGTCTCCTTCCCTG 0.532000 37 58 1.36161e-19 1.50017e-19 1 1 0 ZNFX1 57169 broad.mit.edu 37 20 47892343 47892343 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:47892343G>A ENST00000396105.1 - 2 280 c.34C>T c.(34-36)Ccc>Tcc p.P12S ZNFX1_ENST00000371752.1_Missense_Mutation_p.P12S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P12S NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 12 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAATTCCTGGGCCTGGCATCC 0.423000 24 63 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89617001 89617001 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:89617001C>T ENST00000268704.2 + 13 1778 c.1763C>T c.(1762-1764)aCg>aTg p.T588M NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 588 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CTGGAGCACACGGAGGCCGTG 0.612000 46 45 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32065702 32065702 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:32065702C>T ENST00000375244.3 - 2 475 c.274G>A c.(274-276)Gag>Aag p.E92K TNXB_ENST00000375247.2_Missense_Mutation_p.E92K|TNXB_ENST00000479795.1_Missense_Mutation_p.E92K P22105 TENX_HUMAN tenascin XB 92 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTGGGGGCTCGGTGCCTGGG 0.607000 28 17 0 0 1 0 0 GPR132 29933 broad.mit.edu 37 14 105518408 105518408 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:105518408C>T ENST00000329797.3 - 4 977 c.66G>A c.(64-66)ccG>ccA p.P22P GPR132_ENST00000392585.2_Silent_p.P13P|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.P22P NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 22 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GGGAGGCCCACGGGGCAGTGG 0.622000 65 70 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43473179 43473179 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:43473179C>A ENST00000532038.1 - 15 1892 c.1757G>T c.(1756-1758)cGt>cTt p.R586L ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R467L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R440L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R808L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R781L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R786L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R467L Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 808 PH. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CACCAAGTCACGCACACAGCG 0.692000 10 13 0.00621372 0.00627814 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134073201 134073201 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:134073201G>A ENST00000264360.4 + 1 2732 c.1906G>A c.(1906-1908)Ggg>Agg p.G636R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 636 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTGGCGCACCGGGGAGCTGCG 0.682000 43 67 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189255 29189255 + Splice_Site SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:29189255C>T ENST00000234961.2 + 3 821 c.577_splice c.e3-1 p.D193_splice NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 193 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GCGGCCCAGACGGGGCAGTGG 0.637000 20 23 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80356186 80356186 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:80356186C>T ENST00000313056.5 - 8 860 c.709G>A c.(709-711)Ggc>Agc p.G237S OGFOD3_ENST00000329197.5_Missense_Mutation_p.G237S NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 TCGAAGGAGCCGTAGGTCACC 0.572000 15 31 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52498467 52498467 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:52498467G>A ENST00000371614.1 - 1 1021 c.967C>T c.(967-969)Cgc>Tgc p.R323C TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 323 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 ATAAACTGGCGACGAAGGCGA 0.537000 63 61 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21484616 21484616 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:21484616C>T ENST00000313654.9 + 51 6814 c.6573C>T c.(6571-6573)gaC>gaT p.D2191D LAMA3_ENST00000269217.6_Silent_p.D582D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.D2135D|LAMA3_ENST00000587184.1_Silent_p.D526D NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2191 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGCCGAGGACGCAGCCAACA 0.582000 14 17 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40574467 40574467 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:40574467G>T ENST00000342449.3 - 38 4447 c.4369C>A c.(4369-4371)Ctc>Atc p.L1457I BRWD1_ENST00000333229.2_Missense_Mutation_p.L1457I|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1457I NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1457 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTCGGCTTGAGGTTTCTGGCC 0.358000 12 19 3.07112e-06 3.17614e-06 1 1 0 CRNN 49860 broad.mit.edu 37 1 152384693 152384693 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:152384693T>C ENST00000271835.3 - 2 79 c.17A>G c.(16-18)cAa>cGa p.Q6R RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 6 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATTAATGTTTTGCAGTAACTG 0.493000 67 87 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445609 87445609 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:87445609A>C ENST00000268616.4 - 12 2524 c.2307T>G c.(2305-2307)caT>caG p.H769Q NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 769 His-rich. cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGGGCTGCtgatggtggtggt 0.667000 25 30 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47811722 47811722 + Splice_Site SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:47811722C>A ENST00000285106.6 - 6 1354 c.e6-1 CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000589940.1_Splice_Site NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 TGTACGATTCCTGTGCCGGCA 0.672000 25 42 2.44723e-14 2.62695e-14 1 1 0 GAS2L2 246176 broad.mit.edu 37 17 34074161 34074161 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:34074161G>T ENST00000254466.6 - 5 986 c.959C>A c.(958-960)cCt>cAt p.P320H GAS2L2_ENST00000587565.1_Missense_Mutation_p.P304H NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 320 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGTCCACAGGGGGTGGTGG 0.652000 70 98 4.79706e-38 5.40055e-38 1 1 0 MORC1 27136 broad.mit.edu 37 3 108812302 108812302 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:108812302T>C ENST00000232603.5 - 8 752 c.670A>G c.(670-672)Atg>Gtg p.M224V MORC1_ENST00000483760.1_Missense_Mutation_p.M224V NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 224 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GCTCCAGCCATCAGTATATCT 0.423000 22 31 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227661891 227661891 + Nonsense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:227661891G>A ENST00000305123.4 - 1 2584 c.1564C>T c.(1564-1566)Cga>Tga p.R522* NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 522 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GTTCTCTTTCGGAACCGATTA 0.577000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 59 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676360 52676360 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:52676360C>T ENST00000355568.4 - 10 817 c.678G>A c.(676-678)ccG>ccA p.P226P NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 226 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAGAAAACCCCGGAGATATTG 0.423000 112 151 0 0 1 0 0 MEIOB 254528 broad.mit.edu 37 16 1891830 1891830 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:1891830C>T ENST00000412554.2 - 11 1219 c.1025G>A c.(1024-1026)cGa>cAa p.R342Q MEIOB_ENST00000470044.1_Missense_Mutation_p.R135Q|MEIOB_ENST00000452149.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000325962.3_Missense_Mutation_p.R342Q|MEIOB_ENST00000397344.3_Missense_Mutation_p.R342Q|LA16c-429E7.1_ENST00000570247.1_RNA NM_001163560.2 NP_001157032.1 meiosis specific with OB domains CCATCTATTTCGAACTACTTT 0.313000 13 14 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252292 145252292 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:145252292C>T ENST00000377976.1 - 1 239 c.240G>A c.(238-240)ctG>ctA p.L80L NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 80 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 TCTGAGCAGTCAGCTTAGGGG 0.517000 42 66 0 0 1 0 0 ROGDI 79641 broad.mit.edu 37 16 4848176 4848176 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:4848176C>T ENST00000322048.7 - 8 919 c.541G>A c.(541-543)Gcc>Acc p.A181T ROGDI_ENST00000586336.1_5'UTR NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 181 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 AGGGCAGGGGCGAACATCCGC 0.652000 7 25 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240601375 240601375 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:240601375C>T ENST00000319653.9 + 16 5155 c.4925C>T c.(4924-4926)aCg>aTg p.T1642M FMN2_ENST00000545751.1_Missense_Mutation_p.T238M NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1642 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTGGAGACCACGGCATATTTC 0.378000 38 77 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94408154 94408154 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:94408154C>T ENST00000260731.3 + 19 2823 c.2733C>T c.(2731-2733)tgC>tgT p.C911C NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 911 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCTTAATTGCTTTCTGGAAC 0.299000 30 94 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69009342 69009342 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:69009342G>A ENST00000288368.4 + 22 2736 c.2459G>A c.(2458-2460)gGt>gAt p.G820D PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 820 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.G820A(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTGGAATATGGTGTCGTGTAT 0.453000 121 44 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928979 4928979 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:4928979A>G ENST00000359350.4 + 1 380 c.380A>G c.(379-381)cAc>cGc p.H127R MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTGCCATTCACAATCCCTTA 0.403000 34 44 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121190985 121190985 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:121190985T>C ENST00000264233.5 - 22 6698 c.6570A>G c.(6568-6570)ttA>ttG p.L2190L NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2190 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GTAAAGGATGTAATGCCTTTA 0.348000 DNA polymerases (catalytic subunits) 15 27 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101163312 101163312 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:101163312G>A ENST00000370508.5 - 7 900 c.873C>T c.(871-873)atC>atT p.I291I GOT1_ENST00000543866.1_Silent_p.I270I NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 291 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TAATCCGCACGATCTTCTCCA 0.537000 93 67 0 0 1 0 0 SDAD1P1 0 broad.mit.edu 37 8 26236877 26236877 + RNA SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:26236877C>T ENST00000519902.1 - 0 3071 TAGCATTCTTCTTGGAATGGA 0.343000 5 17 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508511 106508511 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:106508511C>T ENST00000359195.3 + 2 815 c.505C>T c.(505-507)Cac>Tac p.H169Y PIK3CG_ENST00000440650.2_Missense_Mutation_p.H169Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H169Y NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 169 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CAGCAACGTGCACGACGATGA 0.677000 30 18 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045754 26045754 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:26045754C>A ENST00000540144.1 + 1 116 c.116C>A c.(115-117)cCt>cAt p.P39H NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 39 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GTGAAGAAACCTCATCGCTAC 0.637000 80 50 5.04879e-28 5.6549e-28 1 1 0 MRPS2 51116 broad.mit.edu 37 9 138392884 138392884 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:138392884G>A ENST00000371785.1 + 3 293 c.84G>A c.(82-84)aaG>aaA p.K28K MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.K28K|C9orf116_ENST00000371791.1_Intron Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 28 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) TTCTCGGGAAGGCGACCCCCC 0.711000 17 25 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101768587 101768587 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:101768587G>A ENST00000261637.4 + 55 7307 c.7131_splice c.e55-1 p.R2378_splice NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2378 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TTTTGGTAGCGCTTAAATAGA 0.398000 44 99 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92604647 92604647 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:92604647C>T ENST00000298875.4 + 7 902 c.617C>T c.(616-618)aCa>aTa p.T206I NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 206 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TTCAATGCTACATATGTACAG 0.333000 4 63 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10825100 10825100 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:10825100A>G ENST00000526148.1 - 9 1250 c.740T>C c.(739-741)aTg>aCg p.M247T EIF4G2_ENST00000396525.2_Missense_Mutation_p.M247T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M247T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M247T NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 247 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ATCCTCTCCCATATCTTTGAG 0.423000 29 51 0 0 1 0 0 NAA10 8260 broad.mit.edu 37 X 153196294 153196294 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:153196294A>T ENST00000464845.1 - 7 711 c.393T>A c.(391-393)agT>agA p.S131R NAA10_ENST00000370009.1_Missense_Mutation_p.S116R|NAA10_ENST00000393712.3_Missense_Mutation_p.S131R|NAA10_ENST00000370015.4_Missense_Mutation_p.S131R NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 131 N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 GCTCCACTTCACTGATCCTGG 0.587000 64 98 0 0 1 0 0 GEM 2669 broad.mit.edu 37 8 95264399 95264399 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:95264399A>G ENST00000297596.2 - 4 725 c.461T>C c.(460-462)cTg>cCg p.L154P GEM_ENST00000396194.2_Missense_Mutation_p.L154P NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 154 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTAGACAATCAGGTATGCGTC 0.517000 25 137 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63884829 63884829 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:63884829C>T ENST00000246841.3 + 2 2133 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 336 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 TGAGAAGGTCCGGGGCATGGC 0.657000 43 53 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19255993 19255993 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:19255993G>A ENST00000527884.1 - 6 1074 c.842C>T c.(841-843)aCg>aTg p.T281M RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T281M NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 281 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TATCTGAGGCGTTGACACCAA 0.403000 82 105 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140564303 140564303 + Silent SNP C C T rs144790293 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140564303C>T ENST00000361016.2 + 1 3324 c.2169C>T c.(2167-2169)ggC>ggT p.G723G NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 723 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCGGTGGGCCGCTGCTCGA 0.662000 152 145 0 0 1 0 0 NOXO1 0 broad.mit.edu 37 16 2030447 2030447 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:2030447G>A ENST00000354249.4 - 4 688 c.319C>T c.(319-321)Cgc>Tgc p.R107C NOXO1_ENST00000566005.1_Missense_Mutation_p.R112C|NOXO1_ENST00000397280.4_Missense_Mutation_p.R113C|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Missense_Mutation_p.R108C NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2 NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 113 PX. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity lung(2) 2 CGTGCCACGCGCTCTGCAGTC 0.687000 34 52 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914501 147914501 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:147914501G>A ENST00000361727.3 + 19 3648 c.3132G>A c.(3130-3132)ccG>ccA p.P1044P CNTNAP2_ENST00000538075.1_Silent_p.P103P NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1044 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.P1044P(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTCCCACCCGGACCTGGCAC 0.562000 HNSCC(39;0.1) 51 66 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219895832 219895832 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:219895832A>G ENST00000341552.5 - 8 1094 c.1011T>C c.(1009-1011)gcT>gcC p.A337A CCDC108_ENST00000453220.1_Silent_p.A337A|CCDC108_ENST00000410037.1_Silent_p.A272A|CCDC108_ENST00000409865.3_Silent_p.A326A|CCDC108_ENST00000441968.1_Silent_p.A337A NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 337 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCACCCACAGCCTGCAGCT 0.677000 4 6 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5661692 5661692 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:5661692G>A ENST00000292123.5 + 15 2133 c.2026G>A c.(2026-2028)Gtg>Atg p.V676M SAFB_ENST00000538656.1_Missense_Mutation_p.V518M|SAFB_ENST00000454510.1_Missense_Mutation_p.V607M|SAFB_ENST00000433404.1_Missense_Mutation_p.V506M|SAFB_ENST00000592224.1_Missense_Mutation_p.V675M|SAFB_ENST00000588852.1_Missense_Mutation_p.V676M NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 676 Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) ACGCATGCACGTGGAGCACGA 0.711000 12 19 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97846804 97846804 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:97846804G>A ENST00000447648.2 - 26 3695 c.3396C>T c.(3394-3396)gaC>gaT p.D1132D TECPR1_ENST00000379795.3_Silent_p.D1134D Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 1132 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGAGATATGGTCCCAGCCTC 0.682000 11 11 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23914022 23914022 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:23914022A>G ENST00000382298.3 - 10 4581 c.3993T>C c.(3991-3993)caT>caC p.H1331H SACS_ENST00000382292.3_Silent_p.H1331H|SACS_ENST00000402364.1_Silent_p.H581H NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1331 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCATGGAAATATGATCTGATG 0.338000 18 19 0 0 1 0 0 HOXD1 3231 broad.mit.edu 37 2 177053603 177053603 + Missense_Mutation SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:177053603C>G ENST00000331462.4 + 1 297 c.74C>G c.(73-75)cCc>cGc p.P25R HOXD-AS1_ENST00000413969.1_RNA NM_024501.1 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 25 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) AGCTTGGCACCCAAGTTCTGC 0.706000 10 15 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4836674 4836674 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:4836674G>A ENST00000329125.5 + 2 850 c.775G>A c.(775-777)Gtg>Atg p.V259M NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 259 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 GACCTCTAACGTGGCCAGTGT 0.502000 47 62 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 107008716 107008716 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:107008716A>C ENST00000369066.3 + 17 5157 c.4670A>C c.(4669-4671)cAg>cCg p.Q1557P AIM1_ENST00000535438.1_Missense_Mutation_p.Q376P NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1557 Beta/gamma crystallin 'Greek key' 12. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGAGGGCGACAGTTCCTATTG 0.403000 87 57 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147113791 147113791 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:147113791G>A ENST00000383075.3 - 3 1048 c.536C>T c.(535-537)cCg>cTg p.P179L ZIC4_ENST00000473123.1_Missense_Mutation_p.P179L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P229L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P217L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P179L NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 179 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 TCCCTGGCGCGGACACTCCTC 0.587000 25 190 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27406980 27406980 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:27406980T>C ENST00000379214.4 - 5 880 c.437A>G c.(436-438)gAg>gGg p.E146G LGR4_ENST00000389858.4_Missense_Mutation_p.E122G|LGR4_ENST00000480977.2_Missense_Mutation_p.E98G NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 146 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 AAAACTGTCCTCGGGGACTGA 0.473000 22 28 0 0 1 0 0 TSPAN16 26526 broad.mit.edu 37 19 11409591 11409591 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:11409591C>T ENST00000316737.1 + 3 461 c.311C>T c.(310-312)gCt>gTt p.A104V TSPAN16_ENST00000590327.1_Missense_Mutation_p.A104V|TSPAN16_ENST00000592955.1_Intron NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 104 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 GAAGTTACAGCTGCCACAGTG 0.512000 30 69 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60059865 60059865 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:60059865T>C ENST00000397786.2 - 16 3575 c.3499A>G c.(3499-3501)Agg>Ggg p.R1167G NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1167 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GAGGTAGCCCTGAGAGCTTCA 0.348000 43 55 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785404 134785404 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:134785404T>C ENST00000537858.1 - 2 426 c.226A>G c.(226-228)Aag>Gag p.K76E NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 76 FHA. breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCAGGGCCTTGAGGCAGAAG 0.662000 115 95 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885771 88885771 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:88885771C>T ENST00000319675.3 - 1 525 c.429G>A c.(427-429)ctG>ctA p.L143L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 143 p.L143L(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CGAAGCACAGCAGAAGGTGGG 0.562000 110 55 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23915781 23915781 + Missense_Mutation SNP C C T rs143677534 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:23915781C>T ENST00000382298.3 - 10 2822 c.2234G>A c.(2233-2235)cGt>cAt p.R745H SACS_ENST00000382292.3_Missense_Mutation_p.R745H|SACS_ENST00000402364.1_5'UTR NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 745 RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486). cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTTGATAAGACGTGCAAATCG 0.368000 20 30 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135960091 135960091 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:135960091G>A ENST00000562646.1 - 4 525 c.371C>T c.(370-372)tCa>tTa p.S124L RBMX_ENST00000320676.7_Missense_Mutation_p.S124L|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 124 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCCTCCCCGTGAGGGAGGTCC 0.547000 36 52 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33800116 33800116 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:33800116C>T ENST00000261326.5 + 9 1917 c.1896C>T c.(1894-1896)ccC>ccT p.P632P NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 632 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) AGCAGGAACCCCGGCTCTGCC 0.532000 25 48 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62297595 62297595 + Missense_Mutation SNP C C T rs139799392 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:62297595C>T ENST00000378024.4 - 5 4568 c.4294G>A c.(4294-4296)Gca>Aca p.A1432T AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1432 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTAGTTTTGCGTCTGGACCT 0.433000 111 186 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1729657 1729657 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:1729657C>T ENST00000313288.4 + 4 634 c.528C>T c.(526-528)ggC>ggT p.G176G NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 176 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AAGTGTCTGGCAGCCCTGAGC 0.552000 58 73 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61537778 61537778 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:61537778G>A ENST00000278836.5 + 5 617 c.521G>A c.(520-522)cGc>cAc p.R174H TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R165H NM_001127392.1 NP_001120864.1 myelin regulatory factor GTGCCCTCCCGCCTGGAGCAT 0.677000 9 10 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445612 87445612 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:87445612G>A ENST00000268616.4 - 12 2521 c.2304C>T c.(2302-2304)caC>caT p.H768H NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 768 His-rich. cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCTGCtgatggtggtggtggt 0.667000 26 30 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119592107 119592107 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:119592107G>A ENST00000267260.4 + 12 1839 c.1451G>A c.(1450-1452)cGt>cAt p.R484H NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 484 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GAGCGAGCGCGTCGGAGACGT 0.682000 8 20 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153588429 153588429 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:153588429C>A ENST00000422373.1 - 22 3982 c.3734G>T c.(3733-3735)aGc>aTc p.S1245I FLNA_ENST00000369850.3_Missense_Mutation_p.S1245I|FLNA_ENST00000344736.4_Missense_Mutation_p.S1245I|FLNA_ENST00000360319.4_Missense_Mutation_p.S1245I NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1245 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCAGCTTGCTGGGGAAGTT 0.632000 47 58 2.56175e-15 2.76001e-15 1 1 0 RERE 473 broad.mit.edu 37 1 8416169 8416169 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:8416169G>A ENST00000337907.3 - 22 5111 c.4477C>T c.(4477-4479)Cca>Tca p.P1493S RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1493S|RERE_ENST00000377464.1_Missense_Mutation_p.P1225S|RERE_ENST00000476556.1_Missense_Mutation_p.P939S NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1493 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1493T(1) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCGAAAACTGGGTGGCGAAGC 0.617000 115 161 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113067600 113067600 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:113067600T>C ENST00000409871.1 + 4 876 c.475T>C c.(475-477)Tac>Cac p.Y159H ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y159H NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 159 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CTTTGGTAACTACGGTCAGGA 0.363000 10 19 0 0 1 0 0 ANXA4 307 broad.mit.edu 37 2 70035051 70035051 + Missense_Mutation SNP A A G rs139920396 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:70035051A>G ENST00000394295.4 + 6 568 c.320A>G c.(319-321)gAt>gGt p.D107G ANXA4_ENST00000536030.1_Missense_Mutation_p.D23G|ANXA4_ENST00000409920.1_Missense_Mutation_p.D85G NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 105 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 GCCGGCACTGATGAGGGCTGC 0.552000 28 41 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686815 68686815 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:68686815T>C ENST00000361320.4 + 2 719 c.141T>C c.(139-141)tgT>tgC p.C47C CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 47 LRRNT. integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TGGTATATTGTGAATCTCAGA 0.423000 20 70 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35273866 35273866 + Silent SNP A A G rs151315389 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:35273866A>G ENST00000356321.4 - 3 2114 c.1770T>C c.(1768-1770)ggT>ggC p.G590G NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 590 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) GCCCGGTGCTACCAGGAATAA 0.438000 77 95 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30694992 30694992 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:30694992G>A ENST00000394670.4 + 10 1292 c.1123G>A c.(1123-1125)Gca>Aca p.A375T ZNF207_ENST00000577908.1_Missense_Mutation_p.A375T|ZNF207_ENST00000394673.2_Missense_Mutation_p.A344T|ZNF207_ENST00000342555.6_Missense_Mutation_p.A378T|ZNF207_ENST00000341711.6_Missense_Mutation_p.A276T|ZNF207_ENST00000321233.6_Missense_Mutation_p.A359T NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 359 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) AACAACTAGTGCAACCAGTAA 0.398000 37 62 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924173 105924173 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:105924173C>A ENST00000393359.2 - 2 1012 c.586G>T c.(586-588)Ggc>Tgc p.G196C TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G196C Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 196 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TGGGAGACGCCTGTGCTGTAA 0.622000 94 126 1.63847e-34 1.83751e-34 1 1 0 HIF1A 3091 broad.mit.edu 37 14 62207260 62207260 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:62207260G>T ENST00000394997.1 + 11 1842 c.1577G>T c.(1576-1578)aGt>aTt p.S526I HIF1A_ENST00000539097.1_Missense_Mutation_p.S549I|HIF1A_ENST00000337138.4_Missense_Mutation_p.S525I|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.S525I|HIF1A_ENST00000557538.1_Missense_Mutation_p.S466I|HIF1A-AS2_ENST00000554254.1_lincRNA Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 525 ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TATGTGGATAGTGATATGGTC 0.328000 28 31 5.61819e-17 6.0754e-17 1 1 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658461 72658461 + RNA SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:72658461C>A ENST00000425256.1 - 0 1450 NR_002164.1 atgaatatggccaactgggtg 0.433000 50 46 3.21987e-24 3.57899e-24 1 1 0 GNAQ 2776 broad.mit.edu 37 9 80343579 80343579 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:80343579C>T ENST00000286548.4 - 6 962 c.740G>A c.(739-741)cGa>cAa p.R247Q GNAQ_ENST00000397476.3_Missense_Mutation_p.R45Q NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 247 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 TTCCTCCATTCGGTTCTGGAA 0.333000 Mis uveal melanoma 53 85 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31541415 31541415 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:31541415T>C ENST00000454783.1 + 4 821 c.563T>C c.(562-564)aTc>aCc p.I188T LTA_ENST00000418386.2_Missense_Mutation_p.I188T NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 188 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) ACAGATGGCATCCCCCACCTA 0.522000 21 357 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128750639 128750639 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:128750639C>T ENST00000377970.2 + 2 686 c.176C>T c.(175-177)gCg>gTg p.A59V MYC_ENST00000259523.6_Missense_Mutation_p.A44V|MYC_ENST00000524013.1_Missense_Mutation_p.A58V NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 44 P -> A (in a Burkitt lymphoma sample). branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) CAGCCCCCGGCGCCCAGCGAG 0.637000 A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 88 35 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117484351 117484351 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:117484351C>T ENST00000393203.2 + 2 211 c.64C>T c.(64-66)Cgt>Tgt p.R22C NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 22 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TTGCCGAGGGCGTGTGGTGAG 0.537000 48 57 0 0 1 0 0 SRSF5 6430 broad.mit.edu 37 14 70235387 70235387 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:70235387G>A ENST00000553521.1 + 4 1646 c.193G>A c.(193-195)Gaa>Aaa p.E65K SRSF5_ENST00000555349.1_Missense_Mutation_p.E65K|SRSF5_ENST00000554021.1_Missense_Mutation_p.E65K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553548.1_Missense_Mutation_p.E65K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E65K|SRSF5_ENST00000394366.2_Missense_Mutation_p.E65K|SRSF5_ENST00000553635.1_Missense_Mutation_p.E62K|SRSF5_ENST00000451983.2_Missense_Mutation_p.E65K Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 65 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 ACTCTGTAGTGAAAGGTGAGA 0.398000 62 82 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39575909 39575909 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:39575909C>A ENST00000262039.4 + 8 928 c.842C>A c.(841-843)cCt>cAt p.P281H PIK3C3_ENST00000398870.3_Missense_Mutation_p.P218H NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 281 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 AGAAGTGGACCTTCTGACCAC 0.348000 TSP Lung(28;0.18) 37 49 4.67007e-22 5.17127e-22 1 1 0 ITGA9 3680 broad.mit.edu 37 3 37544757 37544757 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:37544757T>C ENST00000264741.5 + 6 957 c.701T>C c.(700-702)cTg>cCg p.L234P ITGA9_ENST00000422441.1_Missense_Mutation_p.L234P NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 234 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TATTTAAAACTGAACGACGAA 0.483000 35 49 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84670463 84670463 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:84670463G>A ENST00000393868.2 - 3 473 c.263C>T c.(262-264)cCa>cTa p.P88L NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 88 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) TCCTTTCCCTGGAGTGGTTCC 0.488000 5 96 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5290969 5290969 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:5290969C>T ENST00000357006.4 - 4 1576 c.1238G>A c.(1237-1239)aGt>aAt p.S413N ZBTB14_ENST00000400143.3_Missense_Mutation_p.S413N NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 CTTCCTTTCACTGTGCATATT 0.532000 42 69 0 0 1 0 0 FSCN1 6624 broad.mit.edu 37 7 5645075 5645075 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:5645075C>T ENST00000382361.3 + 5 1566 c.1452C>T c.(1450-1452)acC>acT p.T484T FSCN1_ENST00000340250.6_Silent_p.T463T NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 484 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CGGCGGAAACCGTGGACCCCG 0.662000 5 3 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945055 144945055 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:144945055G>A ENST00000525985.1 - 2 2438 c.2367C>T c.(2365-2367)ccC>ccT p.P789P P58107 EPIPL_HUMAN epiplakin 1 789 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCCCGTCTCGGGGTCACGCA 0.627000 48 142 0 0 1 0 0 ISLR2 57611 broad.mit.edu 37 15 74425609 74425609 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:74425609G>A ENST00000361742.3 + 4 1283 c.514G>A c.(514-516)Gcg>Acg p.A172T ISLR2_ENST00000435464.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172T NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 172 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CGCGCTTAGCGCGCTGTCACA 0.667000 70 95 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47707956 47707956 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:47707956G>A ENST00000406134.1 + 15 2642 c.2580G>A c.(2578-2580)tcG>tcA p.S860S MSH2_ENST00000543555.1_Silent_p.S794S|MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000233146.2_Silent_p.S860S P43246 MSH2_HUMAN mutS homolog 2 860 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTGGAGAATCGCAAGGATATG 0.383000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 56 64 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137687154 137687154 + Missense_Mutation SNP G G C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:137687154G>C ENST00000371817.3 + 34 3206 c.2792G>C c.(2791-2793)gGc>gCc p.G931A NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 931 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGAAGCCTGGCCCCAAGGTA 0.602000 43 78 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368690 72368690 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:72368690C>T ENST00000335666.4 + 4 1388 c.1340C>T c.(1339-1341)gCg>gTg p.A447V NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 447 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.A447E(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 GGCATGGCGGCGAAGCCTGTG 0.617000 14 28 0 0 1 0 0 TRAV22 0 broad.mit.edu 37 14 22539003 22539003 + RNA SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:22539003C>T ENST00000390450.3 + 0 184 CCCAGGTTTGCTGTGAGTTGG 0.488000 4 8 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2828698 2828698 + Splice_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:2828698A>G ENST00000381154.1 - 7 1211 c.e7+1 NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCACAACTCACCTTTGTAAA 0.453000 18 236 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69466022 69466022 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:69466022C>T ENST00000227507.2 + 5 1087 c.860C>T c.(859-861)cCc>cTc p.P287L NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 287 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding p.P287L(1)|p.P287H(1) NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) GCTTGCACACCCACCGACGTG 0.716000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 10 13 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139418329 139418329 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:139418329G>A ENST00000277541.6 - 3 318 c.243C>T c.(241-243)ggC>ggT p.G81G NOTCH1_ENST00000491649.1_5'UTR NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 81 EGF-like 2. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGTCTGCCACGCCTCTGCGGT 0.697000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 11 0 0 1 0 0 CLDN5 7122 broad.mit.edu 37 22 19511475 19511475 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:19511475C>T ENST00000406028.1 - 2 1619 c.559G>A c.(559-561)Gcg>Acg p.A187T CLDN5_ENST00000403084.1_Missense_Mutation_p.A187T|CLDN5_ENST00000413119.2_Missense_Mutation_p.A187T O00501 CLD5_HUMAN claudin 5 102 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity liver(1)|lung(2)|prostate(1) 4 Colorectal(54;0.0993) GTGCACTGCGCGCCCGCCAGG 0.736000 8 8 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153870684 153870684 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:153870684T>C ENST00000356448.4 + 6 1734 c.1450T>C c.(1450-1452)Ttc>Ctc p.F484L ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F484L|ARHGEF26_ENST00000465817.1_Intron NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 484 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 GCACCATCTTTTCTCCAATAT 0.378000 3 13 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75543858 75543858 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:75543858C>T ENST00000297785.3 - 4 446 c.392G>A c.(391-393)cGc>cAc p.R131H ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R131H NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 131 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TGCACAGTAGCGCAATGTTTT 0.428000 48 90 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144649983 144649983 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:144649983G>A ENST00000398882.3 - 12 2096 c.1840C>T c.(1840-1842)Ctg>Ttg p.L614L MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'UTR NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 GCCCGGCGCAGGGGGTCCTGT 0.701000 14 45 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167754717 167754717 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:167754717A>G ENST00000470487.1 - 8 1439 c.750T>C c.(748-750)ccT>ccC p.P250P GOLIM4_ENST00000309027.4_Silent_p.P222P NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 250 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTGCTGGATCAGGTTTTCGAA 0.453000 53 93 0 0 1 0 0 PSMB1 5689 broad.mit.edu 37 6 170844432 170844432 + Missense_Mutation SNP C C T rs150833808 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:170844432C>T ENST00000262193.6 - 6 700 c.602G>A c.(601-603)cGg>cAg p.R201Q PSMB1_ENST00000462957.1_5'UTR NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 201 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 cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) TTTCACCAGCCGCATGGCTCT 0.512000 67 49 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48686273 48686273 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:48686273G>A ENST00000544264.1 - 19 6951 c.6671C>T c.(6670-6672)aCt>aTt p.T2224I CELSR3_ENST00000164024.4_Missense_Mutation_p.T2219I Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2219 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) ATAGTGGTCAGTGTGGCCAGT 0.597000 39 43 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62571740 62571740 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:62571740G>A ENST00000369908.5 - 13 1655 c.1356C>T c.(1354-1356)cgC>cgT p.R452R UCKL1_ENST00000369892.3_Silent_p.R467R|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.R467R NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 467 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCAGGAGCACGCGCACTGCCA 0.632000 18 42 0 0 1 0 0 SPIN1 10927 broad.mit.edu 37 9 91083304 91083304 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:91083304G>A ENST00000375859.3 + 5 651 c.373G>A c.(373-375)Gat>Aat p.D125N SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.D125N NM_006717.2 NP_006708.2 Q9Y657 SPIN1_HUMAN spindlin 1 125 cell cycle|gamete generation|multicellular organismal development nucleus methylated histone residue binding endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 TCGAATCAGCGATGCACACTT 0.413000 23 31 0 0 1 0 0 BCL2L1 598 broad.mit.edu 37 20 30253853 30253853 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:30253853C>T ENST00000307677.4 - 3 1011 c.601G>A c.(601-603)Gcc>Acc p.A201T BCL2L1_ENST00000420653.1_Missense_Mutation_p.A201T|BCL2L1_ENST00000376055.4_Missense_Mutation_p.A138T|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A201T NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 201 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CGGCTCTCGGCTGCTGCATTG 0.557000 38 110 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110587865 110587865 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:110587865G>A ENST00000399066.3 - 6 1980 c.1253C>T c.(1252-1254)aCg>aTg p.T418M SYBU_ENST00000446070.2_Missense_Mutation_p.T420M|SYBU_ENST00000433638.1_Missense_Mutation_p.T421M|SYBU_ENST00000529175.1_Missense_Mutation_p.T215M|SYBU_ENST00000408908.2_Missense_Mutation_p.T421M|SYBU_ENST00000440310.1_Missense_Mutation_p.T421M|SYBU_ENST00000408889.3_Missense_Mutation_p.T302M|SYBU_ENST00000422135.1_Missense_Mutation_p.T421M|SYBU_ENST00000533895.1_Missense_Mutation_p.T420M|SYBU_ENST00000528647.1_Missense_Mutation_p.T420M|SYBU_ENST00000419099.1_Missense_Mutation_p.T420M|SYBU_ENST00000533171.1_Missense_Mutation_p.T421M|SYBU_ENST00000276646.9_Missense_Mutation_p.T421M|SYBU_ENST00000528331.1_Missense_Mutation_p.T302M|SYBU_ENST00000424158.2_Missense_Mutation_p.T426M|SYBU_ENST00000532779.1_Missense_Mutation_p.T353M|SYBU_ENST00000529690.1_Missense_Mutation_p.T291M|SYBU_ENST00000533065.1_Missense_Mutation_p.T302M NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 421 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CCCTTCCCCCGTGACCTGCTC 0.522000 22 113 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025953 203025953 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:203025953G>A ENST00000367240.2 + 18 2746 c.2219G>A c.(2218-2220)aGc>aAc p.S740N PPFIA4_ENST00000599966.1_Missense_Mutation_p.S255N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S468N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S255N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S739N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S255N O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 255 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AGCAGCAACAGCAGCCAGGAC 0.582000 12 14 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84502845 84502845 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:84502845C>T ENST00000395226.2 + 4 557 c.339C>T c.(337-339)acC>acT p.T113T AGPAT9_ENST00000264409.4_Silent_p.T113T NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 113 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) ATGAAGTGACCCAGAGGTTTT 0.468000 59 102 0 0 1 0 0 IL17REL 400935 broad.mit.edu 37 22 50436618 50436618 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:50436618G>A ENST00000389983.2 - 10 986 c.722C>T c.(721-723)cCg>cTg p.P241L IL17REL_ENST00000341280.5_Missense_Mutation_p.P241L NM_001001694.2 NP_001001694.2 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 241 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) gccggcccccggccccgggcg 0.682000 47 51 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17228506 17228506 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:17228506G>A ENST00000261381.6 - 9 1935 c.1851C>T c.(1849-1851)taC>taT p.Y617Y CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 617 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGTAGTTCCCGTACAGGTAAT 0.572000 84 108 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890694 55890694 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:55890694T>C ENST00000313472.3 + 1 846 c.846T>C c.(844-846)atT>atC p.I282I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CTATTGTGATTCCCATGCTGA 0.368000 46 69 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30085829 30085829 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:30085829A>G ENST00000449726.1 + 3 511 c.161A>G c.(160-162)cAt>cGt p.H54R PLEKHA8_ENST00000396257.2_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.H54R|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.H54R|PLEKHA8_ENST00000483799.1_3'UTR NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 54 PH. protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CTCCCAGTTCATTCTGTAGAT 0.512000 49 80 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7623913 7623913 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:7623913G>A ENST00000221249.6 + 31 3892 c.3461G>A c.(3460-3462)cGc>cAc p.R1154H PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192H|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154H NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1193 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 ATCCAGTCCCGCCTGGCCTAC 0.607000 31 40 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226453981 226453981 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:226453981C>A ENST00000328205.5 - 9 1462 c.917G>T c.(916-918)cGg>cTg p.R306L LIN9_ENST00000481685.1_Missense_Mutation_p.R271L|LIN9_ENST00000366801.1_Missense_Mutation_p.R255L NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 290 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TCGAGAAGGCCGCTGTTTTTG 0.338000 15 11 0.000308642 0.000313286 1 1 0 NFAT5 10725 broad.mit.edu 37 16 69726657 69726657 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:69726657C>T ENST00000349945.1 + 14 4199 c.2647C>T c.(2647-2649)Cct>Tct p.P883S NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000354436.2_Missense_Mutation_p.P959S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 959 Poly-Gln. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTCTTCTCCTCCTGCAGTTTC 0.448000 38 54 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670971 131670971 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:131670971C>T ENST00000259324.5 + 3 2051 c.1528C>T c.(1528-1530)Ctg>Ttg p.L510L LRRC8A_ENST00000372600.4_Silent_p.L510L|LRRC8A_ENST00000372599.3_Silent_p.L510L NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 510 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GGAGATCCCGCTGTGGATCTA 0.612000 24 28 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67261432 67261432 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:67261432G>A ENST00000356404.3 - 20 3194 c.2969C>T c.(2968-2970)gCg>gTg p.A990V PITPNM1_ENST00000534749.1_Missense_Mutation_p.A990V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A989V|PITPNM1_ENST00000526450.1_5'UTR NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 990 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AATGCCCAGCGCGCGTTCTGG 0.682000 28 21 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8114820 8114820 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:8114820C>T ENST00000332175.8 + 13 3199 c.2162C>T c.(2161-2163)aCa>aTa p.T721I PTPRM_ENST00000400053.4_Missense_Mutation_p.T659I|PTPRM_ENST00000444013.1_Missense_Mutation_p.T508I|PTPRM_ENST00000400060.4_Missense_Mutation_p.T721I|PTPRM_ENST00000580170.1_Missense_Mutation_p.T721I NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 721 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CAAGTGGCCACAAAAGGTAGG 0.299000 19 15 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44098476 44098476 + Splice_Site SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:44098476G>T ENST00000468694.1 + 9 783 c.e9-1 DBNL_ENST00000497184.1_Intron|DBNL_ENST00000452943.1_Intron|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000448521.1_Intron|DBNL_ENST00000494774.1_Intron NM_001122956.1 NP_001116428.1 Q9UJU6 DBNL_HUMAN drebrin-like activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 GCCCACTGCAGGGGTCAACAT 0.602000 22 20 8.10497e-08 8.47206e-08 1 1 0 LPAL2 0 broad.mit.edu 37 6 160905191 160905191 + RNA SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:160905191T>C ENST00000335388.5 - 0 936 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CAGGTTGCAGTACTCCCATCT 0.502000 79 49 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51217078 51217078 + Missense_Mutation SNP C C T rs138468869 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:51217078C>T ENST00000293441.1 - 5 787 c.769G>A c.(769-771)Gcc>Acc p.A257T SHANK1_ENST00000391814.1_Missense_Mutation_p.A257T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A257T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 257 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CAGTGTCGGGCGCATGCGGCC 0.627000 42 56 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192053197 192053197 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:192053197C>T ENST00000454309.2 - 3 1192 c.367G>A c.(367-369)Gct>Act p.A123T FGF12_ENST00000264730.3_Missense_Mutation_p.A61T|FGF12_ENST00000445105.1_Missense_Mutation_p.A61T|FGF12_ENST00000450716.1_Missense_Mutation_p.A61T|FGF12_ENST00000430714.1_Missense_Mutation_p.A24T NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 123 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TAGAGGCTAGCCTTCACTCCT 0.478000 15 36 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378026 18378026 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:18378026C>T ENST00000392413.3 - 3 539 c.324G>A c.(322-324)acG>acA p.T108T KIAA1683_ENST00000600328.2_Silent_p.T108T|KIAA1683_ENST00000600359.2_Silent_p.T62T NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 108 IQ 1. mitochondrion p.T108T(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTTGGATGAGCGTGGCTGCAC 0.637000 56 70 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50085296 50085296 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:50085296A>G ENST00000376042.1 + 9 3910 c.3612A>G c.(3610-3612)caA>caG p.Q1204Q CCNB3_ENST00000348603.2_Silent_p.Q100Q|CCNB3_ENST00000376038.1_Silent_p.Q100Q|CCNB3_ENST00000276014.7_Silent_p.Q1204Q Q8WWL7 CCNB3_HUMAN cyclin B3 1204 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) ATAAGTTACAACTCCTTGGTG 0.468000 43 62 0 0 1 0 0 MYD88 4615 broad.mit.edu 37 3 38182689 38182689 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:38182689T>C ENST00000417037.2 + 5 1050 c.866T>C c.(865-867)cTg>cCg p.L289P MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.L236P|MYD88_ENST00000396334.3_Missense_Mutation_p.L281P|MYD88_ENST00000495303.1_3'UTR NM_001172567.1 NP_001166038.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 268 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCAGCATCCTGAGGTTCATC 0.552000 Mis ABC-DLBCL 61 80 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18301454 18301454 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:18301454C>T ENST00000396253.3 - 22 3485 c.3023G>A c.(3022-3024)cGg>cAg p.R1008Q HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.R1008Q|HPS5_ENST00000349215.3_Missense_Mutation_p.R1122Q NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 1122 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CCAGAGAAACCGATCGCATTT 0.403000 Hermansky-Pudlak syndrome 20 34 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900216 151900216 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:151900216G>A ENST00000393900.3 - 3 938 c.585C>T c.(583-585)atC>atT p.I195I MAGEA12_ENST00000393869.3_Silent_p.I195I|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 195 MAGE. p.I195I(1) breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGGCACGATCTGATTGT 0.577000 99 136 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 476346 476346 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:476346G>A ENST00000264938.3 - 13 2047 c.2038C>T c.(2038-2040)Ctg>Ttg p.L680L CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L671L|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 680 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGCTTGTACAGCTTGGCCGCC 0.647000 18 46 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767907 57767907 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:57767907G>A ENST00000371030.2 + 1 1833 c.1833G>A c.(1831-1833)agG>agA p.R611R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 611 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCCAGAGAAGGCTGAAGATGT 0.597000 46 141 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167882440 167882440 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:167882440C>T ENST00000265293.4 + 19 3240 c.2738C>T c.(2737-2739)cCg>cTg p.P913L WWC1_ENST00000521089.1_Missense_Mutation_p.P913L|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 913 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GTGGGCACCCCGTCCCAGGGG 0.622000 129 105 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12825886 12825886 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:12825886A>G ENST00000425528.1 - 9 1103 c.746T>C c.(745-747)aTc>aCc p.I249T TNPO2_ENST00000592287.1_Missense_Mutation_p.I249T|TNPO2_ENST00000441499.1_Missense_Mutation_p.I249T|TNPO2_ENST00000588216.1_Missense_Mutation_p.I249T|TNPO2_ENST00000356861.5_Missense_Mutation_p.I249T|TNPO2_ENST00000450764.2_Missense_Mutation_p.I249T|TNPO2_ENST00000589956.1_Intron O14787 TNPO2_HUMAN transportin 2 249 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATGTGGGGGATGAGCCTGTC 0.642000 37 43 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122165305 122165305 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:122165305T>C ENST00000379516.2 + 15 1630 c.1522T>C c.(1522-1524)Tgg>Cgg p.W508R SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.W391R NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 508 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) GATAAAATACTGGGAAGCATT 0.343000 21 50 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 31 0.00024832 0.000252935 1 1 0 ARMCX2 9823 broad.mit.edu 37 X 100911796 100911796 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:100911796G>A ENST00000328766.5 - 5 1232 c.779C>T c.(778-780)aCc>aTc p.T260I ARMCX2_ENST00000330154.2_Missense_Mutation_p.T260I|ARMCX2_ENST00000356824.4_Missense_Mutation_p.T260I NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 260 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 AGCCCCAGGGGTTGCTTTCTT 0.602000 47 102 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547798 63547798 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:63547798G>A ENST00000397968.2 + 12 2452 c.2026G>A c.(2026-2028)Gtc>Atc p.V676I CDH7_ENST00000323011.3_Missense_Mutation_p.V676I NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 676 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AAACCTCAACGTCATCCGAGA 0.483000 36 46 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102506038 102506038 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:102506038C>T ENST00000360184.4 + 62 11823 c.11659C>T c.(11659-11661)Ctg>Ttg p.L3887L RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3887 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TGCCATGCTGCTGGCAAGAAT 0.537000 62 67 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8720914 8720914 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:8720914G>A ENST00000534127.1 - 18 3129 c.2744C>T c.(2743-2745)gCg>gTg p.A915V ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 915 DENN. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGCCACCACCGCGTGGGAGCA 0.617000 30 23 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72297544 72297544 + RNA SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:72297544C>A ENST00000438125.1 - 0 123 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAGGAGAGGTCCCATGTATCC 0.343000 16 36 4.7546e-09 5.0178e-09 1 1 0 SLC41A2 84102 broad.mit.edu 37 12 105282851 105282851 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:105282851A>G ENST00000258538.3 - 4 967 c.840T>C c.(838-840)tcT>tcC p.S280S NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 280 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 CCACACTGCTAGAGCACAGAA 0.388000 45 56 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483140 32483140 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:32483140G>A ENST00000359872.6 - 1 1173 c.412C>T c.(412-414)Cgg>Tgg p.R138W NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 138 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding p.R138W(1) Amiloride(DB00594) GCCTTCTGCCGCAGGGCCTCC 0.592000 50 73 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128843210 128843210 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:128843210G>A ENST00000310343.9 - 21 3148 c.3149C>T c.(3148-3150)tCc>tTc p.S1050F ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S701F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S701F NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1050 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 TTGCTGTGCGGACTCAGCTAA 0.512000 79 114 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546772 34546772 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:34546772C>A ENST00000354181.3 - 9 1387 c.895G>T c.(895-897)Gct>Tct p.A299S SLC12A6_ENST00000451844.2_Missense_Mutation_p.A111S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A111S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A290S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A248S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A284S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A299S Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 299 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AAGATGGCAGCTCGGGGGACG 0.388000 31 52 1.06801e-11 1.13671e-11 1 1 0 HBP1 26959 broad.mit.edu 37 7 106826902 106826902 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:106826902C>T ENST00000222574.4 + 5 823 c.637C>T c.(637-639)Cac>Tac p.H213Y HBP1_ENST00000468410.1_Missense_Mutation_p.H213Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H213Y NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 213 AXH. cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 AACTGTCTGGCACTGTTTTTT 0.398000 53 84 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659512 50659512 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:50659512T>C ENST00000252677.3 + 2 1084 c.1084T>C c.(1084-1086)Tat>Cat p.Y362H NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 362 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CCCGTATAAGTATGTTCCAAT 0.463000 45 60 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889906 23889906 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:23889906T>C ENST00000532292.1 - 1 1269 c.1175A>G c.(1174-1176)gAg>gGg p.E392G NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACTTGCGACCTCAGACACAAC 0.622000 24 20 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439515 52439515 + Translation_Start_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:52439515A>G ENST00000242819.4 + 2 297 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 1 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GTCATCCCTCATGGCCACCCC 0.597000 31 21 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47728788 47728788 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:47728788G>A ENST00000371877.3 - 15 2763 c.2615_splice c.e15-1 p.N872_splice STIL_ENST00000396221.2_Intron|STIL_ENST00000360380.3_Intron|STIL_ENST00000337817.5_Intron|STIL_ENST00000243182.6_Intron Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 872 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GAGAAGAGCTGCTGGGAAGGA 0.398000 11 18 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69554051 69554051 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:69554051A>G ENST00000357308.4 - 19 2228 c.2050T>C c.(2050-2052)Tat>Cat p.Y684H GFPT1_ENST00000361060.4_Missense_Mutation_p.Y666H NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 684 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 CTTACATCATAGCCTCTCAGC 0.433000 25 22 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33231322 33231322 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:33231322C>T ENST00000445902.2 - 17 1951 c.1733G>A c.(1732-1734)cGg>cAg p.R578Q VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R453Q|VPS52_ENST00000478934.1_5'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 578 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 ATCTGCAGCCCGCTCCTAAGG 0.512000 26 35 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6703716 6703716 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:6703716C>T ENST00000309577.6 - 15 2385 c.2222G>A c.(2221-2223)tGg>tAg p.W741* CHD4_ENST00000357008.2_Nonsense_Mutation_p.W741*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W738*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W734* Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 741 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCCCTGAGCCCAGGAGAAGCG 0.522000 43 56 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141170 21141170 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:21141170C>T ENST00000380229.2 - 1 974 c.400G>A c.(400-402)Ggg>Agg p.G134R NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 134 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTAATTGCCCCAGCAGATTCT 0.527000 33 44 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136508685 136508685 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:136508685C>A ENST00000393056.2 + 4 907 c.895C>A c.(895-897)Ctg>Atg p.L299M NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 299 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCGCCACGTGCTGGCCGCCTG 0.682000 33 56 6.86731e-36 7.72132e-36 1 1 0 TTYH3 80727 broad.mit.edu 37 7 2687615 2687615 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:2687615C>T ENST00000258796.7 + 5 854 c.649C>T c.(649-651)Ctg>Ttg p.L217L TTYH3_ENST00000403167.1_Silent_p.L46L|TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 217 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CCTGGGCCTGCTGCTGCTGGA 0.706000 7 91 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1360206 1360206 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:1360206G>A ENST00000389851.4 + 8 1722 c.1275G>A c.(1273-1275)ttG>ttA p.L425L UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.L425L|UVSSA_ENST00000507531.1_Silent_p.L425L NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 425 CCGACCACTTGCGGCCTGAGT 0.637000 68 99 0 0 1 0 0 MSTO1 55154 broad.mit.edu 37 1 155717654 155717654 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:155717654T>C ENST00000452804.2 + 7 922 c.861T>C c.(859-861)acT>acC p.T287T Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 260 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) GAATAATAACTTGGGGCCTGC 0.532000 18 57 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45260667 45260667 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:45260667G>A ENST00000164227.5 + 5 1052 c.808G>A c.(808-810)Gca>Aca p.A270T NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 270 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CGACATCGACGCAGTGGTGAG 0.692000 T IGH@ CLL 3 8 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42275398 42275398 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:42275398C>T ENST00000342228.3 - 11 2251 c.1882G>A c.(1882-1884)Gtg>Atg p.V628M SLC20A2_ENST00000520179.1_Missense_Mutation_p.V628M|SLC20A2_ENST00000520262.1_Missense_Mutation_p.V628M NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 628 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGGACGGTCACGAACCAGGCC 0.592000 79 64 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22034617 22034617 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:22034617G>A ENST00000306385.5 + 5 1365 c.695G>A c.(694-696)cGc>cAc p.R232H BMP1_ENST00000397816.3_Missense_Mutation_p.R232H|BMP1_ENST00000397814.3_Missense_Mutation_p.R232H|BMP1_ENST00000306349.8_Missense_Mutation_p.R232H|BMP1_ENST00000354870.5_Missense_Mutation_p.R232H NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 232 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GACCGGGACCGCCACGTTTCC 0.647000 7 28 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103108398 103108398 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:103108398G>T ENST00000374902.4 - 4 1269 c.1093C>A c.(1093-1095)Ctt>Att p.L365I TEX10_ENST00000535814.1_Missense_Mutation_p.L368I|TEX10_ENST00000537512.1_Missense_Mutation_p.L300I NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 365 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TTCCACAGAAGGGAAATAATA 0.373000 9 39 1.76689e-08 1.85133e-08 1 1 0 KREMEN2 79412 broad.mit.edu 37 16 3016379 3016379 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:3016379G>A ENST00000572045.1 + 4 720 c.415G>A c.(415-417)Ggc>Agc p.G139S KREMEN2_ENST00000575769.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000575885.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000319500.6_Missense_Mutation_p.G139S|KREMEN2_ENST00000571007.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.G139S NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 139 WSC. Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 AGCCCTCAGCGGCCCCAGCGG 0.642000 60 96 0 0 1 0 0 MAPRE2 10982 broad.mit.edu 37 18 32720278 32720278 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:32720278C>T ENST00000436190.2 + 8 1167 c.893C>T c.(892-894)cCg>cTg p.P298L MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267L NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 310 APC-binding.|DCTN1-binding.|EB1 C-terminal. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 ACAGAAGAGCCGGAAGCAGAG 0.597000 9 16 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133923762 133923762 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:133923762T>C ENST00000220616.4 + 19 4183 c.4143T>C c.(4141-4143)ccT>ccC p.P1381P TG_ENST00000377869.1_Silent_p.P1381P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1381 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTTCTCTTCCTGACTTACATG 0.473000 57 148 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234750399 234750399 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:234750399C>T ENST00000411486.2 - 8 1092 c.1027G>A c.(1027-1029)Gta>Ata p.V343I HJURP_ENST00000441687.1_Missense_Mutation_p.V258I|HJURP_ENST00000432087.1_Missense_Mutation_p.V289I NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 343 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACATCTAATACGTTCTTGCAA 0.438000 20 23 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11725897 11725897 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:11725897A>C ENST00000262442.3 + 47 9061 c.8993A>C c.(8992-8994)cAg>cCg p.Q2998P DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2998P NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2998 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCTTCTTGCAGAACACAGAG 0.522000 68 92 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839359 62839359 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:62839359G>A ENST00000536311.1 + 7 1174 c.810G>A c.(808-810)gaG>gaA p.E270E MYT1_ENST00000328439.1_Silent_p.E270E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 270 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaagaggaggaggaggagg 0.577000 15 21 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17727969 17727969 + RNA SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:17727969G>A ENST00000434762.2 + 0 2171 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CTGCCCCAGCGTGGATGGCCC 0.587000 3 21 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831988 24831988 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:24831988G>A ENST00000376451.2 + 14 3098 c.2838G>A c.(2836-2838)gtG>gtA p.V946V KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Silent_p.V1263V Q5T5P2 SKT_HUMAN KIAA1217 1263 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGGAAACTGTGCCTAAGGCCA 0.383000 36 29 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41099853 41099853 + Silent SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:41099853C>G ENST00000355341.4 + 1 567 c.66C>G c.(64-66)tcC>tcG p.S22S ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.S22S|ZFYVE19_ENST00000336455.5_Intron NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 22 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGAGAGCGTCCGGATTCCCTG 0.692000 11 16 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112998226 112998226 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:112998226A>C ENST00000495514.1 + 12 2648 c.1944A>C c.(1942-1944)aaA>aaC p.K648N BOC_ENST00000273395.4_Missense_Mutation_p.K649N|BOC_ENST00000355385.3_Missense_Mutation_p.K648N Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 648 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AGCTAAAGAAAGTGGGAGACT 0.612000 33 54 0 0 1 0 0 DHRS12 79758 broad.mit.edu 37 13 52365373 52365373 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:52365373C>A ENST00000218981.1 - 3 258 c.147G>T c.(145-147)gtG>gtT p.V49V DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Silent_p.V49V|DHRS12_ENST00000444610.2_Silent_p.V98V NM_024705.2 NP_078981.1 A0PJE2 DHR12_HUMAN dehydrogenase/reductase (SDR family) member 12 98 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) CAGACAAGTCCACAATGTGCA 0.299000 8 22 0.0477658 0.0479846 1 1 0 POMT1 10585 broad.mit.edu 37 9 134382768 134382768 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:134382768C>T ENST00000423007.1 + 5 736 c.294C>T c.(292-294)aaC>aaT p.N98N POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Silent_p.N98N|POMT1_ENST00000372228.3_Silent_p.N98N|POMT1_ENST00000354713.4_Silent_p.N68N|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000341012.7_Silent_p.N44N|POMT1_ENST00000541219.1_Intron NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 98 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) ACAGTAGCAACGTGCCTGTGT 0.557000 54 80 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83788042 83788042 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:83788042C>T ENST00000432794.1 - 10 1279 c.1116G>A c.(1114-1116)caG>caA p.Q372Q SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Silent_p.Q372Q|SEC31A_ENST00000311785.7_Silent_p.Q372Q|SEC31A_ENST00000513858.1_Silent_p.Q372Q|SEC31A_ENST00000505472.1_Silent_p.Q372Q|SEC31A_ENST00000509142.1_Silent_p.Q372Q|SEC31A_ENST00000508502.1_Silent_p.Q372Q|SEC31A_ENST00000505984.1_Silent_p.Q372Q|SEC31A_ENST00000264405.5_Silent_p.Q144Q|SEC31A_ENST00000448323.1_Silent_p.Q372Q|SEC31A_ENST00000443462.2_Silent_p.Q367Q|SEC31A_ENST00000395310.2_Silent_p.Q372Q|SEC31A_ENST00000355196.2_Silent_p.Q372Q|SEC31A_ENST00000348405.4_Silent_p.Q372Q|SEC31A_ENST00000500777.2_Silent_p.Q372Q|SEC31A_ENST00000326950.5_Silent_p.Q372Q O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 372 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAGCAGTCTGCTGTGGAATTT 0.433000 70 95 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35500223 35500223 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:35500223G>A ENST00000599564.1 + 3 541 c.470G>A c.(469-471)cGc>cAc p.R157H GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R70H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R70H Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 70 GRAM. integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AACTTCATCCGCAACAGCAAG 0.622000 36 56 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102372596 102372596 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:102372596T>C ENST00000369138.1 + 12 2357 c.e12+2 GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000421544.1_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGCAGCAAGGTATACGATTCA 0.498000 16 45 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75498963 75498963 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:75498963C>T ENST00000360639.2 + 2 894 c.574C>T c.(574-576)Cgg>Tgg p.R192W C15orf39_ENST00000567617.1_Missense_Mutation_p.R192W|C15orf39_ENST00000394987.4_Missense_Mutation_p.R192W Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 192 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CACCTTCTTGCGGGGGGTGCC 0.627000 48 62 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1046869 1046869 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:1046869T>C ENST00000263094.6 + 14 1922 c.1691T>C c.(1690-1692)cTg>cCg p.L564P ABCA7_ENST00000435683.2_Missense_Mutation_p.L426P|ABCA7_ENST00000433129.1_Missense_Mutation_p.L564P|ABCA7_ENST00000533574.1_Intron NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 564 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGTGACACTGACAGTGAAG 0.687000 4 2 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112824031 112824031 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:112824031G>A ENST00000408903.3 - 1 496 c.81C>T c.(79-81)agC>agT p.S27S NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 555 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TGTcgctgctgctgctgctgc 0.741000 24 10 0 0 1 0 0 CD36 948 broad.mit.edu 37 7 80276069 80276069 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:80276069C>T ENST00000435819.1 + 6 697 c.13C>T c.(13-15)Cgg>Tgg p.R5W CD36_ENST00000441109.2_3'UTR|CD36_ENST00000447544.2_Missense_Mutation_p.R5W|CD36_ENST00000544133.1_Missense_Mutation_p.R5W|CD36_ENST00000432207.1_Missense_Mutation_p.R5W|CD36_ENST00000394788.3_Missense_Mutation_p.R5W|CD36_ENST00000534394.1_Intron|CD36_ENST00000309881.7_Missense_Mutation_p.R5W|CD36_ENST00000538969.1_Missense_Mutation_p.R5W|CD36_ENST00000433696.2_Missense_Mutation_p.R5W P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 5 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 GGGCTGTGACCGGAACTGTGG 0.468000 50 53 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198274672 198274672 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:198274672G>A ENST00000335508.5 - 7 817 c.726C>T c.(724-726)agC>agT p.S242S NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 242 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CAGGAGTCTCGCTTCCCTTTG 0.512000 Mis myelodysplastic syndrome 37 54 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203819736 203819736 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:203819736C>T ENST00000545588.1 + 15 5860 c.2033C>T c.(2032-2034)gCt>gTt p.A678V ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A678V|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A678V NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 678 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) ATGCACGCTGCTGTCATTGCC 0.502000 29 40 0 0 1 0 0 MIR7-3HG 0 broad.mit.edu 37 19 4770703 4770703 + RNA SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:4770703A>G ENST00000586721.1 + 0 509 MIR7-3_ENST00000384898.1_RNA GCTGTGGTCTAGTGCTGTGTG 0.532000 83 149 0 0 1 0 0 ZYX 7791 broad.mit.edu 37 7 143087016 143087016 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:143087016T>C ENST00000322764.5 + 9 1905 c.1560T>C c.(1558-1560)acT>acC p.T520T ZYX_ENST00000392910.2_Silent_p.T363T|ZYX_ENST00000449423.2_Silent_p.T433T NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 520 LIM zinc-binding 3. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) GAGATGAGACTGTGCGAGTGG 0.602000 37 42 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20758097 20758097 + Missense_Mutation SNP C C A rs143814736 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:20758097C>A ENST00000380249.1 + 8 765 c.401C>A c.(400-402)cCt>cAt p.P134H FOCAD_ENST00000338382.6_Missense_Mutation_p.P134H NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 134 integral to membrane binding AGAAATCATCCTCATCCTTTG 0.433000 16 22 1.15088e-07 1.20157e-07 1 1 0 AGXT 189 broad.mit.edu 37 2 241808756 241808756 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:241808756C>T ENST00000307503.3 + 2 722 c.335C>T c.(334-336)gCc>gTc p.A112V NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 112 A -> D (in HP1). glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGGCAGCGAGCCGTGGACATC 0.647000 41 41 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39963560 39963560 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:39963560C>T ENST00000599117.1 + 23 2513 c.2146C>T c.(2146-2148)Ccc>Tcc p.P716S SUPT5H_ENST00000402194.2_Missense_Mutation_p.P712S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.P716S|SUPT5H_ENST00000598725.1_Missense_Mutation_p.P716S|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P712S O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 716 KOW 5. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCCCAGGGGCCCTACAAAGG 0.682000 23 41 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7301617 7301617 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:7301617G>A ENST00000537408.1 + 12 2471 c.1933G>A c.(1933-1935)Gtg>Atg p.V645M CLSTN3_ENST00000266546.6_Missense_Mutation_p.V633M Q9BQT9 CSTN3_HUMAN calsyntenin 3 633 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GGAGGGCTACGTGGTCGTCCT 0.587000 19 34 0 0 1 0 0 ZNF704 619279 broad.mit.edu 37 8 81553673 81553673 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:81553673G>A ENST00000327835.3 - 9 1398 c.1167C>T c.(1165-1167)taC>taT p.Y389Y NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 389 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCTCCATCCCGTACACCTTCC 0.572000 12 64 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541791 133541791 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:133541791T>C ENST00000409261.1 - 14 2966 c.2593A>G c.(2593-2595)Att>Gtt p.I865V NCKAP5_ENST00000317721.6_Missense_Mutation_p.I865V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 865 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGTTTTGGAATGTGTGGATCT 0.537000 42 71 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 155041 155041 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:155041C>T ENST00000283426.6 + 6 1026 c.976C>T c.(976-978)Cag>Tag p.Q326* NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 326 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TGACAGCTGCCAGCTGACCGC 0.577000 36 39 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873408 36873408 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:36873408A>G ENST00000429976.2 - 21 7781 c.7534T>C c.(7534-7536)Tcg>Ccg p.S2512P TRANK1_ENST00000301807.6_Missense_Mutation_p.S1962P|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1962P O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2512 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCCTCACCCGAGACCACATAG 0.527000 54 74 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107420159 107420159 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:107420159G>A ENST00000334504.7 - 28 2831 c.2598C>T c.(2596-2598)ggC>ggT p.G866G COL4A6_ENST00000372216.4_Silent_p.G867G|COL4A6_ENST00000545689.1_Silent_p.G866G|COL4A6_ENST00000394872.2_Silent_p.G867G|COL4A6_ENST00000538570.1_Silent_p.G866G NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 867 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TTCCAGGAAGGCCTTTTAGCC 0.532000 Alport syndrome with Diffuse Leiomyomatosis 89 164 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16528892 16528892 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:16528892G>A ENST00000602009.1 - 5 1407 c.512C>T c.(511-513)aCg>aTg p.T171M EPS15L1_ENST00000535753.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.T325M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.T325M Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 325 EF-hand.|EH 2. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 TAACTTCCCCGTTTGCCTCGT 0.537000 OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 43 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103465909 103465909 + Missense_Mutation SNP C C T rs147856179 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:103465909C>T ENST00000361246.2 - 5 877 c.589G>A c.(589-591)Gtg>Atg p.V197M NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 197 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TACCTGTGCACGTAATGAAGC 0.463000 41 78 0 0 1 0 0 ARL14EP 120534 broad.mit.edu 37 11 30354531 30354531 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:30354531G>A ENST00000282032.3 + 3 760 c.545G>A c.(544-546)gGt>gAt p.G182D NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GCAACCGCTGGTTCAGACAGG 0.378000 26 33 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126312029 126312029 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:126312029C>T ENST00000337318.3 - 5 1262 c.1051G>A c.(1051-1053)Gct>Act p.A351T FAM53B_ENST00000392754.3_Missense_Mutation_p.A351T|RP11-12J10.3_ENST00000494792.1_Intron NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 351 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GGGGTCCCAGCGGGGGTCCTG 0.706000 5 17 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151261869 151261869 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:151261869C>T ENST00000368879.2 + 5 2585 c.2487C>T c.(2485-2487)tgC>tgT p.C829C NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 829 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTACAAGTGCGCCATGTGCG 0.612000 64 86 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220037432 220037432 + Missense_Mutation SNP G G C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:220037432G>C ENST00000409789.1 - 9 1536 c.1109C>G c.(1108-1110)aCc>aGc p.T370S CNPPD1_ENST00000360507.5_Missense_Mutation_p.T370S Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 370 Pro-rich. regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CAGGCCATAGGTATGGTACCA 0.617000 31 24 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979571 50979571 + Silent SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:50979571G>T ENST00000600100.1 - 1 439 c.75C>A c.(73-75)ctC>ctA p.L25L FAM71E1_ENST00000595790.1_Silent_p.L25L Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 25 breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) CGTCACACAAGAGCGGGCTCC 0.662000 17 28 3.52763e-06 3.63969e-06 1 1 0 ATP6V0A2 23545 broad.mit.edu 37 12 124228411 124228411 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:124228411A>G ENST00000330342.3 + 10 1366 c.1118A>G c.(1117-1119)aAc>aGc p.N373S NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 373 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ATCCGCACCAACAAATTCACC 0.453000 14 160 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33053232 33053232 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:33053232G>A ENST00000397149.3 - 10 1229 c.1179C>T c.(1177-1179)acC>acT p.T393T SMU1_ENST00000536631.1_Silent_p.T232T NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 393 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CTGTCCCTGCGGTGCTGCCCA 0.398000 38 47 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6031488 6031488 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:6031488G>A ENST00000409021.3 - 20 2849 c.2400C>T c.(2398-2400)gaC>gaT p.D800D JAKMIP1_ENST00000409371.3_Silent_p.D615D NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 571 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACTCCAGTTTGTCCTCCAGTT 0.418000 5 9 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4534907 4534907 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:4534907A>G ENST00000570836.1 - 15 2073 c.1977T>C c.(1975-1977)agT>agC p.S659S ALOX15_ENST00000545513.1_Silent_p.S681S|ALOX15_ENST00000293761.3_Silent_p.S659S|ALOX15_ENST00000574640.1_Silent_p.S620S P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 659 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AGATGGCCACACTGTTTTCCA 0.577000 40 59 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37506904 37506904 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:37506904G>A ENST00000379066.1 - 8 1919 c.1157C>T c.(1156-1158)gCc>gTc p.A386V PRKD3_ENST00000234179.2_Missense_Mutation_p.A386V O94806 KPCD3_HUMAN protein kinase D3 386 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) TGTTTTAACGGCTTCTTCATC 0.408000 21 58 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142148219 142148219 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:142148219T>C ENST00000519811.1 + 3 554 c.484T>C c.(484-486)Tac>Cac p.Y162H DENND3_ENST00000518347.1_Missense_Mutation_p.Y162H|DENND3_ENST00000262585.2_Missense_Mutation_p.Y82H|DENND3_ENST00000424248.1_Missense_Mutation_p.Y82H A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 82 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGTGGCCCAGTACTACCGGCC 0.512000 4 30 0 0 1 0 0 PCDP1 0 broad.mit.edu 37 2 120388230 120388230 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:120388230C>T ENST00000602047.1 + 19 2070 c.958C>T c.(958-960)Cga>Tga p.R320* PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R606* Q4G0U5 PCDP1_HUMAN 606 cilium calmodulin binding Colorectal(110;0.196) AAAGCTTGCCCGAGCCCTAAA 0.448000 27 31 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28314409 28314409 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:28314409C>T ENST00000380254.2 - 5 529 c.381G>A c.(379-381)caG>caA p.Q127Q FBXO16_ENST00000346498.2_Silent_p.Q115Q|FBXO16_ENST00000518734.1_Silent_p.Q115Q|FBXO16_ENST00000517436.1_5'UTR NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 127 F-box. large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) GCATCCAGAGCTGGTCCAGCT 0.423000 89 27 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139189663 139189663 + Splice_Site SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:139189663C>T ENST00000395297.1 - 11 1200 c.1029_splice c.e11-1 p.V344_splice NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 344 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AACCTTCGGACCTGCAGAATA 0.373000 HNSCC(54;0.14) 13 26 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56970921 56970921 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:56970921G>T ENST00000559237.1 - 10 1747 c.1064C>A c.(1063-1065)cCc>cAc p.P355H ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P368H NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) AAATGGTGTGGGAAACTGACG 0.408000 33 48 6.84511e-11 7.26775e-11 1 1 0 CD300A 11314 broad.mit.edu 37 17 72470735 72470735 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:72470735T>C ENST00000360141.3 + 3 732 c.444T>C c.(442-444)ttT>ttC p.F148F CD300A_ENST00000392625.3_Silent_p.F35F|CD300A_ENST00000310828.5_Silent_p.F35F|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.F18F NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 148 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CAACTGCATTTCCACCTGTAT 0.532000 49 69 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102883486 102883486 + RNA SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:102883486C>G ENST00000312132.4 - 0 2623 CCTCCCAGTTCAGTACCACTG 0.313000 3 15 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160526039 160526039 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:160526039G>A ENST00000356956.1 + 48 7547 c.7399G>A c.(7399-7401)Gca>Aca p.A2467T IGF2R_ENST00000475584.1_Intron NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2467 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTCCAGCTCTGCACAGCAGAA 0.597000 17 40 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135392371 135392371 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:135392371T>C ENST00000442011.2 + 12 1726 c.1565T>C c.(1564-1566)aTc>aCc p.I522T TGFBI_ENST00000305126.8_Missense_Mutation_p.I522T NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 522 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTAGCTGCCATCCAGTCTGCA 0.502000 28 63 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74315095 74315095 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:74315095T>C ENST00000395792.2 + 9 1202 c.1102T>C c.(1102-1104)Tca>Cca p.S368P AFP_ENST00000226359.2_Missense_Mutation_p.S368P NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 368 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTTGCTGTCTCAGTAATTCT 0.373000 Alpha-Fetoprotein, Hereditary Persistence of 28 41 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73740968 73740968 + Splice_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:73740968A>G ENST00000276033.5 + 2 962 c.797_splice c.e2+1 p.S266_splice SLC16A2_ENST00000587091.1_Splice_Site_p.S192_splice P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 192 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) CTCCTTCACCAGGTAAGGCTA 0.517000 50 56 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7339922 7339922 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:7339922A>C ENST00000323206.1 + 3 897 c.624A>C c.(622-624)aaA>aaC p.K208N TMEM102_ENST00000396568.1_Missense_Mutation_p.K208N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 208 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) CTTTGGAAAAATCGCCTAGTG 0.552000 59 78 0 0 1 0 0 HAUS3 79441 broad.mit.edu 37 4 2242253 2242253 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:2242253C>T ENST00000243706.4 - 2 650 c.421G>A c.(421-423)Gaa>Aaa p.E141K HAUS3_ENST00000506763.1_Missense_Mutation_p.E141K|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E141K|POLN_ENST00000515357.1_Intron NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 141 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GCTTCTTCTTCTTTAGCATTT 0.353000 26 40 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241033369 241033369 + Missense_Mutation SNP C C T rs149172715 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:241033369C>T ENST00000366565.1 - 7 817 c.436G>A c.(436-438)Gca>Aca p.A146T RGS7_ENST00000401882.1_Missense_Mutation_p.A93T|RGS7_ENST00000366563.1_Missense_Mutation_p.A146T|RGS7_ENST00000446183.2_Missense_Mutation_p.A62T|RGS7_ENST00000366562.4_Missense_Mutation_p.A146T|RGS7_ENST00000366564.1_Missense_Mutation_p.A146T|RGS7_ENST00000348120.2_Missense_Mutation_p.A93T|RGS7_ENST00000331110.7_Missense_Mutation_p.A120T|RGS7_ENST00000407727.1_Missense_Mutation_p.A146T NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 146 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCATAGTCTGCGAGCTCCAGT 0.458000 30 44 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32778914 32778914 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:32778914T>C ENST00000328834.5 + 13 1843 c.1527T>C c.(1525-1527)caT>caC p.H509H CNOT10_ENST00000331889.6_Intron|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Silent_p.H281H|CNOT10_ENST00000454516.2_Silent_p.H569H NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 509 H -> Y (in Ref. 1; BAB14108). nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 GTAAAAGCCATGATGGAGATA 0.323000 10 25 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 214328 214328 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:214328A>G ENST00000526104.1 + 10 2918 c.1574A>G c.(1573-1575)gAc>gGc p.D525G RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000527696.1_Missense_Mutation_p.D519G|RIC8A_ENST00000325207.5_Missense_Mutation_p.D531G Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 525 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CTCTCctcggaccctgactcg 0.597000 4 10 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179146716 179146716 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:179146716C>A ENST00000247461.4 + 9 1159 c.959C>A c.(958-960)cCc>cAc p.P320H CANX_ENST00000504734.1_Missense_Mutation_p.P320H|CANX_ENST00000452673.2_Missense_Mutation_p.P320H|CANX_ENST00000415618.2_Missense_Mutation_p.P355H|CANX_ENST00000512607.2_Missense_Mutation_p.P212H NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 320 4 X approximate repeats.|P domain (Extended arm) (By similarity). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCACAAAACCCGAAGGCTGG 0.423000 18 17 1.00905e-13 1.08051e-13 1 1 0 L3MBTL2 83746 broad.mit.edu 37 22 41612173 41612173 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:41612173C>A ENST00000216237.5 + 4 585 c.427C>A c.(427-429)Ctg>Atg p.L143M RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 143 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGCCAAAGTCCTGCACAAGGC 0.557000 13 25 5.50884e-06 5.67048e-06 1 1 0 BEGAIN 57596 broad.mit.edu 37 14 101004877 101004877 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:101004877G>A ENST00000556751.1 - 5 4423 c.1019C>T c.(1018-1020)cCg>cTg p.P340L BEGAIN_ENST00000443071.2_Missense_Mutation_p.P404L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P404L Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 404 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GGCGGTCCCCGGCTTGGCCCG 0.726000 9 8 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486999 94486999 + Missense_Mutation SNP C C T rs146067291 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:94486999C>T ENST00000375708.3 - 9 1975 c.1777G>A c.(1777-1779)Gtg>Atg p.V593M ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V453M NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 593 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ACAAGGTGCACGAAGTCGGGG 0.632000 20 29 0 0 1 0 0 TMEM177 80775 broad.mit.edu 37 2 120438732 120438732 + Silent SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:120438732G>T ENST00000424086.1 + 2 776 c.303G>T c.(301-303)ggG>ggT p.G101G TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.G101G|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Silent_p.G101G NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 101 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) TCCCTGCTGGGGCTGTGGTGG 0.562000 145 225 6.07058e-49 6.87843e-49 1 1 0 TSPAN31 0 broad.mit.edu 37 12 58139606 58139606 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:58139606G>A ENST00000547992.1 + 2 274 c.142G>A c.(142-144)Gga>Aga p.G48R TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.G48R|TSPAN31_ENST00000547472.1_Intron Q12999 TSN31_HUMAN tetraspanin 31 48 positive regulation of cell proliferation integral to plasma membrane|membrane fraction endometrium(1)|kidney(1)|lung(5) 7 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CATCATCGGCGGAGTCATTGC 0.552000 33 95 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133910007 133910007 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:133910007C>T ENST00000220616.4 + 12 3155 c.3115C>T c.(3115-3117)Cct>Tct p.P1039S TG_ENST00000377869.1_Missense_Mutation_p.P1039S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1039 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AAGTTGGGAGCCTGTGCAGTG 0.597000 36 111 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100709497 100709497 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:100709497G>A ENST00000360820.2 + 9 1694 c.1257G>A c.(1255-1257)caG>caA p.Q419Q NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 419 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TGTTTAAGCAGCAGGAGCCAA 0.338000 17 20 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83806836 83806836 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:83806836T>C ENST00000349129.2 + 3 398 c.e3+2 DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000536812.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTTAATAAGGTATGTCTGTAT 0.308000 117 81 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53586500 53586500 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:53586500A>G ENST00000025008.5 - 7 1430 c.907T>C c.(907-909)Ttt>Ctt p.F303L RB1CC1_ENST00000435644.2_Missense_Mutation_p.F303L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.F303L|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 303 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ACATTAAAAAAGGGCAGATCA 0.388000 121 49 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 10 48 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58640477 58640477 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:58640477A>G ENST00000598312.1 - 4 627 c.394T>C c.(394-396)Tcc>Ccc p.S132P ZNF329_ENST00000358067.4_Missense_Mutation_p.S132P NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ACTTCCATGGAATGGTTGAAG 0.423000 62 55 0 0 1 0 0 PQLC1 80148 broad.mit.edu 37 18 77703350 77703350 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:77703350C>T ENST00000397778.2 - 3 498 c.316G>A c.(316-318)Gcc>Acc p.A106T PQLC1_ENST00000590381.1_Missense_Mutation_p.A106T|PQLC1_ENST00000409073.1_Missense_Mutation_p.A23T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A106T NM_025078.4 NP_079354.2 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 106 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 9 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) CGGCGCCTGGCGTTGAGCTCG 0.582000 116 142 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65351790 65351790 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:65351790C>T ENST00000309295.4 + 10 3437 c.3172C>T c.(3172-3174)Cgc>Tgc p.R1058C NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 1058 CH. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CCGTGGCGTCCGCATCACCAA 0.627000 70 95 0 0 1 0 0 ATG13 9776 broad.mit.edu 37 11 46667538 46667538 + Splice_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:46667538A>G ENST00000434074.1 + 4 958 c.270_splice c.e4+1 p.E90_splice ATG13_ENST00000526508.1_Splice_Site_p.E90_splice|ATG13_ENST00000530500.1_Splice_Site_p.E11_splice|ATG13_ENST00000528494.1_Splice_Site_p.E90_splice|ATG13_ENST00000451945.1_Splice_Site_p.E90_splice|ATG13_ENST00000529655.1_Splice_Site_p.E90_splice|ATG13_ENST00000524625.1_Splice_Site_p.E90_splice|ATG13_ENST00000312040.4_Splice_Site_p.E90_splice|ATG13_ENST00000359513.4_Splice_Site_p.E90_splice NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 90 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 AAGACTTCTGAGGTAAGGCTA 0.502000 25 31 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912571 29912571 + Nonsense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:29912571G>A ENST00000308748.5 + 1 531 c.279G>A c.(277-279)tgG>tgA p.W93* ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 93 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 TGTTCCTCTGGTACTGCTACC 0.682000 55 83 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153179298 153179298 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:153179298G>A ENST00000370028.3 - 9 1245 c.1188C>T c.(1186-1188)gaC>gaT p.D396D ARHGAP4_ENST00000537206.1_Silent_p.D333D|ARHGAP4_ENST00000350060.5_Silent_p.D356D|ARHGAP4_ENST00000370016.1_Silent_p.D335D|ARHGAP4_ENST00000393721.1_Silent_p.D178D NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 356 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGAATCTCGTCCCGCAGCT 0.652000 23 37 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042527 75042527 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:75042527G>A ENST00000343932.4 + 2 511 c.448G>A c.(448-450)Gcc>Acc p.A150T NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 150 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding p.A150T(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CTTCTCCATCGCCTCTGACCC 0.622000 108 167 0 0 1 0 0 COX6A1 1337 broad.mit.edu 37 12 120878307 120878307 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:120878307G>A ENST00000229379.2 + 3 334 c.297G>A c.(295-297)gtG>gtA p.V99V AL021546.6_ENST00000551806.1_Intron NM_004373.3 NP_004364.2 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 99 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCCTCATGTGAATCCACTTC 0.458000 19 23 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80049428 80049428 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:80049428C>T ENST00000306749.2 - 9 1380 c.1162G>A c.(1162-1164)Gtg>Atg p.V388M NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 388 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TTGATGCCCACGTTGCCGCCA 0.682000 10 9 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124266662 124266662 + Nonsense_Mutation SNP T T A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:124266662T>A ENST00000395571.3 - 3 2142 c.1525A>T c.(1525-1527)Aaa>Taa p.K509* ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K509*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Nonsense_Mutation_p.K509* NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 509 Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AACCATTTTTTAATCTCTCCT 0.348000 80 215 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531421 140531421 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140531421G>A ENST00000231136.1 + 1 1583 c.1583G>A c.(1582-1584)cGc>cAc p.R528H PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 528 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGAGTTCCGCGTGGGCGCC 0.657000 113 116 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25715915 25715915 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:25715915C>T ENST00000520164.1 - 14 1985 c.1448G>A c.(1447-1449)aGc>aAc p.S483N EBF2_ENST00000408929.3_Missense_Mutation_p.S335N|EBF2_ENST00000535548.1_Missense_Mutation_p.S214N NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 483 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GGGGACATTGCTGTAGCCATT 0.517000 38 120 0 0 1 0 0 CDK16 5127 broad.mit.edu 37 X 47085770 47085770 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:47085770C>T ENST00000457458.2 + 9 1323 c.903C>T c.(901-903)aaC>aaT p.N301N CDK16_ENST00000357227.4_Silent_p.N295N|CDK16_ENST00000518022.1_Silent_p.N295N|CDK16_ENST00000276052.6_Silent_p.N369N NM_033018.3 NP_148978.2 Q00536 CDK16_HUMAN cyclin-dependent kinase 16 295 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(3) 11 TGCTCATCAACGAGAGGGGAG 0.587000 17 20 0 0 1 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33037547 33037547 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:33037547C>T ENST00000419277.1 - 3 346 c.217G>A c.(217-219)Gtc>Atc p.V73I HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.V73I|HLA-DPA1_ENST00000463066.1_5'UTR NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 73 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 AGATGCCAGACGGTCTCCTTC 0.458000 41 28 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581397 33581397 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:33581397C>T ENST00000321505.4 + 6 3247 c.3067C>T c.(3067-3069)Cag>Tag p.Q1023* KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1029*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1029* KIAA1549-like CCTCCTCAGCCAGCTCTCGGC 0.597000 59 99 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72666576 72666576 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:72666576C>T ENST00000261180.4 + 1 114 c.18C>T c.(16-18)gcC>gcT p.A6A TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 6 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AAGACGACGCCGCGCTTCGGG 0.662000 11 10 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44146234 44146234 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:44146234A>G ENST00000223357.3 + 2 648 c.343A>G c.(343-345)Agg>Ggg p.R115G NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 115 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GGGGTCCCCCAGGCCGCCCAA 0.577000 15 5 0 0 1 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950201 2950201 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:2950201C>T ENST00000314222.4 - 1 484 c.394G>A c.(394-396)Gcc>Acc p.A132T NM_003311.3 NP_003302.1 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain, family A, member 2 132 Poly-Ala. apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGGGTGCGGCGGCCGCGGCA 0.756000 6 2 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994016 45994016 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:45994016C>A ENST00000400374.3 + 1 411 c.381C>A c.(379-381)ccC>ccA p.P127P TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 127 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GCTGTGTGCCCGTCTGCTGTG 0.647000 20 210 2.94398e-08 3.08099e-08 1 1 0 PLCH1 23007 broad.mit.edu 37 3 155206447 155206447 + Splice_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:155206447A>G ENST00000460012.1 - 20 2807 c.e20+1 PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCTCATACCTACCAGGCACTA 0.408000 24 28 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111217016 111217016 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:111217016T>C ENST00000369769.2 - 1 639 c.416A>G c.(415-417)tAc>tGc p.Y139C NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 139 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CGGGTCGAAGTACCTCATGCG 0.647000 73 84 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67790205 67790205 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:67790205G>A ENST00000539229.1 + 10 1202 c.1086G>A c.(1084-1086)ctG>ctA p.L362L ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Silent_p.L326L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Silent_p.L362L NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 364 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) CCCTGGCCCTGTACGCCTTCT 0.677000 57 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438269 179438269 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:179438269A>G ENST00000589042.1 - 326 72814 c.72590T>C c.(72589-72591)gTc>gCc p.V24197A TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15257A|TTN_ENST00000342992.6_Missense_Mutation_p.V21629A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15324A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15132A|TTN_ENST00000591111.1_Missense_Mutation_p.V22556A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22556 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAGCCATGACACGGAATAT 0.453000 81 158 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37005246 37005246 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:37005246T>C ENST00000523638.1 - 3 2016 c.895A>G c.(895-897)Aca>Gca p.T299A ZNF260_ENST00000588993.1_Missense_Mutation_p.T299A|ZNF260_ENST00000592282.1_Missense_Mutation_p.T299A|ZNF260_ENST00000593142.1_Missense_Mutation_p.T299A NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 299 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TTCTCTCCTGTATGAATATTG 0.353000 53 50 0 0 1 0 0 SCARB2 950 broad.mit.edu 37 4 77091020 77091020 + Splice_Site SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:77091020A>C ENST00000264896.2 - 8 1462 c.1113_splice c.e8+1 p.P371_splice SCARB2_ENST00000452464.2_Splice_Site_p.P228_splice NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 371 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) ATGTACTCACAGGATTAATGT 0.393000 38 61 0 0 1 0 0 FBXO45 200933 broad.mit.edu 37 3 196304421 196304421 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:196304421A>G ENST00000311630.6 + 2 713 c.416A>G c.(415-417)cAg>cGg p.Q139R FBXO45_ENST00000440469.1_5'UTR NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 139 B30.2/SPRY. nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus cell junction|postsynaptic membrane|presynaptic membrane protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CCCATTGCTCAGAGCACTGAT 0.498000 13 20 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183515755 183515755 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:183515755G>A ENST00000305135.5 + 22 3337 c.3142G>A c.(3142-3144)Gtc>Atc p.V1048I NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1048 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCAGCAGGCCGTCCTGACGAT 0.512000 29 35 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5494824 5494824 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:5494824A>G ENST00000355029.4 + 6 677 c.535A>G c.(535-537)Ata>Gta p.I179V NET1_ENST00000380359.3_Missense_Mutation_p.I125V|NET1_ENST00000542715.1_5'UTR NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 179 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 TTTTTAGGCAATATATGAAAT 0.323000 9 73 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30771603 30771603 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:30771603A>G ENST00000405659.1 + 10 2517 c.1808A>G c.(1807-1809)cAa>cGa p.Q603R CCDC157_ENST00000338306.3_Missense_Mutation_p.Q603R|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 603 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 GGGCGGCTCCAATCAATGCTG 0.617000 26 34 0 0 1 0 0 ZNF22 7570 broad.mit.edu 37 10 45499133 45499133 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:45499133C>T ENST00000298299.3 + 2 910 c.317C>T c.(316-318)aCg>aTg p.T106M CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 106 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) CGGATCCATACGGGGGAAAAG 0.418000 24 60 0 0 1 0 0 FBL 2091 broad.mit.edu 37 19 40331278 40331278 + Missense_Mutation SNP C C T rs139541583 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:40331278C>T ENST00000221801.3 - 2 273 c.160G>A c.(160-162)Ggt>Agt p.G54S NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 54 DMA/Gly-rich. rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) cctcctccaccgccgccgccg 0.662000 17 17 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8521547 8521547 + Splice_Site SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:8521547C>T ENST00000381196.4 - 17 1235 c.e17-1 PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACACGGCGAACTGGAACAAAA 0.438000 TSP Lung(15;0.13) 34 45 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176696631 176696631 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:176696631C>T ENST00000439151.2 + 16 5377 c.5332C>T c.(5332-5334)Cga>Tga p.R1778* NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1778 PWWP 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.R1778*(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CTGCCATCCTCGAGCTGTTCC 0.468000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 50 34 0 0 1 0 0 CLCN4 0 broad.mit.edu 37 X 10153098 10153098 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:10153098G>A ENST00000380833.4 + 3 417 c.26G>A c.(25-27)gGc>gAc p.G9D CLCN4_ENST00000380829.1_Missense_Mutation_p.G9D|CLCN4_ENST00000421085.2_Intron NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 9 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCGATGAGTGGCTCTGGAAAC 0.517000 5 107 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41284281 41284281 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:41284281C>T ENST00000347132.5 + 4 719 c.637C>T c.(637-639)Cgc>Tgc p.R213C KCNQ4_ENST00000509682.2_Missense_Mutation_p.R213C NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 213 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GCAGATCCTGCGCATGGTGCG 0.687000 23 25 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32351561 32351561 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:32351561G>A ENST00000298386.2 + 8 761 c.690G>A c.(688-690)acG>acA p.T230T RXFP2_ENST00000380314.1_Silent_p.T230T NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 230 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GCTTGTTTACGGGATTAAATT 0.318000 6 13 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32768513 32768513 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:32768513G>A ENST00000421745.2 + 62 12631 c.12497G>A c.(12496-12498)cGt>cAt p.R4166H NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4166 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTATTTCTTCGTCTTCCGGGC 0.483000 92 132 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43034148 43034148 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:43034148C>T ENST00000394056.2 + 6 1171 c.676C>T c.(676-678)Cgc>Tgc p.R226C KLC4_ENST00000394058.1_Missense_Mutation_p.R226C|KLC4_ENST00000259708.3_Missense_Mutation_p.R244C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000479388.1_Missense_Mutation_p.R226C Q9NSK0 KLC4_HUMAN kinesin light chain 4 226 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) AGCCCAAGGTCGCTATGAGGT 0.597000 43 84 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111117897 111117897 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:111117897C>A ENST00000360467.5 + 25 2228 c.1922C>A c.(1921-1923)cCt>cAt p.P641H NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 641 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCCGGCTTACCTGGACCACCA 0.597000 35 32 1.06647e-15 1.15184e-15 1 1 0 PCDHGB7 0 broad.mit.edu 37 5 140799074 140799074 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140799074G>A ENST00000398594.2 + 1 1648 c.1648G>A c.(1648-1650)Gtg>Atg p.V550M PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCTGCGCGTGTTGGTGGG 0.721000 23 71 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25675930 25675930 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:25675930C>A ENST00000382051.3 + 11 1279 c.1229C>A c.(1228-1230)cCc>cAc p.P410H SLC34A2_ENST00000504570.1_Missense_Mutation_p.P409H|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P409H NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 410 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCCCTTTCCCTTTGCATGG 0.602000 T ROS1 NSCLC 22 45 7.41877e-09 7.82003e-09 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 7 169 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234070428 234070428 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:234070428C>T ENST00000359570.5 + 13 1160 c.1160C>T c.(1159-1161)cCg>cTg p.P387L INPP5D_ENST00000455936.2_Missense_Mutation_p.P151L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P151L|INPP5D_ENST00000538935.1_Missense_Mutation_p.P386L Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 399 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCAGAGCAGCCGGAGCCCGAC 0.587000 13 10 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65402797 65402797 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:65402797C>T ENST00000355703.3 + 31 5601 c.5062C>T c.(5062-5064)Cgc>Tgc p.R1688C NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1688 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCCAGCATGGCGCAGCGCCAT 0.612000 12 7 0 0 1 0 0 SLC16A11 162515 broad.mit.edu 37 17 6946780 6946780 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:6946780G>A ENST00000308009.1 - 1 462 c.125C>T c.(124-126)gCg>gTg p.A42V SLC16A11_ENST00000447225.1_Missense_Mutation_p.A18V NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 42 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 GGCTGCGGCCGCCACCACCCA 0.697000 15 11 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44105047 44105047 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:44105047T>C ENST00000272286.2 + 13 2107 c.2017T>C c.(2017-2019)Tgg>Cgg p.W673R NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 673 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AAGTCAAGACTGGTGATTCAC 0.562000 OREG0014582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 32 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54570837 54570837 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:54570837T>C ENST00000251636.5 - 15 2577 c.2427_splice c.e15-1 p.E810_splice RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 810 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TGGGATGTATTCCTAAAAGAA 0.358000 38 27 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79973119 79973119 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:79973119C>T ENST00000373275.4 - 19 2400 c.2184G>A c.(2182-2184)gcG>gcA p.A728A BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 728 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTCTGCTCCACGCCATGAGAT 0.393000 56 88 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152666 50152666 + Silent SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:50152666G>T ENST00000284509.6 - 28 3445 c.3304C>A c.(3304-3306)Cgg>Agg p.R1102R ATP8B4_ENST00000559829.1_Silent_p.R1102R NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1102 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCTGCCACCGGCGGATCTGG 0.502000 40 62 7.40236e-40 8.35505e-40 1 1 0 MAGEE1 57692 broad.mit.edu 37 X 75649801 75649801 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:75649801A>C ENST00000361470.2 + 1 1756 c.1478A>C c.(1477-1479)cAg>cCg p.Q493P NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 493 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTATGGAACAGAACGTAGCT 0.493000 38 43 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26436415 26436415 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:26436415C>T ENST00000265944.5 + 23 2728 c.2562C>T c.(2560-2562)gaC>gaT p.D854D MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 854 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTCCTACTGACATTGTGCTAC 0.393000 34 75 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181453 128181453 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:128181453G>A ENST00000469083.1 - 2 3193 c.636C>T c.(634-636)gaC>gaT p.D212D DNAJB8_ENST00000319153.3_Silent_p.D212D Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 212 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TGAGCTGCCCGTCTTCCTCCA 0.612000 90 100 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190606079 190606079 + Missense_Mutation SNP G G C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:190606079G>C ENST00000520309.1 + 20 3800 c.3712G>C c.(3712-3714)Gca>Cca p.A1238P ANKAR_ENST00000313581.4_Missense_Mutation_p.A1238P|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.A1167P NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1238 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GAATTTAATAGCAAGCCTGGC 0.338000 25 42 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128037026 128037026 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:128037026G>A ENST00000338791.6 - 11 1475 c.1125C>T c.(1123-1125)atC>atT p.I375I IMPDH1_ENST00000378717.4_Silent_p.I306I|IMPDH1_ENST00000480861.1_Silent_p.I285I|IMPDH1_ENST00000470772.1_Silent_p.I289I|IMPDH1_ENST00000348127.6_Silent_p.I339I|IMPDH1_ENST00000419067.2_Silent_p.I342I|IMPDH1_ENST00000343214.4_Silent_p.I265I|IMPDH1_ENST00000496200.1_Silent_p.I265I|IMPDH1_ENST00000354269.5_Silent_p.I365I NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 290 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ACTTCTGTTTGATGTAATGCA 0.562000 35 57 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10555851 10555851 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:10555851G>A ENST00000583535.1 - 4 321 c.234C>T c.(232-234)taC>taT p.Y78Y MYH3_ENST00000226209.7_Silent_p.Y78Y NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 78 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.Y78Y(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GGTTCATGGCGTACACATCCT 0.468000 45 51 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16456084 16456084 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:16456084G>A ENST00000358432.5 - 16 2824 c.2669_splice c.e16-1 p.R890_splice NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 890 Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGATAGACACGCtgcaacagg 0.652000 12 28 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67081776 67081776 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:67081776G>A ENST00000284425.2 - 31 4193 c.4019C>T c.(4018-4020)aCt>aTt p.T1340I ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1340 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTCTCCAGCAGTTGGCTTTGT 0.358000 13 15 0 0 1 0 0 ASAP3 55616 broad.mit.edu 37 1 23767955 23767955 + Silent SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:23767955G>T ENST00000336689.3 - 9 803 c.759C>A c.(757-759)gcC>gcA p.A253A ASAP3_ENST00000437606.2_Silent_p.A244A NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 253 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CGTCCTCCTGGGCCTGATGGA 0.582000 9 20 0.0477658 0.0479846 1 1 0 EXD3 54932 broad.mit.edu 37 9 140243587 140243587 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:140243587G>A ENST00000340951.4 - 16 2000 c.1805C>T c.(1804-1806)gCg>gTg p.A602V EXD3_ENST00000342129.4_Missense_Mutation_p.A282V NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 602 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CGGTGCTGACGCTTTCTGCAG 0.667000 10 12 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169846643 169846643 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:169846643C>T ENST00000494943.1 - 8 1649 c.1581G>A c.(1579-1581)caG>caA p.Q527Q PHC3_ENST00000467570.1_Silent_p.Q486Q|PHC3_ENST00000495893.1_Silent_p.Q539Q Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 527 Gln-rich.|Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAATTTCAGGCTGCACTTGTA 0.507000 69 74 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1017702 1017702 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:1017702C>T ENST00000398484.2 + 6 1111 c.531C>T c.(529-531)caC>caT p.H177H FGFRL1_ENST00000264748.6_Silent_p.H177H|FGFRL1_ENST00000510644.1_Silent_p.H177H|FGFRL1_ENST00000504138.1_Silent_p.H177H Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 177 Ig-like C2-type 2. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCAGCGGGCACCCTCGGCCCG 0.667000 6 8 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141334689 141334689 + Missense_Mutation SNP G G T rs439293 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:141334689G>T ENST00000231484.3 - 1 3938 c.2728C>A c.(2728-2730)Ctg>Atg p.L910M NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 910 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCGTCTCAGGGTTGCAGAG 0.632000 36 85 1.96642e-18 2.15299e-18 1 1 0 DPYSL2 1808 broad.mit.edu 37 8 26481666 26481666 + Silent SNP C C T rs113199330 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:26481666C>T ENST00000311151.5 + 4 733 c.321C>T c.(319-321)caC>caT p.H107H DPYSL2_ENST00000523027.1_Silent_p.H71H|DPYSL2_ENST00000521913.1_Silent_p.H71H NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 107 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) TAGTTGACCACGTTGTTCCTG 0.532000 16 104 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132092544 132092544 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:132092544G>A ENST00000370836.2 - 2 502 c.87C>T c.(85-87)cgC>cgT p.R29R HS6ST2_ENST00000521489.1_Silent_p.R29R NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 29 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) TGGAATGCCGGCGGGGACAGG 0.711000 12 13 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130860955 130860955 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:130860955G>A ENST00000373064.5 + 1 373 c.110G>A c.(109-111)aGt>aAt p.S37N SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373066.5_Intron NM_052901.4 NP_443133.2 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 37 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 TTCAAGCTCAGTGTCTTCATC 0.582000 66 94 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136595269 136595269 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:136595269G>A ENST00000371872.4 - 5 988 c.731C>T c.(730-732)aCg>aTg p.T244M SARDH_ENST00000439388.1_Missense_Mutation_p.T244M|SARDH_ENST00000298628.5_Missense_Mutation_p.T244M|SARDH_ENST00000371867.1_Missense_Mutation_p.T155M|SARDH_ENST00000422262.2_Missense_Mutation_p.T76M NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 244 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AAAATCATCCGTCCACACACG 0.587000 33 55 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150840935 150840935 + Missense_Mutation SNP A A C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:150840935A>C ENST00000370357.4 + 14 1963 c.1718A>C c.(1717-1719)aAg>aCg p.K573T NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 573 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) cagccactgaagcaTAATGTC 0.522000 31 39 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153129471 153129471 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:153129471G>A ENST00000370060.1 - 26 3513 c.3322_splice c.e26-1 p.G1108_splice L1CAM_ENST00000543994.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G1108_splice|L1CAM_ENST00000370055.1_Splice_Site_p.G1103_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G1108_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G1103_splice NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1108 Fibronectin type-III 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCTCACGCGGCCTGAGGGTG 0.637000 23 37 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53162616 53162616 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:53162616A>T ENST00000332411.2 - 9 1851 c.1798T>A c.(1798-1800)Tcc>Acc p.S600T NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 600 Tail. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCAGAGCTGGAGCCCATTCCA 0.622000 25 47 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142749858 142749858 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:142749858C>T ENST00000418316.1 + 1 442 c.421C>T c.(421-423)Cag>Tag p.Q141* NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TATGTGTGTCCAGCTGGCTGG 0.587000 6 90 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6302765 6302765 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:6302765G>A ENST00000226760.1 + 8 1413 c.1243G>A c.(1243-1245)Gtc>Atc p.V415I WFS1_ENST00000503569.1_Missense_Mutation_p.V415I NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 415 Missing (in WFS). endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TGTCTTCTTCGTCATCTTCTC 0.597000 78 114 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31382762 31382762 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:31382762T>C ENST00000268296.4 + 16 2070 c.1949T>C c.(1948-1950)gTa>gCa p.V650A ITGAX_ENST00000562522.1_Missense_Mutation_p.V650A NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 650 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CAGACCCTGGTACAGTCCAAC 0.582000 41 38 0 0 1 0 0 TRIM62 55223 broad.mit.edu 37 1 33625365 33625365 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:33625365C>A ENST00000291416.5 - 3 918 c.685G>T c.(685-687)Gcc>Tcc p.A229S TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.A108S NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 229 intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) AGGATCTGGGCTCCCTCCTGG 0.677000 42 55 3.61848e-18 3.95686e-18 1 1 0 LUZP4 51213 broad.mit.edu 37 X 114536597 114536597 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:114536597T>C ENST00000451986.2 + 2 165 c.5T>C c.(4-6)cTg>cCg p.L2P LUZP4_ENST00000371920.3_Silent_p.A44A Q9P127 LUZP4_HUMAN leucine zipper protein 4 0 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 GGACAAATGCTGAAGAAGAAA 0.333000 52 94 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 31 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162514 96162514 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:96162514G>A ENST00000225235.4 + 1 254 c.144G>A c.(142-144)ccG>ccA p.P48P NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 48 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CTGTGGAGCCGCCggaggagg 0.726000 4 9 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35555086 35555086 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:35555086C>T ENST00000455600.1 + 3 2613 c.2044C>T c.(2044-2046)Cgc>Tgc p.R682C NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 682 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACCAGTCCTTCGCTACAGCAA 0.577000 71 91 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698625 70698625 + Missense_Mutation SNP C C A rs139508787 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:70698625C>A ENST00000338779.6 - 14 1621 c.1347G>T c.(1345-1347)atG>atT p.M449I FLJ00418_ENST00000597002.1_De_novo_Start_InFrame NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 449 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 GCGTCAGCACCATGGCCAGGT 0.667000 10 19 6.40141e-05 6.54317e-05 1 1 0 LCE1B 353132 broad.mit.edu 37 1 152784988 152784988 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:152784988C>A ENST00000360090.3 + 1 542 c.66C>A c.(64-66)ccC>ccA p.P22P NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 22 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) agtgccctcccaagtgccTCA 0.617000 47 76 4.10826e-27 4.59559e-27 1 1 0 TCF4 6925 broad.mit.edu 37 18 52896149 52896149 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:52896149T>G ENST00000354452.3 - 18 2419 c.1808A>C c.(1807-1809)aAg>aCg p.K603T TCF4_ENST00000561992.1_Missense_Mutation_p.K469T|TCF4_ENST00000561831.3_Missense_Mutation_p.K439T|TCF4_ENST00000398339.1_Missense_Mutation_p.K705T|TCF4_ENST00000537578.1_Missense_Mutation_p.K579T|TCF4_ENST00000565018.2_Missense_Mutation_p.K603T|TCF4_ENST00000540999.1_Missense_Mutation_p.K575T|TCF4_ENST00000566279.1_Missense_Mutation_p.K543T|TCF4_ENST00000537856.3_Missense_Mutation_p.K469T|TCF4_ENST00000457482.3_Missense_Mutation_p.K443T|TCF4_ENST00000567880.1_Missense_Mutation_p.K539T|TCF4_ENST00000564228.1_Missense_Mutation_p.K528T|TCF4_ENST00000568673.1_Missense_Mutation_p.K579T|TCF4_ENST00000568740.1_Missense_Mutation_p.K574T|TCF4_ENST00000356073.4_Missense_Mutation_p.K599T|TCF4_ENST00000570287.2_Missense_Mutation_p.K439T|TCF4_ENST00000564403.2_Missense_Mutation_p.K609T|TCF4_ENST00000570177.2_Missense_Mutation_p.K469T|TCF4_ENST00000544241.2_Missense_Mutation_p.K532T|TCF4_ENST00000564999.1_Missense_Mutation_p.K599T|TCF4_ENST00000566286.1_Missense_Mutation_p.K596T|TCF4_ENST00000543082.1_Missense_Mutation_p.K557T NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 599 Helix-loop-helix motif. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GGTCTGGGGCTTGTCACTCTT 0.617000 35 63 0 0 1 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220073024 220073024 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:220073024G>A ENST00000409594.1 + 5 676 c.481G>A c.(481-483)Gtc>Atc p.V161I ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V161I Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 161 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TACAAGCACTGTCCCCAGCCC 0.547000 22 21 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76889125 76889125 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:76889125T>C ENST00000373344.5 - 18 5099 c.4885A>G c.(4885-4887)Aat>Gat p.N1629D ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1591D NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1629 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAAGCAGTATTAAGAGGACAA 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 26 41 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681537 44681537 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:44681537T>C ENST00000381176.4 - 4 502 c.370A>G c.(370-372)Aac>Gac p.N124D NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 124 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) ATGTCGTAGTTCATTGCCGAG 0.557000 26 266 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49421827 49421827 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:49421827C>T ENST00000301067.7 - 46 14479 c.14480G>A c.(14479-14481)gGc>gAc p.G4827D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGGCTCAGTGCCTGCCCGGGC 0.607000 21 27 0 0 1 0 0 MC1R 4157 broad.mit.edu 37 16 89985820 89985820 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:89985820A>G ENST00000555427.1 + 3 2457 c.154A>G c.(154-156)Agc>Ggc p.S52G MC1R_ENST00000555147.1_Missense_Mutation_p.S52G|TUBB3_ENST00000556922.1_Missense_Mutation_p.S52G melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGGGCTGGTGAGCTTGGTGGA 0.642000 Melanoma, Familial Clustering of 50 71 0 0 1 0 0 P2RY12 0 broad.mit.edu 37 3 151056503 151056503 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:151056503C>T ENST00000302632.3 - 3 430 c.131G>A c.(130-132)gGc>gAc p.G44D MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 44 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) CATCGCCAGGCCATTTGTGAT 0.403000 19 36 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1988038 1988038 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:1988038C>T ENST00000382882.3 - 5 1876 c.759G>A c.(757-759)ccG>ccA p.P253P NELFA_ENST00000542778.1_Silent_p.P107P|NELFA_ENST00000411638.1_Silent_p.P242P NM_005663.4 NP_005654.3 negative elongation factor complex member A TCCTGGAAGGCGGGATGGGGG 0.697000 10 7 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528916 76528916 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:76528916C>T ENST00000307431.8 + 15 2572 c.2187C>T c.(2185-2187)tgC>tgT p.C729C CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.C733C|CNTNAP4_ENST00000478060.1_Silent_p.C657C|CNTNAP4_ENST00000377504.4_Silent_p.C681C NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 730 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGGGAAACTGCATTGATTCTC 0.378000 49 85 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140208727 140208727 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140208727G>A ENST00000529310.1 + 1 1165 c.1051G>A c.(1051-1053)Gca>Aca p.A351T PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTGAGATAGCACTGACTTC 0.488000 91 80 0 0 1 0 0 PLEKHA8P1 0 broad.mit.edu 37 12 45568424 45568424 + RNA SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:45568424C>A ENST00000256692.5 - 0 261 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GACAATATTCCCCTACAGAGA 0.488000 23 22 1.85244e-09 1.95734e-09 1 1 0 SLC28A3 64078 broad.mit.edu 37 9 86900965 86900965 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:86900965C>T ENST00000376238.4 - 13 1391 c.1342G>A c.(1342-1344)Gcc>Acc p.A448T SLC28A3_ENST00000537648.1_Missense_Mutation_p.A379T|RP11-380F14.2_ENST00000419815.1_RNA NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 448 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GCGATGTTGGCCACCAGGGAG 0.473000 16 19 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67985067 67985067 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:67985067C>T ENST00000422611.2 - 8 1318 c.1279G>A c.(1279-1281)Ggc>Agc p.G427S SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425S|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425S|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394S|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419S|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377S|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G425S NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 425 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAGAAGATGCCGACCAGCACG 0.622000 72 108 0 0 1 0 0 TMEM106A 113277 broad.mit.edu 37 17 41369782 41369782 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:41369782G>A ENST00000331615.3 + 9 988 c.751G>A c.(751-753)Gca>Aca p.A251T TMEM106A_ENST00000536052.1_Missense_Mutation_p.A204T|TMEM106A_ENST00000541594.1_Missense_Mutation_p.A203T|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A251T|LINC00854_ENST00000427995.1_RNA NM_145041.1 NP_659478.1 Q96A25 T106A_HUMAN transmembrane protein 106A 251 integral to membrane NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) CCGAGGAAACGCATCTGTGCC 0.577000 127 183 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60718781 60718781 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:60718781G>A ENST00000227880.3 - 1 476 c.243C>T c.(241-243)ggC>ggT p.G81G NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 81 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 GGTAGGAGGCGCCCAGGAATA 0.701000 4 3 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135287507 135287507 + Missense_Mutation SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:135287507C>G ENST00000367837.5 - 17 2209 c.2003G>C c.(2002-2004)cGt>cCt p.R668P HBS1L_ENST00000367826.2_Missense_Mutation_p.R626P|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603P|HBS1L_ENST00000527578.1_Missense_Mutation_p.R504P|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504P|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392P NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 668 signal transduction GTP binding|GTPase activity|translation elongation factor activity p.R668P(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) ACCACCGTAACGTAGCATGAA 0.378000 45 126 0 0 1 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932984 153932984 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:153932984G>T ENST00000368623.3 - 3 1324 c.565C>A c.(565-567)Ctc>Atc p.L189I SLC39A1_ENST00000537590.1_Missense_Mutation_p.L87I|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L189I|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L189I|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L189I Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 189 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) ACGGAGTGGAGGGCCAGGGAG 0.677000 31 33 9.78306e-22 1.08194e-21 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37546949 37546949 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:37546949T>C ENST00000299824.1 + 11 1533 c.1344T>C c.(1342-1344)caT>caC p.H448H PPP1R16B_ENST00000373331.2_Silent_p.H406H NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 448 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GGAAGGTGCATGAGGTGCCTG 0.627000 11 349 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38651194 38651194 + RNA SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:38651194T>C ENST00000494540.1 + 0 341 NR_003086.1 TTAGACCGTATATATCTAAAT 0.358000 23 49 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850389 58850389 + Silent SNP G G A rs140941763 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:58850389G>A ENST00000329665.4 + 3 1320 c.1173G>A c.(1171-1173)caG>caA p.Q391Q NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 391 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CCTTCAGCCAGAGCACGCACC 0.637000 46 64 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53543382 53543382 + Missense_Mutation SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:53543382C>G ENST00000371500.3 + 9 1192 c.851C>G c.(850-852)cCg>cGg p.P284R PODN_ENST00000395871.2_Missense_Mutation_p.P161R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.P303R NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 255 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAGATCCCCCCGGGGGCCTTC 0.612000 59 142 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27423872 27423872 + Silent SNP G G A rs140378947 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:27423872G>A ENST00000310574.3 - 16 2231 c.1758C>T c.(1756-1758)taC>taT p.Y586Y SLC5A6_ENST00000408041.1_Silent_p.Y586Y NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 586 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CTACCTGGCCGTAGCTCCTGC 0.592000 4 23 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124418011 124418011 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:124418011T>C ENST00000409039.3 + 76 13101 c.13076T>C c.(13075-13077)gTg>gCg p.V4359A DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4359 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCACACAAGTGACCAAGTTC 0.592000 53 52 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75550867 75550867 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:75550867A>G ENST00000604729.1 + 8 1373 c.1076A>G c.(1075-1077)aAg>aGg p.K359R ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K359R zinc finger, SWIM-type containing 8 GAGATGTTCAAGCGGAGGGAC 0.607000 23 65 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31594934 31594934 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:31594934C>T ENST00000376033.2 + 11 1483 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W PRRC2A_ENST00000376007.4_Missense_Mutation_p.R417W NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 417 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCACCTCACCGGGGCCCCGC 0.652000 41 30 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114543240 114543240 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:114543240G>A ENST00000374287.3 - 4 295 c.35C>T c.(34-36)gCa>gTa p.A12V C9orf84_ENST00000318737.4_Missense_Mutation_p.A12V|C9orf84_ENST00000374283.5_Missense_Mutation_p.A76V Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 12 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAAGAAACTTGCTTTCCATTG 0.353000 31 37 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230907846 230907846 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:230907846G>A ENST00000354537.1 + 7 957 c.e7+1 CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000271971.2_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GGAGCGACAGGTCAGTCACCC 0.597000 37 57 0 0 1 0 0 RBM25 58517 broad.mit.edu 37 14 73577560 73577560 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:73577560C>T ENST00000261973.7 + 15 1999 c.1714C>T c.(1714-1716)Cgc>Tgc p.R572C RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.R572C NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 572 Glu-rich.|Necessary for nuclear speckle localization. RRRQ -> EAQE (in Ref. 8; AAC41999). apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) GGCTGAGAGGCGCAGGCAGCC 0.388000 7 18 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18787305 18787305 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:18787305G>A ENST00000396576.2 + 3 691 c.190G>A c.(190-192)Gtt>Att p.V64I CACNB2_ENST00000377331.2_Missense_Mutation_p.V91I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V64I|CACNB2_ENST00000377328.1_Missense_Mutation_p.V119I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V65I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V119I|CACNB2_ENST00000324631.7_Missense_Mutation_p.V119I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V71I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V91I NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 119 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGCATTTGCGGTTCGGACAAA 0.448000 20 32 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15572069 15572069 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:15572069C>A ENST00000343625.6 - 4 584 c.504G>T c.(502-504)gaG>gaT p.E168D NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 168 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GGATGCTGCCCTCGGAGCTAG 0.627000 13 21 9.31168e-06 9.57367e-06 1 1 0 FAAH2 158584 broad.mit.edu 37 X 57337042 57337042 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:57337042A>G ENST00000374900.4 + 3 412 c.292A>G c.(292-294)Aag>Gag p.K98E NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 98 K -> R (in Ref. 1; BAB71007). integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GGAAGCGATGAAGGAGGCTCA 0.393000 HNSCC(52;0.14) 20 30 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196922833 196922833 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:196922833G>A ENST00000312428.6 - 2 123 c.23C>T c.(22-24)tCg>tTg p.S8L DNAH7_ENST00000410072.1_Missense_Mutation_p.S8L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 8 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTGCTGGCCGATTTATCCTG 0.313000 31 33 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20864412 20864412 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:20864412T>C ENST00000381552.1 + 5 865 c.497T>C c.(496-498)gTt>gCt p.V166A SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V48A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.V166A Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 166 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCAGTTTCAGTTATGGAAAAA 0.343000 24 40 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139221883 139221883 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:139221883C>A ENST00000274710.3 + 15 2345 c.2140C>A c.(2140-2142)Ctc>Atc p.L714I NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 714 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATATCCACCTCCTGGCTAT 0.473000 21 52 1.10513e-12 1.18051e-12 1 1 0 ZDHHC7 55625 broad.mit.edu 37 16 85015539 85015539 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:85015539C>A ENST00000313732.4 - 4 729 c.377G>T c.(376-378)gGg>gTg p.G126V ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G163V NM_017740.2 NP_060210.2 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 126 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 GATGACTTCCCCGGGCTTCAG 0.527000 87 100 3.98749e-38 4.4949e-38 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17108016 17108016 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:17108016C>T ENST00000443236.1 - 11 1172 c.1141G>A c.(1141-1143)Gat>Aat p.D381N CPAMD8_ENST00000388925.4_Missense_Mutation_p.D334N NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 334 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGGAGTCATCGAACGCGACC 0.642000 17 25 0 0 1 0 0 NR4A1 0 broad.mit.edu 37 12 52451181 52451181 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:52451181G>A ENST00000545748.1 + 7 2564 c.1569G>A c.(1567-1569)gtG>gtA p.V523V NR4A1_ENST00000550082.1_Silent_p.V482V|NR4A1_ENST00000394825.1_Silent_p.V469V|NR4A1_ENST00000394824.2_Silent_p.V469V|NR4A1_ENST00000243050.1_Silent_p.V469V|NR4A1_ENST00000360284.3_Silent_p.V482V P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 469 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CAGGCCTGGTGCTACACCGGC 0.602000 30 49 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150531877 150531877 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:150531877C>T ENST00000271643.4 + 17 3114 c.2878C>T c.(2878-2880)Cct>Tct p.P960S ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P983S|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.P960S NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 960 TSP type-1 5. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCCCAGGCCCCCTGCCCTGCA 0.617000 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 53 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54948702 54948702 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:54948702G>T ENST00000173898.7 + 2 135 c.23G>T c.(22-24)gGa>gTa p.G8V TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G8V|TRO_ENST00000319167.8_Missense_Mutation_p.G8V|TRO_ENST00000375022.4_Missense_Mutation_p.G8V|TRO_ENST00000399736.1_Missense_Mutation_p.G8V|TRO_ENST00000484031.1_3'UTR NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 8 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 AATGACTACGGATATAGGGTG 0.532000 8 11 1.12685e-05 1.1572e-05 1 1 0 DGKB 1607 broad.mit.edu 37 7 14217687 14217687 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:14217687G>A ENST00000403951.2 - 24 2634 c.2215C>T c.(2215-2217)Cgg>Tgg p.R739W DGKB_ENST00000258767.5_Missense_Mutation_p.R739W|DGKB_ENST00000444700.2_Missense_Mutation_p.R720W|DGKB_ENST00000399322.3_Missense_Mutation_p.R739W|DGKB_ENST00000407950.1_Missense_Mutation_p.R731W|DGKB_ENST00000406247.3_Missense_Mutation_p.R739W|DGKB_ENST00000402815.1_Missense_Mutation_p.R738W Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 739 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TGAGCCAGCCGCCGGCCAGCA 0.507000 39 61 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237048 29237048 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:29237048C>T ENST00000382535.3 + 2 932 c.563C>T c.(562-564)gCg>gTg p.A188V FOXG1_ENST00000313071.4_Missense_Mutation_p.A188V P55316 FOXG1_HUMAN forkhead box G1 188 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AGCTACAACGCGCTCATCATG 0.612000 16 29 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 1976422 1976422 + Nonsense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:1976422G>A ENST00000406869.1 - 17 2265 c.1708C>T c.(1708-1710)Cga>Tga p.R570* MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.R478*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.R570*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.R570* Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 570 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CCGCGCAGTCGCTCGCACTCC 0.692000 8 11 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132306088 132306088 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:132306088G>A ENST00000331898.7 - 6 1407 c.829C>T c.(829-831)Cgc>Tgc p.R277C OPCML_ENST00000524381.1_Missense_Mutation_p.R270C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R277C|OPCML_ENST00000374778.4_Missense_Mutation_p.R236C NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 277 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GTGGACATGCGGCCTTTGTTT 0.463000 29 62 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273254 139273254 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:139273254G>T ENST00000298532.2 - 21 3393 c.3025C>A c.(3025-3027)Ctg>Atg p.L1009M NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1009 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCGGGGCCCAGGGCAGGGGCT 0.682000 11 21 0.00010058 0.000102688 1 1 0 KLKB1 3818 broad.mit.edu 37 4 187159508 187159508 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:187159508T>C ENST00000264690.6 + 6 774 c.587T>C c.(586-588)cTt>cCt p.L196P KLKB1_ENST00000513864.1_Missense_Mutation_p.L196P NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 196 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CCCTGTGCCCTTTCAGAAATT 0.498000 32 45 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12246317 12246317 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:12246317C>T ENST00000256194.4 + 13 1926 c.1638C>T c.(1636-1638)cgC>cgT p.R546R MICAL2_ENST00000342902.5_Silent_p.R546R|MICAL2_ENST00000379612.3_Silent_p.R546R|MICAL2_ENST00000537344.1_Silent_p.R546R|MICAL2_ENST00000527546.1_Silent_p.R546R NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 546 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CATCCTGGCGCAGTGGGTTGG 0.637000 32 23 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141295 20141295 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:20141295G>A ENST00000375121.2 - 1 476 c.300C>T c.(298-300)cgC>cgT p.R100R RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 100 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCTCATGGTCGCGCAGGCTGC 0.667000 33 53 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176004718 176004718 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:176004718G>A ENST00000510636.1 + 14 1705 c.1431G>A c.(1429-1431)agG>agA p.R477R CDHR2_ENST00000506348.1_Silent_p.R477R|CDHR2_ENST00000261944.5_Silent_p.R477R NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 477 Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ATGACCACAGGCCCACGTTTC 0.607000 27 59 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119791 3119791 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:3119791C>T ENST00000304094.1 + 1 877 c.877C>T c.(877-879)Cgg>Tgg p.R293W NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R293W(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TCTGAGAAATCGGGACATGAA 0.468000 56 92 0 0 1 0 0 RASSF7 8045 broad.mit.edu 37 11 563280 563280 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:563280C>A ENST00000397583.3 + 4 1347 c.914C>A c.(913-915)cCg>cAg p.P305Q RASSF7_ENST00000454668.2_Missense_Mutation_p.P305Q|RASSF7_ENST00000431809.1_Missense_Mutation_p.P305Q|RASSF7_ENST00000397582.3_Missense_Mutation_p.P305Q|RASSF7_ENST00000344375.4_Missense_Mutation_p.P305Q NM_003475.3 NP_003466.1 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 305 Pro-rich. regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGCTGCCACCGCCCCCACGG 0.682000 7 14 2.0095e-06 2.08067e-06 1 1 0 RNPEPL1 57140 broad.mit.edu 37 2 241517019 241517019 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:241517019T>C ENST00000270357.3 + 11 1788 c.1195T>C c.(1195-1197)Tca>Cca p.S399P RNPEPL1_ENST00000464550.1_3'UTR NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 399 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CCTGCAGATGTCACGCATGTA 0.697000 26 31 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63995969 63995969 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:63995969G>A ENST00000373789.3 - 6 638 c.542C>T c.(541-543)aCa>aTa p.T181I RTKN2_ENST00000315289.2_5'UTR|RTKN2_ENST00000395265.1_Missense_Mutation_p.T181I NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 181 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) AGATTCTTCTGTACAGCAACT 0.348000 18 41 0 0 1 0 0 TIMM10B 26515 broad.mit.edu 37 11 6503065 6503065 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:6503065G>T ENST00000254616.6 + 2 188 c.118G>T c.(118-120)Gct>Tct p.A40S TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Missense_Mutation_p.A40S NM_012192.3 NP_036324.1 translocase of inner mitochondrial membrane 10 homolog B (yeast) GCACCACCGAGCTCTGGACGC 0.572000 29 42 2.12542e-12 2.26763e-12 1 1 0 ALPK3 57538 broad.mit.edu 37 15 85383002 85383002 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:85383002A>G ENST00000258888.5 + 5 1265 c.1098A>G c.(1096-1098)tcA>tcG p.S366S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 366 Ig-like 1. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGTCCTGCTCAGGGGTCCTGG 0.607000 44 64 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25990452 25990452 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:25990452T>C ENST00000435504.4 - 8 1068 c.775_splice c.e8+1 p.R259_splice ASXL2_ENST00000336112.4_Splice_Site_p.R231_splice|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.R259*(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAAACTTACTGGTATGGAGT 0.373000 15 29 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100896035 100896035 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:100896035G>A ENST00000369208.3 - 8 1619 c.837C>T c.(835-837)tgC>tgT p.C279C SIM1_ENST00000262901.4_Silent_p.C279C P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 279 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AATGGTGCGCGCAGCGCAGGT 0.622000 12 28 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50381767 50381767 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:50381767C>A ENST00000221543.5 + 3 432 c.133C>A c.(133-135)Ctc>Atc p.L45I TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Missense_Mutation_p.L12I NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 45 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CAATGACGTCCTCCTGCACTG 0.537000 36 36 6.1244e-12 6.52625e-12 1 1 0 FBXW5 54461 broad.mit.edu 37 9 139836499 139836499 + Splice_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:139836499G>A ENST00000325285.3 - 6 1174 c.1096_splice c.e6+1 p.I365_splice FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 365 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GGGGTGTACCGATCTGGTGTG 0.662000 8 18 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105957717 105957717 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:105957717G>A ENST00000357060.3 - 9 1290 c.1175C>T c.(1174-1176)gCa>gTa p.A392V WDR96_ENST00000369720.1_Missense_Mutation_p.A323V|WDR96_ENST00000278064.2_Missense_Mutation_p.A323V|WDR96_ENST00000428666.1_Missense_Mutation_p.A393V NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 392 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAAGTCAATTGCCTGAAATTT 0.343000 38 27 0 0 1 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66298469 66298469 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:66298469G>A ENST00000419755.3 + 15 1767 c.1689G>A c.(1687-1689)gcG>gcA p.A563A BBS1_ENST00000455748.2_Silent_p.A429A|BBS1_ENST00000393994.2_Silent_p.A397A|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Silent_p.A526A ACAACGAGGCGCTCTATTCCC 0.587000 29 43 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17126304 17126304 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:17126304T>C ENST00000377833.4 - 17 2332 c.2267A>G c.(2266-2268)cAa>cGa p.Q756R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 756 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTCTGGCATTGCAGCTCCAC 0.443000 38 41 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26192151 26192151 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:26192151C>T ENST00000056233.3 + 1 292 c.33C>T c.(31-33)ggC>ggT p.G11G NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 11 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GGTCGGCCGGCGGCGGCCTCC 0.756000 13 17 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99439573 99439573 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:99439573G>A ENST00000397899.2 - 7 1494 c.1163C>T c.(1162-1164)gCg>gTg p.A388V NM_207362.2 NP_997245.2 KIAA1211-like CACCTCCTCCGCCTTGTCCGT 0.751000 15 14 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111423966 111423966 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:111423966G>A ENST00000428084.1 - 34 3743 c.3471C>T c.(3469-3471)ggC>ggT p.G1157G DOCK4_ENST00000437633.1_Silent_p.G1148G|DOCK4_ENST00000494651.2_Silent_p.G31G Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1148 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TTAATGAAACGCCACTTTCCC 0.408000 6 7 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243577 47243577 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:47243577G>T ENST00000300404.2 + 9 1295 c.1236G>T c.(1234-1236)gaG>gaT p.E412D B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E326D|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E352D NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 412 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CCAAGATTGAGGTGCTGGTGG 0.502000 31 38 5.77227e-19 6.33577e-19 1 1 0 ABL2 27 broad.mit.edu 37 1 179078368 179078368 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:179078368C>T ENST00000502732.1 - 12 2237 c.2034G>A c.(2032-2034)caG>caA p.Q678Q ABL2_ENST00000504405.1_Silent_p.Q642Q|ABL2_ENST00000344730.3_Silent_p.Q663Q|ABL2_ENST00000511413.1_Silent_p.Q678Q|ABL2_ENST00000367623.4_Silent_p.Q657Q|ABL2_ENST00000408940.3_Silent_p.Q642Q|ABL2_ENST00000507173.1_Silent_p.Q657Q|ABL2_ENST00000512653.1_Silent_p.Q663Q NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 678 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCTTATGGGGCTGATTCTCCA 0.512000 T ETV6 AML 86 179 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30594122 30594122 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:30594122A>G ENST00000395216.2 - 3 1136 c.977T>C c.(976-978)cTc>cCc p.L326P AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L311P NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 ACTGAGGAGGAGGGAAGAATA 0.647000 42 61 0 0 1 0 0 C11orf65 160140 broad.mit.edu 37 11 108332220 108332220 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:108332220A>G ENST00000525729.1 - 2 136 c.67T>C c.(67-69)Tgg>Cgg p.W23R C11orf65_ENST00000393084.1_Missense_Mutation_p.W23R|C11orf65_ENST00000529391.1_Missense_Mutation_p.W23R Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 23 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) AAACTTTTCCAGGCCTGCTGA 0.308000 63 83 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126311887 126311887 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:126311887C>A ENST00000337318.3 - 5 1404 c.1193G>T c.(1192-1194)cGg>cTg p.R398L FAM53B_ENST00000392754.3_Missense_Mutation_p.R398L|RP11-12J10.3_ENST00000494792.1_Intron NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 398 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) CCCGCGGTCCCGCCAGGCTGC 0.672000 65 42 2.79145e-41 3.15884e-41 1 1 0 EI24 9538 broad.mit.edu 37 11 125453541 125453541 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:125453541C>T ENST00000278903.6 + 12 1225 c.983C>T c.(982-984)cCg>cTg p.P328L EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 329 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TCACCGCATCCGTCGCCTGCC 0.547000 14 9 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196730857 196730857 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:196730857T>C ENST00000296350.5 - 15 2165 c.2052A>G c.(2050-2052)ggA>ggG p.G684G MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 684 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) TGGTTTTCTCTCCGACAGGCA 0.607000 184 242 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39441204 39441204 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:39441204G>A ENST00000308521.5 + 3 787 c.430G>A c.(430-432)Gtg>Atg p.V144M APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 149 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) AGGGGCCCGCGTGAAGATTAT 0.597000 36 51 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483294 12483294 + Silent SNP C C T rs146158847 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:12483294C>T ENST00000535902.1 - 4 1526 c.963G>A c.(961-963)ccG>ccA p.P321P MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P Q9H8J5 MANS1_HUMAN MANSC domain containing 1 321 Thr-rich. integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TTTCTGTAAACGGTATGGTTT 0.458000 44 87 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57918264 57918264 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:57918264C>T ENST00000564448.1 - 33 3602 c.3542G>A c.(3541-3543)cGg>cAg p.R1181Q CNGB1_ENST00000251102.8_Missense_Mutation_p.R1187Q Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1187 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGGGGGCGTCCGGGGCGCGGG 0.741000 19 35 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382167 124382167 + Missense_Mutation SNP A A T rs149531312 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:124382167A>T ENST00000287394.5 - 7 932 c.825T>A c.(823-825)gaT>gaA p.D275E ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 275 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) cttcatcatcatcatcatcat 0.378000 17 18 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898136 104898136 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:104898136A>G ENST00000507740.1 + 2 969 c.733A>G c.(733-735)Agg>Ggg p.R245G RIMS2_ENST00000436393.2_Missense_Mutation_p.R215G|RIMS2_ENST00000262231.10_Missense_Mutation_p.R245G|RIMS2_ENST00000406091.3_Missense_Mutation_p.R437G NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 468 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCCTACCCCCAGGAGGAGTCC 0.468000 HNSCC(12;0.0054) 12 110 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179107816 179107816 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:179107816C>T ENST00000471841.1 + 17 2163 c.2037C>T c.(2035-2037)cgC>cgT p.R679R MFN1_ENST00000263969.5_Silent_p.R679R|MFN1_ENST00000280653.7_Silent_p.R568R NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 679 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTTTTGCTCGCCTGTGCCAAC 0.299000 10 17 0 0 1 0 0 TSTD2 158427 broad.mit.edu 37 9 100367047 100367047 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:100367047T>C ENST00000341170.4 - 9 1596 c.1214A>G c.(1213-1215)gAa>gGa p.E405G TSTD2_ENST00000375172.2_Missense_Mutation_p.E179G|TSTD2_ENST00000354801.2_Missense_Mutation_p.E145G|TSTD2_ENST00000375165.1_Missense_Mutation_p.E145G NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 405 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 AGCATAGCGTTCATCAAAAAC 0.468000 49 66 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35424067 35424067 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:35424067C>T ENST00000229769.2 + 2 977 c.792C>T c.(790-792)gaC>gaT p.D264D NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 264 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 CTGGCGAGGACGGTTCGAATC 0.498000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 94 222 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93106930 93106930 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:93106930G>A ENST00000359558.2 - 6 609 c.310C>T c.(310-312)Ccg>Tcg p.P104S CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 86 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ACTCCAGCCGGTGTGTCATCC 0.418000 25 32 0 0 1 0 0 PRNP 5621 broad.mit.edu 37 20 4680506 4680506 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:4680506T>G ENST00000379440.4 + 2 927 c.640T>G c.(640-642)Tgt>Ggt p.C214G PRNP_ENST00000430350.2_Missense_Mutation_p.C214G NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 214 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGAGCAGATGTGTATCACCCA 0.522000 67 36 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47856557 47856557 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:47856557C>A ENST00000328771.4 + 2 619 c.270C>A c.(268-270)atC>atA p.I90I NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 90 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCACAGCATCCCAGCGCTGG 0.587000 54 105 6.176e-18 6.71171e-18 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112621993 112621993 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:112621993C>T ENST00000550722.1 - 61 10734 c.10339G>A c.(10339-10341)Gag>Aag p.E3447K HECTD4_ENST00000430131.2_Missense_Mutation_p.E3171K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3421K NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTGTTACCTCCACGACTGCG 0.527000 121 165 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36574054 36574054 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:36574054A>G ENST00000401500.2 + 11 1496 c.1461A>G c.(1459-1461)acA>acG p.T487T WDR62_ENST00000270301.7_Silent_p.T487T NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 487 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGAATGGGACACCCATGGACG 0.602000 4 14 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141286 21141286 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:21141286C>T ENST00000380229.2 - 1 858 c.284G>A c.(283-285)cGc>cAc p.R95H NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 95 R -> S (in dbSNP:rs2230055). cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGCAGAGGAGCGCTCTGTGTG 0.557000 42 64 0 0 1 0 0 GNB1L 0 broad.mit.edu 37 22 19776481 19776481 + Silent SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:19776481C>G ENST00000329517.6 - 8 971 c.735G>C c.(733-735)gtG>gtC p.V245V GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Silent_p.V245V NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 245 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) GAGTCCCACGCACCTGTGAGA 0.642000 26 58 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113729502 113729502 + Splice_Site SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:113729502C>T ENST00000397030.1 + 11 1443 c.1407_splice c.e11+1 p.T469_splice MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice|MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 466 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CGCCTGGAGACGGTAGGCCGA 0.687000 11 14 0 0 1 0 0 NTN3 4917 broad.mit.edu 37 16 2522735 2522735 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:2522735G>A ENST00000293973.1 + 2 1165 c.962G>A c.(961-963)cGc>cAc p.R321H NM_006181.2 NP_006172.1 O00634 NET3_HUMAN netrin 3 321 Laminin EGF-like 2. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix breast(1)|central_nervous_system(2)|lung(3)|prostate(1) 7 CGCCGCTGCCGCTTCAACATG 0.692000 61 85 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134252969 134252969 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:134252969C>T ENST00000457545.2 + 4 470 c.210C>T c.(208-210)caC>caT p.H70H AKR1B15_ENST00000423958.1_Silent_p.H42H NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 70 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 AATATCGCCACATTGACTGTG 0.453000 40 52 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877512 27877512 + Missense_Mutation SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:27877512C>G ENST00000374011.2 - 6 2083 c.1115G>C c.(1114-1116)gGc>gCc p.G372A AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.G372A NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 372 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CCCGGGGGGGCCGTGCGGTGA 0.697000 11 15 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10078753 10078753 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:10078753A>G ENST00000264828.3 - 60 4402 c.4317T>C c.(4315-4317)ggT>ggC p.G1439G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1439 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GACCAGGGGGACCCTAGGAAA 0.582000 37 52 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46724534 46724534 + Splice_Site SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:46724534C>T ENST00000311764.2 + 4 623 c.392_splice c.e4-1 p.S131_splice NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGCTTTGCAGCTTGGTACAAC 0.577000 30 39 0 0 1 0 0 TOB2 10766 broad.mit.edu 37 22 41833282 41833282 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:41833282C>T ENST00000327492.3 - 2 774 c.68G>A c.(67-69)cGc>cAc p.R23H NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 23 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GTCTGCCCGGCGCCGGGGCAG 0.542000 39 38 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128471558 128471558 + Silent SNP C C T rs151283651 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:128471558C>T ENST00000322313.4 - 18 3065 c.2907G>A c.(2905-2907)ccG>ccA p.P969P NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 969 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCTCTGACATCGGGCCCATGT 0.612000 14 39 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48047159 48047159 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:48047159T>C ENST00000311798.1 - 8 650 c.598A>G c.(598-600)Agg>Ggg p.R200G SSX5_ENST00000347757.1_Missense_Mutation_p.R159G|SSX5_ENST00000376923.1_Missense_Mutation_p.R159G NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TGTTTCCCCCTTTTGGGTCCT 0.478000 129 202 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335435 20335435 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:20335435C>T ENST00000302555.5 - 3 387 c.238G>A c.(238-240)Gca>Aca p.A80T GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.A80T P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 80 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGGGACCCTGCTGAGTTCTCT 0.572000 37 45 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9763352 9763352 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:9763352A>G ENST00000262441.5 + 7 1372 c.859A>G c.(859-861)Acg>Gcg p.T287A GLP2R_ENST00000574745.1_Missense_Mutation_p.T107A NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 287 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CTACCTCCACACGCTGCTGGA 0.572000 11 25 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58476445 58476445 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:58476445A>T ENST00000340635.6 - 5 959 c.784T>A c.(784-786)Tcc>Acc p.S262T PDE4D_ENST00000546160.1_Missense_Mutation_p.S201T|PDE4D_ENST00000507116.1_Missense_Mutation_p.S198T|PDE4D_ENST00000405755.2_Missense_Mutation_p.S140T|PDE4D_ENST00000360047.5_Missense_Mutation_p.S126T|PDE4D_ENST00000502575.1_Missense_Mutation_p.S198T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000503258.1_Missense_Mutation_p.S132T|PDE4D_ENST00000502484.2_Missense_Mutation_p.S201T NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 262 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TTGTTGATGGATGGTTGGTTG 0.398000 11 19 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63525089 63525089 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:63525089T>G ENST00000536984.2 + 8 1967 c.1273T>G c.(1273-1275)Ttc>Gtc p.F425V CDH7_ENST00000397968.2_Missense_Mutation_p.F425V|CDH7_ENST00000323011.3_Missense_Mutation_p.F425V Q9ULB5 CADH7_HUMAN cadherin 7, type 2 425 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GGAGAGATACTTCAATATTGA 0.388000 5 109 0 0 1 0 0 SCRN3 79634 broad.mit.edu 37 2 175292598 175292598 + Missense_Mutation SNP A A G rs76634317 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:175292598A>G ENST00000272732.6 + 8 1332 c.1250A>G c.(1249-1251)aAt>aGt p.N417S SCRN3_ENST00000409673.3_Missense_Mutation_p.N410S|SCRN3_ENST00000548921.1_3'UTR NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 417 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) TATCAGTCAAATTTATCAGTC 0.323000 13 21 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24905856 24905856 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:24905856G>T ENST00000405141.1 + 9 1102 c.391G>T c.(391-393)Ggg>Tgg p.G131W NCOA1_ENST00000348332.3_Missense_Mutation_p.G131W|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000406961.1_Missense_Mutation_p.G131W|NCOA1_ENST00000288599.5_Missense_Mutation_p.G131W|NCOA1_ENST00000538539.1_Missense_Mutation_p.G131W|NCOA1_ENST00000395856.3_Missense_Mutation_p.G131W Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 131 PAS. p.G131W(1) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACTGTGAAGGGAGAATTGT 0.368000 T PAX3 alveolar rhadomyosarcoma 18 41 2.37509e-13 2.54019e-13 1 1 0 FGFR2 2263 broad.mit.edu 37 10 123325123 123325123 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:123325123C>T ENST00000358487.5 - 3 477 c.205G>A c.(205-207)Gtg>Atg p.V69M FGFR2_ENST00000369056.1_Missense_Mutation_p.V69M|FGFR2_ENST00000369061.4_Missense_Mutation_p.V69M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V69M|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.V69M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.V69M|FGFR2_ENST00000346997.2_Missense_Mutation_p.V69M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.V69M NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 69 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CAACTGATCACGGCGGCATCT 0.552000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 81 157 0 0 1 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75388084 75388084 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:75388084G>A ENST00000555647.1 - 3 448 c.161C>T c.(160-162)gCc>gTc p.A54V RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54V|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54V|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54V Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 54 ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GATCTGCGTGGCCGCATCCAC 0.592000 36 65 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837242 43837242 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:43837242A>G ENST00000372781.3 + 2 1361 c.1304A>G c.(1303-1305)gAt>gGt p.D435G SEMG1_ENST00000244069.6_Missense_Mutation_p.D375G NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) GGGGGATTGGATATTGTAATT 0.403000 121 90 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76624710 76624710 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:76624710T>C ENST00000369981.3 + 35 4121 c.3842T>C c.(3841-3843)cTg>cCg p.L1281P MYO6_ENST00000369985.4_Missense_Mutation_p.L1257P|MYO6_ENST00000369975.1_Missense_Mutation_p.L1248P|MYO6_ENST00000369977.3_Missense_Mutation_p.L1280P Q9UM54 MYO6_HUMAN myosin VI 1289 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) ACAGCCATGCTGCAGAGTCTG 0.512000 22 13 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74469406 74469406 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:74469406A>G ENST00000591885.1 - 16 2287 c.1737T>C c.(1735-1737)tgT>tgC p.C579C RHBDF2_ENST00000389760.4_Silent_p.C579C|RHBDF2_ENST00000313080.4_Silent_p.C608C Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 608 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 TGGTGATCTCACAGCTAAGGG 0.597000 17 13 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316673 40316673 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:40316673C>T ENST00000593685.1 - 11 2040 c.1572G>A c.(1570-1572)aaG>aaA p.K524K DYRK1B_ENST00000430012.2_Silent_p.K484K|DYRK1B_ENST00000597639.1_Silent_p.K496K|DYRK1B_ENST00000348817.3_Silent_p.K496K|DYRK1B_ENST00000323039.5_Silent_p.K524K Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 524 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CTTGATGTGTCTTGTGGGGCA 0.642000 29 51 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 59 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937225 33937225 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:33937225C>T ENST00000330120.3 + 1 735 c.380C>T c.(379-381)aCg>aTg p.T127M NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 127 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CTGGCGCTGACGGACTTTCAG 0.572000 54 89 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242036781 242036781 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:242036781A>G ENST00000391980.2 - 3 640 c.582T>C c.(580-582)atT>atC p.I194I MTERFD2_ENST00000407095.3_Silent_p.I194I|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.I6I NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 194 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) CAGTGTCGTTAATGTCCTGCT 0.463000 23 26 0 0 1 0 0 PNMA2 10687 broad.mit.edu 37 8 26365217 26365217 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:26365217C>T ENST00000522362.2 - 3 1949 c.1055G>A c.(1054-1056)cGa>cAa p.R352Q NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 352 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) ATAGCCATCTCGTTCCTCTGG 0.522000 55 212 0 0 1 0 0 DOLK 22845 broad.mit.edu 37 9 131709514 131709514 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:131709514C>A ENST00000372586.3 - 1 384 c.69G>T c.(67-69)gaG>gaT p.E23D RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 23 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 CTACTGCCGCCTCTGCCAGCA 0.662000 52 50 4.33383e-22 4.80502e-22 1 1 0 FAM66D 0 broad.mit.edu 37 8 11985834 11985834 + RNA SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:11985834G>A ENST00000434078.2 + 0 608 NR_027425.1 ACCCGGTGACGACGAGAACAG 0.483000 6 51 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058095 79058095 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:79058095G>A ENST00000388820.4 - 19 4368 c.4158C>T c.(4156-4158)caC>caT p.H1386H NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1386 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CAGGGACTCTGTGGCTGTTGG 0.682000 42 61 0 0 1 0 0 KHSRP 8570 broad.mit.edu 37 19 6417016 6417016 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:6417016G>A ENST00000398148.3 - 12 1256 c.1164C>T c.(1162-1164)gaC>gaT p.D388D NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 388 Gly-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 TCTGGAGGAGGTCGTTGATGA 0.642000 9 103 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69472531 69472531 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:69472531C>T ENST00000303714.4 + 18 1931 c.1609C>T c.(1609-1611)Cct>Tct p.P537S NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 537 Pro-rich. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 cccgtccccaccttccaccct 0.706000 Familial Infantile Hemangioma 3 6 0 0 1 0 0 IGKV4-1 0 broad.mit.edu 37 2 89185510 89185510 + RNA SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:89185510G>A ENST00000390243.2 + 0 379 AACCAGGACAGCCTCCTAAGC 0.532000 28 30 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28387443 28387443 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:28387443A>G ENST00000261609.7 - 76 11749 c.11641T>C c.(11641-11643)Tcc>Ccc p.S3881P NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3881 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAACACGGGAGGCCATGCAG 0.527000 19 28 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351302 121351302 + Missense_Mutation SNP C C T rs149387044 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:121351302C>T ENST00000314583.3 - 12 1208 c.1117G>A c.(1117-1119)Gag>Aag p.E373K HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.E336K NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 373 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TTctcaggctcgggctcaggc 0.607000 102 144 0 0 1 0 0 CETN2 1069 broad.mit.edu 37 X 151997817 151997817 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:151997817G>A ENST00000370277.3 - 3 233 c.167C>T c.(166-168)gCa>gTa p.A56V CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 56 EF-hand 1. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGCCCTCATTGCCACCTATAA 0.393000 Direct reversal of damage;Nucleotide excision repair (NER) 15 41 0 0 1 0 0 FZD3 7976 broad.mit.edu 37 8 28384902 28384902 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:28384902A>G ENST00000240093.3 + 5 1103 c.625A>G c.(625-627)Att>Gtt p.I209V FZD3_ENST00000537916.1_Missense_Mutation_p.I209V NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 209 canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) CATAGGATTGATTTCAATCAT 0.363000 34 155 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13399755 13399755 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:13399755C>T ENST00000254508.5 - 16 2377 c.2295G>A c.(2293-2295)atG>atA p.M765I NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 765 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GCGGACAGGACATGTCCAGCT 0.657000 30 99 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281526 152281526 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:152281526C>T ENST00000368799.1 - 3 5871 c.5836G>A c.(5836-5838)Gct>Act p.A1946T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1946 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCCCAAGCAGATCCAAGA 0.567000 Ichthyosis 173 304 0 0 1 0 0 SLC39A9 55334 broad.mit.edu 37 14 69925096 69925096 + Missense_Mutation SNP T T A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:69925096T>A ENST00000031146.4 + 6 1190 c.512T>A c.(511-513)cTt>cAt p.L171H SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.L237H|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L214H Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 237 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) AAAGAAGCCCTTTCAGAGGTG 0.468000 90 87 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79552204 79552204 + Silent SNP C C T rs148200124 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:79552204C>T ENST00000372391.2 - 32 5759 c.5754G>A c.(5752-5754)ccG>ccA p.P1918P RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Silent_p.P1578P NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1918 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TCTCCTAGAGCGGGCAGGCTG 0.532000 69 148 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826815 143826815 + Missense_Mutation SNP T T A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:143826815T>A ENST00000408899.2 + 1 665 c.610T>A c.(610-612)Ttc>Atc p.F204I NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) AGCCTGCGTGTTCATCCTGGT 0.567000 121 139 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75182877 75182877 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:75182877C>T ENST00000336926.6 - 22 2196 c.2170G>A c.(2170-2172)Gcc>Acc p.A724T HIP1_ENST00000434438.2_Missense_Mutation_p.A724T NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 724 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGCTTACAGGCCTCGGTCAGT 0.562000 T PDGFRB CMML 23 38 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39383336 39383336 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:39383336T>C ENST00000320816.6 - 10 1192 c.725A>G c.(724-726)gAa>gGa p.E242G DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.E221G|DAB2_ENST00000509337.1_Missense_Mutation_p.E221G NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 242 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGTGTCGATTTCAGAGTTTAG 0.383000 49 70 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186953726 186953726 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:186953726C>T ENST00000296280.6 - 11 2158 c.1933G>A c.(1933-1935)Gag>Aag p.E645K MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 627 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AACATGTTCTCCGTGACGCTG 0.547000 23 34 0 0 1 0 0 GPRC5A 0 broad.mit.edu 37 12 13061187 13061187 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:13061187G>A ENST00000014914.5 + 2 894 c.4G>A c.(4-6)Gct>Act p.A2T GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 2 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GTCCAGAATGGCTACAACAGT 0.473000 23 25 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149509511 149509511 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:149509511G>A ENST00000261799.4 - 10 1857 c.1388C>T c.(1387-1389)cCc>cTc p.P463L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 463 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CAGCAGCGTGGGCGGCAGCTC 0.612000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 90 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110384778 110384778 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:110384778G>A ENST00000265175.5 + 2 910 c.855G>A c.(853-855)gcG>gcA p.A285A SEC24B_ENST00000399100.2_Silent_p.A285A|SEC24B_ENST00000504968.2_Silent_p.A316A NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 285 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGGCTGTAGCGAACAACAACC 0.413000 30 57 0 0 1 0 0 PRADC1 84279 broad.mit.edu 37 2 73455661 73455661 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:73455661C>A ENST00000258083.2 - 5 555 c.488G>T c.(487-489)tGg>tTg p.W163L PRADC1_ENST00000480093.1_5'UTR NM_032319.1 NP_115695.1 Q9BSG0 PADC1_HUMAN protease-associated domain containing 1 163 PA. extracellular region endometrium(1)|large_intestine(1)|lung(2) 4 AATGATGGCCCATGGCAGCCC 0.562000 20 30 1.28384e-07 1.3388e-07 1 1 0 DMRTC2 63946 broad.mit.edu 37 19 42351810 42351810 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:42351810C>T ENST00000269945.3 + 3 282 c.231C>T c.(229-231)cgC>cgT p.R77R DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.R77R NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 77 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TTAGGGAGCGCCGCAGGGTCA 0.602000 13 26 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53517031 53517031 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:53517031C>T ENST00000370905.3 - 3 1410 c.1270G>A c.(1270-1272)Gcg>Acg p.A424T KLHL31_ENST00000407079.1_Missense_Mutation_p.A424T NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CGGCCGCCCGCGGCGTACACG 0.647000 41 109 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650983 94650983 + Missense_Mutation SNP G G C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:94650983G>C ENST00000260526.6 - 17 2017 c.1835C>G c.(1834-1836)aCa>aGa p.T612R ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 612 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.T612I(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AAACTTGTGTGTGAGAGCTGC 0.373000 24 37 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26527326 26527326 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:26527326C>T ENST00000456354.2 + 8 1060 c.993C>T c.(991-993)ggC>ggT p.G331G NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 331 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CCCAGACAGGCGCAGAGGAAG 0.627000 25 51 0 0 1 0 0 MBOAT7 79143 broad.mit.edu 37 19 54684567 54684567 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:54684567G>A ENST00000245615.1 - 6 1257 c.777C>T c.(775-777)gcC>gcT p.A259A MBOAT7_ENST00000338624.6_Silent_p.A186A|MBOAT7_ENST00000391754.1_Silent_p.A259A|MBOAT7_ENST00000431666.2_Silent_p.A186A NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 259 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCCAAAGCCGGCGGCAATGC 0.711000 OREG0003644 type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 8 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566315 136566315 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:136566315G>A ENST00000264162.2 - 8 3612 c.3602C>T c.(3601-3603)gCc>gTc p.A1201V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1201 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAAGACGTCGGCCGTCGCCCT 0.557000 96 115 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6478961 6478961 + Silent SNP C C T rs116462813 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:6478961C>T ENST00000525074.1 - 4 874 c.480G>A c.(478-480)gcG>gcA p.A160A TRIM3_ENST00000536344.1_Silent_p.A41A|TRIM3_ENST00000537602.1_Silent_p.A160A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A160A|TRIM3_ENST00000359518.3_Silent_p.A160A NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 160 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCAGGGCCGCCTTGTGCT 0.687000 39 61 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55497518 55497518 + Splice_Site SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:55497518G>T ENST00000543010.1 + 8 2344 c.e8-1 NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTTTTCCCTAGGTTCAAAAAC 0.423000 15 27 1.05317e-09 1.1155e-09 1 1 0 CHODL 140578 broad.mit.edu 37 21 19629084 19629084 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:19629084G>A ENST00000299295.2 + 2 729 c.338G>A c.(337-339)gGt>gAt p.G113D CHODL_ENST00000400127.1_Missense_Mutation_p.G72D|CHODL_ENST00000400131.1_Missense_Mutation_p.G72D|CHODL_ENST00000400135.1_Missense_Mutation_p.G72D|CHODL_ENST00000543733.1_Missense_Mutation_p.G94D|CHODL_ENST00000338326.3_Missense_Mutation_p.G72D|CHODL_ENST00000400128.1_Missense_Mutation_p.G72D NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 113 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CAAACATCTGGTGCCTGCCCA 0.507000 45 61 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786408 112786408 + Silent SNP C C T rs140956730 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:112786408C>T ENST00000295408.4 + 19 3224 c.2967C>T c.(2965-2967)gaC>gaT p.D989D MERTK_ENST00000409780.1_Silent_p.D813D|MERTK_ENST00000421804.2_Silent_p.D989D Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 989 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TGTTTGCTGACGACTCCTCAG 0.502000 25 29 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135119889 135119889 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:135119889G>A ENST00000409645.1 + 11 1542 c.1290G>A c.(1288-1290)caG>caA p.Q430Q MGAT5_ENST00000281923.2_Silent_p.Q430Q Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 430 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TGGTTGAGCAGCACCTGAACT 0.458000 86 119 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24860369 24860369 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:24860369C>T ENST00000424834.2 + 8 2792 c.2319C>T c.(2317-2319)aaC>aaT p.N773N SPATA13_ENST00000382095.4_Silent_p.N148N|SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000343003.6_Silent_p.N92N Q96N96 SPT13_HUMAN spermatogenesis associated 13 148 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GTGATGGCAACGTGGTCTGCG 0.587000 57 81 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134381807 134381807 + Translation_Start_Site SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:134381807G>A ENST00000404875.2 + 0 190 POMT1_ENST00000419118.2_De_novo_Start_OutOfFrame|POMT1_ENST00000402686.3_Missense_Mutation_p.D83N|POMT1_ENST00000372228.3_Missense_Mutation_p.D83N|POMT1_ENST00000354713.4_Missense_Mutation_p.R47Q|POMT1_ENST00000341012.7_Missense_Mutation_p.D29N|POMT1_ENST00000541219.1_De_novo_Start_InFrame|POMT1_ENST00000423007.1_Missense_Mutation_p.D83N NM_001136114.1 NP_001129586.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AGGAGGATTCGATGGCAATTT 0.348000 83 122 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99145154 99145154 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:99145154G>A ENST00000547776.2 - 25 3650 c.3651C>T c.(3649-3651)cgC>cgT p.R1217R ANKS1B_ENST00000550693.2_Silent_p.R407R|ANKS1B_ENST00000549493.2_Silent_p.R467R|ANKS1B_ENST00000547446.1_Silent_p.R352R|ANKS1B_ENST00000549025.2_Silent_p.R315R|ANKS1B_ENST00000341752.7_Silent_p.R223R|ANKS1B_ENST00000549558.2_Silent_p.R383R|ANKS1B_ENST00000329257.7_Silent_p.R1217R|ANKS1B_ENST00000547010.1_Silent_p.R733R|ANKS1B_ENST00000333732.7_Silent_p.R247R|ANKS1B_ENST00000546568.1_Silent_p.R383R|ANKS1B_ENST00000546960.1_Silent_p.R443R|ANKS1B_ENST00000332712.7_Silent_p.R407R NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 1217 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAATGCTAACGCGGGGCTTGG 0.498000 18 32 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215853543 215853543 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:215853543C>T ENST00000366943.2 - 62 12628 c.12242G>A c.(12241-12243)cGg>cAg p.R4081Q USH2A_ENST00000307340.3_Missense_Mutation_p.R4081Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4081 Fibronectin type-III 26. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGCAATGCCCGGCCATTCTC 0.408000 HNSCC(13;0.011) 47 74 0 0 1 0 0 S1PR2 9294 broad.mit.edu 37 19 10335188 10335188 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:10335188C>T ENST00000590320.1 - 2 504 c.394G>A c.(394-396)Gtg>Atg p.V132M NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 132 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCAATGGCCACGTGGCGCTCA 0.637000 29 43 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48802450 48802450 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:48802450C>T ENST00000265563.8 - 8 1109 c.860G>A c.(859-861)cGc>cAc p.R287H PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R287H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R287H NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 287 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) AGTGATTATGCGTTCTCCATC 0.408000 12 22 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088332 39088332 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:39088332A>T ENST00000295373.6 - 5 1346 c.1220T>A c.(1219-1221)gTc>gAc p.V407D DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 407 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGAATATACGACAGGTTCCGA 0.403000 53 69 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22035142 22035142 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:22035142T>C ENST00000354870.5 + 6 1059 c.793T>C c.(793-795)Tgt>Cgt p.C265R BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000306349.8_Intron P13497 BMP1_HUMAN bone morphogenetic protein 1 0 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TTCCTTCCCATGTTCCCTTGA 0.612000 138 326 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43451501 43451501 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:43451501C>T ENST00000282388.3 - 2 1735 c.1442G>A c.(1441-1443)cGc>cAc p.R481H THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 481 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) TGGCAGGCGGCGGCCAGGGTC 0.667000 7 9 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627119 43627119 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:43627119G>A ENST00000332857.6 - 4 1596 c.1568C>T c.(1567-1569)gCa>gTa p.A523V NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 ATTCTGCGATGCAGGGCAAGC 0.502000 150 208 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18364029 18364029 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:18364029A>T ENST00000429452.1 - 17 2634 c.2282T>A c.(2281-2283)gTg>gAg p.V761E MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.V761E|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron NM_001136004.1 NP_001129476.1 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1248 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CAGGGTGATCACTTTTTTGGG 0.542000 81 98 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120850597 120850597 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:120850597C>T ENST00000313655.4 - 8 1189 c.975G>A c.(973-975)ctG>ctA p.L325L NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 325 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATCTACTTTCAGCAAAAATA 0.368000 45 150 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151123932 151123932 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:151123932C>T ENST00000370325.1 - 8 1098 c.1045G>A c.(1045-1047)Gtc>Atc p.V349I GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.V349I P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 349 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AAGCAGAAGACGAAGCAGATG 0.488000 57 60 0 0 1 0 0 C7orf25 79020 broad.mit.edu 37 7 42949408 42949408 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:42949408C>T ENST00000350427.4 - 2 1367 c.1092G>A c.(1090-1092)acG>acA p.T364T C7orf25_ENST00000447342.1_Silent_p.T364T|C7orf25_ENST00000431882.2_Silent_p.T422T|C7orf25_ENST00000438029.1_Silent_p.T364T|PSMA2_ENST00000442788.1_3'UTR Q9BPX7 CG025_HUMAN chromosome 7 open reading frame 25 364 endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 GGGTGTCTCCCGTCCCAAAAA 0.433000 41 37 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8448900 8448900 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:8448900C>T ENST00000360416.3 - 13 1435 c.1297G>A c.(1297-1299)Gca>Aca p.A433T MYH10_ENST00000379980.4_Missense_Mutation_p.A439T|MYH10_ENST00000396239.1_Missense_Mutation_p.A423T|MYH10_ENST00000269243.4_Missense_Mutation_p.A423T NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 423 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGCCAATGCTTCTACTGCA 0.398000 20 26 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109493059 109493059 + Translation_Start_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:109493059T>C ENST00000356970.2 - 2 108 c.1A>G c.(1-3)Atg>Gtg p.M1V CLCC1_ENST00000415331.1_Start_Codon_SNP_p.M1V|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369971.2_Splice_Site_p.M1_splice|CLCC1_ENST00000348264.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000302500.4_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369976.1_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369968.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369969.2_Start_Codon_SNP_p.M1V Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 1 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) GAACACAGCATCCTGTATAAG 0.299000 14 18 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122289431 122289431 + Missense_Mutation SNP G G A rs142707005 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:122289431G>A ENST00000296161.4 + 4 2254 c.2065G>A c.(2065-2067)Gtg>Atg p.V689M DTX3L_ENST00000383661.3_Missense_Mutation_p.V177M NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 689 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GATTTTTACAGTGGGGTACTC 0.433000 34 57 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39883622 39883622 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:39883622C>T ENST00000341184.6 + 2 485 c.270C>T c.(268-270)gcC>gcT p.A90A NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 90 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GCAAGGCGGCCGAGGAGCTCC 0.701000 36 57 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35105812 35105812 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:35105812C>T ENST00000378561.1 - 7 4385 c.1330G>A c.(1330-1332)Gtg>Atg p.V444M FAM214B_ENST00000488109.2_Missense_Mutation_p.V444M|FAM214B_ENST00000378566.1_Missense_Mutation_p.V139M|FAM214B_ENST00000603301.1_Missense_Mutation_p.V444M|FAM214B_ENST00000322813.5_Missense_Mutation_p.V444M|FAM214B_ENST00000605244.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378557.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378554.2_Intron Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 444 nucleus TCAAAGGTCACAAGGAACATC 0.547000 24 42 0 0 1 0 0 GSR 2936 broad.mit.edu 37 8 30560725 30560725 + Silent SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:30560725G>T ENST00000221130.5 - 5 615 c.525C>A c.(523-525)gcC>gcA p.A175A GSR_ENST00000546342.1_Silent_p.A175A|GSR_ENST00000541648.1_Silent_p.A175A|GSR_ENST00000537535.1_Silent_p.A175A|GSR_ENST00000414019.1_Silent_p.A132A NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 175 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) CACTCGTGAAGGCTGCATGGC 0.483000 13 198 4.3838e-07 4.56061e-07 1 1 0 C16orf59 80178 broad.mit.edu 37 16 2511156 2511156 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:2511156T>G ENST00000569496.1 + 4 595 c.536T>G c.(535-537)cTc>cGc p.L179R C16orf59_ENST00000361837.4_Missense_Mutation_p.L179R|C16orf59_ENST00000563531.1_Missense_Mutation_p.L179R|C16orf59_ENST00000483320.1_Missense_Mutation_p.L12R Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 179 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) GGGGCGGGCCTCAGGGACCAG 0.677000 14 24 0 0 1 0 0 RAC3 5881 broad.mit.edu 37 17 79991680 79991680 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:79991680C>T ENST00000306897.4 + 6 692 c.554C>T c.(553-555)cCg>cTg p.P185L NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 185 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GTGAAGAAGCCGGGGAAGAAG 0.652000 17 7 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490215 150490215 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:150490215C>T ENST00000447204.2 - 5 933 c.561G>A c.(559-561)tgG>tgA p.W187* TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.W150* NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 187 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCCTTCTGCCATTGGTTCT 0.527000 27 58 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5204938 5204938 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:5204938C>T ENST00000334314.3 - 2 215 c.139G>A c.(139-141)Gta>Ata p.V47I aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CGGAAGCCTACGTCAATAGCC 0.473000 72 81 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864220 153864220 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:153864220T>G ENST00000511601.1 + 2 199 c.11T>G c.(10-12)aTg>aGg p.M4R FHDC1_ENST00000260008.3_Missense_Mutation_p.M4R Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 4 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) ATGCATGTTATGAATTGTGTC 0.448000 37 32 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67650654 67650654 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:67650654G>A ENST00000264010.4 + 5 1403 c.959G>A c.(958-960)cGt>cAt p.R320H CTCF_ENST00000401394.1_5'UTR NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 320 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CTAGGTACTCGTCCTCACAAG 0.488000 104 124 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135702409 135702409 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:135702409C>T ENST00000298545.3 - 8 1110 c.589G>A c.(589-591)Gaa>Aaa p.E197K AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 197 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.E197K(2) NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 ATTTCAGATTCGGGTGGCCAG 0.542000 105 145 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12334194 12334194 + Missense_Mutation SNP G G A rs148238873 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:12334194G>A ENST00000261349.4 - 6 1232 c.1156C>T c.(1156-1158)Cgt>Tgt p.R386C LRP6_ENST00000543091.1_Missense_Mutation_p.R386C NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 386 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) ATAAATGAACGGCGTATGGCC 0.463000 65 94 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802764 31802764 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:31802764G>T ENST00000334068.2 + 1 193 c.171G>T c.(169-171)gaG>gaT p.E57D NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 57 4 X 10 AA approximate repeats. intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 CCTGCTGGGAGCCCGCCAGCT 0.617000 40 38 1.96642e-18 2.15299e-18 1 1 0 MC2R 0 broad.mit.edu 37 18 13885199 13885199 + Missense_Mutation SNP C C T rs104894661 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:13885199C>T ENST00000327606.3 - 2 499 c.319G>A c.(319-321)Gac>Aac p.D107N NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 107 D -> N (in GCCD1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AACAGGGAGTCGATGATGTCA 0.498000 21 38 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152960290 152960290 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:152960290C>T ENST00000253122.5 + 12 2189 c.1713C>T c.(1711-1713)tgC>tgT p.C571C SLC6A8_ENST00000430077.2_Silent_p.C456C|SLC6A8_ENST00000485324.1_3'UTR NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 571 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) CCATGCTGTGCGTGCCGCTGC 0.662000 11 19 0 0 1 0 0 SLC16A10 117247 broad.mit.edu 37 6 111409147 111409147 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:111409147C>T ENST00000368851.5 + 1 367 c.192C>T c.(190-192)ccC>ccT p.P64P NM_018593.4 NP_061063.2 Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 64 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) CCCCCGAACCCCCCGAGGGCG 0.731000 16 35 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499635 18499635 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:18499635A>G ENST00000433979.1 + 11 1606 c.1490A>G c.(1489-1491)tAc>tGc p.Y497C PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Y497C NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 497 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATCAATGTCTACTGTAACAGC 0.423000 21 46 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29449848 29449848 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:29449848T>C ENST00000389048.3 - 18 3913 c.3007A>G c.(3007-3009)Aag>Gag p.K1003E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1003 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CAGATGACCTTGTGGCTTTCA 0.557000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 58 143 0 0 1 0 0 RFC5 5985 broad.mit.edu 37 12 118463610 118463610 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:118463610C>T ENST00000392542.2 + 8 1110 c.577C>T c.(577-579)Cgt>Tgt p.R193C RFC5_ENST00000229043.3_Missense_Mutation_p.R129C|RFC5_ENST00000454402.2_Missense_Mutation_p.R214C NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 214 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGAGACATGCGTAGGGCTCT 0.423000 38 55 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265997 1265997 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:1265997G>A ENST00000447027.1 + 31 7954 c.7896G>A c.(7894-7896)acG>acA p.T2632T MUC5B_ENST00000529681.1_Silent_p.T2629T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2629 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.T2608T(1)|p.T2629T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGCACGCACGCTTCCAGTGT 0.637000 57 79 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2282537 2282537 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:2282537C>T ENST00000301727.4 + 5 738 c.690C>T c.(688-690)cgC>cgT p.R230R E4F1_ENST00000564139.1_Silent_p.R230R|E4F1_ENST00000565090.1_Silent_p.R230R NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 230 Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCTCCTTCCGCACCAAGGGCT 0.692000 12 29 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41000844 41000844 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:41000844C>T ENST00000352632.3 + 6 714 c.628C>T c.(628-630)Cgg>Tgg p.R210W SPTBN4_ENST00000595535.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R210W Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 210 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCAGCTGGCGGGATGGCTT 0.582000 20 36 0 0 1 0 0 ZNF571 51276 broad.mit.edu 37 19 38056224 38056224 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:38056224C>A ENST00000328550.2 - 4 1205 c.1106G>T c.(1105-1107)gGg>gTg p.G369V ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589802.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAGGTCTTCCCGCATTCTTT 0.393000 15 30 2.31682e-05 2.37644e-05 1 1 0 KIAA0895L 653319 broad.mit.edu 37 16 67212216 67212216 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:67212216G>A ENST00000290881.7 - 6 1965 c.1039C>T c.(1039-1041)Cgc>Tgc p.R347C KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R192C|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R347C|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R347C Q68EN5 K895L_HUMAN KIAA0895-like 347 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 AAGGACATGCGCGCGGCGCGG 0.682000 13 8 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101437381 101437381 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:101437381A>G ENST00000392979.3 + 12 1475 c.1114A>G c.(1114-1116)Atg>Gtg p.M372V ANO4_ENST00000392977.3_Missense_Mutation_p.M407V|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 407 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTGTCCATTCATGAGGCTGTC 0.393000 HNSCC(74;0.22) 22 43 0 0 1 0 0 ARX 170302 broad.mit.edu 37 X 25031207 25031207 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:25031207G>T ENST00000379044.4 - 2 1115 c.905C>A c.(904-906)gCt>gAt p.A302D NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 302 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 CTTGCCCTCAGCGTCTTCCGG 0.697000 5 7 0.0215528 0.0217012 1 1 0 LAMA5 3911 broad.mit.edu 37 20 60927343 60927343 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:60927343G>A ENST00000252999.3 - 4 708 c.642C>T c.(640-642)atC>atT p.I214I LAMA5_ENST00000370692.3_Silent_p.I214I|LAMA5_ENST00000370677.3_Silent_p.I214I NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 214 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGTGGTGCAGATGGCCGCGT 0.697000 19 54 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45810891 45810891 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:45810891G>A ENST00000397928.1 + 10 1868 c.1423G>A c.(1423-1425)Gat>Aat p.D475N TRPM2_ENST00000300481.9_Missense_Mutation_p.D475N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D475N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.D475N NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 475 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GATCTTCATGGATGAGTGGCA 0.582000 58 57 0 0 1 0 0 HTRA4 203100 broad.mit.edu 37 8 38835513 38835513 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:38835513T>C ENST00000302495.4 + 4 913 c.813T>C c.(811-813)ctT>ctC p.L271L NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 271 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CATCTGACCTTCGGGCTGGAG 0.517000 52 168 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100045604 100045604 + Missense_Mutation SNP G G T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:100045604G>T ENST00000508393.1 - 10 1354 c.1189C>A c.(1189-1191)Ctc>Atc p.L397I RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.L378I|ADH4_ENST00000505590.1_Missense_Mutation_p.L397I|ADH4_ENST00000423445.1_Missense_Mutation_p.L397I P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 378 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) CAAAAGATGAGGATTGTTCGG 0.323000 3 8 0.00909568 0.00916886 1 1 0 NOTCH3 4854 broad.mit.edu 37 19 15295220 15295220 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:15295220C>T ENST00000263388.2 - 16 2527 c.2452G>A c.(2452-2454)Gca>Aca p.A818T NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 818 EGF-like 21; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.A818S(2) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCACAGGGTGCGGGGCCAGCA 0.612000 23 50 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832912 61832912 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:61832912C>A ENST00000280772.1 - 37 7918 c.7727G>T c.(7726-7728)aGg>aTg p.R2576M ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2576 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTGTCCACCCTATCTTCATA 0.423000 37 104 6.53348e-20 7.20737e-20 1 1 0 LRRC1 55227 broad.mit.edu 37 6 53787465 53787465 + Silent SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:53787465A>G ENST00000370888.1 + 14 1726 c.1449A>G c.(1447-1449)ccA>ccG p.P483P NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 483 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CTCCACACCCAGGGGAGTTAA 0.413000 76 217 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156526 70156526 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:70156526C>A ENST00000335568.5 + 5 1309 c.1307C>A c.(1306-1308)cCt>cAt p.P436H UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 436 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTAATGATCCTTCGTGAGTA 0.398000 48 68 4.86159e-25 5.41756e-25 1 1 0 CANT1 124583 broad.mit.edu 37 17 76989847 76989847 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:76989847C>T ENST00000302345.2 - 4 1485 c.991G>A c.(991-993)Gct>Act p.A331T CANT1_ENST00000591773.1_Missense_Mutation_p.A331T|CANT1_ENST00000392446.5_Missense_Mutation_p.A331T NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 331 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) TGGCTCACAGCGATGTCGCCG 0.657000 T ETV4 prostate 28 39 0 0 1 0 0 KLF16 83855 broad.mit.edu 37 19 1854672 1854672 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:1854672G>A ENST00000250916.4 - 2 615 c.545C>T c.(544-546)aCg>aTg p.T182M KLF16_ENST00000592313.1_5'UTR NM_031918.3 NP_114124.1 Q9BXK1 KLF16_HUMAN Kruppel-like factor 16 182 nucleus DNA binding|zinc ion binding lung(1) 1 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCTCGCCCGTGTGCGTCCG 0.687000 34 44 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62328274 62328274 + Missense_Mutation SNP T T A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:62328274T>A ENST00000318100.4 + 36 4888 c.4061T>A c.(4060-4062)gTg>gAg p.V1354E TNFRSF6B_ENST00000369996.1_Missense_Mutation_p.C52S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1354E Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GTGCGCCCAGTGCCCCCCAGG 0.701000 32 22 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133958682 133958682 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:133958682G>A ENST00000298622.4 + 11 1812 c.1674G>A c.(1672-1674)gcG>gcA p.A558A JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGCCCTGGCGGAGCAGGGGC 0.607000 11 29 0 0 1 0 0 GFOD2 81577 broad.mit.edu 37 16 67709560 67709560 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:67709560C>T ENST00000268797.7 - 3 1001 c.656G>A c.(655-657)aGc>aAc p.S219N GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 219 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GAAGTCATCGCTAGTGACGTG 0.577000 31 29 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12693029 12693029 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:12693029T>C ENST00000380682.1 + 5 974 c.e5+2 NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CCTTACCCTGTAAGTGTTCTG 0.393000 5 114 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095958 167095958 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:167095958C>A ENST00000361200.2 + 6 1756 c.1590C>A c.(1588-1590)ttC>ttA p.F530L DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.F530L|DUSP27_ENST00000271385.5_Missense_Mutation_p.F530L Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 530 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCAGTTCCTTCTACAACTTCT 0.542000 47 60 2.24722e-20 2.48213e-20 1 1 0 FGFR2 2263 broad.mit.edu 37 10 123279677 123279677 + Missense_Mutation SNP G G C rs121918498 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:123279677G>C ENST00000358487.5 - 7 1027 c.755C>G c.(754-756)tCg>tGg p.S252W FGFR2_ENST00000369056.1_Missense_Mutation_p.S252W|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.S137W|FGFR2_ENST00000478859.1_Missense_Mutation_p.S24W|FGFR2_ENST00000457416.2_Missense_Mutation_p.S252W|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000356226.4_Missense_Mutation_p.S137W|FGFR2_ENST00000360144.3_Missense_Mutation_p.S163W|FGFR2_ENST00000351936.6_Missense_Mutation_p.S252W|FGFR2_ENST00000346997.2_Missense_Mutation_p.S252W|FGFR2_ENST00000357555.5_Missense_Mutation_p.S163W|FGFR2_ENST00000369060.4_Missense_Mutation_p.S252W NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 252 S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|S -> W (in APRS and PS; common mutation).|SP -> FS (in PS). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.S252W(68)|p.S163W(13) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCGGTGAGGCGATCGCTCTGG 0.557000 S252W(MFE280_ENDOMETRIUM) 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 12 27 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138522791 138522791 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:138522791C>T ENST00000440172.1 - 20 5713 c.5665G>A c.(5665-5667)Ggc>Agc p.G1889S KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1905S|TMEM213_ENST00000413208.1_3'UTR|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1839S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1905 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AGCCCAGGGCCCTGCAGTCCC 0.622000 O BRAF pilocytic astrocytoma 13 11 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12214859 12214859 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:12214859C>T ENST00000491614.1 - 7 787 c.392G>A c.(391-393)tGt>tAt p.C131Y NUDT5_ENST00000537776.1_Missense_Mutation_p.C131Y|NUDT5_ENST00000378940.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378927.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378937.3_Missense_Mutation_p.C144Y|NUDT5_ENST00000378952.3_5'UTR Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 131 Nudix hydrolase. D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) TGGGTCCATACAGACCGCTGT 0.507000 17 25 0 0 1 0 0 MSX2 4488 broad.mit.edu 37 5 174151740 174151740 + Silent SNP G G C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:174151740G>C ENST00000239243.6 + 1 205 c.78G>C c.(76-78)ccG>ccC p.P26P MSX2_ENST00000507785.1_Silent_p.P26P NM_002449.4 NP_002440.2 P35548 MSX2_HUMAN msh homeobox 2 26 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GACCAGGCCCGGGGCCTGGGG 0.682000 5 20 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62236098 62236098 + Missense_Mutation SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:62236098A>G ENST00000266068.1 - 2 705 c.227T>C c.(226-228)tTa>tCa p.L76S GMEB2_ENST00000370077.1_Missense_Mutation_p.L76S|GMEB2_ENST00000370069.1_Missense_Mutation_p.L25S Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 76 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CTTCCTACCTAACACGGCTTC 0.572000 23 128 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 398171 398171 + Splice_Site SNP C C G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:398171C>G ENST00000356286.5 + 3 874 c.167_splice c.e3-1 p.L57_splice RBCK1_ENST00000353660.3_Splice_Site_p.L15_splice|RBCK1_ENST00000382181.2_5'UTR NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 57 Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) TCTCTGCAGGCTGTGGGTGAG 0.592000 17 58 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62201882 62201882 + Missense_Mutation SNP C C T rs138005803 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:62201882C>T ENST00000467148.1 - 3 614 c.545G>A c.(544-546)aGc>aAc p.S182N HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator AAACGTCCAGCTGTACTGGGT 0.627000 49 32 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784646 9784646 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:9784646C>T ENST00000304374.2 + 1 1389 c.993C>T c.(991-993)gcC>gcT p.A331A NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 331 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCCTCCGGCCGGCTTCCCCT 0.592000 84 84 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6238902 6238902 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:6238902C>T ENST00000265978.4 - 9 2314 c.1956G>A c.(1954-1956)gtG>gtA p.V652V FAM160A2_ENST00000524416.1_Silent_p.V638V|FAM160A2_ENST00000449352.2_Silent_p.V638V NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 638 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATGATCCTGGCACTCCATTGA 0.672000 18 33 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113660947 113660947 + RNA SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:113660947C>T ENST00000393544.2 + 0 995 TAAGCCATGGCGCTTCTCAGG 0.592000 5 11 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82837257 82837257 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:82837257T>C ENST00000265077.3 + 8 9000 c.8435T>C c.(8434-8436)tTa>tCa p.L2812S VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L1825S NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2812 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATACAACATTAGCAGTTTCA 0.458000 88 77 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40502378 40502378 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:40502378G>A ENST00000287598.6 + 18 2547 c.2352G>A c.(2350-2352)gcG>gcA p.A784A BUB1B_ENST00000412359.3_Silent_p.A798A NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 784 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCTGGGTGGCGCCAAGAAACT 0.338000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 36 37 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119044561 119044561 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:119044561C>T ENST00000409109.1 + 5 1190 c.603C>T c.(601-603)gaC>gaT p.D201D NLRX1_ENST00000292199.2_Silent_p.D201D|NLRX1_ENST00000409991.1_Silent_p.D201D|NLRX1_ENST00000525863.1_Silent_p.D201D|NLRX1_ENST00000409265.4_Silent_p.D201D Q86UT6 NLRX1_HUMAN NLR family member X1 201 NACHT.|Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCTGTGAGGACCTGTCATCCC 0.647000 26 45 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35624439 35624439 + Silent SNP T T A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:35624439T>A ENST00000400445.3 + 6 1413 c.879T>A c.(877-879)gcT>gcA p.A293A NBEA_ENST00000379939.2_Silent_p.A293A|NBEA_ENST00000310336.4_Silent_p.A293A|NBEA_ENST00000540320.1_Silent_p.A293A NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 293 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GTTACTCTGCTCATTTTGTTG 0.353000 8 8 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30039052 30039052 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:30039052C>T ENST00000244360.6 - 4 1196 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M RNF39_ENST00000376751.3_Intron NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 367 B30.2/SPRY. cytoplasm zinc ion binding TCCAGGTCCACGCGAATGCGC 0.751000 4 15 0 0 1 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779388 117779388 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:117779388G>A ENST00000528626.1 - 8 1189 c.1116C>T c.(1114-1116)acC>acT p.T372T TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000524993.1_Silent_p.T407T|TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000430170.2_Silent_p.T407T NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 402 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CCTCCTCATCGGTGTAATTGC 0.617000 11 5 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8588799 8588799 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:8588799C>A ENST00000382487.4 + 3 1218 c.801C>A c.(799-801)ccC>ccA p.P267P GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 267 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 AGCTCGTGCCCTTCGTCACCG 0.652000 24 36 5.45024e-15 5.86486e-15 1 1 0 MAP1S 55201 broad.mit.edu 37 19 17836817 17836817 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:17836817C>T ENST00000324096.4 + 5 775 c.624C>T c.(622-624)tgC>tgT p.C208C MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C182C NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 208 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 AGGGCCTGTGCGAATTCCTGG 0.716000 13 15 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7090985 7090985 + Silent SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:7090985A>T ENST00000261407.4 - 4 532 c.447T>A c.(445-447)acT>acA p.T149T U47924.19_ENST00000564245.1_RNA NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 149 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 TCAGCTTCAAAGTCAGAACAC 0.522000 5 81 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397363 125397363 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:125397363G>A ENST00000536769.1 - 1 2531 c.955C>T c.(955-957)Ctc>Ttc p.L319F UBC_ENST00000339647.5_Missense_Mutation_p.L319F|UBC_ENST00000546120.1_Missense_Mutation_p.L243F|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 319 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCACTTCGAGAGTGATGGTC 0.517000 70 189 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92929320 92929320 + Silent SNP G G A rs142689077 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:92929320G>A ENST00000327111.3 + 3 2731 c.1044G>A c.(1042-1044)tcG>tcA p.S348S NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 348 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AGGAGAAGTCGCAGTGCGCAC 0.647000 69 110 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31836101 31836101 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:31836101T>C ENST00000397525.1 - 19 2946 c.2723A>G c.(2722-2724)cAt>cGt p.H908R EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H563R|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H884R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H734R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H908R NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 908 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GCCTGGAGGATGCAGAACTGT 0.512000 44 60 0 0 1 0 0 CD37 0 broad.mit.edu 37 19 49841230 49841230 + Missense_Mutation SNP G G A rs147415665 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:49841230G>A ENST00000535669.2 + 5 505 c.391G>A c.(391-393)Ggc>Agc p.G131S CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Missense_Mutation_p.G63S|CD37_ENST00000323906.4_Missense_Mutation_p.G131S|CD37_ENST00000426897.2_Missense_Mutation_p.G63S|CD37_ENST00000596426.1_3'UTR P11049 CD37_HUMAN CD37 molecule 131 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) CCAAAAGTACGGCACCAACCC 0.642000 22 33 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33095253 33095253 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:33095253G>A ENST00000306065.4 - 25 2729 c.2571C>T c.(2569-2571)ttC>ttT p.F857F NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 857 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity p.F857F(1) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GCTCTACCACGAAGACGTGCT 0.557000 23 25 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56249561 56249561 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:56249561G>A ENST00000332836.2 - 1 207 c.180C>T c.(178-180)gaC>gaT p.D60D NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 60 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GGTAATGTTTGTCCAGCAGCT 0.468000 248 323 0 0 1 0 0 POU3F2 5454 broad.mit.edu 37 6 99283719 99283719 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:99283719C>T ENST00000328345.5 + 1 1140 c.970C>T c.(970-972)Ctg>Ttg p.L324L NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 324 POU-specific. positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity p.L324L(1) endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CATGTGCAAGCTGAAGCCTTT 0.587000 237 163 0 0 1 0 0 TAF8 129685 broad.mit.edu 37 6 42036324 42036324 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:42036324C>T ENST00000372977.3 + 7 777 c.759C>T c.(757-759)aaC>aaT p.N253N TAF8_ENST00000456846.2_Silent_p.N253N|TAF8_ENST00000465926.1_Silent_p.N177N|TAF8_ENST00000494547.1_Silent_p.N253N|TAF8_ENST00000372982.4_Silent_p.N253N NM_138572.2 NP_612639.2 Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 253 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) ACACAGAGAACCTTGCTCTTC 0.532000 80 212 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120386010 120386010 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:120386010C>T ENST00000331113.4 + 5 2609 c.1644C>T c.(1642-1644)agC>agT p.S548S NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 548 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TATCAGGAAGCCATCAAGGTA 0.443000 23 52 0 0 1 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32904929 32904929 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:32904929T>C ENST00000416244.2 - 3 836 c.642A>G c.(640-642)ggA>ggG p.G214G HLA-DMB_ENST00000418107.2_Intron P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 0 Connecting peptide (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 CCTAATTCCATCCATCTGCCA 0.507000 5 98 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428472 57428472 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:57428472C>T ENST00000371100.4 + 1 704 c.152C>T c.(151-153)aCc>aTc p.T51I GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.T51I|GNAS_ENST00000371102.4_Missense_Mutation_p.T51I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GAGATGGAGACCGAACCGCCT 0.652000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 16 4 0 0 1 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349203 103349203 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:103349203C>A ENST00000357421.4 - 2 918 c.738G>T c.(736-738)caG>caT p.Q246H NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 246 transport integral to membrane|mitochondrial inner membrane TTGGCATGTTCTGCCATCCAA 0.527000 24 48 1.22574e-08 1.28894e-08 1 1 0 ATP1A4 480 broad.mit.edu 37 1 160141103 160141103 + Silent SNP G G A rs142215427 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:160141103G>A ENST00000368081.4 + 11 2025 c.1554G>A c.(1552-1554)ccG>ccA p.P518P NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 518 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGGTGCTCCGGAGAGGATCT 0.502000 56 62 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17955064 17955064 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:17955064C>T ENST00000458235.1 - 2 262 c.163G>A c.(163-165)Gtg>Atg p.V55M JAK3_ENST00000534444.1_Missense_Mutation_p.V55M|JAK3_ENST00000527670.1_Missense_Mutation_p.V55M|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 55 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.V55L(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GCAGCCTGCACGCACAGGTCC 0.657000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 8 11 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25050931 25050931 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:25050931C>T ENST00000260600.5 - 13 3123 c.2272G>A c.(2272-2274)Gcc>Acc p.A758T ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 758 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GACAGCACGGCCACATAGTTG 0.597000 OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 27 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75113749 75113749 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:75113749C>T ENST00000290573.2 + 15 2768 c.2168C>T c.(2167-2169)aCa>aTa p.T723I HK2_ENST00000409174.1_Missense_Mutation_p.T695I NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 723 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GACTTCCGCACAGAATTTGAT 0.562000 54 80 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31323957 31323957 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:31323957G>A ENST00000580599.1 + 4 642 c.233G>A c.(232-234)aGc>aAc p.S78N SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.S147N|SPACA3_ENST00000394638.1_Missense_Mutation_p.S44N Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 147 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CAGATCAACAGCCGGAGGTGG 0.607000 61 72 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183994375 183994375 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:183994375C>T ENST00000357474.5 + 2 265 c.146C>T c.(145-147)cCt>cTt p.P49L ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron O60344 ECE2_HUMAN endothelin converting enzyme 2 0 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGGCTTCCCCTTTCTCACCA 0.687000 7 17 0 0 1 0 0 OAF 220323 broad.mit.edu 37 11 120097673 120097673 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:120097673G>A ENST00000328965.4 + 3 1028 c.515G>A c.(514-516)cGc>cAc p.R172H OAF_ENST00000531220.1_Missense_Mutation_p.R56H NM_178507.2 NP_848602.1 Q86UD1 OAF_HUMAN OAF homolog (Drosophila) 172 kidney(1)|lung(5) 6 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) ATCTACACCCGCCAGGAGGAT 0.647000 27 24 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960123 73960123 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:73960123G>A ENST00000373468.1 - 3 4920 c.4269C>T c.(4267-4269)cgC>cgT p.R1423R KIAA2022_ENST00000055682.5_Silent_p.R1423R Q5QGS0 K2022_HUMAN KIAA2022 1423 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGAAGGTAGAGCGAGAGTCCT 0.443000 59 73 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48801143 48801143 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:48801143G>A ENST00000314191.2 - 35 4402 c.4346C>T c.(4345-4347)gCt>gTt p.A1449V PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1449V NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1450 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGACACAACAGCAGCCAGCCT 0.448000 Non-homologous end-joining 7 15 0 0 1 0 0 TBC1D3P5 0 broad.mit.edu 37 17 25748146 25748146 + RNA SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:25748146G>A ENST00000586223.1 + 0 533 NR_033892.1 GGAACTGCCCGGTCAGAGCCC 0.627000 11 11 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103495020 103495020 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:103495020C>T ENST00000372588.4 - 4 1193 c.1110G>A c.(1108-1110)ccG>ccA p.P370P NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 370 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P370P(1) endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCGCCATGGGCGGCCCGGGTG 0.697000 27 37 0 0 1 0 0 CTRB1 1504 broad.mit.edu 37 16 75258615 75258615 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:75258615G>A ENST00000361017.4 + 7 651 c.643G>A c.(643-645)Ggc>Agc p.G215S NM_001906.4 NP_001897.4 chymotrypsinogen B1 central_nervous_system(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.166) CGACTCTGGCGGCCCCCTGGT 0.662000 28 40 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116356773 116356773 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:116356773T>C ENST00000374140.2 + 23 3353 c.3144T>C c.(3142-3144)ccT>ccC p.P1048P RGS3_ENST00000462403.1_Silent_p.P161P|RGS3_ENST00000350696.5_Silent_p.P1048P|RGS3_ENST00000394646.3_Silent_p.P441P|RGS3_ENST00000374134.3_Silent_p.P369P|RGS3_ENST00000462143.1_Silent_p.P369P|RGS3_ENST00000343817.5_Silent_p.P767P|RGS3_ENST00000342620.5_Silent_p.P18P NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1048 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGGAGCCCCTCCCGCGGGCA 0.587000 35 70 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108165727 108165727 + Missense_Mutation SNP T T G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:108165727T>G ENST00000278616.4 + 32 5235 c.4850T>G c.(4849-4851)cTt>cGt p.L1617R ATM_ENST00000452508.2_Missense_Mutation_p.L1617R NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1617 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E1612_Q1620>*(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTAAAGGATCTTCGAAGACAA 0.358000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 45 69 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97235320 97235320 + Silent SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:97235320T>C ENST00000236228.6 + 4 259 c.177T>C c.(175-177)cgT>cgC p.R59R PTBP2_ENST00000426398.2_Silent_p.R59R|PTBP2_ENST00000541987.1_Silent_p.R28R|PTBP2_ENST00000370197.1_Silent_p.R59R|PTBP2_ENST00000394184.3_Silent_p.R70R|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.R59R NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 59 RRM 1. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) CTCCTTCTCGTGTACTTCATA 0.343000 45 72 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135811796 135811796 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:135811796T>C ENST00000367800.4 - 3 316 c.100A>G c.(100-102)Aag>Gag p.K34E AHI1_ENST00000367798.2_Missense_Mutation_p.K34E|AHI1_ENST00000534469.1_Missense_Mutation_p.K34E|AHI1_ENST00000457866.2_Missense_Mutation_p.K34E|AHI1_ENST00000327035.6_Missense_Mutation_p.K34E|AHI1_ENST00000488690.2_Missense_Mutation_p.K34E|AHI1_ENST00000528103.1_Missense_Mutation_p.K34E NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 34 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) AGTTTTTTCTTCAGTTTTTTC 0.348000 39 96 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87165043 87165043 + Splice_Site SNP A A G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:87165043A>G ENST00000285393.3 + 8 1033 c.e8-1 CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 TTCTTTCCTCAGGTACAAATG 0.358000 106 68 0 0 1 0 0 GTDC2 0 broad.mit.edu 37 3 43122426 43122426 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:43122426G>A ENST00000344697.2 - 2 843 c.498C>T c.(496-498)caC>caT p.H166H GTDC2_ENST00000441964.1_Silent_p.H166H NM_032806.4 NP_116195.2 CATGAAAGACGTGCATGAGGT 0.642000 42 62 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997961 144997961 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:144997961G>A ENST00000322810.4 - 31 6716 c.6547C>T c.(6547-6549)Cgg>Tgg p.R2183W PLEC_ENST00000356346.3_Missense_Mutation_p.R2032W|PLEC_ENST00000354589.3_Missense_Mutation_p.R2046W|PLEC_ENST00000398774.2_Missense_Mutation_p.R2014W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2073W|PLEC_ENST00000527096.1_Missense_Mutation_p.R2069W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2050W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2024W NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2183 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTGCAGCCGCTTCTGGGCG 0.701000 5 19 0 0 1 0 0 LZTFL1 54585 broad.mit.edu 37 3 45879420 45879420 + Splice_Site SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:45879420T>C ENST00000296135.6 - 2 301 c.128_splice c.e2+1 p.R43_splice LZTFL1_ENST00000536047.1_Splice_Site_p.R26_splice|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000490463.1_5'UTR NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 43 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CTCTGATACCTGCTCTCCTTG 0.438000 37 45 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49176478 49176478 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:49176478T>C ENST00000307885.4 - 1 1434 c.740A>G c.(739-741)tAc>tGc p.Y247C ADCY6_ENST00000550422.1_Missense_Mutation_p.Y247C|ADCY6_ENST00000357869.3_Missense_Mutation_p.Y247C NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 247 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GTAGGCGATGTAGACAAAGAA 0.662000 5 13 0 0 1 0 0 UBE2G1 7326 broad.mit.edu 37 17 4200057 4200057 + Nonsense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:4200057G>A ENST00000396981.2 - 3 367 c.202C>T c.(202-204)Cga>Tga p.R68* UBE2G1_ENST00000572484.1_5'UTR NM_003342.4 NP_003333.1 P62253 UB2G1_HUMAN ubiquitin-conjugating enzyme E2G 1 68 protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity p.R68R(1) large_intestine(2)|lung(4)|skin(1) 7 TTAGGAGGTCGGAGGGGATAA 0.353000 101 170 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48284175 48284175 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:48284175T>C ENST00000435803.1 + 11 1289 c.1265T>C c.(1264-1266)tTa>tCa p.L422S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 422 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCCCTCAGATTACAGCATCTG 0.393000 12 23 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83239262 83239262 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:83239262C>A ENST00000296591.5 - 11 1837 c.1419G>T c.(1417-1419)ctG>ctT p.L473L EDIL3_ENST00000380138.3_Silent_p.L463L NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 473 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TGCAGCCCAGCAGCTCTGACC 0.483000 25 50 4.4004e-07 4.57246e-07 1 1 0 IFIT1 3434 broad.mit.edu 37 10 91163163 91163163 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:91163163G>A ENST00000546318.1 + 2 2325 c.1038G>A c.(1036-1038)atG>atA p.M346I IFIT1_ENST00000371804.3_Missense_Mutation_p.M377I|LIPA_ENST00000371837.1_Intron NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 377 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 AAGAAACAATGCAAGACATAC 0.338000 48 25 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86990793 86990793 + Missense_Mutation SNP T T C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:86990793T>C ENST00000331536.3 + 5 513 c.328T>C c.(328-330)Ttt>Ctt p.F110L CROT_ENST00000419147.2_Missense_Mutation_p.F138L|CROT_ENST00000442291.1_Missense_Mutation_p.F110L NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 110 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TGCAGCTCATTTTGAACACTA 0.418000 43 67 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312497 86312497 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:86312497C>T ENST00000337975.5 - 2 819 c.545G>A c.(544-546)aGc>aAc p.S182N KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.S182N NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 182 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 GAAGTCCTCGCTCTGCCTCAC 0.617000 30 36 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81102659 81102659 + Nonsense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:81102659C>T ENST00000228641.3 + 3 871 c.649C>T c.(649-651)Cga>Tga p.R217* NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 217 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 GAGTAGCCTTCGATGCCTTTC 0.527000 58 51 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48848477 48848477 + Silent SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:48848477C>T ENST00000293261.3 - 4 820 c.504G>A c.(502-504)ccG>ccA p.P168P TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Silent_p.P133P|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000541566.1_Silent_p.P58P NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 168 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CCTCAGACAGCGGGGAGAAGT 0.622000 67 96 0 0 1 0 0 PIF1 80119 broad.mit.edu 37 15 65110488 65110488 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:65110488C>A ENST00000268043.4 - 10 1590 c.1496G>T c.(1495-1497)gGg>gTg p.G499V PIF1_ENST00000559239.1_Missense_Mutation_p.G499V|PIF1_ENST00000333425.6_Missense_Mutation_p.G499V Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 499 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 AACTACCACCCCTCGGGCACC 0.612000 24 49 1.77063e-15 1.91002e-15 1 1 0 KDM4B 23030 broad.mit.edu 37 19 5131092 5131092 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:5131092G>A ENST00000159111.4 + 12 1539 c.1321G>A c.(1321-1323)Ggg>Agg p.G441R KDM4B_ENST00000536461.1_Missense_Mutation_p.G475R NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 441 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CACAGAGGACGGGAGGGGCAA 0.652000 6 8 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9964925 9964925 + Silent SNP G G A rs139281596 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:9964925G>A ENST00000264833.4 - 6 1487 c.1302C>T c.(1300-1302)aaC>aaT p.N434N OLFM2_ENST00000590841.1_Silent_p.N356N NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 434 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CCTGGTGGCCGTTGTTCCAGG 0.602000 52 61 0 0 1 0 0 EVA1B 55194 broad.mit.edu 37 1 36788049 36788049 + Silent SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:36788049C>A ENST00000270824.1 - 3 636 c.345G>T c.(343-345)tcG>tcT p.S115S EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR NM_018166.1 NP_060636.1 eva-1 homolog B (C. elegans) GCTCCTCCGCCGACGTGAAGA 0.731000 21 25 2.41591e-17 2.61575e-17 1 1 0 DGKI 9162 broad.mit.edu 37 7 137339501 137339501 + Translation_Start_Site SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:137339501C>A ENST00000453654.1 - 0 354 DGKI_ENST00000424189.2_Nonsense_Mutation_p.G239*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.G239*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.G239* O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CTTGAGCCTCCTTCTCGAAAT 0.338000 21 36 1.66031e-10 1.76069e-10 1 1 0 RIMBP2 23504 broad.mit.edu 37 12 130926863 130926863 + Missense_Mutation SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:130926863G>A ENST00000261655.4 - 8 1146 c.983C>T c.(982-984)aCg>aTg p.T328M RIMBP2_ENST00000536002.1_Missense_Mutation_p.T236M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T236M NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 328 Fibronectin type-III 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCTGCTCACCGTTCCCCATCC 0.562000 54 67 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141334145 141334145 + Missense_Mutation SNP C C A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:141334145C>A ENST00000325617.5 - 2 528 c.88G>T c.(88-90)Gac>Tac p.D30Y CLGN_ENST00000414773.1_Missense_Mutation_p.D30Y|CLGN_ENST00000537281.1_Missense_Mutation_p.D30Y NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 30 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding p.D30N(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TCTTCAAAGTCTTCCGTCTCA 0.328000 11 31 1.58986e-06 1.64812e-06 1 1 0 ZCWPW1 55063 broad.mit.edu 37 7 99998670 99998670 + Silent SNP G G A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:99998670G>A ENST00000398027.2 - 18 2161 c.1914C>T c.(1912-1914)ggC>ggT p.G638G ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Silent_p.G467G|ZCWPW1_ENST00000324725.6_Silent_p.G467G NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 638 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAAGTCCTCGCCATCACTGT 0.597000 15 31 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40964971 40964971 + Nonsense_Mutation SNP T T A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:40964971T>A ENST00000313164.9 + 14 2237 c.1878T>A c.(1876-1878)tgT>tgA p.C626* NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 626 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AAATGCATTGTCAGAGTGAGT 0.398000 59 98 0 0 1 0 0 FLT3LG 0 broad.mit.edu 37 19 49982287 49982287 + Missense_Mutation SNP A A T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:49982287A>T ENST00000595510.1 + 5 519 c.218A>T c.(217-219)gAg>gTg p.E73V CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_Missense_Mutation_p.E73V|FLT3LG_ENST00000600429.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000344019.3_Missense_Mutation_p.E155V|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.E137V|FLT3LG_ENST00000597551.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000594009.1_Missense_Mutation_p.E155V P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 155 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CGGTGCCTGGAGCTGCAGTGT 0.647000 8 11 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33630351 33630351 + Missense_Mutation SNP C C T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:33630351C>T ENST00000374316.5 + 9 1818 c.758C>T c.(757-759)aCg>aTg p.T253M ITPR3_ENST00000605930.1_Missense_Mutation_p.T253M Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 253 MIR 3. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 AAGTTCCTGACGTGTGACGAG 0.632000 25 18 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71491650 71491650 + Silent SNP C C T rs143726902 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:71491650C>T ENST00000265382.3 + 6 563 c.258C>T c.(256-258)taC>taT p.Y86Y PIP5K1B_ENST00000541509.1_Silent_p.Y86Y NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 86 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TTAAGACATACGCTCCATTAG 0.373000 28 36 0 0 1 0 0 RPL22 6146 broad.mit.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:6257785delT ENST00000234875.4 - 2 82 c.44delA c.(43-45)agfs p.K16fs RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 16 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome p.K15fs*5(1) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AACTTGCTTCTTTTTTTTGCC 0.398 T RUNX1 """AML, CML""" 16 22 --- --- --- --- ERRFI1 54206 broad.mit.edu 37 1 8074168 8074169 + Frame_Shift_Del DEL AG AG - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:8074168_8074169delAG ENST00000377482.5 - 4 713_714 c.490_491delCT c.(490-492)gfs p.L164fs ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 164 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) TGTGTCATCCAGAGAGAGGGCT 0.475 53 70 --- --- --- --- SPSB1 80176 broad.mit.edu 37 1 9416315 9416315 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:9416315delC ENST00000328089.6 + 2 706 c.365delC c.(364-366)gcfs p.A122fs SPSB1_ENST00000377399.2_Frame_Shift_Del_p.A122fs|SPSB1_ENST00000357898.3_Frame_Shift_Del_p.A122fs NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 122 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) ACGGCAGACGCCCCCCTGCAC 0.657 40 63 --- --- --- --- DNAJC16 23341 broad.mit.edu 37 1 15873320 15873321 + Frame_Shift_Del DEL AT AT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:15873320_15873321delAT ENST00000375847.3 + 6 982_983 c.818_819delAT c.(817-819)cfs p.H273fs DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.H273fs|DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.H273fs NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 273 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AATAAGCCTCATGTCCTTCTGT 0.327 43 83 --- --- --- --- SZT2 23334 broad.mit.edu 37 1 43909340 43909340 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:43909340delC ENST00000562955.1 + 61 8527 c.8527delC c.(8527-8529)ccfs p.P2844fs SZT2_ENST00000372442.1_Frame_Shift_Del_p.P2002fs NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2901 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGATGTGTCGCCCCCGGGAGC 0.577 60 115 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47365870 47365870 + RNA DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:47365870delT ENST00000505841.1 - 0 180 NR_002788.2 atatgtgctgttttttttaAT 0.398 11 15 --- --- --- --- C8A 731 broad.mit.edu 37 1 57373743 57373743 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:57373743delG ENST00000361249.3 + 9 1433 c.1337delG c.(1336-1338)tgfs p.W446fs NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 446 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TACCGTTCCTGGGGGAGGTCA 0.483 41 43 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57537235 57537235 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:57537235delT ENST00000371236.2 - 6 781 c.518delA c.(517-519)agfs p.K173fs DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 173 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTTTGTGCCTTTTTTTCTAA 0.393 18 44 --- --- --- --- NEXN 91624 broad.mit.edu 37 1 78408251 78408251 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:78408251delA ENST00000330010.8 + 12 1870 c.1573delA c.(1573-1575)aafs p.K525fs NEXN_ENST00000457030.1_Frame_Shift_Del_p.K575fs|NEXN_ENST00000334785.7_Frame_Shift_Del_p.K589fs|NEXN_ENST00000480732.1_3'UTR NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 589 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) GAAGCCTCTTAAAAACACATC 0.438 33 57 --- --- --- --- HFM1 164045 broad.mit.edu 37 1 91845795 91845796 + Splice_Site INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:91845795_91845796insA ENST00000370425.3 - 8 972 c.e8-2 HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTAAAGAAGCTAAAAAATAAAA 0.282 22 49 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116648 121116648 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:121116648delA ENST00000437515.1 - 0 329 GCCCCCCTTTAAAAAAAAAGG 0.398 7 55 --- --- --- --- PI4KB 5298 broad.mit.edu 37 1 151265430 151265432 + In_Frame_Del DEL CTC CTC - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:151265430_151265432delCTC ENST00000368875.2 - 13 2963_2965 c.2383_2385delGAG c.(2383-2385)del p.E795del PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 783 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTGCAGCTGCTCCTCAGTCATG 0.542 38 55 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 7 286 --- --- --- --- CRTC2 200186 broad.mit.edu 37 1 153923897 153923898 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:153923897_153923898insG ENST00000368633.1 - 11 1369_1370 c.1242_1243insC c.(1240-1245)cccttafs p.PL414fs CRTC2_ENST00000368630.3_Frame_Shift_Ins_p.PL94fs NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 414 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCAGGGTAAGAGGGGGCGCCCA 0.673 10 18 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 126 205 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr1:231131567delA ENST00000310256.2 + 4 567 c.510delA c.(508-510)gcfs p.A170fs ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCATGACGGCAAAAAAAAAGC 0.383 33 43 --- --- --- --- ROCK2 9475 broad.mit.edu 37 2 11332603 11332603 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:11332603delT ENST00000315872.6 - 31 4371 c.3923delA c.(3922-3924)agfs p.K1308fs ROCK2_ENST00000401753.1_Frame_Shift_Del_p.K1065fs NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1308 PH. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AATCTCCTCCTTTTTGTCCAT 0.388 34 64 --- --- --- --- RAD51AP2 729475 broad.mit.edu 37 2 17698825 17698825 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:17698825delT ENST00000399080.2 - 1 881 c.858delA c.(856-858)aafs p.K286fs NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 286 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CATATGCCTCTTTTTTGTCAT 0.353 17 31 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452260 43452260 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:43452260delC ENST00000282388.3 - 2 976 c.683delG c.(682-684)gcfs p.G228fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 228 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CCCGGAggcgccccccgacgg 0.706 16 31 --- --- --- --- ASPRV1 151516 broad.mit.edu 37 2 70188284 70188284 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:70188284delG ENST00000320256.4 - 1 1113 c.537delC c.(535-537)ccfs p.P179fs NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 179 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity p.P179P(1) endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GCAGGTGGCTGGGGGCAGCCC 0.587 51 48 --- --- --- --- C2orf42 54980 broad.mit.edu 37 2 70392681 70392682 + Frame_Shift_Ins INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:70392681_70392682insT ENST00000264434.2 - 7 1609_1610 c.1230_1231insA c.(1228-1233)aaggctfs p.A411fs C2orf42_ENST00000420306.1_Frame_Shift_Ins_p.A411fs NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 411 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 TTGGGGAGCCGTTTTTTTGCAC 0.406 29 57 --- --- --- --- FBXO41 150726 broad.mit.edu 37 2 73490910 73490910 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:73490910delC ENST00000521871.1 - 8 2386 c.1971delG c.(1969-1971)ggfs p.G657fs FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G718fs|FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G657fs Q8TF61 FBX41_HUMAN F-box protein 41 657 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 TCAGCAGGTTCCCCCCAGCTG 0.637 13 102 --- --- --- --- FER1L5 90342 broad.mit.edu 37 2 97363350 97363350 + RNA DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:97363350delG ENST00000457909.1 + 0 3637 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 GCAGGGAGGTGGGGGGCTGCC 0.547 16 20 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000397712.2_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 20 28 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133543031 133543031 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:133543031delG ENST00000409261.1 - 14 1726 c.1353delC c.(1351-1353)ccfs p.P451fs NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P451fs NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 451 protein binding p.C452fs*21(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTGTTTTGCAGGGGGGATACT 0.463 24 21 --- --- --- --- R3HDM1 23518 broad.mit.edu 37 2 136409480 136409482 + In_Frame_Del DEL CCT CCT - rs139457585 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:136409480_136409482delCCT ENST00000264160.4 + 17 2171_2173 c.1801_1803delCCT c.(1801-1803)del p.P605del R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 605 Poly-Pro. nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) accaccaccacctcctcctcctc 0.586 38 71 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141819647 141819648 + Frame_Shift_Ins INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:141819647_141819648insT ENST00000389484.3 - 8 2179_2180 c.1208_1209insA c.(1207-1209)aagfs p.K403fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 403 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTGTGTCTATTTTTTCCTTG 0.391 TSP Lung(27;0.18) 35 78 --- --- --- --- GRB14 2888 broad.mit.edu 37 2 165350964 165350964 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:165350964delT ENST00000263915.3 - 13 1991 c.1453delA c.(1453-1455)tafs p.I485fs GRB14_ENST00000543549.1_Frame_Shift_Del_p.I398fs|GRB14_ENST00000497306.1_Intron NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 485 SH2. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 AAGTGCTTTATTTTTTGTCCA 0.333 26 48 --- --- --- --- DFNB59 494513 broad.mit.edu 37 2 179325760 179325760 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:179325760delT ENST00000409117.3 + 7 1174 c.818delT c.(817-819)ctfs p.L273fs DFNB59_ENST00000375129.4_Frame_Shift_Del_p.L273fs NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 273 sensory perception of sound p.L273P(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TTGGATGATCTTTTTTCTGAC 0.348 20 153 --- --- --- --- CALCRL 10203 broad.mit.edu 37 2 188250275 188250275 + Frame_Shift_Del DEL A A - rs13391909 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:188250275delA ENST00000409998.1 - 5 829 c.48delT c.(46-48)ttfs p.F16fs CALCRL_ENST00000392370.3_Frame_Shift_Del_p.F16fs|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Frame_Shift_Del_p.F16fs Q16602 CALRL_HUMAN calcitonin receptor-like 16 F -> L (in dbSNP:rs13391909). integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGCTTACCATAAAAAAAGGCA 0.274 10 12 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788373 196788374 + Frame_Shift_Ins INS - - T rs34468832 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:196788373_196788374insT ENST00000312428.6 - 23 3870_3871 c.3770_3771insA c.(3769-3771)aatfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATCGCTAATATTTTTTTTTAC 0.421 21 46 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201683505 201683505 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:201683505delA ENST00000409600.1 + 9 1302 c.847delA c.(847-849)aafs p.K284fs BZW1_ENST00000452790.2_Frame_Shift_Del_p.K316fs|BZW1_ENST00000409226.1_Frame_Shift_Del_p.K288fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 284 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 GGAGGAGATGAAAAAAAACAA 0.368 20 43 --- --- --- --- ORC2 4999 broad.mit.edu 37 2 201785020 201785021 + Frame_Shift_Del DEL AG AG - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:201785020_201785021delAG ENST00000234296.2 - 15 1639_1640 c.1390_1391delCT c.(1390-1392)tfs p.L465fs NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 465 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 CTTTACCAGAAGAGAGTTCTCA 0.426 31 60 --- --- --- --- GPR1 2825 broad.mit.edu 37 2 207041592 207041592 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:207041592delA ENST00000407325.2 - 3 742 c.380delT c.(379-381)tcfs p.F127fs GPR1_ENST00000437420.1_Frame_Shift_Del_p.F127fs NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 127 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) CACTGTCAGGAAAAAAACACT 0.458 55 67 --- --- --- --- SP110 3431 broad.mit.edu 37 2 231072718 231072718 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr2:231072718delT ENST00000258381.6 - 8 963 c.886delA c.(886-888)gcfs p.S296fs SP110_ENST00000486146.2_5'UTR|SP110_ENST00000338556.3_Frame_Shift_Del_p.S48fs|SP110_ENST00000258382.5_Frame_Shift_Del_p.S296fs|SP110_ENST00000358662.4_Frame_Shift_Del_p.S296fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.S302fs|SP110_ENST00000392048.3_Frame_Shift_Del_p.S296fs NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 296 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CCTGGGAGGCTTTTTTTCTTA 0.393 3 6 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:1371501delA ENST00000446702.2 + 11 1873 c.1246delA c.(1246-1248)aafs p.K418fs CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs Q9UQ52 CNTN6_HUMAN contactin 6 418 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.K418fs*63(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAGTCCAGTTAAAAAAAAGTC 0.393 24 45 --- --- --- --- SEMA3B 7869 broad.mit.edu 37 3 50311871 50311871 + RNA DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:50311871delC ENST00000418948.1 + 0 1449 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CGCGGAACCACCCCCTCATGT 0.587 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 120 --- --- --- --- COL8A1 1295 broad.mit.edu 37 3 99513775 99513775 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:99513775delC ENST00000261037.3 + 5 1410 c.1030delC c.(1030-1032)ccfs p.P345fs COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P345fs NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 345 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GCTACCAGGACCCCCAGGCCT 0.622 23 36 --- --- --- --- CCDC80 151887 broad.mit.edu 37 3 112357095 112357095 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:112357095delT ENST00000206423.3 - 2 2611 c.1658delA c.(1657-1659)agfs p.K553fs CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K553fs NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 553 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 attcttcatcttttttttctt 0.398 12 29 --- --- --- --- MCM2 4171 broad.mit.edu 37 3 127323896 127323896 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:127323896delC ENST00000265056.7 + 4 814 c.570delC c.(568-570)ggfs p.G190fs NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 190 Interaction with MYST2 (By similarity). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GCATGGCGGGCCCCCGGCTGG 0.622 38 97 --- --- --- --- IFT122 55764 broad.mit.edu 37 3 129207227 129207227 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:129207227delA ENST00000296266.3 + 17 2324 c.2132delA c.(2131-2133)gafs p.E711fs IFT122_ENST00000431818.2_Frame_Shift_Del_p.E510fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.E451fs|IFT122_ENST00000349441.2_Frame_Shift_Del_p.E549fs|IFT122_ENST00000348417.2_Frame_Shift_Del_p.E660fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.E601fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.E554fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.E652fs NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 660 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TTAGATTTTGAAACAGCAAAG 0.522 29 48 --- --- --- --- ASTE1 28990 broad.mit.edu 37 3 130743461 130743461 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:130743461delG ENST00000264992.3 - 3 1131 c.690delC c.(688-690)ccfs p.P230fs ASTE1_ENST00000514044.1_Frame_Shift_Del_p.P230fs NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 230 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 TCTCCATGATGGGTAGATTAA 0.448 28 92 --- --- --- --- SLC35G2 80723 broad.mit.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:136573486delA ENST00000446465.2 + 2 812 c.184delA c.(184-186)aafs p.K64fs RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 64 Golgi apparatus|integral to membrane GAGTGAAATGAAAAAAAAAGG 0.413 7 173 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141499234 141499234 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:141499234delA ENST00000264952.2 + 2 768 c.631delA c.(631-633)aafs p.K211fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 211 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CGTCCAGGTGAAAAACACTGG 0.458 17 25 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195392917 195392917 + RNA DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr3:195392917delT ENST00000445430.1 + 0 647 CTTCTTGCCCTTTTTTTTTCT 0.418 5 4 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79238582 79238583 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:79238582_79238583insC ENST00000264895.6 + 17 2320_2321 c.1880_1881insC c.(1879-1881)accfs p.T627fs FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 627 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACAGCCTGCAGCCCCCCCAAGG 0.574 47 59 --- --- --- --- INTS12 57117 broad.mit.edu 37 4 106604358 106604360 + In_Frame_Del DEL TGT TGT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:106604358_106604360delTGT ENST00000451321.2 - 7 1398_1400 c.919_921delACA c.(919-921)del p.T307del INTS12_ENST00000394735.1_In_Frame_Del_p.T307del|INTS12_ENST00000340139.5_In_Frame_Del_p.T307del NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 307 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TCAATTTTGCTGTTGAAGGACCA 0.458 42 67 --- --- --- --- LRBA 987 broad.mit.edu 37 4 151749479 151749479 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:151749479delT ENST00000535741.1 - 30 5497 c.5024delA c.(5023-5025)acfs p.N1675fs LRBA_ENST00000507224.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.N1675fs P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1675 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CACATTGACGTTTTTTGAAAC 0.448 30 67 --- --- --- --- FBXO8 26269 broad.mit.edu 37 4 175160263 175160263 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr4:175160263delA ENST00000393674.2 - 5 1516 c.654delT c.(652-654)ttfs p.F218fs FBXO8_ENST00000503293.1_Frame_Shift_Del_p.F177fs NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 218 SEC7. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) GGATATGACGAAAAAATTCTC 0.388 24 35 --- --- --- --- SREK1IP1 285672 broad.mit.edu 37 5 64023941 64023941 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:64023941delT ENST00000513458.4 - 4 438 c.271delA c.(271-273)ggfs p.R91fs NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 91 Lys-rich. mRNA processing|RNA splicing nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 TACCttttccttttttttttc 0.264 6 1 --- --- --- --- SLCO4C1 353189 broad.mit.edu 37 5 101627312 101627313 + Splice_Site INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:101627312_101627313insA ENST00000310954.6 - 2 642 c.e2-2 NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CTACAATACCTAAAAAACAGAA 0.312 18 28 --- --- --- --- WDR55 54853 broad.mit.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140049102delA ENST00000358337.5 + 7 1252 c.1015delA c.(1015-1017)aafs p.K341fs WDR55_ENST00000520764.1_3'UTR NM_017706.4 NP_060176.2 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 341 rRNA processing cytoplasm|nucleolus p.K341fs*8(1) NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTCGGCGCAAAAAAAAGGG 0.592 19 20 --- --- --- --- PCDHB14 0 broad.mit.edu 37 5 140604308 140604309 + Frame_Shift_Del DEL AG AG - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr5:140604308_140604309delAG ENST00000239449.4 + 1 1231_1232 c.1231_1232delAG c.(1231-1233)afs p.R411fs PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.R258fs NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 411 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCACTGGACAGAGAGAGCCAA 0.470 105 115 --- --- --- --- TUBB2B 347733 broad.mit.edu 37 6 3225652 3225653 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:3225652_3225653insC ENST00000259818.7 - 4 861_862 c.670_671insG c.(670-672)cctfs p.P224fs TUBB2B_ENST00000473006.1_5'UTR NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb 224 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) GTGGTTGAGGTCCCCGTAGGTG 0.614 44 53 --- --- --- --- RREB1 6239 broad.mit.edu 37 6 7247181 7247181 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:7247181delC ENST00000379938.2 + 12 5035 c.4498delC c.(4498-4500)ccfs p.P1501fs RREB1_ENST00000349384.6_Frame_Shift_Del_p.P1446fs|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Frame_Shift_Del_p.P1446fs NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1446 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGAGGAGAAGCCCCCCGAGAC 0.746 11 3 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7583793 7583793 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:7583793delT ENST00000379802.3 + 24 6639 c.6298delT c.(6298-6300)ttfs p.F2100fs DSP_ENST00000418664.2_Frame_Shift_Del_p.F1501fs NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2100 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGATGATCCATTTTCAGGCAA 0.468 225 156 --- --- --- --- C6orf10 10665 broad.mit.edu 37 6 32261771 32261772 + Frame_Shift_Ins INS - - T rs560505 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:32261771_32261772insT ENST00000375015.4 - 26 875_876 c.675_676insA c.(673-678)aacttgfs p.N225fs C6orf10_ENST00000533191.1_Frame_Shift_Ins_p.N224fs|C6orf10_ENST00000442822.2_Frame_Shift_Ins_p.N217fs|C6orf10_ENST00000375007.4_Frame_Shift_Ins_p.N224fs|C6orf10_ENST00000447241.2_Frame_Shift_Ins_p.N226fs|C6orf10_ENST00000527965.1_Frame_Shift_Ins_p.N210fs Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 226 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TTGGAACAAGATTTTTTTGCAA 0.337 61 58 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79711725 79711726 + Frame_Shift_Ins INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:79711725_79711726insA ENST00000275034.4 - 17 1936_1937 c.1769_1770insT c.(1768-1770)tgtfs p.C590fs NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 590 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CAACATCAACCAAAAAAGGGGG 0.426 38 95 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87970974 87970974 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:87970974delA ENST00000369577.3 + 8 7670 c.7627delA c.(7627-7629)aafs p.K2544fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K2539fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CTCACAAAATAAAAAAAGGAA 0.358 37 40 --- --- --- --- EZR 7430 broad.mit.edu 37 6 159188477 159188477 + Frame_Shift_Del DEL G G - rs139613796 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr6:159188477delG ENST00000367075.3 - 13 1580 c.1412delC c.(1411-1413)cgfs p.P476fs EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 476 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TGGTGGGGGCGGGGGTGCTGT 0.597 T ROS1 NSCLC 100 84 --- --- --- --- ANLN 54443 broad.mit.edu 37 7 36461586 36461588 + In_Frame_Del DEL CTT CTT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:36461586_36461588delCTT ENST00000265748.2 + 13 2505_2507 c.2284_2286delCTT c.(2284-2286)del p.L764del ANLN_ENST00000396068.2_In_Frame_Del_p.L727del NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 764 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AGCAGAAAGACTTCTTCTAATTG 0.379 37 53 --- --- --- --- DPY19L2P2 0 broad.mit.edu 37 7 102852609 102852609 + RNA DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:102852609delT ENST00000312132.4 - 0 3344 TAAAAATACCTTTTTAAAGAT 0.259 3 3 --- --- --- --- RP11-274B21.1 0 broad.mit.edu 37 7 128249447 128249447 + RNA DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:128249447delT ENST00000605862.1 + 0 665 GAGCAAGTGCTTTTTTTTCCC 0.408 8 11 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140482927 140482927 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:140482927delG ENST00000288602.6 - 10 1268 c.1208delC c.(1207-1209)ctfs p.P403fs NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 403 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TAATGAGGCAGGGGGGGTAGC 0.428 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 33 --- --- --- --- CHPF2 54480 broad.mit.edu 37 7 150935414 150935415 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:150935414_150935415insG ENST00000035307.2 + 4 3479_3480 c.1966_1967insG c.(1966-1968)gggfs p.G656fs CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.G648fs NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 656 Gly/Pro-rich. Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 TGACCCCTCCCGGGGGGCTCCT 0.678 16 20 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151873588 151873588 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr7:151873588delA ENST00000355193.2 - 38 9168 c.8950delT c.(8950-8952)ctfs p.S2984fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.S2984fs lysine (K)-specific methyltransferase 2C ACACCCTGAGAAAAAACATGG 0.473 30 27 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 103 67 --- --- --- --- SPAG11B 10407 broad.mit.edu 37 8 7308689 7308690 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:7308689_7308690insG ENST00000297498.2 - 3 412_413 c.246_247insC c.(244-249)cccattfs p.I83fs SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000528168.1_Frame_Shift_Ins_p.I30fs|SPAG11B_ENST00000361111.2_Intron NM_016512.3 NP_057596.1 Q08648 SG11B_HUMAN sperm associated antigen 11B 83 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) ATCCTAAATGAGGGTCCTCGAG 0.460 80 65 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18729144 18729145 + Frame_Shift_Ins INS - - TC TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:18729144_18729145insTC ENST00000440756.2 - 3 1331_1332 c.1229_1230insGA c.(1228-1230)gagfs p.E410fs PSD3_ENST00000523619.1_Frame_Shift_Ins_p.E345fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.E410fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 410 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACCTTTCCCTGTCTCTCTCTGG 0.450 77 64 --- --- --- --- RP11-380I10.4 0 broad.mit.edu 37 8 28158143 28158144 + RNA INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:28158143_28158144insA ENST00000521731.1 - 0 230 GGACAACAACTAAAAAAAAAGA 0.322 7 19 --- --- --- --- GSR 2936 broad.mit.edu 37 8 30539472 30539473 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:30539472_30539473insG ENST00000221130.5 - 11 1349_1350 c.1259_1260insC c.(1258-1260)catfs p.H420fs GSR_ENST00000537535.1_Frame_Shift_Ins_p.H338fs|GSR_ENST00000546342.1_Frame_Shift_Ins_p.H391fs|GSR_ENST00000541648.1_Frame_Shift_Ins_p.H367fs|GSR_ENST00000414019.1_Frame_Shift_Ins_p.H377fs NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 420 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) CTGTCCCAATAGGGGGGTGGCT 0.441 26 126 --- --- --- --- ADAM32 203102 broad.mit.edu 37 8 39068767 39068767 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:39068767delA ENST00000379907.4 + 12 1284 c.1157delA c.(1156-1158)cafs p.Q386fs ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 386 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CCACAAATGCAAAAAAAATCT 0.383 10 31 --- --- --- --- AP3M2 10947 broad.mit.edu 37 8 42022614 42022614 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:42022614delG ENST00000518421.1 + 6 900 c.609delG c.(607-609)cafs p.Q203fs AP3M2_ENST00000174653.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000396926.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.Q203fs NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 203 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) CTGAGATCCAGGGGGTGATTG 0.443 19 89 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48701554 48701555 + Frame_Shift_Ins INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:48701554_48701555insT ENST00000314191.2 - 77 10867_10868 c.10811_10812insA c.(10810-10812)aatfs p.N3604fs PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3605 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TTTTTTCAATGTTTTTTTTATT 0.401 Non-homologous end-joining 22 121 --- --- --- --- SOX17 64321 broad.mit.edu 37 8 55371765 55371766 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:55371765_55371766insG ENST00000297316.4 + 2 659_660 c.455_456insG c.(454-456)gggfs p.G152fs NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 152 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) AAGCGGGTGGAGGGCGGCTTCC 0.743 21 7 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61778453 61778454 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:61778453_61778454insG ENST00000423902.2 + 38 9434_9435 c.8955_8956insG c.(8953-8958)gaggggfs p.EG2985fs CHD7_ENST00000524602.1_Frame_Shift_Ins_p.EG936fs NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2985 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACTCACTTGATGGGGGGGATGA 0.446 18 16 --- --- --- --- NCOA2 10499 broad.mit.edu 37 8 71056964 71056964 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:71056964delT ENST00000452400.2 - 13 2906 c.2725delA c.(2725-2727)gtfs p.S909fs NCOA2_ENST00000267974.4_Intron NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 909 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GAGTAGGGACTACTGTTTCTG 0.468 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 43 102 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106815052 106815052 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:106815052delA ENST00000407775.2 + 8 2992 c.2742delA c.(2740-2742)atfs p.I914fs ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.I645fs|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 914 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAAGCATAATAAAATGTGAGA 0.453 42 20 --- --- --- --- SNTB1 6641 broad.mit.edu 37 8 121561041 121561041 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:121561041delA ENST00000395601.3 - 6 1708 c.1294delT c.(1294-1296)gcfs p.C432fs SNTB1_ENST00000517992.1_Frame_Shift_Del_p.C432fs NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 432 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GAATTGTGGCAACCCTGTACT 0.507 8 112 --- --- --- --- SQLE 6713 broad.mit.edu 37 8 126011893 126011893 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:126011893delC ENST00000265896.5 + 1 1146 c.248delC c.(247-249)tcfs p.S83fs SQLE_ENST00000523430.1_Intron NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 83 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TGGGCCAAATCCCCCCCTGAA 0.547 38 31 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144947314 144947314 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:144947314delG ENST00000525985.1 - 2 179 c.108delC c.(106-108)ccfs p.P36fs P58107 EPIPL_HUMAN epiplakin 1 36 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGGGGCCTGGGGGGCGTGC 0.697 38 123 --- --- --- --- ARHGAP39 80728 broad.mit.edu 37 8 145773375 145773375 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr8:145773375delG ENST00000276826.5 - 4 1296 c.1095delC c.(1093-1095)ccfs p.P365fs ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.P365fs|ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.P365fs Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 365 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGCAGGGCGAGGGGGGGCCCT 0.701 20 51 --- --- --- --- TYRP1 7306 broad.mit.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:12702411_12702414delACAA ENST00000388918.5 + 5 1183_1186 c.1054_1057delACAA c.(1054-1059)acfs p.TN352fs TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 352 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity p.N353fs*31(2) NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) TTCCAACTCTACAAACAGTTTCCG 0.387 Oculocutaneous Albinism 14 24 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18829843 18829843 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:18829843delC ENST00000380548.4 + 23 4456 c.4117delC c.(4117-4119)ccfs p.P1374fs ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.P75fs NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1374 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TCTCACAGATCCCCCCCAAGT 0.567 36 51 --- --- --- --- NFX1 0 broad.mit.edu 37 9 33294897 33294897 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:33294897delA ENST00000379540.3 + 2 567 c.505delA c.(505-507)aafs p.K170fs NFX1_ENST00000318524.6_Frame_Shift_Del_p.K170fs|NFX1_ENST00000379521.4_Frame_Shift_Del_p.K170fs NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 170 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) AGCAAAACCCAAAAAAGCAAC 0.483 31 64 --- --- --- --- ALDH1A1 216 broad.mit.edu 37 9 75545849 75545849 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:75545849delC ENST00000297785.3 - 3 312 c.258delG c.(256-258)ggfs p.G86fs ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.G86fs NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 86 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ATAATAGTCGCCCCCTCTCGG 0.498 58 88 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84607691 84607692 + Frame_Shift_Ins INS - - G rs34942699 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:84607691_84607692insG ENST00000344803.2 + 4 2353_2354 c.2306_2307insG c.(2305-2307)gggfs p.G769fs NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ATGGAGAATGTGGGGAATTATC 0.480 48 48 --- --- --- --- UGCG 7357 broad.mit.edu 37 9 114695179 114695180 + Frame_Shift_Ins INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:114695179_114695180insT ENST00000374279.3 + 9 1537_1538 c.1087_1088insT c.(1087-1089)tttfs p.F363fs NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 363 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity p.I363V(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) GACAATATACATTTTTTTGTCT 0.401 19 119 --- --- --- --- VAV2 7410 broad.mit.edu 37 9 136633624 136633626 + In_Frame_Del DEL CAC CAC - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:136633624_136633626delCAC ENST00000371851.1 - 27 2822_2824 c.2497_2499delGTG c.(2497-2499)del p.V833del VAV2_ENST00000406606.3_In_Frame_Del_p.V804del|VAV2_ENST00000371850.3_In_Frame_Del_p.V843del P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 843 SH3 2. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TGTAGATCCTCACCACGTCACCC 0.650 36 83 --- --- --- --- QSOX2 169714 broad.mit.edu 37 9 139107074 139107074 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:139107074delG ENST00000358701.5 - 10 1323 c.1286delC c.(1285-1287)cgfs p.P429fs NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 429 ERV/ALR sulfhydryl oxidase. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GAGAGAACACGGGTAACCCCT 0.458 17 43 --- --- --- --- NPDC1 56654 broad.mit.edu 37 9 139935633 139935633 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr9:139935633delC ENST00000371600.3 - 2 1172 c.500delG c.(499-501)gcfs p.G167fs NPDC1_ENST00000371601.4_Frame_Shift_Del_p.G89fs|NPDC1_ENST00000488145.1_5'UTR Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 89 Pro/Ser/Thr-rich. integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CTGGGGCCGGCCCCCGCCTGG 0.687 4 3 --- --- --- --- LARP4B 23185 broad.mit.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:890939delT ENST00000316157.3 - 5 527 c.487delA c.(487-489)cafs p.T163fs NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 163 HTH La-type RNA-binding. nucleotide binding|RNA binding p.T163P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 AATTCCAATGTTTTTTTAAGT 0.353 52 64 --- --- --- --- RBM17 84991 broad.mit.edu 37 10 6139070 6139070 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:6139070delA ENST00000446108.1 + 2 686 c.42delA c.(40-42)tcfs p.S14fs RBM17_ENST00000379888.4_Frame_Shift_Del_p.S14fs NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 14 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 CCAGTGACTCAAAAACAGAAG 0.463 54 127 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24832391 24832391 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:24832391delG ENST00000376451.2 + 14 3501 c.3241delG c.(3241-3243)ggfs p.G1081fs KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.G1398fs|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron Q5T5P2 SKT_HUMAN KIAA1217 1398 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCTTTCCAGTGGGGAGGTGCA 0.458 41 54 --- --- --- --- ARHGAP21 57584 broad.mit.edu 37 10 24874838 24874838 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:24874838delT ENST00000396432.2 - 26 4866 c.4380delA c.(4378-4380)aafs p.K1460fs NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1459 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TCTCACTTTCTTTTTTGGACT 0.393 70 129 --- --- --- --- GPR158 57512 broad.mit.edu 37 10 25861746 25861746 + Frame_Shift_Del DEL G G - rs138208272 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:25861746delG ENST00000376351.3 + 7 2042 c.1683delG c.(1681-1683)cafs p.Q561fs NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 561 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTATTGGCCAGGGGAAAACAT 0.453 24 41 --- --- --- --- PTCHD3 374308 broad.mit.edu 37 10 27702951 27702951 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:27702951delG ENST00000438700.3 - 1 346 c.229delC c.(229-231)ggfs p.R77fs NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 77 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 ATCGACGGCCGGGGGGGTGCA 0.716 7 99 --- --- --- --- GLUD1P2 0 broad.mit.edu 37 10 48980053 48980053 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:48980053delA ENST00000594520.1 + 0 864 aaaattatacaaaaaaaaaaG 0.443 4 5 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61831290 61831290 + Frame_Shift_Del DEL T T - rs28932171 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:61831290delT ENST00000280772.1 - 37 9540 c.9349delA c.(9349-9351)tcfs p.I3118fs ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3118 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGACTTATGATTTTTTTTACA 0.403 78 187 --- --- --- --- C10orf54 64115 broad.mit.edu 37 10 73511467 73511467 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:73511467delG ENST00000394957.3 - 6 914 c.856delC c.(856-858)tgfs p.L286fs CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 286 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GGAGGAGACAGGGGGGTGCTG 0.617 29 72 --- --- --- --- MYOZ1 58529 broad.mit.edu 37 10 75393728 75393728 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:75393728delT ENST00000359322.4 - 5 962 c.598delA c.(598-600)tgfs p.M200fs NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 200 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CCAAGTTCCATTTTTTGCTGG 0.517 47 141 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89717674 89717675 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:89717674_89717675insC ENST00000371953.3 + 7 2056_2057 c.699_700insC c.(697-702)cggggafs p.RG233fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234fs*24(1)|p.G165_*404del(1)|p.?(1)|p.R234fs*10(1)|p.R233fs*10(1)|p.R234fs*27(1)|p.R234W(1)|p.R234fs*23(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*3(1)|p.R234fs*26(1)|p.R234fs*4(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GACCCACACGACGGGAAGACAA 0.416 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 43 112 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 66 141 --- --- --- --- SORCS3 22986 broad.mit.edu 37 10 106976790 106976790 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:106976790delG ENST00000369701.3 + 19 2871 c.2644delG c.(2644-2646)tgfs p.V882fs SORCS3_ENST00000369699.4_Frame_Shift_Del_p.V168fs NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 882 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CATCAAGCACGTGTATAAGAG 0.517 32 76 --- --- --- --- ADRA2A 150 broad.mit.edu 37 10 112837856 112837856 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:112837856delG ENST00000280155.2 + 1 1067 c.102delG c.(100-102)ccfs p.P34fs NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 19 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding p.G22fs*>430(1) breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) CCGAggcgccggggggcggcg 0.726 5 10 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114900983 114900984 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:114900983_114900984insC ENST00000355995.4 + 6 1100_1101 c.593_594insC c.(592-594)cccfs p.P198fs TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.P222fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.P223fs|TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.P198fs Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 198 Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CACCATGTCCACCCCCTCACGC 0.569 T VTI1A colorectal 43 140 --- --- --- --- ATRNL1 26033 broad.mit.edu 37 10 117226764 117226765 + Splice_Site INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:117226764_117226765insA ENST00000355044.3 + 23 3622 c.e23+2 ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTTCAACAGGTAAAAAAATGTT 0.287 14 37 --- --- --- --- RAB11FIP2 22841 broad.mit.edu 37 10 119768725 119768725 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:119768725delG ENST00000355624.3 - 5 1762 c.1323delC c.(1321-1323)ccfs p.P441fs RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.P461fs NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 441 FIP-RBD. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) TGGCATCAAAGGGGTTGCTGT 0.428 11 155 --- --- --- --- PWWP2B 170394 broad.mit.edu 37 10 134218255 134218255 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr10:134218255delC ENST00000305233.5 + 2 310 c.251delC c.(250-252)tcfs p.S84fs PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.S84fs NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 84 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GGGTCCAGCTCCCCCCCTCCT 0.746 7 123 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46912011 46912011 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:46912011delG ENST00000378623.1 - 14 1974 c.1732delC c.(1732-1734)gtfs p.R578fs NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 578 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GCCTCAATACGGGGGGTGTTG 0.542 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 35 --- --- --- --- PACSIN3 29763 broad.mit.edu 37 11 47200457 47200457 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:47200457delG ENST00000539589.1 - 9 1367 c.1025delC c.(1024-1026)cgfs p.P342fs PACSIN3_ENST00000298838.6_Frame_Shift_Del_p.P342fs NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 342 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 TGGGGACCCCGGGGACTGGGG 0.602 28 62 --- --- --- --- OR4C6 219432 broad.mit.edu 37 11 55432816 55432816 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:55432816delT ENST00000314259.3 + 1 203 c.174delT c.(172-174)tafs p.Y58fs NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CACCTATGTATTTTTTTCTTA 0.423 57 92 --- --- --- --- DTX4 23220 broad.mit.edu 37 11 58958609 58958609 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:58958609delA ENST00000227451.3 + 5 1286 c.1182delA c.(1180-1182)ctfs p.L394fs DTX4_ENST00000532982.1_Frame_Shift_Del_p.L288fs|DTX4_ENST00000531902.1_3'UTR NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 394 Notch signaling pathway cytoplasm zinc ion binding p.K290fs*34(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) AGGAAGTGCTAAAAAAATATC 0.502 5 5 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948748 71948748 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:71948748delC ENST00000541756.1 + 26 3664 c.2734delC c.(2734-2736)ccfs p.P913fs INPPL1_ENST00000298229.2_Frame_Shift_Del_p.P1155fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1155 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGAGCTGCAGCCCCCCCGGGG 0.697 12 35 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948755 71948755 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:71948755delG ENST00000541756.1 + 26 3671 c.2741delG c.(2740-2742)cgfs p.R914fs INPPL1_ENST00000298229.2_Frame_Shift_Del_p.R1156fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.R914fs O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1156 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAGCCCCCCCGGGGACTGCCC 0.697 16 29 --- --- --- --- XRRA1 143570 broad.mit.edu 37 11 74554923 74554923 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:74554923delG ENST00000340360.6 - 18 2432 c.2101delC c.(2101-2103)ggfs p.R701fs XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R426fs|XRRA1_ENST00000527087.1_Intron NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 701 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GTAATGTTCCGGGGATCCCGC 0.557 11 14 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89403521 89403522 + RNA INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:89403521_89403522insT ENST00000532352.1 + 0 908 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GTTTTGTTTTGTTTTTTTTCAA 0.332 9 20 --- --- --- --- CEP57 9702 broad.mit.edu 37 11 95552024 95552026 + In_Frame_Del DEL GAA GAA - rs142615007 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:95552024_95552026delGAA ENST00000325542.5 + 6 893_895 c.655_657delGAA c.(655-657)del p.E221del CEP57_ENST00000537677.1_In_Frame_Del_p.E194del|CEP57_ENST00000325486.5_In_Frame_Del_p.E221del|CEP57_ENST00000541150.1_In_Frame_Del_p.E212del|CEP57_ENST00000538658.1_In_Frame_Del_p.E221del NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 221 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAAACTCCATGAAGAAGAACAGG 0.345 Mosaic Variegated Aneuploidy Syndrome 23 37 --- --- --- --- TECTA 7007 broad.mit.edu 37 11 120983885 120983885 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr11:120983885delC ENST00000392793.1 + 5 862 c.591delC c.(589-591)gafs p.D197fs TECTA_ENST00000264037.2_Frame_Shift_Del_p.D197fs O75443 TECTA_HUMAN tectorin alpha 197 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTGGCGGCGACCCCCTGACAG 0.582 OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 75 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2614074 2614074 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:2614074delT ENST00000399655.1 + 8 1445 c.1180delT c.(1180-1182)ttfs p.F395fs CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.F395fs NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 395 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATAGGGTCATTTTTTGTACT 0.403 18 26 --- --- --- --- PLEKHA5 54477 broad.mit.edu 37 12 19427544 19427545 + Frame_Shift_Ins INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:19427544_19427545insA ENST00000538714.1 + 10 926_927 c.922_923insA c.(922-924)aaafs p.K308fs PLEKHA5_ENST00000317589.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000355397.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000299275.6_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000543806.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000429027.2_Frame_Shift_Ins_p.K314fs|PLEKHA5_ENST00000359180.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000539256.1_Frame_Shift_Ins_p.K66fs NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 308 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CCAAAACAATCAAAAAAACAAG 0.327 23 29 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39745622 39745623 + Frame_Shift_Ins INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:39745622_39745623insT ENST00000395670.3 - 11 2048_2049 c.1629_1630insA c.(1627-1632)aaatttfs p.F544fs KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.F544fs Q7Z4S6 KI21A_HUMAN kinesin family member 21A 544 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTCTCTAAATCTTTTTTTGCTA 0.337 32 44 --- --- --- --- HDAC7 51564 broad.mit.edu 37 12 48181527 48181527 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:48181527delG ENST00000080059.7 - 21 2420 c.2421delC c.(2419-2421)ccfs p.P807fs HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P770fs|HDAC7_ENST00000427332.2_Frame_Shift_Del_p.P768fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P824fs|HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P790fs NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 768 Histone deacetylase. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GATCCCCCATGGGGGGGTCCA 0.622 11 9 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434073 49434074 + Frame_Shift_Ins INS - - C rs10747559 by1000genomes TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:49434073_49434074insC ENST00000301067.7 - 31 7478_7479 c.7479_7480insG c.(7477-7482)ggtcccfs p.P2494fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCTGCTGGGAACCCCCCAGCCC 0.653 25 64 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49440431 49440431 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:49440431delG ENST00000301067.7 - 15 4378 c.4379delC c.(4378-4380)cafs p.P1460fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGTGAGCAGTGGGGGGTCCAG 0.562 52 123 --- --- --- --- RNF41 10193 broad.mit.edu 37 12 56600292 56600293 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:56600292_56600293insC ENST00000345093.4 - 7 1261_1262 c.892_893insG c.(892-894)tgafs p.*298fs RNF41_ENST00000394013.2_Frame_Shift_Ins_p.*227fs|RNF41_ENST00000552656.1_Frame_Shift_Ins_p.*298fs NM_005785.3|NM_194359.2 NP_005776.1|NP_919340.1 Q9H4P4 RNF41_HUMAN ring finger protein 41 298 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 11 CACCATGTCATCCCCCATGTGC 0.515 OREG0021921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 128 143 --- --- --- --- MDM1 56890 broad.mit.edu 37 12 68724964 68724964 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:68724964delT ENST00000303145.7 - 2 142 c.56delA c.(55-57)agfs p.K19fs MDM1_ENST00000393543.3_Frame_Shift_Del_p.K19fs|MDM1_ENST00000411698.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000430606.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'UTR NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 19 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CAAATAAGACTTTTTCCACAG 0.423 56 82 --- --- --- --- SUDS3 64426 broad.mit.edu 37 12 118814517 118814522 + In_Frame_Del DEL GGCCCC GGCCCC - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:118814517_118814522delGGCCCC ENST00000543473.1 + 1 333_338 c.21_26delGGCCCC c.(19-27)ctg>ct p.LAP7del SUDS3_ENST00000397564.2_In_Frame_Del_p.LAP7del NM_022491.2 NP_071936.2 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 homolog (S. cerevisiae) 7 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding breast(1)|lung(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGGGCTGCTGGCCCCGGCCCCGGCC 0.743 5 9 --- --- --- --- P2RX2 0 broad.mit.edu 37 12 133196264 133196264 + Splice_Site DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr12:133196264delG ENST00000389110.3 + 3 346 c.e3-1 P2RX2_ENST00000348800.5_Splice_Site|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Splice_Site|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) TCTGAGCCCAGGGGGGCAGCG 0.756 25 33 --- --- --- --- POSTN 10631 broad.mit.edu 37 13 38144790 38144790 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:38144790delT ENST00000379747.4 - 19 2313 c.2196delA c.(2194-2196)aafs p.K732fs POSTN_ENST00000379749.4_Frame_Shift_Del_p.K732fs|POSTN_ENST00000379743.4_Frame_Shift_Del_p.K705fs|POSTN_ENST00000379742.4_Frame_Shift_Del_p.K675fs|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Frame_Shift_Del_p.K705fs NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 732 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTTTGGTGTATTTTTTAATAA 0.343 32 63 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46543691 46543691 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:46543691delT ENST00000242848.4 - 14 3336 c.2988delA c.(2986-2988)aafs p.K996fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 996 Lys-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TTTTCTGTCCTTTTTTTGGTG 0.333 8 73 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77844149 77844149 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:77844149delT ENST00000407578.2 - 7 1504 c.1238delA c.(1237-1239)agfs p.K413fs MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAACCAAGACTTTTTTTCTTT 0.289 60 99 --- --- --- --- RP11-811P12.3 0 broad.mit.edu 37 13 103054139 103054139 + RNA DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:103054139delC ENST00000418923.2 - 0 331 AATGATTTATCCCCCCTCGAT 0.418 2 4 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 32 35 --- --- --- --- OR4K13 390433 broad.mit.edu 37 14 20502375 20502375 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:20502375delA ENST00000315693.2 - 1 544 c.543delT c.(541-543)ctfs p.L181fs NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCACAAGGGGAAGGTCACAGA 0.483 29 71 --- --- --- --- TRAV12-3 0 broad.mit.edu 37 14 22433683 22433684 + RNA INS - - T TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:22433683_22433684insT ENST00000390442.3 + 0 4_5 GTTTGTTATTATTTTTTTTTCG 0.351 16 22 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31291082 31291082 + RNA DEL A A - rs111525555 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:31291082delA ENST00000554665.1 - 0 208 AATTAAAAAGAAAAAAAAAAC 0.313 8 4 --- --- --- --- NKX2-1 7080 broad.mit.edu 37 14 36987157 36987157 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:36987157delC ENST00000518149.1 - 3 1047 c.442delG c.(442-444)acfs p.D148fs RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000354822.5_Frame_Shift_Del_p.D178fs|NKX2-1_ENST00000522719.2_Frame_Shift_Del_p.D148fs P43699 NKX21_HUMAN NK2 homeobox 1 148 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) TTGCTCACGTCCCCCAGCGAG 0.687 A NSCLC 13 26 --- --- --- --- SNAPC1 6617 broad.mit.edu 37 14 62242911 62242911 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:62242911delT ENST00000216294.4 + 5 737 c.633delT c.(631-633)gafs p.D211fs RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 211 SNAPC4-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.D214fs*1(2) endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) TAAAGGATGATTTTTTTGACA 0.358 19 32 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72054754 72054755 + Frame_Shift_Ins INS - - C rs12884638 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:72054754_72054755insC ENST00000555818.1 + 2 513_514 c.165_166insC c.(163-168)ggccccfs p.GP55fs SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 55 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTCCTGTAGGACCCCCCCGAAG 0.535 56 90 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:74205773delG ENST00000286523.5 - 2 1721 c.939delC c.(937-939)ccfs p.P313fs ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 TATCTGGGTTGGGGGGGAAGG 0.662 16 20 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75248388 75248388 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:75248388delC ENST00000325680.7 + 4 1766 c.1642delC c.(1642-1644)ccfs p.P549fs YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Del_p.P549fs NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCAGTGATGCCCCCTGCCCT 0.577 26 357 --- --- --- --- CDC42BPB 9578 broad.mit.edu 37 14 103447224 103447224 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:103447224delA ENST00000361246.2 - 8 1314 c.1026delT c.(1024-1026)ttfs p.F342fs NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 342 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.E343fs*1(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TTAGACCTTCAAAAAACGCAT 0.458 45 78 --- --- --- --- EXOC3L4 91828 broad.mit.edu 37 14 103573972 103573973 + Frame_Shift_Del DEL CT CT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:103573972_103573973delCT ENST00000380069.3 + 9 1782_1783 c.1706_1707delCT c.(1705-1707)afs p.T569fs NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 569 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GCCCAGGAGACTCTGCAGGAGG 0.703 8 14 --- --- --- --- KIF26A 26153 broad.mit.edu 37 14 104642560 104642560 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr14:104642560delC ENST00000315264.7 + 11 3396 c.3018delC c.(3016-3018)ggfs p.G1006fs KIF26A_ENST00000423312.2_Frame_Shift_Del_p.G1145fs Q9ULI4 KI26A_HUMAN kinesin family member 26A 1145 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) ACCCTGGGGGCCCCCCTGCCC 0.711 10 15 --- --- --- --- RP11-566K19.6 0 broad.mit.edu 37 15 23114116 23114116 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:23114116delA ENST00000557922.1 - 0 243 NR_040057.1 TACATACCCTAAAAAAAAGCC 0.363 3 6 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 4 2 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:25310193delA ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA TGAGTCCTCCAAAAAAAACAT 0.473 43 74 --- --- --- --- ARHGAP11A 9824 broad.mit.edu 37 15 32916446 32916446 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:32916446delT ENST00000361627.3 + 4 1092 c.370delT c.(370-372)ttfs p.F125fs ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000567348.1_Frame_Shift_Del_p.F125fs|ARHGAP11A_ENST00000563864.1_Frame_Shift_Del_p.F125fs NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 125 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TCTTAAGCAGTTTTTTAGGGA 0.398 22 19 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 9 294 --- --- --- --- RASGRP1 10125 broad.mit.edu 37 15 38795505 38795505 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:38795505delT ENST00000310803.5 - 11 1573 c.1396delA c.(1396-1398)ccfs p.T466fs RASGRP1_ENST00000450598.2_Intron|RASGRP1_ENST00000558164.1_Intron|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.T517fs|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.T418fs NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 466 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TTGCTAATGGTTTTTGGATCA 0.443 12 16 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62174867 62174868 + Frame_Shift_Ins INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:62174867_62174868insA ENST00000261517.5 - 69 9624_9625 c.9551_9552insT c.(9550-9552)ttcfs p.F3184fs VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.F3184fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3184 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GAATTCCTGATAAAAAGTCTCG 0.371 35 49 --- --- --- --- USP3 9960 broad.mit.edu 37 15 63829242 63829242 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:63829242delA ENST00000268049.7 + 4 429 c.105delA c.(103-105)gcfs p.A35fs USP3_ENST00000540797.1_Intron|USP3_ENST00000539772.1_Intron|USP3_ENST00000536001.1_Frame_Shift_Del_p.A57fs|USP3_ENST00000380324.3_Frame_Shift_Del_p.A57fs|USP3_ENST00000558285.1_Frame_Shift_Del_p.A40fs Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 57 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) ATGGCCATGCAAAAAAACATT 0.299 10 18 --- --- --- --- MTFMT 123263 broad.mit.edu 37 15 65312544 65312544 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:65312544delC ENST00000220058.4 - 5 725 c.712delG c.(712-714)cgfs p.A238fs NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 238 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) CCGTAAGTCGCCCCCTCCATT 0.408 19 35 --- --- --- --- CALML4 91860 broad.mit.edu 37 15 68486389 68486389 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:68486389delA ENST00000448060.2 - 4 525 c.414delT c.(412-414)ttfs p.F138fs CALML4_ENST00000395465.3_3'UTR|RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000467889.1_Frame_Shift_Del_p.F185fs|CALML4_ENST00000540479.1_Frame_Shift_Del_p.F109fs NM_001031733.2 NP_001026903.2 Q96GE6 CALL4_HUMAN calmodulin-like 4 185 EF-hand 3. calcium ion binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 TCTTGTGGATAAATTCATCAT 0.403 40 40 --- --- --- --- UACA 55075 broad.mit.edu 37 15 70959372 70959372 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr15:70959372delT ENST00000322954.6 - 16 3836 c.3651delA c.(3649-3651)aafs p.K1217fs UACA_ENST00000539319.1_Frame_Shift_Del_p.K1108fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K1204fs|UACA_ENST00000560441.1_Frame_Shift_Del_p.K1202fs NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1217 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TAGTCTCTAATTTTTTTAATG 0.348 33 68 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19710892 19710894 + In_Frame_Del DEL CAA CAA - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:19710892_19710894delCAA ENST00000438132.3 + 30 3030_3032 c.2982_2984delCAA c.(2980-2985)cgc>cg p.RN994del C16orf62_ENST00000543152.1_In_Frame_Del_p.RN654del|C16orf62_ENST00000542263.1_In_Frame_Del_p.RN901del|C16orf62_ENST00000448695.1_In_Frame_Del_p.RN755del|C16orf62_ENST00000417362.2_In_Frame_Del_p.RN812del|C16orf62_ENST00000251143.5_In_Frame_Del_p.RN905del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 905 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGGACCTACGCAACAACAAGCTC 0.596 36 70 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21811980 21811980 + RNA DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:21811980delT ENST00000546471.1 - 0 1831 TGCTATACTCTTTTTAAAGCA 0.303 14 21 --- --- --- --- ERN2 10595 broad.mit.edu 37 16 23711986 23711986 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:23711986delG ENST00000256797.4 - 13 1711 c.1543delC c.(1543-1545)tgfs p.L515fs ERN2_ENST00000457008.2_Frame_Shift_Del_p.L415fs NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 467 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCAGGTGCCAGGGGGGTCTCC 0.627 38 64 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27475772 27475772 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:27475772delG ENST00000356183.4 - 34 5756 c.5741delC c.(5740-5742)cafs p.P1914fs GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1914fs NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1914 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTCAAGAGCTGGGGGTGGAGA 0.652 88 169 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30364763 30364763 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:30364763delG ENST00000305596.3 - 5 909 c.734delC c.(733-735)cafs p.P246fs CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.P246fs NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 246 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CAGGGAGGGTGGGGGTGTGGG 0.612 35 75 --- --- --- --- LINC00922 0 broad.mit.edu 37 16 65397265 65397266 + RNA INS - - A TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:65397265_65397266insA ENST00000569736.1 - 0 486 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 TAACTTCAGACAAAAAAATATA 0.436 11 3 --- --- --- --- PDPR 55066 broad.mit.edu 37 16 70190614 70190614 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:70190614delG ENST00000288050.4 + 19 3429 c.2472delG c.(2470-2472)acfs p.T824fs PDPR_ENST00000398122.3_Frame_Shift_Del_p.T724fs|PDPR_ENST00000568530.1_Frame_Shift_Del_p.T824fs|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Frame_Shift_Del_p.T169fs|PDPR_ENST00000567046.1_Frame_Shift_Del_p.T182fs|PDPR_ENST00000562100.1_3'UTR NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 824 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CTGAGGACACGGGGGAAGAGC 0.557 26 122 --- --- --- --- AARS 16 broad.mit.edu 37 16 70288530 70288530 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:70288530delA ENST00000261772.8 - 17 2537 c.2394delT c.(2392-2394)ctfs p.L798fs NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 798 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) CTACCTCTCCAAGGTCAGCGA 0.547 21 43 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682261 85682261 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:85682261delC ENST00000253458.7 + 3 506 c.330delC c.(328-330)gtfs p.V110fs GSE1_ENST00000405402.2_Frame_Shift_Del_p.V6fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.V37fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein CTATCATCGTCCCCCCTGGGG 0.677 78 104 --- --- --- --- KLHDC4 54758 broad.mit.edu 37 16 87788830 87788830 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:87788830delG ENST00000270583.5 - 4 397 c.339delC c.(337-339)ccfs p.P113fs KLHDC4_ENST00000347925.5_Frame_Shift_Del_p.P113fs|KLHDC4_ENST00000353170.5_Frame_Shift_Del_p.P56fs NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 113 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GAGGTGGACTGGGGATGTCAA 0.512 33 48 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89598886 89598886 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr16:89598886delG ENST00000268704.2 + 9 1181 c.1166delG c.(1165-1167)ctfs p.R389fs SPG7_ENST00000341316.2_Frame_Shift_Del_p.R389fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 389 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GGCGCTGCCCGTGTGCGGAGC 0.582 57 103 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:4875738delG ENST00000361571.5 - 15 3005 c.2594delC c.(2593-2595)ctfs p.P865fs CAMTA2_ENST00000358183.4_Frame_Shift_Del_p.P866fs|CAMTA2_ENST00000414043.3_Frame_Shift_Del_p.P889fs|CAMTA2_ENST00000381311.5_Frame_Shift_Del_p.P868fs|CAMTA2_ENST00000348066.3_Frame_Shift_Del_p.P866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Del_p.P871fs NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 866 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CAGAGGTGCAGGGGGGGGACT 0.612 20 23 --- --- --- --- ELAC2 60528 broad.mit.edu 37 17 12897743 12897744 + Splice_Site DEL TG TG - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:12897743_12897744delTG ENST00000338034.4 - 22 2345_2346 c.2108_splice c.e22+1 p.HS702_splice ELAC2_ENST00000426905.3_Splice_Site_p.HS662_splice|ELAC2_ENST00000395962.2_Splice_Site_p.HS683_splice NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 702 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CTTTGCTACCTGTGTGTCTTTT 0.564 157 289 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17698653 17698653 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:17698653delC ENST00000353383.1 + 3 2860 c.2391delC c.(2389-2391)gafs p.D797fs RAI1_ENST00000261641.6_Frame_Shift_Del_p.D797fs NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 797 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AGGAGGAGGACCCCCCTGGGG 0.667 21 34 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988563 + RNA DEL TT TT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:18988562_18988563delTT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTTA 0.277 4 9 --- --- --- --- NLK 51701 broad.mit.edu 37 17 26519194 26519195 + Frame_Shift_Del DEL CT CT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:26519194_26519195delCT ENST00000407008.3 + 10 2202_2203 c.1484_1485delCT c.(1483-1485)cfs p.P495fs NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 495 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AACAGAGTGCCTCTCTGCATCA 0.376 10 12 --- --- --- --- TAF15 8148 broad.mit.edu 37 17 34171886 34171886 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:34171886delG ENST00000588240.1 + 15 1698 c.1583delG c.(1582-1584)cgfs p.R528fs TAF15_ENST00000311979.3_Frame_Shift_Del_p.R525fs|TAF15_ENST00000592237.1_Frame_Shift_Del_p.G334fs NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 528 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) gACAGAAGCCGGGGGGGCTAT 0.612 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 44 63 --- --- --- --- KRT222 125113 broad.mit.edu 37 17 38818272 38818272 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:38818272delT ENST00000476049.1 - 2 162 c.121delA c.(121-123)tgfs p.M41fs KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs Q8N1A0 KT222_HUMAN keratin 222 41 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 TCTTTGTCCATTTTTTTGCTT 0.428 65 97 --- --- --- --- HOXB1 3211 broad.mit.edu 37 17 46607839 46607839 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:46607839delG ENST00000239174.6 - 1 520 c.428delC c.(427-429)ctfs p.P143fs HOXB1_ENST00000577092.1_Frame_Shift_Del_p.P143fs NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 143 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTTCCCATAAGGGGGATGCTG 0.617 27 53 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 48 79 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76425217 76425217 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr17:76425217delG ENST00000389840.5 - 76 12496 c.12372delC c.(12370-12372)ccfs p.P4124fs DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Frame_Shift_Del_p.P4125fs dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTCCAGGTTGGGGGGGATCT 0.582 42 132 --- --- --- --- EPG5 57724 broad.mit.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:43459143delA ENST00000282041.5 - 33 5738 c.5704delT c.(5704-5706)atfs p.Y1902fs EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1902 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CGAAGCTTATAAAAAAAGTCT 0.343 54 61 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67697249 67697249 + Splice_Site DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr18:67697249delT ENST00000255674.6 - 42 6030 c.5745_splice c.e42+1 p.K1915_splice RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1915 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAATGTTACCTTTTTTTTCAA 0.398 57 70 --- --- --- --- TICAM1 148022 broad.mit.edu 37 19 4816465 4816465 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:4816465delG ENST00000248244.5 - 2 2154 c.1925delC c.(1924-1926)cafs p.P644fs NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 644 Pro-rich.|Sufficient to induce apoptosis. Missing (in Ref. 6; AAO85488). apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity p.P643fs*>71(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGAGGGCGGTGGGGGGGTGCC 0.731 20 24 --- --- --- --- SAFB2 9667 broad.mit.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:5587282delG ENST00000252542.4 - 21 3098 c.2834delC c.(2833-2835)cgfs p.P945fs NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 945 Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding p.P945fs*>9(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) gtgggggtacggggggggatg 0.657 9 18 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9062393 9062394 + Frame_Shift_Del DEL TG TG - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:9062393_9062394delTG ENST00000397910.4 - 3 25255_25256 c.25052_25053delCA c.(25051-25053)afs p.T8351fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8353 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCACTGCTGTGTGTGTGGA 0.485 57 88 --- --- --- --- ZNF433 163059 broad.mit.edu 37 19 12127235 12127235 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:12127235delT ENST00000419886.2 - 5 633 c.342delA c.(340-342)aafs p.K114fs CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Frame_Shift_Del_p.K149fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 AGTTGAAAGGTTTTTTACAGT 0.368 61 89 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17039883 17039884 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:17039883_17039884insC ENST00000443236.1 - 24 3184_3185 c.3153_3154insG c.(3151-3156)ggatcafs p.S1052fs NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1005 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.H1052fs*30(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGTTCTGATGCCCCCCCAGGA 0.584 21 27 --- --- --- --- ELL 8178 broad.mit.edu 37 19 18569071 18569073 + In_Frame_Del DEL CTT CTT - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:18569071_18569073delCTT ENST00000262809.4 - 6 882_884 c.811_813delAAG c.(811-813)del p.K271del NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 271 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) CAGGCCAGTCCTTCTGCACATCC 0.601 T MLL AL 30 50 --- --- --- --- WBP7 0 broad.mit.edu 37 19 36229400 36229400 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:36229400delC ENST00000420124.1 + 37 8090 c.8090delC c.(8089-8091)gcfs p.A2697fs KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.A2697fs ATCGAGGATGCCAGCAACAAG 0.617 22 28 --- --- --- --- PAK4 0 broad.mit.edu 37 19 39664268 39664269 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:39664268_39664269insC ENST00000599386.1 + 4 438_439 c.257_258insC c.(256-258)accfs p.T86fs PAK4_ENST00000321944.4_Frame_Shift_Ins_p.T149fs|PAK4_ENST00000358301.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000599470.1_Frame_Shift_Ins_p.T86fs|PAK4_ENST00000593690.1_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000435673.2_Frame_Shift_Ins_p.T239fs NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 239 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) GGCCTGGCCATCCCCCAGTCCT 0.703 19 17 --- --- --- --- DMPK 1760 broad.mit.edu 37 19 46283185 46283185 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:46283185delG ENST00000600757.1 - 1 820 c.133delC c.(133-135)ttfs p.L45fs DMPK_ENST00000291270.4_Intron|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_Frame_Shift_Del_p.L45fs Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 45 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) CTGGAGACAAGGGGGAAAGCC 0.612 14 24 --- --- --- --- ARHGAP35 2909 broad.mit.edu 37 19 47424741 47424741 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:47424741delT ENST00000404338.3 + 1 2809 c.2809delT c.(2809-2811)ttfs p.F938fs NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 938 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CTTTCACCCATTTTTTAAAGA 0.453 77 118 --- --- --- --- RASIP1 54922 broad.mit.edu 37 19 49232773 49232773 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:49232773delC ENST00000222145.4 - 5 1458 c.1254delG c.(1252-1254)ggfs p.G418fs NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 418 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GAGCCGGGGACCCCCCGCGGC 0.657 9 6 --- --- --- --- IL4I1 259307 broad.mit.edu 37 19 50393104 50393104 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:50393104delC ENST00000595948.1 - 10 2213 c.1593delG c.(1591-1593)ggfs p.G531fs IL4I1_ENST00000391826.2_Frame_Shift_Del_p.G509fs|IL4I1_ENST00000341114.3_Frame_Shift_Del_p.G531fs NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 509 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CCGATGCAGGCCCCTTCCGGC 0.687 31 33 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51192558 51192559 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:51192558_51192559insG ENST00000391813.1 - 1 102_103 c.103_104insC c.(103-105)tttfs p.F35fs SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000359082.3_Intron Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1218 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCAGGAGAAATGGGGGGGTGGT 0.589 17 47 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703989 53703990 + RNA INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:53703989_53703990insC ENST00000597550.1 + 0 232 TTGTTCTGTTTCCCCCtttttt 0.470 3 5 --- --- --- --- ZSCAN18 65982 broad.mit.edu 37 19 58596656 58596656 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr19:58596656delG ENST00000240727.6 - 7 1328 c.929delC c.(928-930)ctfs p.P310fs ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 310 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P310fs*119(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGCGTCCCCAGGGGGCGCCTC 0.746 25 30 --- --- --- --- TRIB3 57761 broad.mit.edu 37 20 368784 368784 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:368784delC ENST00000217233.3 + 2 683 c.130delC c.(130-132)ccfs p.P45fs TRIB3_ENST00000422053.2_Frame_Shift_Del_p.P72fs|TRIB3_ENST00000485293.1_3'UTR NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 45 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GCCCAGACTGCCCCCCTGCCT 0.627 15 229 --- --- --- --- SOGA1 140710 broad.mit.edu 37 20 35444375 35444376 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr20:35444375_35444376insC ENST00000237536.4 - 5 1810_1811 c.1469_1470insG c.(1468-1470)gccfs p.A490fs SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.A93fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.A252fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.A252fs NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 252 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GTGCCTCAGGACCCCCACAGCC 0.668 17 35 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33068894 33068896 + In_Frame_Del DEL GGA GGA - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:33068894_33068896delGGA ENST00000286835.7 - 8 1327_1329 c.945_947delTCC c.(943-948)cca>cc p.PP315del SCAF4_ENST00000434667.3_In_Frame_Del_p.PP300del|SCAF4_ENST00000399804.1_In_Frame_Del_p.PP315del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 315 Poly-Pro. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGGTGCCTGTGGAGGAGGAGGAG 0.512 20 38 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47662805 47662805 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr21:47662805delA ENST00000397708.1 - 26 5591 c.5337delT c.(5335-5337)ttfs p.F1779fs MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.F1779fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1779 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.K1780fs*5(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AATCGTTTTTAAAAAAATACA 0.433 45 75 --- --- --- --- TUBA8 51807 broad.mit.edu 37 22 18609160 18609161 + Frame_Shift_Del DEL CA CA - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:18609160_18609161delCA ENST00000330423.3 + 4 488_489 c.415_416delCA c.(415-417)cfs p.H139fs TUBA8_ENST00000316027.6_Frame_Shift_Del_p.H73fs NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 139 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CCTGATTTTCCACAGTTTTGGT 0.520 65 135 --- --- --- --- ZDHHC8 29801 broad.mit.edu 37 22 20130522 20130522 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:20130522delC ENST00000334554.7 + 10 1510 c.1369delC c.(1369-1371)ccfs p.P458fs ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 458 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) TGAGGGGGGGCCCCCCACGCC 0.687 31 26 --- --- --- --- THAP7 80764 broad.mit.edu 37 22 21354970 21354970 + Frame_Shift_Del DEL C C - rs426938 byFrequency TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:21354970delC ENST00000215742.4 - 3 517 c.343delG c.(343-345)ctfs p.A115fs THAP7_ENST00000399133.2_Frame_Shift_Del_p.A115fs NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 115 A -> P (in dbSNP:rs426938). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding p.A115P(1) cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTGACTTCAGCGGGGCCAGGT 0.602 85 120 --- --- --- --- CES5AP1 0 broad.mit.edu 37 22 23712779 23712779 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:23712779delA ENST00000415114.1 - 0 606 CTTAGAGGGGAAAAAAAACCC 0.458 2 4 --- --- --- --- GGT5 2687 broad.mit.edu 37 22 24627387 24627387 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:24627387delC ENST00000327365.4 - 6 1282 c.866delG c.(865-867)gtfs p.G289fs GGT5_ENST00000418439.2_Frame_Shift_Del_p.G212fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.G257fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.G289fs NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 289 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GAGAATGGCACCCCCTGCAGG 0.677 2 4 --- --- --- --- EIF4ENIF1 56478 broad.mit.edu 37 22 31838994 31838994 + Frame_Shift_Del DEL T T - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:31838994delT ENST00000397525.1 - 16 2383 c.2160delA c.(2158-2160)aafs p.K720fs EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.K546fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.K696fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.K720fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.K375fs NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 720 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAAGAGCTGCTTTTCCAGATG 0.463 74 82 --- --- --- --- C22orf24 25775 broad.mit.edu 37 22 32330115 32330117 + In_Frame_Del DEL AGA AGA - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:32330115_32330117delAGA ENST00000248984.3 - 3 636_638 c.470_472delTCT c.(469-474)tcc>t p.FS157del C22orf24_ENST00000543051.1_In_Frame_Del_p.FS224del|C22orf24_ENST00000486651.1_5'UTR NM_015372.1 NP_056187.1 Q9Y442 CV024_HUMAN chromosome 22 open reading frame 24 157 integral to membrane central_nervous_system(1)|urinary_tract(1) 2 CAGGACTCGGAGAAGATGTTGCT 0.571 13 21 --- --- --- --- NPTXR 23467 broad.mit.edu 37 22 39222592 39222592 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:39222592delG ENST00000333039.2 - 3 1134 c.1011delC c.(1009-1011)ccfs p.P337fs NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 337 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) AGTAGGAGAAGGGGGTGCCCT 0.652 68 107 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42606139 42606139 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:42606139delA ENST00000359486.3 - 1 5309 c.5173delT c.(5173-5175)atfs p.Y1725fs TCF20_ENST00000335626.4_Frame_Shift_Del_p.Y1725fs|TCF20_ENST00000404876.1_Frame_Shift_Del_p.Y26fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1725 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTTGGGGATAAAAAGGTCCA 0.502 59 78 --- --- --- --- TTLL8 164714 broad.mit.edu 37 22 50488585 50488585 + Frame_Shift_Del DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:50488585delA ENST00000266182.6 - 2 142 c.143delT c.(142-144)tgfs p.L48fs TTLL8_ENST00000440475.1_Frame_Shift_Del_p.L48fs|TTLL8_ENST00000477219.1_5'UTR tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GACCTTGGGCAAAAAGTGGAA 0.572 20 20 --- --- --- --- ARSA 410 broad.mit.edu 37 22 51065756 51065757 + Frame_Shift_Ins INS - - C rs74315455 TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:51065756_51065757insC ENST00000547307.1 - 2 701_702 c.296_297insG c.(295-297)gctfs p.A99fs ARSA_ENST00000395619.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.A15fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.A99fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.A101fs P15289 ARSA_HUMAN arylsulfatase A 99 G -> D (in MLD; adult type).|G -> V (in MLD; late-infantile form). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CCAGGGGCAGGCCCCCCCGGGA 0.718 8 9 --- --- --- --- SHANK3 85358 broad.mit.edu 37 22 51159932 51159933 + Frame_Shift_Ins INS - - G TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:51159932_51159933insG ENST00000414786.2 + 21 3856_3857 c.3629_3630insG c.(3628-3630)cggfs p.R1210fs SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.R1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.R1226fs F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1240 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCCAGCAGGCTGGGGGGGGCCG 0.718 8 8 --- --- --- --- ACR 49 broad.mit.edu 37 22 51178329 51178330 + Frame_Shift_Ins INS - - C TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chr22:51178329_51178330insC ENST00000216139.5 + 3 529_530 c.489_490insC c.(487-492)ctcccafs p.LP163fs ACR_ENST00000529621.1_Frame_Shift_Ins_p.LP163fs NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 163 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) CGGGCTGCCTGCCCCACTTTAA 0.579 68 93 --- --- --- --- SLC25A6 293 broad.mit.edu 37 X 1508427 1508427 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:1508427delC ENST00000381401.5 - 2 1019 c.305delG c.(304-306)gcfs p.G102fs SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 102 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) CTTGTCCACGCCCCCCAGGAA 0.607 101 189 --- --- --- --- ARSE 415 broad.mit.edu 37 X 2854881 2854883 + In_Frame_Del DEL AGA AGA - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:2854881_2854883delAGA ENST00000545496.1 - 11 1677_1679 c.1386_1388delTCT c.(1384-1389)ctg>ct p.LL462del ARSE_ENST00000540563.1_In_Frame_Del_p.LL392del|ARSE_ENST00000381134.3_In_Frame_Del_p.LL437del P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 437 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAGCAAGGGCAGAAGGTCTTGGC 0.562 20 25 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030467 47030469 + In_Frame_Del DEL GGC GGC - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:47030467_47030469delGGC ENST00000377604.3 + 4 984_986 c.242_244delGGC c.(241-246)agg>a p.RR83del RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 83 Poly-Arg. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding p.R85delR(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACTCAGCGTAGGCGGCGGCGGCG 0.680 26 40 --- --- --- --- GATA1 2623 broad.mit.edu 37 X 48652397 48652397 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:48652397delC ENST00000376670.3 + 6 1179 c.1068delC c.(1066-1068)ggfs p.G356fs GATA1_ENST00000376665.3_Intron NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 356 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 TGACACTGGGCCCCCCAGGTA 0.647 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 7 15 --- --- --- --- TSPYL2 64061 broad.mit.edu 37 X 53111865 53111865 + Frame_Shift_Del DEL G G - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:53111865delG ENST00000375442.4 + 1 317 c.185delG c.(184-186)agfs p.R62fs NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 62 Pro-rich. cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 GCCGATATGAGGGGGGTGGGA 0.726 6 11 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73045718 73045718 + RNA DEL A A - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:73045718delA ENST00000604411.1 + 0 33679 XIST_ENST00000429829.1_lincRNA NR_003255.2 AAACAGGAAGAAAAAAATCAA 0.368 16 31 --- --- --- --- FRMD7 90167 broad.mit.edu 37 X 131212901 131212903 + In_Frame_Del DEL TCC TCC - TCGA-N7-A4Y0-01A-12D-A28R-08 TCGA-N7-A4Y0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffa10f6e-3a4a-42c5-af29-409d32d734f1 14126835-cedc-4c9b-bbb9-8dc9cc5be73e g.chrX:131212901_131212903delTCC ENST00000298542.4 - 12 1317_1319 c.1142_1144delGGA c.(1141-1146)aat>a p.RN381del FRMD7_ENST00000370879.1_In_Frame_Del_p.RN261del|FRMD7_ENST00000464296.1_In_Frame_Del_p.RN366del NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 381 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) aatgcagaattcctcctcctact 0.498 12 298 --- --- --- ---