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 ZNF90 7643 broad.mit.edu 37 19 20236262 20236262 + RNA SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr19:20236262C>T uc021url.1 + 2 c.686C>T Q03938 ZNF90_HUMAN Homo sapiens zinc finger protein 90 (ZNF90), mRNA. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 GGTCCTGGTGCCCGTGCTTGC 0.458000 3 39 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74392381 74392381 + Missense_Mutation SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr17:74392381C>T uc002jrm.4 - 13 2702 c.2637G>A c.(2635-2637)atG>atA p.M879I UBE2O_uc002jrn.4_Missense_Mutation_p.M879I|UBE2O_uc002jrl.4_Missense_Mutation_p.M483I NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 879 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GCACTGCTTCCATCTTCTCCT 0.562000 15 190 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153001964 153001964 + Nonsense_Mutation SNP C C T rs128624221 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chrX:153001964C>T uc004fif.2 + 3 1789 c.1390C>T c.(1390-1392)Cga>Tga p.R464* NM_000033 NP_000024 P33897 ABCD1_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA. 464 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTGAAGATCCGAGGTAAGGC 0.657000 3 20 0 0 1 0 0 PLAC1 10761 broad.mit.edu 37 X 133700185 133700185 + Silent SNP G G T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chrX:133700185G>T uc004exo.1 - 2 814 c.528C>A c.(526-528)gtC>gtA p.V176V PLAC1_uc004exp.1_Silent_p.V176V|PLAC1_uc022cei.1_Silent_p.V176V NM_021796 NP_068568 Q9HBJ0 PLAC1_HUMAN Homo sapiens placenta-specific 1 (PLAC1), mRNA. 176 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GGTGACAAGGGACCTGGGTAT 0.488000 5 95 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856728 54856728 + Missense_Mutation SNP C C A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr2:54856728C>A uc002rxu.3 + 13 2706 c.2457C>A c.(2455-2457)gaC>gaA p.D819E SPTBN1_uc002rxv.1_Missense_Mutation_p.D819E|SPTBN1_uc002rxx.3_Missense_Mutation_p.D806E NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 819 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGTCTCCAGACGTGAGGGGCA 0.637000 28 45 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 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 35 47 0 0 1 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67201890 67201890 + Missense_Mutation SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr11:67201890C>T uc001old.3 + 12 1172 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W RPS6KB2_uc021qmi.1_Missense_Mutation_p.R87W NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA. 364 AGC-kinase C-terminal. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CCGCTTCACACGGCAGACGCC 0.642000 5 51 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111434693 111434693 + Missense_Mutation SNP A A G TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr4:111434693A>G uc003iab.4 + 6 1773 c.1431A>G c.(1429-1431)atA>atG p.I477M NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 477 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTGATGGAATATCCTATAGCA 0.353000 45 56 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132573 11132573 + Missense_Mutation SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr19:11132573C>T uc010dxo.3 + 18 3073 c.2789C>T c.(2788-2790)cCc>cTc p.P930L SMARCA4_uc010dxp.3_Missense_Mutation_p.P930L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P930L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P930L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P930L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P930L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P930L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P930L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P150L|SMARCA4_uc002mqh.4_Missense_Mutation_p.P53L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P133L NM_001128849 NP_001122321 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 1, mRNA. 930 Helicase ATP-binding. chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTCCTGCTGCCCACCATCTTC 0.612000 """F, N, Mis""" NSCLC 3 46 0 0 1 0 0 DTYMK 1841 broad.mit.edu 37 2 242617953 242617953 + Missense_Mutation SNP G G T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr2:242617953G>T uc002wbz.2 - 3 627 c.442C>A c.(442-444)Cat>Aat p.H148N DTYMK_uc010zpa.2_Missense_Mutation_p.H124N|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank NM_012145 NP_036277 P23919 KTHY_HUMAN Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA. 148 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity NS(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TAGCGCTCATGGCCAAACGCT 0.577000 33 45 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 679033 679033 + Missense_Mutation SNP G G A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr17:679033G>A uc002frv.3 - 4 509 c.433C>T c.(433-435)Cgc>Tgc p.R145C GLOD4_uc002frt.3_Missense_Mutation_p.R74C|GLOD4_uc002fru.3_Missense_Mutation_p.R130C|GLOD4_uc010vqc.2_Missense_Mutation_p.R121C NM_016080 NP_057164 Q9HC38 GLOD4_HUMAN Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA. 145 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GGCAGACTGCGATTCTGCAAA 0.483000 22 62 0 0 1 0 0