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 HIF3A 64344 broad.mit.edu 37 19 46825036 46825036 + Missense_Mutation SNP C C T TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr19:46825036C>T uc002peh.3 + 9 1179 c.1148C>T c.(1147-1149)aCc>aTc p.T383I HIF3A_uc002peg.4_Missense_Mutation_p.T383I|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.T327I|HIF3A_uc002pej.2_Missense_Mutation_p.T314I|HIF3A_uc010xxy.2_Missense_Mutation_p.T314I|HIF3A_uc002pel.3_Missense_Mutation_p.T381I|HIF3A_uc010xxz.2_Missense_Mutation_p.T332I NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.G383C(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) CCTGCAGACACCCCTGGCCCC 0.662000 38 93 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861326 55861326 + Silent SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr11:55861326A>G uc010rix.2 + 0 543 c.543A>G c.(541-543)acA>acG p.T181T NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTGACACCACAGCTCTTTTAG 0.433000 4 105 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50005666 50005666 + Missense_Mutation SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr3:50005666A>G uc003cyc.3 + 2 1056 c.808A>G c.(808-810)Agg>Ggg p.R270G RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 270 RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TCAGGATTTTAGGGGCAGAGA 0.453000 3 78 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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 p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) 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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 8 47 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101847718 101847718 + Silent SNP G G A TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr7:101847718G>A uc003uys.4 + 18 3115 c.2988G>A c.(2986-2988)ccG>ccA p.P996P CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P985P NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 985 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGTCCCGACCGAAGCCATGGA 0.622000 7 108 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112469364 112469364 + Missense_Mutation SNP T T A TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr6:112469364T>A uc003pvu.2 - 17 2657 c.2348A>T c.(2347-2349)gAt>gTt p.D783V LAMA4_uc003pvv.2_Missense_Mutation_p.D776V|LAMA4_uc003pvt.2_Missense_Mutation_p.D776V NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 783 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GATACCTGCATCCCTAGCAGA 0.393000 17 40 0 0 1 0 0 FZD3 7976 broad.mit.edu 37 8 28409258 28409258 + Missense_Mutation SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr8:28409258A>G uc003xgx.3 + 5 2072 c.1543A>G c.(1543-1545)Agg>Ggg p.R515G FZD3_uc010lvb.3_Missense_Mutation_p.R515G NM_017412 NP_665873 Q9NPG1 FZD3_HUMAN Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA. 515 G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|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) TCATGGTCGTAGGAAAAAAGA 0.358000 3 43 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153719545 153719545 + Splice_Site SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr1:153719545A>G uc009wom.3 + 5 653 c.432_splice c.e5+1 p.Q144_splice INTS3_uc001fct.3_Splice_Site_p.Q144_splice|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN Homo sapiens integrator complex subunit 3 (INTS3), mRNA. 144 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing SOSS complex|integrator complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCCGTACTCAGGTAAGGCCA 0.463000 4 76 0 0 1 0 0