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 EPPK1 83481 broad.mit.edu 37 8 144940596 144940596 + Missense_Mutation SNP C C T TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr8:144940596C>T uc003zaa.1 - 0 6839 c.6826G>A c.(6826-6828)Gtg>Atg p.V2276M NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2276 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTTGCGCACGGGGTCGATG 0.726000 5 41 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282217 71282217 + Silent SNP G G A TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr17:71282217G>A uc002jjn.3 - 1 570 c.423C>T c.(421-423)tcC>tcT p.S141S CDC42EP4_uc002jjo.3_Silent_p.S141S|CDC42EP4_uc002jjp.1_Silent_p.S71S|CDC42EP4_uc021ucn.1_Silent_p.S141S NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA. 141 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TCACGGGGCTGGATGACAGGC 0.652000 3 47 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61832571 61832571 + Missense_Mutation SNP A A G TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr5:61832571A>G uc011cqr.2 + 22 2382 c.2252A>G c.(2251-2253)aAt>aGt p.N751S IPO11_uc003jtc.3_Missense_Mutation_p.N711S|IPO11_uc003jtd.1_Non-coding_Transcript NM_001134779 NP_057422 Q9UI26 IPO11_HUMAN Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA. 711 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AAGATCATCAATGGTTATATC 0.239000 10 25 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103899202 103899202 + Missense_Mutation SNP C C T TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr10:103899202C>T uc001kum.3 + 4 976 c.937C>T c.(937-939)Cac>Tac p.H313Y PPRC1_uc001kun.3_Missense_Mutation_p.H193Y|PPRC1_uc010qqj.2_Missense_Mutation_p.H313Y|PPRC1_uc009xxa.3_Non-coding_Transcript NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCGGGCCATGCACCCATACTG 0.582000 16 39 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27910005 27910005 + Silent SNP G G A TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr17:27910005G>A uc002heg.2 - 2 451 c.237C>T c.(235-237)tcC>tcT p.S79S GIT1_uc002hef.2_Silent_p.S79S|GIT1_uc010wbg.1_Silent_p.S79S NM_001085454 NP_001078923 Q9Y2X7 GIT1_HUMAN Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA. 79 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGTCCAGCAGGGAGTGCTCCC 0.627000 17 44 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 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 27 47 0 0 1 0 0 C9orf106 414318 broad.mit.edu 37 9 132084622 132084622 + Missense_Mutation SNP G G T TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr9:132084622G>T uc004bxs.2 + 1 583 c.530G>T c.(529-531)gGa>gTa p.G177V NM_001012715 NP_001012733 Q8NAJ2 CI106_HUMAN Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA. 177 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) ATGCCCGGGGGACACTGCCCT 0.597000 9 22 0 0 1 0 0 ISYNA1 51477 broad.mit.edu 37 19 18547917 18547918 + Splice_Site INS - - G TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr19:18547917_18547918insG uc002njd.2 - 4 501 c.283_splice c.e4-1 p.E95_splice ISYNA1_uc002nja.2_5'UTR|ISYNA1_uc002njb.2_Splice_Site|ISYNA1_uc002njc.2_Intron|ISYNA1_uc010xqh.2_Splice_Site|ISYNA1_uc002nje.2_Splice_Site_p.E41_splice NM_016368 NP_001164410 Q9NPH2 INO1_HUMAN Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA. 95 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 GTTGGCCTCCTGGGGGTCAGCA 0.698 2 4 --- --- --- ---