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 VWA2 340706 broad.mit.edu 37 10 116045781 116045781 + Missense_Mutation SNP C C T TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr10:116045781C>T ENST00000603594.1 + 11 1402 c.1081C>T c.(1081-1083)Cgg>Tgg p.R361W VWA2_ENST00000392982.3_Missense_Mutation_p.R361W NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 361 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CGGCTTCCTGCGGGCCAAAGT 0.652000 4 170 0 0 0.014758 0 0 ZBED1 9189 broad.mit.edu 37 X 2406764 2406764 + Missense_Mutation SNP T T C TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chrX:2406764T>C ENST00000381223.4 - 2 2200 c.1997A>G c.(1996-1998)gAg>gGg p.E666G DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 666 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGGCCCCACTCCCCCTCGTC 0.647000 3 98 0 0 0.014758 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 68 0 0 0.014758 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 3 69 0 0 0.115264 0 0 MYOM1 8736 broad.mit.edu 37 18 3067403 3067403 + Missense_Mutation SNP C C T TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr18:3067403C>T ENST00000356443.4 - 38 5248 c.4915G>A c.(4915-4917)Gct>Act p.A1639T MYOM1_ENST00000400569.3_Missense_Mutation_p.A1639T|MYOM1_ENST00000261606.7_Missense_Mutation_p.A1543T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1639 Ig-like C2-type 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCCGAGTCAGCGGTGCTCACG 0.587000 4 100 0 0 0.021553 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43678506 43678506 + Missense_Mutation SNP G G A TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr15:43678506G>A ENST00000564079.1 + 9 1232 c.992G>A c.(991-993)cGc>cAc p.R331H TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R195H|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R331H NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 331 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GTGGTGGATCGCATTCGCAGC 0.368000 23 78 0 0 0.045705 0 0 FRMD5 84978 broad.mit.edu 37 15 44198149 44198149 + Splice_Site SNP G G T TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr15:44198149G>T ENST00000417257.1 - 6 604 c.427_splice c.e6-1 p.A143_splice FRMD5_ENST00000402883.1_Splice_Site_p.A143_splice|FRMD5_ENST00000484674.1_Splice_Site_p.A54_splice NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 143 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) CCCAATCTCCGCTTTCAAAAG 0.418000 3 36 0.115264 0.166492 0.115264 1 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 3 69 0 0 0.014758 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 62 0 0 0.115264 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 3 21 0.004672 0.00714541 0.115264 1 0 MAATS1 89876 broad.mit.edu 37 3 119469814 119469814 + Missense_Mutation SNP C C T TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr3:119469814C>T ENST00000273390.5 + 17 2251 c.2174C>T c.(2173-2175)gCa>gTa p.A725V MAATS1_ENST00000472117.1_3'UTR NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CATATTCTTGCAGCCCATCAG 0.413000 3 54 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da 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 56 0 0 0.069288 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 4 131 0 0 0.080935 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 43 0 0 0.115264 0 0 KRT3 3850 broad.mit.edu 37 12 53189414 53189431 + In_Frame_Del DEL CCAAAGCCACCAGCCCCT CCAAAGCCACCAGCCCCT - rs142692092 by1000genomes TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT ENST00000417996.2 - 1 470_487 c.396_413delAGGGGCTGGTGGCTTTGG c.(394-414)ggt>gg p.GGAGGFG132del KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 132 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 accaggaccaccaaagccaccagcccctccaaagccac 0.633 5 6 --- --- --- --- DLG4 1742 broad.mit.edu 37 17 7122287 7122287 + Translation_Start_Site DEL T T - TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr17:7122287delT ENST00000399510.2 - 0 734 ACADVL_ENST00000543245.2_Intron NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 AGCTGTCCCATTCCCCCAGGT 0.582 2 4 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173572 80173574 + RNA DEL CCC CCC - rs61186056 TCGA-DJ-A3UY-01A-21D-A22D-08 TCGA-DJ-A3UY-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx e37b8756-66b6-4914-a3f4-0c6670bfe247 f2bcc28c-91eb-4698-8590-8b4109e059da g.chr17:80173572_80173574delCCC ENST00000581303.1 + 0 1371 tccttccctgccccccccacact 0.704 5 3 --- --- --- ---