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 MGST1 4257 broad.mit.edu 37 12 16516841 16516841 + Missense_Mutation SNP G G A rs139915404 TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr12:16516841G>A ENST00000396209.1 + 4 477 c.334G>A c.(334-336)Gga>Aga p.G112R MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R|MGST1_ENST00000540056.1_3'UTR NM_145791.2 NP_665734.1 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 112 protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Hepatocellular(102;0.121) Glutathione(DB00143) ACTATTTGTCGGAGCACGGAT 0.453000 42 74 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978263 45978263 + Silent SNP G G T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr21:45978263G>T ENST00000391620.1 - 1 380 c.336C>A c.(334-336)ccC>ccA p.P112P TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 112 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 tgcagcagacgggcacacagc 0.647000 7 125 1.76689e-08 1.99736e-08 1 1 0 DENND4A 10260 broad.mit.edu 37 15 65962141 65962141 + Missense_Mutation SNP A A C TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr15:65962141A>C ENST00000443035.3 - 27 4975 c.4760T>G c.(4759-4761)gTt>gGt p.V1587G DENND4A_ENST00000431932.2_Missense_Mutation_p.V1544G NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 ATTCCCTTGAACAGAGAGAGC 0.338000 8 5 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26890809 26890809 + Missense_Mutation SNP C C A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr22:26890809C>A ENST00000407690.1 - 13 2229 c.1946G>T c.(1945-1947)aGc>aTc p.S649I TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 649 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 TCCCACCAGGCTAGAGACAGA 0.502000 3 32 1 1 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 46 0.00909568 0.00945951 1 1 0 BPTF 2186 broad.mit.edu 37 17 65850649 65850649 + Missense_Mutation SNP C C T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr17:65850649C>T ENST00000321892.4 + 2 1268 c.1207C>T c.(1207-1209)Ctt>Ttt p.L403F BPTF_ENST00000424123.3_Missense_Mutation_p.L264F|BPTF_ENST00000306378.6_Missense_Mutation_p.L403F|BPTF_ENST00000335221.5_Missense_Mutation_p.L403F Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 403 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGGGGATTTGCTTTGCTGTGA 0.453000 4 129 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425181 71425181 + Missense_Mutation SNP G G T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chrX:71425181G>T ENST00000373657.1 - 3 3669 c.3067C>A c.(3067-3069)Cct>Act p.P1023T PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P1146T Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1146 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TCTCCGGAAGGATCCTCTTCT 0.502000 24 24 6.44725e-10 7.61948e-10 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102292950 102292950 + RNA SNP C C A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr15:102292950C>A ENST00000561463.1 + 0 996 GCAGGCACAGCGGTGCGACGA 0.587000 3 10 6.4e-05 6.93333e-05 1 1 0 MED12 9968 broad.mit.edu 37 X 70350001 70350001 + Missense_Mutation SNP T T A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chrX:70350001T>A ENST00000333646.6 + 28 4183 c.3984T>A c.(3982-3984)caT>caA p.H1328Q MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q|MED12_ENST00000374080.3_Missense_Mutation_p.H1328Q|MED12_ENST00000478889.1_Intron NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1328 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GCTATCCACATCGACTGCTGG 0.577000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 13 8 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32204532 32204532 + Silent SNP C C T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr1:32204532C>T ENST00000373658.3 - 16 2843 c.2502G>A c.(2500-2502)ccG>ccA p.P834P BAI2_ENST00000398542.1_Silent_p.P767P|BAI2_ENST00000398538.1_Silent_p.P822P|BAI2_ENST00000527361.1_Silent_p.P834P|BAI2_ENST00000373655.2_Silent_p.P834P|BAI2_ENST00000398547.1_Silent_p.P767P|BAI2_ENST00000257070.4_Silent_p.P834P|BAI2_ENST00000398556.3_Silent_p.P782P|BAI2_ENST00000440175.2_Silent_p.P476P NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 834 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TGACGGCCAGCGGGGGCCTGC 0.637000 27 41 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79675671 79675671 + Missense_Mutation SNP T T C TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr6:79675671T>C ENST00000275034.4 - 28 3475 c.3308A>G c.(3307-3309)tAc>tGc p.Y1103C PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1103 Mediates interaction with IRS1 (By similarity). insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CCAAACATTGTAGCATTGAAA 0.373000 12 84 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94110024 94110024 + Missense_Mutation SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr14:94110024A>G ENST00000553484.1 + 36 6362 c.6208A>G c.(6208-6210)Atc>Gtc p.I2070V UNC79_ENST00000555664.1_Missense_Mutation_p.I2009V|UNC79_ENST00000393151.2_Missense_Mutation_p.I2048V|UNC79_ENST00000256339.4_Missense_Mutation_p.I1871V Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2048 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTGCTGGATATCATGCAGTC 0.458000 42 45 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32204531 32204531 + Silent SNP G G A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr1:32204531G>A ENST00000373658.3 - 16 2844 c.2503C>T c.(2503-2505)Ctg>Ttg p.L835L BAI2_ENST00000398542.1_Silent_p.L768L|BAI2_ENST00000398538.1_Silent_p.L823L|BAI2_ENST00000527361.1_Silent_p.L835L|BAI2_ENST00000373655.2_Silent_p.L835L|BAI2_ENST00000398547.1_Silent_p.L768L|BAI2_ENST00000257070.4_Silent_p.L835L|BAI2_ENST00000398556.3_Silent_p.L783L|BAI2_ENST00000440175.2_Silent_p.L477L NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 835 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GTGACGGCCAGCGGGGGCCTG 0.632000 27 42 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36124121 36124121 + Silent SNP G G T TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr19:36124121G>T ENST00000262633.4 + 6 756 c.651G>T c.(649-651)ccG>ccT p.P217P RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000360475.4_Silent_p.P188P|RBM42_ENST00000589559.1_Silent_p.P188P NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 217 Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGGGCCCCCGCTGGGCTCCA 0.687000 22 31 8.04996e-18 9.96661e-18 1 1 0 EHF 26298 broad.mit.edu 37 11 34673125 34673125 + Missense_Mutation SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr11:34673125A>G ENST00000257831.3 + 5 564 c.443A>G c.(442-444)tAt>tGt p.Y148C EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000533754.1_Missense_Mutation_p.Y148C|EHF_ENST00000450654.2_Missense_Mutation_p.Y148C NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 148 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GACGAGAACTATTTATATGAC 0.428000 28 31 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51697226 51697226 + Silent SNP G G C TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr3:51697226G>C ENST00000409535.1 + 22 4319 c.4194G>C c.(4192-4194)gcG>gcC p.A1398A RAD54L2_ENST00000296477.3_Silent_p.A1092A NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1398 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGATGTTTGCGCCTTTTCCTT 0.577000 49 32 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50681871 50681871 + Missense_Mutation SNP A A G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr3:50681871A>G ENST00000446044.1 + 8 1132 c.536A>G c.(535-537)aAa>aGa p.K179R MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 179 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TCTAAGGAGAAAGACGCAGTG 0.498000 3 90 0 0 1 0 0 PDP1 54704 broad.mit.edu 37 8 94934280 94934280 + Missense_Mutation SNP C C G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr8:94934280C>G ENST00000396200.3 + 3 344 c.68C>G c.(67-69)tCt>tGt p.S23C PDP1_ENST00000297598.4_5'UTR|PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000517764.1_5'UTR NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 0 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 CCACTGTTCTCTGATGCCATG 0.443000 13 30 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 41 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 39 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57220269 57220269 + Frame_Shift_Del DEL A A - rs148777026 TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr4:57220269delA ENST00000205214.6 - 8 1499 c.1319delT c.(1318-1320)tgfs p.L440fs AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 440 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding p.?(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TTTTCGTCCCAAAAAAAAAAT 0.363 11 93 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29761783 29761784 + RNA INS - - G TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr6:29761783_29761784insG ENST00000457107.1 + 0 1009_1010 ggattggtgcaaagccctgctt 0.550 3 3 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 2 4 --- --- --- --- ANAPC7 51434 broad.mit.edu 37 12 110825686 110825686 + Frame_Shift_Del DEL G G - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr12:110825686delG ENST00000455511.3 - 5 634 c.634delC c.(634-636)ttfs p.L212fs RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 212 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 TTTACAGAAAGGGACAACAAG 0.473 11 16 --- --- --- --- IGHV1OR16-2 28314 broad.mit.edu 37 16 32989896 32989897 + RNA DEL TA TA - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr16:32989896_32989897delTA ENST00000567619.1 - 0 499 TCCACTCCTGTATTCTCTCCAC 0.510 3 6 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29496993 29496993 + Frame_Shift_Del DEL A A - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chr17:29496993delA ENST00000358273.4 + 5 947 c.564delA c.(562-564)gcfs p.A188fs NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 188 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGGATTGTGCAAAATTAAAAC 0.279 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 7 --- --- --- --- AMMECR1 9949 broad.mit.edu 37 X 109561207 109561209 + In_Frame_Del DEL GGA GGA - TCGA-RW-A688-01A-11D-A35D-08 TCGA-RW-A688-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32002a4c-c9a3-4ab1-a6cc-695063869c70 5307bd9a-86ad-4e6d-966c-b36eb7876991 g.chrX:109561207_109561209delGGA ENST00000262844.5 - 1 258_260 c.91_93delTCC c.(91-93)del p.S31del AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 31 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 CGCTGCAGTGGGAGGAGGAGGAG 0.680 3 5 --- --- --- ---