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 TBCC 6903 broad.mit.edu 37 6 42713803 42713803 + Silent SNP G G A TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr6:42713803G>A uc003osl.3 - 0 82 c.9C>T c.(7-9)tcC>tcT p.S3S NM_003192 NP_003183 Q15814 TBCC_HUMAN Homo sapiens tubulin folding cofactor C (TBCC), mRNA. 3 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium GTPase activity|chaperone binding p.S3S(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) AGCAACTGACGGACTCCATAT 0.617000 6 52 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113644351 113644351 + Missense_Mutation SNP C C T TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr11:113644351C>T uc001poe.3 - 0 135 c.38G>A c.(37-39)gGg>gAg p.G13E ZW10_uc009yyv.3_Non-coding_Transcript NM_004724 NP_004715 O43264 ZW10_HUMAN Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA. 13 Interaction with RINT1.|Interaction with ZWINT. ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTCCAGCCTCCCGGAGTGTGC 0.642000 23 43 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118375798 118375798 + Missense_Mutation SNP A A G TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr11:118375798A>G uc001ptb.3 + 26 9214 c.9191A>G c.(9190-9192)aAt>aGt p.N3064S MLL_uc001pta.3_Missense_Mutation_p.N3061S NM_001197104 NP_001184033 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA. 3061 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAGATTTCCAATGCAGCTGTC 0.502000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 31 126 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568291 159568291 + Missense_Mutation SNP C C T TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr4:159568291C>T uc011cje.2 + 15 2038 c.1775C>T c.(1774-1776)cCt>cTt p.P592L RXFP1_uc010iqk.3_Missense_Mutation_p.P433L|RXFP1_uc011cja.2_Missense_Mutation_p.P460L|RXFP1_uc010iqo.3_Missense_Mutation_p.P517L|RXFP1_uc011cjb.2_Missense_Mutation_p.P463L|RXFP1_uc011cjc.2_Missense_Mutation_p.P484L|RXFP1_uc011cjd.2_Missense_Mutation_p.P484L|RXFP1_uc010iql.3_Missense_Mutation_p.P409L|RXFP1_uc003ipz.3_Missense_Mutation_p.P565L|RXFP1_uc010iqm.3_Missense_Mutation_p.P532L|RXFP1_uc011cjf.2_Missense_Mutation_p.P434L|RXFP1_uc010iqn.3_Missense_Mutation_p.P510L NM_001253727 NP_001240656 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 2, mRNA. 565 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GTATGCTTCCCTCTTCATTCA 0.333000 30 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 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 29 38 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64615867 64615867 + Missense_Mutation SNP A A G TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr12:64615867A>G uc001srw.4 - 0 210 c.151T>C c.(151-153)Tgg>Cgg p.W51R BC042855_uc001srx.3_5'Flank NM_152440 NP_689653 Q96MD2 CL066_HUMAN Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA. 51 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 AGCGACAGCCAGCTGCCCCCC 0.622000 3 21 0 0 1 0 0