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 STAG3 10734 broad.mit.edu 37 7 99796515 99796515 + Missense_Mutation SNP C C T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr7:99796515C>T uc003utx.1 + 13 1557 c.1402C>T c.(1402-1404)Cgc>Tgc p.R468C STAG3_uc010lgs.1_Missense_Mutation_p.R256C|STAG3_uc011kjk.1_Missense_Mutation_p.R410C|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 468 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.R468C(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAGAGAGCAACGCCAGAGCCC 0.537000 35 65 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78176241 78176241 + Missense_Mutation SNP C C G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr13:78176241C>G uc001vki.3 + 15 1129 c.959C>G c.(958-960)aCt>aGt p.T320S SCEL_uc010thx.2_Missense_Mutation_p.T298S|SCEL_uc001vkj.3_Missense_Mutation_p.T300S NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 320 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AATCAAAGGACTGACAAAAAT 0.393000 7 29 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157527496 157527496 + Missense_Mutation SNP G G A TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr6:157527496G>A uc003qqn.3 + 19 5341 c.5341G>A c.(5341-5343)Gac>Aac p.D1781N ARID1B_uc003qqo.3_Missense_Mutation_p.D1741N|ARID1B_uc003qqp.3_Missense_Mutation_p.D1728N NM_020732 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA. 1728 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TATTGATGACGACGAGGAAGA 0.537000 7 181 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26882008 26882008 + Missense_Mutation SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr17:26882008A>G uc002hbo.2 - 10 1626 c.1253T>C c.(1252-1254)cTa>cCa p.L418P UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.L410P|PIGS_uc010wap.1_Missense_Mutation_p.L357P NM_033198 NP_149975 Q96S52 PIGS_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA. 418 C-terminal protein lipidation|attachment of GPI anchor to protein GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCAGGTCATTAGCCCTTCACT 0.587000 3 54 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6105204 6105204 + Missense_Mutation SNP G G T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr12:6105204G>T uc001qnn.1 - 34 6277 c.6027C>A c.(6025-6027)caC>caA p.H2009Q VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2009 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGAGGGCACTGTGCTTCACCT 0.522000 19 26 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186122946 186122946 + Missense_Mutation SNP T T C TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr1:186122946T>C uc001grq.1 + 96 15312 c.15083T>C c.(15082-15084)tTc>tCc p.F5028S MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.F597S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 5028 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACCCGGCTGTTCACCATTGAT 0.463000 17 35 0 0 1 0 0 GPR87 53836 broad.mit.edu 37 3 151012084 151012084 + Missense_Mutation SNP A A G TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr3:151012084A>G uc003eyt.2 - 2 1311 c.950T>C c.(949-951)aTg>aCg p.M317T MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA. 317 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.F316L(1) endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGACCTACACATGAAAAAGTA 0.358000 53 58 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 64 106 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93624630 93624630 + Missense_Mutation SNP T T A TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr3:93624630T>A uc003drb.4 - 5 940 c.599A>T c.(598-600)aAa>aTa p.K200I PROS1_uc010hoo.3_Missense_Mutation_p.K69I|PROS1_uc003dqz.4_Missense_Mutation_p.K69I NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 200 EGF-like 2; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GCTCTTACCTTTACAATCTTT 0.303000 18 32 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000018 56000018 + Missense_Mutation SNP C C T TCGA-EM-A22L-01A-11D-A17V-08 TCGA-EM-A22L-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d97ee252-2e59-49f9-bcdb-486493788808 4c38ef42-92bd-4077-a3b6-0d736fec72be g.chr11:56000018C>T uc010rjc.2 - 0 644 c.644G>A c.(643-645)cGt>cAt p.R215H NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACAAAAGACACGCCTAATTTC 0.433000 7 112 0 0 1 0 0