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 KLHL8 57563 broad.mit.edu 37 4 88106900 88106900 + Missense_Mutation SNP G G A TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr4:88106900G>A ENST00000273963.5 - 3 609 c.268C>T c.(268-270)Ccc>Tcc p.P90S KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.P90S|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 90 BTB. breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CTAAAGTAGGGAATAACACAA 0.373000 6 26 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16990602 16990602 + Missense_Mutation SNP C C T rs145880377 TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr10:16990602C>T ENST00000377833.4 - 35 5149 c.5084G>A c.(5083-5085)cGt>cAt p.R1695H NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1695 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCACAGTAACGGCCTAAATA 0.473000 3 35 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 42 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221299 44221299 + Silent SNP C C T rs143048794 byFrequency TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr6:44221299C>T ENST00000371554.1 + 12 2353 c.2139C>T c.(2137-2139)ggC>ggT p.G713G HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 713 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.G713G(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTCTCGAGGGCGATGAGGATG 0.498000 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 72 0 0 1 0 0 MIR520B 0 broad.mit.edu 37 19 54204492 54204492 + RNA SNP G G A TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr19:54204492G>A ENST00000384989.1 + 0 12 NR_030195.1 CCTCTACAGGGAAGCGCTTTC 0.418000 4 69 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr1:182812436T>G ENST00000367549.3 + 3 229 c.119T>G c.(118-120)gTg>gGg p.V40G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.V40G(8) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGGTTCAGGTGGAAGGTTAT 0.333000 11 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 23 80 0 0 1 0 0 NAA16 79612 broad.mit.edu 37 13 41949684 41949684 + Silent SNP T T G TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr13:41949684T>G ENST00000379406.3 + 20 2865 c.2541T>G c.(2539-2541)ccT>ccG p.P847P NAA16_ENST00000497143.1_3'UTR NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 847 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TCGACAATCCTAATGTGGCAC 0.393000 32 91 0 0 1 0 0 RPS10P7 0 broad.mit.edu 37 1 201489565 201489565 + RNA SNP C C T rs4345829 by1000genomes TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr1:201489565C>T ENST00000441932.1 + 0 1735 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 TACCTACAAACGGAGTGCTGT 0.572000 4 67 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559772 46559772 + Silent SNP A A G TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr13:46559772A>G ENST00000242848.4 - 10 1728 c.1380T>C c.(1378-1380)gaT>gaC p.D460D ZC3H13_ENST00000282007.3_Silent_p.D460D Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 460 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TATCTCTGGCATCTCTCCGAT 0.488000 10 215 0 0 1 0 0 C14orf183 196913 broad.mit.edu 37 14 50550617 50550617 + Missense_Mutation SNP C C T TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr14:50550617C>T ENST00000305273.1 - 5 726 c.727G>A c.(727-729)Ggt>Agt p.G243S RP11-58E21.5_ENST00000556019.2_lincRNA NM_001014830.1 NP_001014830.1 Q8WXQ3 CN183_HUMAN chromosome 14 open reading frame 183 243 endometrium(2)|large_intestine(2)|lung(3) 7 CCACCAACACCGCACCCACCT 0.677000 3 29 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85478621 85478621 + Missense_Mutation SNP G G A TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr15:85478621G>A ENST00000394573.1 + 15 1655 c.1453G>A c.(1453-1455)Gta>Ata p.V485I SLC28A1_ENST00000286749.3_Missense_Mutation_p.V485I|SLC28A1_ENST00000537216.1_Missense_Mutation_p.V485I|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.V485I NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 485 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTGCCCAGTGGTAGCTGAGCT 0.597000 28 79 0 0 1 0 0 AACSP1 0 broad.mit.edu 37 5 178213643 178213643 + RNA DEL T T - rs111517974 TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr5:178213643delT ENST00000503486.2 - 0 647 NR_024035.1 CCGGTCTGCCTTCCAGAGGCG 0.597 5 2 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085856 11085858 + RNA DEL CAC CAC - TCGA-E8-A413-01A-21D-A23M-08 TCGA-E8-A413-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd754e97-f9c6-456e-9717-b7d62c71bef1 2ca22eb2-35b8-4dae-9781-138eeda9725e g.chr21:11085856_11085858delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccatcaccaccaccacc 0.581 2 4 --- --- --- ---