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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 45 0 0 0.115264 0 0 DNAH2 146754 broad.mit.edu 37 17 7734055 7734055 + Missense_Mutation SNP G G A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr17:7734055G>A ENST00000572933.1 + 79 13585 c.12125G>A c.(12124-12126)gGc>gAc p.G4042D DNAH2_ENST00000389173.2_Missense_Mutation_p.G4042D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4042 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.G4042D(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCATTGCCGGCATCAACTAT 0.507000 3 54 0 0 0.115264 0 0 IARS 3376 broad.mit.edu 37 9 95050407 95050407 + Splice_Site SNP C C G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr9:95050407C>G ENST00000375643.3 - 3 543 c.e3+1 IARS_ENST00000443024.2_Splice_Site|IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Splice_Site NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CTCAAACATACCACAGGTAAG 0.348000 3 54 0 0 0.115264 0 0 PSG9 5678 broad.mit.edu 37 19 43766171 43766171 + Missense_Mutation SNP C C A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr19:43766171C>A ENST00000244293.7 - 3 616 c.550G>T c.(550-552)Ggt>Tgt p.G184C PSG9_ENST00000593948.1_Missense_Mutation_p.G184C|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.G184C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 184 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGCTCTGACCATTCATCCAC 0.507000 109 165 3.29639e-60 3.86967e-60 0.139131 1 0 EIF1AX 1964 broad.mit.edu 37 X 20148725 20148725 + Splice_Site SNP G G A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chrX:20148725G>A ENST00000379607.5 - 6 541 c.337_splice c.e6-1 p.A113_splice EIF1AX_ENST00000379593.1_Splice_Site_p.A85_splice NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 113 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 ATTGATTTTAGCTAAGGACAC 0.313000 22 41 0 0 0.062417 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606560 82606560 + Silent SNP T T A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr8:82606560T>A ENST00000518568.1 - 1 1849 c.648A>T c.(646-648)ccA>ccT p.P216P NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 216 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CACCCCCTCCTGGGCACGTGC 0.468000 42 73 0 0 0.104719 0 0 ENPP1 5167 broad.mit.edu 37 6 132171195 132171195 + Missense_Mutation SNP G G A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr6:132171195G>A ENST00000360971.2 + 3 399 c.379G>A c.(379-381)Gtt>Att p.V127I NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 127 SMB 1. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TGCTGCCTGTGTTGAGCTTGG 0.413000 9 89 0 0 0.069234 0 0 IGSF22 283284 broad.mit.edu 37 11 18731052 18731052 + Nonsense_Mutation SNP G G C TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr11:18731052G>C ENST00000513874.1 - 18 3019 c.2880C>G c.(2878-2880)taC>taG p.Y960* RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 859 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CTCCCACTGTGTAGCAGGTGC 0.567000 4 102 0 0 0.150653 0 0 ALPK1 80216 broad.mit.edu 37 4 113362205 113362205 + Missense_Mutation SNP A A G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr4:113362205A>G ENST00000458497.1 + 15 3950 c.3671A>G c.(3670-3672)gAa>gGa p.E1224G ALPK1_ENST00000504176.2_Missense_Mutation_p.E1146G|ALPK1_ENST00000177648.9_Missense_Mutation_p.E1224G NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1224 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAGCATGTGGAATGTAATGAA 0.383000 56 121 0 0 0.139131 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148726 20148726 + Splice_Site SNP C C A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chrX:20148726C>A ENST00000379607.5 - 6 541 c.e6-1 EIF1AX_ENST00000379593.1_Splice_Site NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TTGATTTTAGCTAAGGACACA 0.313000 21 42 6.33239e-15 7.12393e-15 0.055883 1 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 108 0 0 0.014758 0 0 RGPD8 727851 broad.mit.edu 37 2 113174792 113174792 + Missense_Mutation SNP C C T TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr2:113174792C>T ENST00000302558.3 - 6 951 c.760G>A c.(760-762)Gaa>Aaa p.E254K RGPD8_ENST00000409750.1_Intron|RGPD8_ENST00000330575.5_Missense_Mutation_p.E254K NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TCTCTATTTTCCTGCACATCT 0.388000 56 102 0 0 0.139131 0 0 PKM 5315 broad.mit.edu 37 15 72495521 72495521 + Silent SNP A A G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr15:72495521A>G ENST00000319622.6 - 9 1605 c.1149T>C c.(1147-1149)cgT>cgC p.R383R PKM_ENST00000335181.5_Intron|PKM_ENST00000449901.2_Intron|PKM_ENST00000568459.1_Silent_p.R383R|PKM_ENST00000568883.1_Silent_p.R218R|PKM_ENST00000389093.3_Silent_p.R383R|PKM_ENST00000565154.1_Silent_p.R383R|PKM_ENST00000565184.1_Silent_p.R383R NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 CCTCAGCCTCACGAGCTATCT 0.527000 3 42 0 0 0.115264 0 0 SPRED2 200734 broad.mit.edu 37 2 65540763 65540763 + Missense_Mutation SNP G G A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr2:65540763G>A ENST00000356388.4 - 6 1318 c.1129C>T c.(1129-1131)Cgg>Tgg p.R377W SPRED2_ENST00000443619.2_Missense_Mutation_p.R374W NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 377 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GCCATCCACCGGAGGCAAAAC 0.577000 3 34 0 0 0.115264 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666639 19666639 + Missense_Mutation SNP C C T TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr21:19666639C>T ENST00000284885.3 - 21 2467 c.2434G>A c.(2434-2436)Gca>Aca p.A812T NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 812 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ACGAGAGATGCGCCGCAGAGC 0.567000 5 64 0 0 0.014758 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128762 45128762 + RNA SNP T T C rs8066232 by1000genomes TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr17:45128762T>C ENST00000575173.1 - 0 418 TTCTGCCTCATTGTGGTAAGG 0.368000 3 62 0 0 0.115264 0 0 AC008103.5 0 broad.mit.edu 37 22 18844900 18844900 + RNA SNP C C T TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr22:18844900C>T ENST00000412938.1 + 0 3150 ACAGCTTCAGCGTGCCTGCGA 0.577000 7 38 0 0 0.038147 0 0 RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 5 7 --- --- --- ---