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 CES1P1 0 broad.mit.edu 37 16 55794587 55794587 + RNA SNP G G T rs151262919 by1000genomes TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr16:55794587G>T ENST00000571348.1 + 0 77 NR_003276.2 GGCCACTCTCGCTGCTTCCGC 0.597000 3 26 1 1 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95519360 95519360 + RNA SNP G G T rs77762483 TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr2:95519360G>T ENST00000432432.2 - 0 353 NR_040113.1 p.Q82K(2) GTGACCACTTGCACATGGCCA 0.393000 8 170 1.08611e-07 1.21644e-07 1 1 0 AJAP1 55966 broad.mit.edu 37 1 4832438 4832438 + Missense_Mutation SNP G G A TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr1:4832438G>A ENST00000378191.4 + 4 1397 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q AJAP1_ENST00000378190.3_Missense_Mutation_p.R339Q NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 339 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCCTCGGCCCGGGTGCCCAGC 0.617000 4 43 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122612090 122612090 + Missense_Mutation SNP T T G TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr10:122612090T>G ENST00000263461.6 + 2 387 c.141T>G c.(139-141)gaT>gaG p.D47E NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 47 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TAGTGATTGATTCCATTACTG 0.368000 15 22 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1374010 1374010 + Missense_Mutation SNP C C T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr4:1374010C>T ENST00000389851.4 + 11 2191 c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W UVSSA_ENST00000511563.1_Missense_Mutation_p.R133W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R582W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R582W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R133W NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 582 GCGCCAAGACCGGCTGAAGGT 0.716000 3 23 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 18 0 0 1 0 0 TBXA2R 0 broad.mit.edu 37 19 3600480 3600480 + Silent SNP G G A TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr19:3600480G>A ENST00000375190.4 - 2 546 c.153C>T c.(151-153)ggC>ggT p.G51G TBXA2R_ENST00000589966.1_Silent_p.G51G|TBXA2R_ENST00000411851.3_Silent_p.G51G NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 51 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CCTGCCGCGCGCCCGCCAGCA 0.706000 7 19 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120169033 120169033 + Silent SNP C C T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr11:120169033C>T ENST00000260264.4 + 4 232 c.198C>T c.(196-198)caC>caT p.H66H POU2F3_ENST00000543440.2_Silent_p.H64H NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 64 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GGCCATGCCACCTGAGTCAAG 0.537000 61 151 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr16:90162340C>T ENST00000564451.1 + 0 1693 TUBB8P7_ENST00000567960.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 6 110 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65743407 65743407 + Missense_Mutation SNP T T G TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr15:65743407T>G ENST00000341861.5 - 19 4084 c.2504A>C c.(2503-2505)aAt>aCt p.N835T DPP8_ENST00000339244.5_Missense_Mutation_p.N662T|DPP8_ENST00000321118.7_Missense_Mutation_p.N786T|DPP8_ENST00000321147.6_Missense_Mutation_p.N784T|DPP8_ENST00000300141.6_Missense_Mutation_p.N819T|DPP8_ENST00000358939.4_Missense_Mutation_p.N719T|DPP8_ENST00000559233.1_Missense_Mutation_p.N835T|DPP8_ENST00000560048.2_5'UTR NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 835 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AAAATGGACATTCTCATCCAG 0.358000 37 78 0 0 1 0 0 IGHV3-9 0 broad.mit.edu 37 14 106552349 106552349 + RNA SNP G G C TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr14:106552349G>C ENST00000390600.2 - 0 369 CAGATACAGGGAGTTCTTGGC 0.502000 75 140 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60344525 60344525 + RNA SNP G G A rs72488592 by1000genomes TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr17:60344525G>A ENST00000581291.1 - 0 979 breast(2)|kidney(1)|lung(2) 5 TTTTGTTATCGGCATGAACGC 0.607000 7 175 0 0 1 0 0 GNAO1 2775 broad.mit.edu 37 16 56309933 56309933 + Silent SNP C C T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr16:56309933C>T ENST00000262494.7 + 3 512 c.252C>T c.(250-252)atC>atT p.I84I GNAO1_ENST00000262493.6_Silent_p.I84I NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 84 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) TGGCAGCCATCGTCCGGGCCA 0.502000 12 44 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 5 7 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 3 5 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 2 4 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22892202 22892202 + RNA DEL A A - TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr14:22892202delA ENST00000514473.2 - 0 225 AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA ctaaaaatacaaaaaaaaaaa 0.547 4 6 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 7 224 --- --- --- ---