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 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 uc001ztl.3 - 6 605 c.428_splice c.e6-1 p.A143_splice FRMD5_uc001ztj.1_Splice_Site|FRMD5_uc001ztk.1_Splice_Site_p.A54_splice|FRMD5_uc001ztm.3_Splice_Site|FRMD5_uc001ztn.3_Splice_Site NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA. 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 0 1 0 0 C3orf15 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 uc003ede.4 + 16 2251 c.2174C>T c.(2173-2175)gCa>gTa p.A725V C3orf15_uc010hqz.3_Missense_Mutation_p.A663V|C3orf15_uc011bjd.2_Missense_Mutation_p.A599V|C3orf15_uc011bje.2_Missense_Mutation_p.A705V|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_Non-coding_Transcript NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 561 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) CATATTCTTGCAGCCCATCAG 0.413000 3 54 0 0 1 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 uc002klp.3 - 37 5249 c.4915G>A c.(4915-4917)Gct>Act p.A1639T MYOM1_uc002klq.3_Missense_Mutation_p.A1543T NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 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 1 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 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 20 56 0 0 1 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 uc001zro.3 + 8 1232 c.992G>A c.(991-993)cGc>cAc p.R331H TUBGCP4_uc001zrn.3_Missense_Mutation_p.R331H|TUBGCP4_uc010bdh.3_Non-coding_Transcript NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA. 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 1 0 0