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 IRS1 3667 broad.mit.edu 37 2 227661681 227661681 + Missense_Mutation SNP A A C TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr2:227661681A>C ENST00000305123.4 - 1 2794 c.1774T>G c.(1774-1776)Ttg>Gtg p.L592V NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 592 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGACGCTCCAAGGGGTGCATT 0.692000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 23 0 0 1 0 0 HIATL1 84641 broad.mit.edu 37 9 97220656 97220656 + Missense_Mutation SNP G G A TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr9:97220656G>A ENST00000428393.2 + 9 922 c.886G>A c.(886-888)Gcc>Acc p.A296T HIATL1_ENST00000375344.3_Silent_p.G393G Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 0 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) ATGGCCTGGGGCCAGCACTGT 0.448000 4 63 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48599381 48599381 + Missense_Mutation SNP C C T TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr17:48599381C>T ENST00000323776.5 + 10 1487 c.1325C>T c.(1324-1326)cCt>cTt p.P442L MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P405L NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 405 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) ATTCTCGGCCCTTCTCTGCTG 0.522000 12 35 0 0 1 0 0 PPCS 79717 broad.mit.edu 37 1 42922574 42922574 + Missense_Mutation SNP C C T TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr1:42922574C>T ENST00000372561.3 + 1 345 c.338C>T c.(337-339)tCg>tTg p.S113L PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 113 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCAGCCCTTTCGGGCTTGCTG 0.647000 4 98 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 13 32 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61490813 61490813 + Silent SNP T T C TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr20:61490813T>C ENST00000335351.3 - 3 989 c.897A>G c.(895-897)gcA>gcG p.A299A TCFL5_ENST00000217162.5_Silent_p.A251A NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 299 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) AGAAAGAAAATGCTCTAGGCA 0.373000 25 66 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 3 15 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43481454 43481454 + Silent SNP G G C TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr17:43481454G>C ENST00000532038.1 - 6 957 c.822C>G c.(820-822)acC>acG p.T274T ARHGAP27_ENST00000455881.1_Silent_p.T155T|ARHGAP27_ENST00000532891.2_Silent_p.T474T|ARHGAP27_ENST00000442348.1_Silent_p.T469T|ARHGAP27_ENST00000528384.1_Silent_p.T128T|ARHGAP27_ENST00000376922.2_Silent_p.T155T|ARHGAP27_ENST00000428638.1_Silent_p.T496T Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 496 WW 1. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CCTTGTCCAAGGTCTTGGTCT 0.602000 11 20 0 0 1 0 0 KCNK12 56660 broad.mit.edu 37 2 47797390 47797392 + In_Frame_Del DEL GCA GCA - TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr2:47797390_47797392delGCA ENST00000327876.3 - 1 686_688 c.79_81delTGC c.(79-81)del p.C27del KCNK12_ENST00000493527.1_5'UTR NM_022055.1 NP_071338.1 Q9HB15 KCNKC_HUMAN potassium channel, subfamily K, member 12 27 Poly-Cys. integral to membrane potassium channel activity|voltage-gated ion channel activity p.0?(2)|p.?(1) NS(1)|endometrium(1)|lung(3)|ovary(1) 6 all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCGAAcggcggcagcagcagcag 0.759 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 9 14 --- --- --- --- COL21A1 0 broad.mit.edu 37 6 55940295 55940295 + Frame_Shift_Del DEL T T - TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr6:55940295delT ENST00000244728.5 - 19 2290 c.1893delA c.(1891-1893)aafs p.K631fs COL21A1_ENST00000370819.1_Frame_Shift_Del_p.K628fs|COL21A1_ENST00000370808.2_Frame_Shift_Del_p.K31fs|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.K631fs NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 631 Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity p.G632fs*8(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTGGGGCTCCTTTTTTTCCTT 0.353 2 4 --- --- --- --- EHBP1L1 254102 broad.mit.edu 37 11 65349139 65349140 + Frame_Shift_Del DEL AG AG - TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr11:65349139_65349140delAG ENST00000309295.4 + 9 1261_1262 c.996_997delAG c.(994-999)cccafs p.PA332fs NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 332 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGCTCCTCCAGCAGGATTGGG 0.668 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 3 --- --- --- --- APC2 10297 broad.mit.edu 37 19 1456896 1456896 + Frame_Shift_Del DEL C C - TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr19:1456896delC ENST00000535453.1 + 8 2574 c.861delC c.(859-861)gafs p.D287fs APC2_ENST00000238483.4_Intron|APC2_ENST00000233607.2_Frame_Shift_Del_p.D287fs O95996 APC2_HUMAN adenomatosis polyposis coli 2 287 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGACGCGCGACCAGGAGGATA 0.687 2 4 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20317771 20317772 + RNA INS - - AC rs60397012 TCGA-IM-A420-01A-11D-A23M-08 TCGA-IM-A420-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dd706a0f-2fb1-4b3c-8298-680f921f25e6 0c308133-a356-4cb7-8da0-b70e2bcd8322 g.chr19:20317771_20317772insAC ENST00000585498.1 - 0 173 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TGGTTCCTGAAacacacacaca 0.406 7 55 --- --- --- ---