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 STAR 6770 broad.mit.edu 37 8 38005761 38005761 + Missense_Mutation SNP C C T TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr8:38005761C>T uc003xkv.1 - 2 527 c.263G>A c.(262-264)gGc>gAc p.G88D NM_000349 NP_000340 P49675 STAR_HUMAN Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA. 88 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GCTAAGGATGCCCAAGGCCTT 0.582000 13 25 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e 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 12 50 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37809863 37809863 + Missense_Mutation SNP T T G TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr17:37809863T>G uc010wei.2 + 1 282 c.79T>G c.(79-81)Tcc>Gcc p.S27A STARD3_uc010weg.2_Missense_Mutation_p.S27A|STARD3_uc002hsd.3_Missense_Mutation_p.S27A|STARD3_uc002hse.3_Missense_Mutation_p.S27A|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR NM_001165937 NP_001159409 Q14849 STAR3_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 2, mRNA. 27 cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTCCTCACTGTCCCACAGCCA 0.662000 OREG0024381 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 23 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45970525 45970525 + Missense_Mutation SNP G G A TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr22:45970525G>A uc003bgj.1 + 14 1979 c.1832G>A c.(1831-1833)cGc>cAc p.R611H NM_006486 NP_006477 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA. 611 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GAGTTCACCCGCCCTGAAGGT 0.627000 5 15 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332178 144332178 + Missense_Mutation SNP A A C TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr8:144332178A>C uc003yxw.3 + 1 523 c.165A>C c.(163-165)gaA>gaC p.E55D ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.E55D NM_173832 NP_776193 Q8N8Y5 ZFP41_HUMAN Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA. 55 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P54P(1) breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) TGAGTCCTGAAGACGAAGAGC 0.547000 18 27 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101599455 101599455 + Missense_Mutation SNP G G C TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr5:101599455G>C uc003knm.3 - 3 1119 c.832C>G c.(832-834)Cct>Gct p.P278A NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 278 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CCAATAGCAGGGCCTAAGATT 0.373000 21 41 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62542046 62542046 + Missense_Mutation SNP G G A TCGA-KS-A4I9-01A-11D-A257-08 TCGA-KS-A4I9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 793cb62b-2e51-4307-9d52-3335cc63054d 7e5e2a63-f999-4600-b2ef-341036a6259e g.chr17:62542046G>A uc002jep.1 - 18 2555 c.2167C>T c.(2167-2169)Cca>Tca p.P723S SMURF2_uc002jeq.1_Missense_Mutation_p.P482S|SMURF2_uc002jer.1_Missense_Mutation_p.P482S NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA. 723 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex SMAD binding|identical protein binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TCATAGGGTGGAATGTCTATT 0.368000 19 26 0 0 1 0 0