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 TP73 7161 broad.mit.edu 37 1 3624240 3624240 + Missense_Mutation SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:3624240C>T uc001akp.3 + 3 424 c.314C>T c.(313-315)aCc>aTc p.T105I TP73_uc021ofb.1_Missense_Mutation_p.T105I|TP73_uc021ofc.1_Missense_Mutation_p.T105I|TP73_uc021ofd.1_Missense_Mutation_p.T105I|TP73_uc021ofe.1_Missense_Mutation_p.T105I|TP73_uc021off.1_Missense_Mutation_p.T105I|TP73_uc010nzj.2_Missense_Mutation_p.T56I|TP73_uc021ofg.1_Missense_Mutation_p.T56I|TP73_uc021ofh.1_Missense_Mutation_p.T56I|TP73_uc021ofi.1_Missense_Mutation_p.T56I|TP73_uc001akr.3_Missense_Mutation_p.T56I|TP73_uc009vlk.2_Missense_Mutation_p.T56I|TP73_uc001aks.3_Missense_Mutation_p.T56I|TP73_uc009vll.3_Missense_Mutation_p.T34I|TP73_uc010nzk.2_Missense_Mutation_p.T34I NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 105 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity p.S104F(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CCCAGCTCCACCTTCGACACC 0.672000 36 53 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125863904 125863904 + Silent SNP A A G TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr9:125863904A>G uc011lzh.2 + 24 3083 c.2949A>G c.(2947-2949)aaA>aaG p.K983K RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.K322K NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 983 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GGCGTGTAAAAGGCATAAGCT 0.448000 3 68 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39650419 39650419 + Silent SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr14:39650419T>C uc001wuw.4 + 8 1603 c.1506T>C c.(1504-1506)ccT>ccC p.P502P NM_002687 NP_002678 Q9H307 PININ_HUMAN Homo sapiens pinin, desmosome associated protein (PNN), mRNA. 502 Gln-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) CCTCTCAGCCTGAGGATTTGT 0.517000 3 131 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44515136 44515136 + Silent SNP A A G TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:44515136A>G uc002oyb.1 + 4 1196 c.945A>G c.(943-945)aaA>aaG p.K315K NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN Homo sapiens zinc finger protein 230 (ZNF230), mRNA. 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) AGTGTGGAAAAGGCTTCACTG 0.423000 3 206 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586828 50586828 + Missense_Mutation SNP A A G TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr13:50586828A>G uc001vdp.1 + 3 1179 c.761A>G c.(760-762)cAg>cGg p.Q254R DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.Q251R|TRIM13_uc001vdr.1_Missense_Mutation_p.Q251R|TRIM13_uc001vds.1_Missense_Mutation_p.Q251R|TRIM13_uc021rjq.1_Missense_Mutation_p.Q251R NM_001007278 NP_998755 O60858 TRI13_HUMAN Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA. 251 ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTTCTGCAACAGATGCAGGAG 0.413000 6 127 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69349008 69349008 + Missense_Mutation SNP G G T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr15:69349008G>T uc002ars.2 + 15 2311 c.2270G>T c.(2269-2271)gGc>gTc p.G757V MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G711V|NOX5_uc002arp.2_Missense_Mutation_p.G739V|NOX5_uc010bid.2_Missense_Mutation_p.G722V|NOX5_uc010bie.2_Missense_Mutation_p.G557V|NOX5_uc002arr.2_Missense_Mutation_p.G729V|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 757 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GAGAAGTTCGGCTTCAGATTT 0.517000 48 36 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111625705 111625705 + Splice_Site SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr11:111625705T>C uc001plw.1 - 7 1042 c.958_splice c.e7+1 p.E320_splice PPP2R1B_uc010rwi.1_Splice_Site_p.E256_splice|PPP2R1B_uc001plx.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwk.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwl.1_Splice_Site_p.E193_splice|PPP2R1B_uc010rwj.1_Splice_Site_p.E159_splice NM_181699 NP_859050 P30154 2AAB_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA. 320 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CTCCTTAACCTTTTACTTTGT 0.383000 3 80 0 0 1 0 0 GZMM 3004 broad.mit.edu 37 19 547312 547312 + Missense_Mutation SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:547312C>T uc002low.1 + 1 133 c.88C>T c.(88-90)Cgg>Tgg p.R30W NM_005317 NP_005308 P51124 GRAM_HUMAN Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA. 30 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATCGGGGGCCGGGAGGTGAT 0.647000 78 84 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78097775 78097775 + Missense_Mutation SNP T T A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:78097775T>A uc001dhq.3 - 4 1741 c.1265A>T c.(1264-1266)aAt>aTt p.N422I ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.N422I|ZZZ3_uc001dhp.3_Missense_Mutation_p.N422I NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA. 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TTGACTTACATTATCACTAAC 0.343000 4 86 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55363139 55363139 + Silent SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr16:55363139C>T uc002ehy.3 + 4 1782 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L IRX6_uc002ehx.3_Silent_p.L417L NM_024335 NP_077311 P78412 IRX6_HUMAN Homo sapiens iroquois homeobox 6 (IRX6), mRNA. 417 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CAAGTTTGCCCTGCAGGGACT 0.642000 8 140 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32341114 32341114 + Missense_Mutation SNP G G A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr20:32341114G>A uc002wzy.3 + 4 646 c.626G>A c.(625-627)cGt>cAt p.R209H ZNF341_uc002wzx.3_Missense_Mutation_p.R209H|ZNF341_uc010geq.3_Missense_Mutation_p.R119H|ZNF341_uc010ger.3_Non-coding_Transcript NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCCCCTGGGCGTCCCAACCCT 0.697000 13 10 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151818902 151818902 + Missense_Mutation SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chrX:151818902C>T uc004ffp.1 + 6 780 c.760C>T c.(760-762)Cgc>Tgc p.R254C NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 254 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTACATACGCCTGATACT 0.522000 12 487 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207643143 207643143 + Silent SNP G G A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:207643143G>A uc001hfv.3 + 5 1040 c.921G>A c.(919-921)ccG>ccA p.P307P CR2_uc001hfw.3_Silent_p.P307P|CR2_uc009xch.3_Silent_p.P307P|CR2_uc009xci.1_5'Flank NM_001006658 NP_001006659 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 1, mRNA. 307 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CTTGTGACCCGGACCCAGAGG 0.488000 4 98 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88441198 88441198 + Silent SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr10:88441198C>T uc010qmm.2 + 4 472 c.327C>T c.(325-327)ccC>ccT p.P109P LDB3_uc010qml.1_Silent_p.P109P|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron|LDB3_uc001kdv.3_Silent_p.P109P|LDB3_uc001kdr.3_Intron|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P109P|LDB3_uc001kds.3_Silent_p.P109P NM_001171610 NP_001165081 O75112 LDB3_HUMAN Homo sapiens LIM domain binding 3 (LDB3), transcript variant 5, mRNA. 109 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GCCAGGACCCCGCTCTGGACA 0.677000 4 183 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687520 109687520 + Missense_Mutation SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr9:109687520T>C uc004bcz.3 + 2 1616 c.1327T>C c.(1327-1329)Ttt>Ctt p.F443L MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.F291L|ZNF462_uc004bda.3_Missense_Mutation_p.F291L NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 443 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCAGTGCCCCTTTTGTCCTTT 0.463000 3 126 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88911225 88911225 + Missense_Mutation SNP A A T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr10:88911225A>T uc001kei.4 + 2 228 c.114A>T c.(112-114)aaA>aaT p.K38N NM_019054 NP_061927 Q86V20 FA35A_HUMAN Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA. 38 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 CCTGGAAAAAAATTCAGCTTT 0.373000 21 16 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77740543 77740543 + Missense_Mutation SNP A A T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr13:77740543A>T uc021rks.1 - 40 6528 c.6261T>A c.(6259-6261)caT>caA p.H2087Q MYCBP2_uc010aev.3_Missense_Mutation_p.H1453Q NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 2049 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) TAAGATTTTCATGAACAGATG 0.383000 5 72 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36206734 36206734 + Splice_Site SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:36206734T>C uc002oay.3 + 3 1165 c.955_splice c.e3+2 p.G319_splice ZBTB32_uc002oaz.3_Intron|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA. 319 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTACCCCAGGTAAGCCCCTCG 0.617000 3 84 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46815428 46815428 + Missense_Mutation SNP G G T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:46815428G>T uc002peh.3 + 6 812 c.781G>T c.(781-783)Gtg>Ttg p.V261L HIF3A_uc002pef.2_Missense_Mutation_p.V261L|HIF3A_uc002peg.4_Missense_Mutation_p.V261L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.V205L|HIF3A_uc002pej.2_Missense_Mutation_p.V192L|HIF3A_uc010xxy.2_Missense_Mutation_p.V192L|HIF3A_uc002pel.3_Missense_Mutation_p.V259L|HIF3A_uc010xxz.2_Missense_Mutation_p.V210L NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 261 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.A260T(1)|p.G261D(1) 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) GATTGCAGAAGTGGCTGGCTA 0.592000 9 241 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134072405 134072408 + Frame_Shift_Del DEL TTTC TTTC - TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr8:134072405_134072408delTTTC uc011ljd.2 - 0 196_199 c.118_121delGAAA c.(118-123)gaaatgfs p.E40fs TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Start_Codon_Del|SLA_uc011lje.2_Frame_Shift_Del_p.E17fs|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Frame_Shift_Del_p.E17fs|SLA_uc010mdy.1_Start_Codon_Del|SLA_uc010mdz.1_Start_Codon_Del|SLA_uc010mea.2_Non-coding_Transcript NM_006748 NP_006739 Q13239 SLAP1_HUMAN Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA. 0 SH3. endosome SH3/SH2 adaptor activity p.P40H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) CTGTTTCCCATTTCTTTCTTTTTC 0.578 55 83 --- --- --- ---