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 IGF1R 3480 broad.mit.edu 37 15 99486194 99486194 + Missense_Mutation SNP G G A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr15:99486194G>A ENST00000268035.6 + 19 4111 c.3500G>A c.(3499-3501)cGg>cAg p.R1167Q IGF1R_ENST00000558762.1_Missense_Mutation_p.R1166Q NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1167 Protein kinase. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GACTATTACCGGAAAGGAGGG 0.537000 4 71 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19615030 19615030 + Silent SNP A A C rs150259165 by1000genomes TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:19615030A>C ENST00000361640.4 - 1 714 c.174T>G c.(172-174)ctT>ctG p.L58L NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 58 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGCCGCCAAGGATGGTCT 0.697000 3 17 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 3 14 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14284285 14284285 + RNA SNP C C G TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:14284285C>G ENST00000310358.7 + 0 2559 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ACCGAGTGGTCCCAGTGGTCG 0.517000 5 15 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14284282 14284282 + RNA SNP G G T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:14284282G>T ENST00000310358.7 + 0 2556 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CTCACCGAGTGGTCCCAGTGG 0.517000 5 16 0.0293803 0.0293803 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29633906 29633906 + Missense_Mutation SNP A A T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr20:29633906A>T ENST00000278882.3 + 9 925 c.545A>T c.(544-546)aAt>aTt p.N182I FRG1B_ENST00000358464.4_Missense_Mutation_p.N182I endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAGAACCAAATTGAAAGCCG 0.264000 3 58 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 15 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36823840 36823840 + Splice_Site SNP C C T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:36823840C>T ENST00000359297.2 - 3 349 c.342_splice c.e3+1 p.Q114_splice STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Splice_Site_p.Q119_splice|STK40_ENST00000373132.3_Splice_Site_p.Q114_splice|STK40_ENST00000373129.3_Splice_Site_p.Q114_splice Q8N2I9 STK40_HUMAN serine/threonine kinase 40 114 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) GGCCGCTCACCTGGAAGAGGC 0.647000 6 20 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7373788 7373788 + Nonsense_Mutation SNP C C A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr6:7373788C>A ENST00000502583.1 - 5 1828 c.1264G>T c.(1264-1266)Gaa>Taa p.E422* CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422* NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 422 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) ATGTACCTTTCCTGTAAACAC 0.343000 6 37 1.6384e-10 1.87246e-10 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 29 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 142 0 0 1 0 0 TAF9 6880 broad.mit.edu 37 5 68661172 68661172 + Silent SNP A A C TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr5:68661172A>C ENST00000328663.4 - 3 859 c.393T>G c.(391-393)tcT>tcG p.S131S TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Silent_p.S131S|TAF9_ENST00000506736.1_Silent_p.S131S NM_001015892.1 NP_001015892.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 0 Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) TTTTCTGTAAAGATTTCAGCC 0.443000 9 165 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16456249 16456249 + Missense_Mutation SNP T T C TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr17:16456249T>C ENST00000395824.1 - 6 1824 c.1207A>G c.(1207-1209)Aaa>Gaa p.K403E ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E Q9HBT7 ZN287_HUMAN zinc finger protein 287 396 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CTAAACTCTTTCCCACATTCT 0.428000 14 90 0 0 1 0 0 FADD 8772 broad.mit.edu 37 11 70052302 70052302 + Missense_Mutation SNP G G C TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:70052302G>C ENST00000301838.4 + 2 647 c.350G>C c.(349-351)cGt>cCt p.R117P NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 117 Death. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGGCTGGCTCGTCAGCTCAAA 0.498000 5 11 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19615023 19615023 + Silent SNP G G A rs115242113 by1000genomes TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:19615023G>A ENST00000361640.4 - 1 721 c.181C>T c.(181-183)Ctg>Ttg p.L61L NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 61 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity p.L61L(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGGAGCCCCAGGCCGCCAAGG 0.692000 4 15 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440082 124440082 + Missense_Mutation SNP C C T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr11:124440082C>T ENST00000284287.3 + 1 190 c.118C>T c.(118-120)Ctc>Ttc p.L40F NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GAGAGCAGACCTCCAGCTCCC 0.527000 23 13 0 0 1 0 0 FAM107A 11170 broad.mit.edu 37 3 58552410 58552410 + Missense_Mutation SNP G G A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr3:58552410G>A ENST00000394481.1 - 5 898 c.340C>T c.(340-342)Cca>Tca p.P114S FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000447756.2_Missense_Mutation_p.P142S|FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S NM_007177.2 NP_009108.1 O95990 F107A_HUMAN family with sequence similarity 107, member A 114 regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) TCCTTCTCTGGTGGTTTTTCC 0.537000 13 43 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1421933 1421933 + Missense_Mutation SNP C C A TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:1421933C>A ENST00000308647.7 + 11 1215 c.1099C>A c.(1099-1101)Ctg>Atg p.L367M NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 367 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAAACTCGCCCTGCACTCAGG 0.617000 6 36 6.40141e-05 6.67973e-05 1 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8215743 8215743 + Missense_Mutation SNP C C T TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr17:8215743C>T ENST00000361926.3 + 2 496 c.386C>T c.(385-387)aCg>aTg p.T129M ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 129 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TCACCCTGCACGCCTCTGCTC 0.672000 10 61 0 0 1 0 0 FAM131C 348487 broad.mit.edu 37 1 16385168 16385169 + Frame_Shift_Ins INS - - G TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr1:16385168_16385169insG ENST00000375662.4 - 7 789_790 c.606_607insC c.(604-609)cccacafs p.T203fs FAM131C_ENST00000494078.1_5'UTR NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C 203 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TCATCCTGTGAGGGGCCGCTGG 0.653 2 4 --- --- --- --- SULT1E1 6783 broad.mit.edu 37 4 70713495 70713496 + Frame_Shift_Del DEL CA CA - TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr4:70713495_70713496delCA ENST00000226444.3 - 6 623_624 c.511_512delTG c.(511-513)gfs p.W171fs NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 171 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 ATGTTTATACCAGGAACCATAA 0.366 8 111 --- --- --- --- JMJD8 339123 broad.mit.edu 37 16 733880 733880 + Frame_Shift_Del DEL T T - TCGA-S7-A7WQ-01A-12D-A35I-08 TCGA-S7-A7WQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26df2cdd-832c-42bf-9238-8e6ab68e05bd 9bfbaaff-29f2-4e99-8004-e96622a04dbb g.chr16:733880delT ENST00000293882.4 - 3 415 c.416delA c.(415-417)cgfs p.Q139fs JMJD8_ENST00000562824.1_Frame_Shift_Del_p.Q39fs|JMJD8_ENST00000562111.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000454700.1_Frame_Shift_Del_p.Q109fs|JMJD8_ENST00000412368.2_Frame_Shift_Del_p.Q90fs Q96S16 JMJD8_HUMAN jumonji domain containing 8 139 breast(1) 1 CGTGAGTCCCTGCAGGATGAC 0.741 2 4 --- --- --- ---