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 USP37 57695 broad.mit.edu 37 2 219346911 219346911 + Missense_Mutation SNP A A T TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr2:219346911A>T uc010fvs.1 - 16 2130 c.1717T>A c.(1717-1719)Tcg>Acg p.S573T USP37_uc002vie.2_Missense_Mutation_p.S573T|USP37_uc010zkf.1_Missense_Mutation_p.S573T|USP37_uc002vif.2_Missense_Mutation_p.S573T|USP37_uc002vig.2_Missense_Mutation_p.S501T NM_020935 NP_065986 Q86T82 UBP37_HUMAN Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA. 573 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTGTTAAGCGAGAGAGCCACA 0.388000 5 143 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324703 3324703 + Missense_Mutation SNP A A G TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:3324703A>G uc010vrd.2 + 0 842 c.842A>G c.(841-843)aAg>aGg p.K281R NM_012373 NP_036505 P47888 OR3A3_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 GACAAGGATAAGGGGGTTGGG 0.507000 3 193 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73043035 73043035 + RNA SNP T T C TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chrX:73043035T>C uc004ebn.2 + 0 c.30996T>C XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. CCCTGAGCCCTTTTATCAGTC 0.333000 2 6 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2222329 2222329 + Missense_Mutation SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr19:2222329G>A uc002lvb.4 + 23 3197 c.3161G>A c.(3160-3162)gGc>gAc p.G1054D DOT1L_uc002lvc.1_Missense_Mutation_p.G348D|DOT1L_uc002lve.1_3'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1054 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) 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) ACTGGTGCGGGCAGTGCCAAG 0.667000 3 47 0 0 1 0 0 AKIRIN2 55122 broad.mit.edu 37 6 88385612 88385612 + Silent SNP T T C TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr6:88385612T>C uc003pmk.3 - 3 1150 c.567A>G c.(565-567)caA>caG p.Q189Q NM_018064 NP_060534 Q53H80 AKIR2_HUMAN Homo sapiens akirin 2 (AKIRIN2), mRNA. 189 innate immune response|transcription, DNA-dependent transcriptional repressor complex large_intestine(4) 4 GTCGCATTATTTGATCATGCG 0.323000 3 67 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 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 25 59 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981586 92981586 + Silent SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr15:92981586G>A uc002bra.3 + 3 449 c.294G>A c.(292-294)aaG>aaA p.K98K ST8SIA2_uc002brb.3_Silent_p.K77K NM_006011 NP_006002 Q92186 SIA8B_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA. 98 N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.R97G(1) endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TTCACAGGAAGCAGATTTTAA 0.488000 4 208 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35396935 35396935 + Splice_Site SNP G G A TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr9:35396935G>A uc003zwr.3 + 27 3577 c.3285_splice c.e27+1 p.G1095_splice UNC13B_uc003zwq.3_Splice_Site_p.G1095_splice NM_006377 NP_006368 O14795 UN13B_HUMAN Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA. 1095 MHD1. excretion|induction of apoptosis|intracellular signal transduction Golgi apparatus|cell junction|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GAAGGATGGAGTAAGTCAGGG 0.552000 4 171 0 0 1 0 0 GDPD1 284161 broad.mit.edu 37 17 57298002 57298002 + Missense_Mutation SNP C C T TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr17:57298002C>T uc002ixk.2 + 0 175 c.32C>T c.(31-33)tCt>tTt p.S11F GDPD1_uc002ixj.3_Missense_Mutation_p.S11F|GDPD1_uc021uas.1_Missense_Mutation_p.S11F NM_182569 NP_872375 Q8N9F7 GDPD1_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA. 11 glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TACCTTCTCTCTACGCTAGGA 0.532000 OREG0024617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 115 0 0 1 0 0 GDF6 392255 broad.mit.edu 37 8 97157245 97157245 + Frame_Shift_Del DEL G G - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr8:97157245delG uc003yhp.3 - 1 1014 c.914delC c.(913-915)ccgfs p.P305fs NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN Homo sapiens growth differentiation factor 6 (GDF6), mRNA. 305 BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) gcccgcgcccgggcccgcAGC 0.776 2 4 --- --- --- --- TXNRD1 7296 broad.mit.edu 37 12 104651840 104651840 + Frame_Shift_Del DEL T T - TCGA-E3-A3E2-01A-11D-A20C-08 TCGA-E3-A3E2-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7adbf25b-0508-4625-9781-8fd3d054814e 6783d5e4-0cf6-4fdf-af00-edcb75c87770 g.chr12:104651840delT uc021rcx.1 + 2 309 c.287delT c.(286-288)cttfs p.L96fs TXNRD1_uc001tkm.1_Frame_Shift_Del_p.L99fs NM_001093771 Q16881 TRXR1_HUMAN Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA. 96 Glutaredoxin. cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TATTTTGTGCTTGAACTTGAT 0.308 2 4 --- --- --- ---