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 ITGBL1 9358 broad.mit.edu 37 13 102235682 102235682 + Silent SNP C C A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr13:102235682C>A uc001vpb.3 + 5 1063 c.844C>A c.(844-846)Cga>Aga p.R282R ITGBL1_uc010agb.3_Silent_p.R233R|ITGBL1_uc001vpc.4_Silent_p.R141R NM_004791 NP_004782 O95965 ITGBL_HUMAN Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA. 282 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTCTATGACCGATATTCTGA 0.458000 74 101 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51523917 51523917 + Silent SNP C C T rs142855690 by1000genomes TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr6:51523917C>T uc003pah.1 - 60 11283 c.11007G>A c.(11005-11007)tcG>tcA p.S3669S NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3669 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTACTGTTGGCGAATCACCAA 0.423000 11 184 0 0 1 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4657258 4657258 + Splice_Site SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr12:4657258G>A uc001qmw.3 + 6 527 c.371_splice c.e6-1 p.S124_splice RAD51AP1_uc001qmu.3_Splice_Site_p.S107_splice|RAD51AP1_uc010sep.2_Splice_Site|RAD51AP1_uc010seq.2_Splice_Site|RAD51AP1_uc009zeg.3_5'Flank NM_001130862 NP_001124334 Q96B01 R51A1_HUMAN Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA. 124 double-strand break repair via homologous recombination RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TTATATTTAGGCATTGAAAAA 0.254000 6 118 0 0 1 0 0 MCMBP 79892 broad.mit.edu 37 10 121618395 121618395 + Splice_Site SNP C C A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr10:121618395C>A uc001ler.2 - 4 625 c.327_splice c.e4+1 p.G109_splice MCMBP_uc001les.1_Splice_Site|MCMBP_uc021pzr.1_5'Flank NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA. 109 DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 AAGATACATACCCCACACTCT 0.269000 7 99 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170274 63170274 + Missense_Mutation SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr10:63170274C>T uc001jlo.2 - 5 1282 c.913G>A c.(913-915)Gtg>Atg p.V305M TMEM26_uc001jlp.1_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 305 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GCCAGCACCACCAAGCGGTAG 0.532000 8 49 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576999 158576999 + Missense_Mutation SNP C C A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr1:158576999C>A uc010pio.2 + 0 771 c.771C>A c.(769-771)ttC>ttA p.F257L NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GTGCTTCCTTCGTGTACCTGA 0.493000 14 267 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687975 61687975 + Missense_Mutation SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr16:61687975C>T uc002eog.2 - 11 2892 c.1937G>A c.(1936-1938)cGg>cAg p.R646Q NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 646 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R646Q(2)|p.R646L(2) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTTTTATGCCGCCGTAGAGT 0.393000 5 98 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17765031 17765031 + Silent SNP C C T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr6:17765031C>T uc003ncg.4 - 38 4888 c.4728G>A c.(4726-4728)ctG>ctA p.L1576L KIF13A_uc003ncf.3_Silent_p.L1528L|KIF13A_uc003nch.4_Silent_p.L1541L|KIF13A_uc003nci.4_Silent_p.L1528L|KIF13A_uc003nce.2_Silent_p.L127L NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 1576 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GTGAGTTTGACAGATCTACTT 0.473000 3 34 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb 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 38 45 0 0 1 0 0 LSAMP 4045 broad.mit.edu 37 3 115571362 115571362 + Missense_Mutation SNP G G A TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chr3:115571362G>A uc011bis.2 - 3 1124 c.617C>T c.(616-618)gCg>gTg p.A206V LSAMP_uc003ebs.3_Missense_Mutation_p.A206V NM_002338 NP_002329 Q13449 LSAMP_HUMAN Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA. 206 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane p.S205S(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TTTGACATCCGCCGAGGAGAC 0.527000 29 37 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19506981 19506981 + Missense_Mutation SNP G G T TCGA-FE-A233-01A-11D-A14W-08 TCGA-FE-A233-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8485acc-97ec-4ea6-9a86-debbc1bec114 c978bbee-66b4-4c0c-aa14-7667a1765dbb g.chrX:19506981G>T uc022btq.1 - 1 466 c.466C>A c.(466-468)Cat>Aat p.H156N NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 156 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TCGGTGTCATGGTACAAGATC 0.458000 44 106 0 0 1 0 0