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 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 3 31 6.4e-05 6.85714e-05 1 1 0 SDPR 8436 broad.mit.edu 37 2 192701209 192701209 + Missense_Mutation SNP C C T TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr2:192701209C>T ENST00000304141.4 - 2 1047 c.718G>A c.(718-720)Gat>Aat p.D240N NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 240 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TTGAGGCTATCCACTTTCTTC 0.453000 7 191 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113659993 113659993 + RNA SNP A A C rs906846 by1000genomes TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr11:113659993A>C ENST00000393544.2 + 0 41 GGCAGCATGTAGGTTGCAGGG 0.657000 3 26 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659512 24659512 + RNA SNP A A G TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr22:24659512A>G ENST00000414583.2 + 0 3037 NR_003714.1 TGCCTGGGCCATGGAGCACTC 0.473000 4 20 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332536 124332536 + Missense_Mutation SNP C C T TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr12:124332536C>T ENST00000409039.3 + 32 5514 c.5489C>T c.(5488-5490)cCc>cTc p.P1830L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1830 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGTGGGGCCCCCGCCGGCCCA 0.532000 4 96 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152881 149152881 + Missense_Mutation SNP C C A TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr7:149152881C>A ENST00000247930.4 - 2 556 c.233G>T c.(232-234)gGa>gTa p.G78V NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GAGTGAGGGTCCCTTCTGGAG 0.602000 43 74 7.05121e-23 8.13601e-23 1 1 0 MT1JP 0 broad.mit.edu 37 16 56670827 56670827 + RNA SNP C C T rs11076159 by1000genomes TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr16:56670827C>T ENST00000564564.1 + 0 806 TGCAAAGGGACGTCGGAGAAG 0.537000 6 72 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88719737 88719737 + Missense_Mutation SNP C C T rs113497258 byFrequency TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr16:88719737C>T ENST00000301012.3 - 9 1122 c.1093G>A c.(1093-1095)Ggt>Agt p.G365S NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 365 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) TTGACCCCACCGGGGGTCGGC 0.672000 3 21 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33281527 33281527 + Missense_Mutation SNP G G A TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr6:33281527G>A ENST00000434618.2 - 2 497 c.152C>T c.(151-153)cCg>cTg p.P51L TAPBP_ENST00000489157.1_Missense_Mutation_p.P51L|TAPBP_ENST00000426633.2_Missense_Mutation_p.P51L|TAPBP_ENST00000456592.2_Missense_Mutation_p.P51L|TAPBP_ENST00000475304.1_Missense_Mutation_p.P51L NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 51 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 CGGTTCCCCCGGTCCCTGGCG 0.672000 7 42 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 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 20 43 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6707418 6707418 + Silent SNP G G A TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr12:6707418G>A ENST00000309577.6 - 11 1819 c.1656C>T c.(1654-1656)taC>taT p.Y552Y CHD4_ENST00000544484.1_Silent_p.Y549Y|CHD4_ENST00000357008.2_Silent_p.Y552Y|CHD4_ENST00000544040.1_Silent_p.Y545Y Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 552 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AGCAGTGCCAGTAAGACATGC 0.542000 6 127 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 4 --- --- --- --- PCDHB17 0 broad.mit.edu 37 5 140535781 140535782 + Frame_Shift_Ins INS - - C TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr5:140535781_140535782insC ENST00000539533.1 + 1 205_206 c.205_206insC c.(205-207)caafs p.Q69fs CCGGATTCTTTCCAAAGGGAAC 0.510 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 2 4 --- --- --- --- CACNA2D4 93589 broad.mit.edu 37 12 1993484 1993484 + Frame_Shift_Del DEL G G - TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr12:1993484delG ENST00000382722.5 - 12 1638 c.1276delC c.(1276-1278)gafs p.R426fs CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.R426fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.R426fs NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 426 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTGAAAACTCGGACCTAACCC 0.483 5 7 --- --- --- ---