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 VPS13D 55187 broad.mit.edu 37 1 12333082 12333082 + Missense_Mutation SNP T T A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr1:12333082T>A ENST00000358136.3 + 18 2256 c.2126T>A c.(2125-2127)gTg>gAg p.V709E VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 709 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGATGGACCGTGCGGCTGGAT 0.428 18 66 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179594623 179594623 + Missense_Mutation SNP A A T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr2:179594623A>T ENST00000589042.1 - 63 18581 c.18357T>A c.(18355-18357)aaT>aaA p.N6119K TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5802 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGACTGTCCATTCCTCAGCA 0.383 10 9 --- --- --- --- SATB2 23314 broad.mit.edu 37 2 200233398 200233398 + Nonsense_Mutation SNP A A T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr2:200233398A>T ENST00000443023.1 - 5 1918 c.453T>A c.(451-453)taT>taA p.Y151* SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210* Q9UPW6 SATB2_HUMAN SATB homeobox 2 210 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CATTGGCATAATATGTGCTAT 0.318 31 41 --- --- --- --- WDR49 151790 broad.mit.edu 37 3 167249006 167249006 + Missense_Mutation SNP G G C TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr3:167249006G>C ENST00000308378.3 - 9 1364 c.1059C>G c.(1057-1059)gaC>gaG p.D353E WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 353 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGGTAGAATGGTCTGCCATGG 0.438 4 75 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 16019994 16019994 + Silent SNP G G A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr4:16019994G>A ENST00000505450.1 - 8 1539 c.927C>T c.(925-927)agC>agT p.S309S PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000502943.1_5'UTR NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 318 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 ACAATCTGATGCTGTTGCAGG 0.537 17 29 --- --- --- --- IRF4 3662 broad.mit.edu 37 6 397164 397164 + Silent SNP G G A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr6:397164G>A ENST00000380956.4 + 5 675 c.549G>A c.(547-549)ccG>ccA p.P183P IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 183 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) ACTACGTCCCGGATCAGCCAC 0.562 T IGH@ MM 50 60 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113358324 113358324 + Splice_Site SNP A A G TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr8:113358324A>G ENST00000297405.5 - 41 6687 c.e41+1 CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAATACACATACCAAAACCTA 0.333 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 102 --- --- --- --- TAF2 6873 broad.mit.edu 37 8 120756627 120756627 + Missense_Mutation SNP T T C TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr8:120756627T>C ENST00000378164.2 - 24 3413 c.3115A>G c.(3115-3117)Agt>Ggt p.S1039G NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 1039 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TCTTGAGAACTGGAAAACTAA 0.393 5 193 --- --- --- --- NTNG2 84628 broad.mit.edu 37 9 135102298 135102298 + Missense_Mutation SNP G G T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr9:135102298G>T ENST00000393229.3 + 4 1696 c.920G>T c.(919-921)tGc>tTc p.C307F NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 307 Laminin EGF-like 1. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CAGTGCGAGTGCGAGCACAAC 0.657 5 10 --- --- --- --- ADAMTS13 11093 broad.mit.edu 37 9 136323143 136323143 + Missense_Mutation SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr9:136323143C>T ENST00000371929.3 + 28 4448 c.4004C>T c.(4003-4005)gCa>gTa p.A1335V ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1335 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding p.A1335G(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCTCCGCACGCACGGATTGCC 0.622 12 27 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64958388 64958388 + Silent SNP A A G TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr10:64958388A>G ENST00000399262.2 - 12 5594 c.5376T>C c.(5374-5376)ttT>ttC p.F1792F JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.F1610F|JMJD1C_ENST00000402544.1_Silent_p.F1573F NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1792 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CATCATCTTCAAAATTTTCAT 0.323 5 119 --- --- --- --- C10orf118 55088 broad.mit.edu 37 10 115922869 115922869 + Missense_Mutation SNP T T A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr10:115922869T>A ENST00000369287.3 - 2 425 c.159A>T c.(157-159)ttA>ttT p.L53F C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 53 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TAGGTTGACATAAAGTTTTAT 0.363 45 69 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46898339 46898339 + Missense_Mutation SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr11:46898339C>T ENST00000378623.1 - 24 3562 c.3320G>A c.(3319-3321)cGt>cAt p.R1107H NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1107 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) CAGATTGGCACGACTGATCCT 0.567 8 115 --- --- --- --- ATM 472 broad.mit.edu 37 11 108175442 108175442 + Missense_Mutation SNP T T A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr11:108175442T>A ENST00000278616.4 + 37 5922 c.5537T>A c.(5536-5538)aTt>aAt p.I1846N ATM_ENST00000452508.2_Missense_Mutation_p.I1846N NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1846 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 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) CCATACTTGATTCATGATATT 0.338 """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) 17 24 --- --- --- --- SLC37A4 2542 broad.mit.edu 37 11 118899962 118899962 + Missense_Mutation SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr11:118899962C>T ENST00000545985.1 - 3 874 c.118G>A c.(118-120)Gaa>Aaa p.E40K SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 40 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGGATCTCTTCCACCAATGAT 0.507 9 15 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71267477 71267477 + Missense_Mutation SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr14:71267477C>T ENST00000554752.2 - 2 726 c.727G>A c.(727-729)Gtg>Atg p.V243M MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 243 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCCAATTCACCAGGATGTCT 0.493 31 34 --- --- --- --- ABCA9 10350 broad.mit.edu 37 17 67008130 67008130 + Missense_Mutation SNP A A G rs144122311 TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr17:67008130A>G ENST00000340001.4 - 23 3345 c.3134T>C c.(3133-3135)aTt>aCt p.I1045T ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1045 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GTAGTCACCAATGCTGCTCAT 0.403 3 63 --- --- --- --- ABHD8 79575 broad.mit.edu 37 19 17405642 17405642 + Silent SNP G G A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr19:17405642G>A ENST00000247706.3 - 3 1013 c.774C>T c.(772-774)tgC>tgT p.C258C MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 258 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CCAGGAATGTGCAGAAAGAGA 0.532 3 21 --- --- --- --- ZNF285 26974 broad.mit.edu 37 19 44891888 44891888 + Missense_Mutation SNP C C A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr19:44891888C>A ENST00000330997.4 - 4 583 c.519G>T c.(517-519)gaG>gaT p.E173D ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TGTACAATTTCTCTTCCATGT 0.478 5 132 --- --- --- --- LIG1 3978 broad.mit.edu 37 19 48636261 48636261 + Missense_Mutation SNP T T C TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr19:48636261T>C ENST00000263274.7 - 18 2122 c.1703A>G c.(1702-1704)aAa>aGa p.K568R LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 568 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCCGTCATATTTGTATTCGCA 0.572 Nucleotide excision repair (NER) 7 197 --- --- --- --- ZNF548 147694 broad.mit.edu 37 19 57908537 57908537 + Missense_Mutation SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr19:57908537C>T ENST00000366197.5 + 2 387 c.137C>T c.(136-138)tCa>tTa p.S46L AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTTTGTCCTCACTAGGTAAG 0.542 129 219 --- --- --- --- ADAMTS5 11096 broad.mit.edu 37 21 28338099 28338099 + Silent SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr21:28338099C>T ENST00000284987.5 - 1 733 c.612G>A c.(610-612)ccG>ccA p.P204P NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 204 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGGCGCGCGGCGGCAGGGCCT 0.716 4 6 --- --- --- --- EVA1C 59271 broad.mit.edu 37 21 33887452 33887452 + Silent SNP C C T TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr21:33887452C>T ENST00000300255.2 + 8 1751 c.1278C>T c.(1276-1278)aaC>aaT p.N426N EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000382699.3_Silent_p.N423N NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) TATGGATGAACAGTGGTTTGG 0.463 5 89 --- --- --- --- YY2 404281 broad.mit.edu 37 X 21875524 21875524 + Missense_Mutation SNP G G A TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chrX:21875524G>A ENST00000429584.2 + 1 1420 c.922G>A c.(922-924)Gag>Aag p.E308K MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 308 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CCACACCGGCGAGAAGCCCTT 0.542 121 19 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32634331 32634333 + In_Frame_Del DEL AGA AGA - TCGA-M7-A725-01A-12D-A32B-08 TCGA-M7-A725-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2fc15245-4b29-4381-929e-2e40cf170982 9b19febe-309d-4958-8102-f0fc7490dabb g.chr9:32634331_32634333delAGA ENST00000242310.4 - 1 1334_1336 c.1245_1247delTCT c.(1243-1248)cttctg>ctg p.415_416LL>L RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 415 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTCGTCAGCCAGAAGATCAGTGC 0.433 7 316 --- --- --- ---