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 PKD1 5310 broad.mit.edu 37 16 2139950 2139950 + Silent SNP G G A rs148433208 byFrequency TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr16:2139950G>A ENST00000262304.4 - 46 12898 c.12690C>T c.(12688-12690)aaC>aaT p.N4230N PKD1_ENST00000423118.1_Silent_p.N4229N NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4230 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTGTGGCCTGGTTGAGTCGGT 0.687000 4 22 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105399118 105399118 + Silent SNP G G A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr14:105399118G>A ENST00000540372.1 + 11 1551 c.1359G>A c.(1357-1359)tcG>tcA p.S453S PLD4_ENST00000553861.1_Silent_p.S15S|PLD4_ENST00000392593.4_Silent_p.S446S Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 446 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) CCAACTGGTCGGAGGATTACT 0.736000 2 7 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 8 19 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24788316 24788316 + Missense_Mutation SNP G G A rs61741640 byFrequency TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr14:24788316G>A ENST00000310677.4 - 24 3057 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 982 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) ACTCGCAGGCGGAAGTTGTTG 0.567000 7 124 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801044 148801044 + Missense_Mutation SNP C C T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr7:148801044C>T ENST00000378061.2 - 4 2051 c.1919G>A c.(1918-1920)tGt>tAt p.C640Y NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 640 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCACATCACACAAGAGAATGG 0.537000 17 185 0 0 1 0 0 C16orf93 90835 broad.mit.edu 37 16 30770950 30770950 + Missense_Mutation SNP T T C rs62622830 byFrequency TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr16:30770950T>C ENST00000541260.1 - 5 895 c.565A>G c.(565-567)Aaa>Gaa p.K189E PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000563588.1_3'UTR A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 0 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 GGGTAAAGTTTCCAGAATGTT 0.532000 4 59 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21975457 21975457 + Missense_Mutation SNP T T C TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr5:21975457T>C ENST00000382254.1 - 6 1355 c.269A>G c.(268-270)aAa>aGa p.K90R CDH12_ENST00000504376.2_Missense_Mutation_p.K90R|CDH12_ENST00000522262.1_Missense_Mutation_p.K90R NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 90 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GAGGGTGTATTTCACAGTGCC 0.463000 HNSCC(59;0.17) 14 148 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27538569 27538569 + RNA SNP G G A rs11015624 by1000genomes TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr10:27538569G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CAGGTCCAAAGGTTGAACTGT 0.478000 12 245 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27893250 27893250 + Silent SNP G G A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr17:27893250G>A ENST00000307201.4 - 1 905 c.735C>T c.(733-735)tcC>tcT p.S245S RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 245 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 CGCCCAGGTAGGACAGGAGCA 0.711000 3 31 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833827 37833827 + Nonsense_Mutation SNP C C T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr21:37833827C>T ENST00000399137.1 - 3 1033 c.167G>A c.(166-168)tGg>tAg p.W56* AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56* NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 56 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 TGTGCTGTGCCACACACACTC 0.637000 5 41 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 76 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41123027 41123027 + Missense_Mutation SNP G G A rs35089561 TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr19:41123027G>A ENST00000308370.7 + 24 3167 c.3167G>A c.(3166-3168)cGg>cAg p.R1056Q LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1056 Cys-rich.|EGF-like 12; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCCGGAACCGGTCCTTCTGC 0.622000 3 30 0 0 1 0 0 AC007956.1 0 broad.mit.edu 37 14 75179734 75179734 + Missense_Mutation SNP C C G rs2270425 by1000genomes TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr14:75179734C>G ENST00000338772.5 - 1 66 c.67G>C c.(67-69)Gtt>Ctt p.V23L AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR CTCCCACCAACAGACCCCAGA 0.662000 3 18 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36268762 36268762 + Silent SNP T T G TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr19:36268762T>G ENST00000007510.4 + 3 285 c.141T>G c.(139-141)gcT>gcG p.A47A ARHGAP33_ENST00000314737.5_Silent_p.A47A|ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR O14559 RHG33_HUMAN Rho GTPase activating protein 33 47 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CGCGGCTGGCTGACTGCGCCC 0.592000 5 92 0 0 1 0 0 C19orf33 64073 broad.mit.edu 37 19 38795250 38795250 + Missense_Mutation SNP G G A rs45437199 by1000genomes TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr19:38795250G>A ENST00000588605.1 + 3 282 c.184G>A c.(184-186)Gca>Aca p.A62T C19orf33_ENST00000301246.5_Intron|CTB-102L5.4_ENST00000591889.1_Silent_p.P129P Q9GZP8 IMUP_HUMAN chromosome 19 open reading frame 33 0 nucleus all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTCACTGCCGCACCTCCATC 0.672000 3 30 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871094 170871094 + Silent SNP G G A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr6:170871094G>A ENST00000392092.2 + 3 549 c.270G>A c.(268-270)caG>caA p.Q90Q TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 90 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.622000 4 58 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 14 97 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 6 76 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169394121 169394121 + Silent SNP G G A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr1:169394121G>A ENST00000545005.1 - 3 552 c.45C>T c.(43-45)taC>taT p.Y15Y CCDC181_ENST00000367805.3_Silent_p.Y15Y|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Silent_p.Y15Y coiled-coil domain containing 181 AGTCATCTTCGTATTCTTCAC 0.289000 13 66 0 0 1 0 0 ENTPD5 957 broad.mit.edu 37 14 74442654 74442654 + Missense_Mutation SNP T T C TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr14:74442654T>C ENST00000334696.6 - 10 1026 c.707A>G c.(706-708)aAg>aGg p.K236R ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 236 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) TGTATAGAGCTTATAAGTGCT 0.378000 9 120 0 0 1 0 0 FAM86B2 653333 broad.mit.edu 37 8 12287928 12287928 + Silent SNP T T C TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr8:12287928T>C ENST00000262365.4 - 4 272 c.273A>G c.(271-273)aaA>aaG p.K91K FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron NM_001137610.1 NP_001131082.1 P0C5J1 F86B2_HUMAN family with sequence similarity 86, member B2 91 endometrium(1)|kidney(2) 3 CCTCGTACAGTTTGTCCAAAG 0.547000 4 52 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6599987 6599987 + Silent SNP G G A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr4:6599987G>A ENST00000285599.3 + 9 1347 c.1311G>A c.(1309-1311)acG>acA p.T437T MAN2B2_ENST00000504248.1_Silent_p.T386T NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 437 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TGTACGCAACGCACCTGGCCT 0.632000 6 95 0 0 1 0 0 HSPD1 3329 broad.mit.edu 37 2 198352636 198352636 + Silent SNP A A T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr2:198352636A>T ENST00000388968.3 - 11 1782 c.1515T>A c.(1513-1515)gcT>gcA p.A505A HSPD1_ENST00000345042.2_Silent_p.A505A NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 505 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) CTCCAGCCATAGCATCATAAC 0.348000 5 78 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379139 17379139 + Missense_Mutation SNP A A T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr7:17379139A>T ENST00000242057.4 + 10 2333 c.1690A>T c.(1690-1692)Aat>Tat p.N564Y AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 564 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) ATTTTTCAGAAATGATTTTTC 0.353000 33 112 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3801122 3801122 + Missense_Mutation SNP T T C rs34617528 byFrequency TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr17:3801122T>C ENST00000225538.3 - 12 1460 c.1186A>G c.(1186-1188)Atg>Gtg p.M396V NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 396 M -> V (in dbSNP:rs34617528). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GATGTCCTCATGTTCTCCTGC 0.647000 4 29 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065825 23065825 + Silent SNP C C T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr20:23065825C>T ENST00000246006.4 - 1 1152 c.1005G>A c.(1003-1005)caG>caA p.Q335Q NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 335 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCGAGTCCAGCTGGTACCCTT 0.637000 4 63 0 0 1 0 0 C10orf82 143379 broad.mit.edu 37 10 118424279 118424279 + Missense_Mutation SNP A A G TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr10:118424279A>G ENST00000369210.3 - 4 508 c.454T>C c.(454-456)Tat>Cat p.Y152H C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 152 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CACTCTTCATATGGTTTCAGA 0.527000 7 143 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950679 198950679 + Missense_Mutation SNP C C T TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr2:198950679C>T ENST00000428675.1 + 2 2836 c.2438C>T c.(2437-2439)aCg>aTg p.T813M PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 813 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.T715M(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GGGCAATATACGATACCATTT 0.443000 15 124 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070191 114070191 + Missense_Mutation SNP G G C TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr3:114070191G>C ENST00000462705.1 - 11 1336 c.515C>G c.(514-516)tCg>tGg p.S172W ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245W NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTAGAGTGCCGAGTAGATCCT 0.672000 13 104 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3716782 3716782 + Missense_Mutation SNP C C T rs144659895 byFrequency TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr11:3716782C>T ENST00000324932.7 - 26 4484 c.4064G>A c.(4063-4065)cGg>cAg p.R1355Q NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1372 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GAGCAGCTCCCGGACTGACTG 0.473000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 145 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125643940 125643940 + RNA SNP C C G rs143065094 by1000genomes TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr3:125643940C>G ENST00000485843.1 + 0 464 NR_024251.1 GACATGCCAGCTGTTCACCAC 0.662000 6 133 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145365372 145365372 + Missense_Mutation SNP C C G rs4126496 TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr1:145365372C>G ENST00000342960.5 + 80 10032 c.9997C>G c.(9997-9999)Ctt>Gtt p.L3333V NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3333 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTCAGGTTGTCTTGAACTGTG 0.488000 5 91 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50898008 50898008 + Silent SNP G G A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr22:50898008G>A ENST00000380817.2 - 27 3762 c.3579C>T c.(3577-3579)ccC>ccT p.P1193P SBF1_ENST00000390679.3_Silent_p.P1193P|SBF1_ENST00000348911.6_Silent_p.P1194P NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1193 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) AGCAGACCACGGGGAAGCGGT 0.677000 4 48 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 4 48 0 0 1 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13718582 13718582 + Frame_Shift_Del DEL G G - TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr1:13718582delG ENST00000376098.4 + 3 1071 c.1045delG c.(1045-1047)ctfs p.A349fs NM_001099851.1 NP_001093321.1 Q5VTA0 PRA17_HUMAN PRAME family member 17 349 kidney(1)|lung(2) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAAAGTTGCTGCTACTCTCGA 0.547 6 7 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16958130 16958131 + RNA DEL AA AA - TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr1:16958130_16958131delAA ENST00000412962.1 - 0 74 TGAGGGAGACAAAGAGTGGTCG 0.624 3 4 --- --- --- --- GPX1 2876 broad.mit.edu 37 3 49395674 49395676 + In_Frame_Del DEL GCC GCC - rs56041243 TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr3:49395674_49395676delGCC ENST00000419783.1 - 1 357_359 c.36_38delGGC c.(34-39)gcc>gc p.AA12del GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 12 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding p.A12_A13delAA(1) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccg 0.690 4 4 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 3 4 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77492681 77492681 + Frame_Shift_Del DEL G G - TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr14:77492681delG ENST00000238647.3 - 1 2353 c.1455delC c.(1453-1455)ttfs p.F485fs NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 485 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 CGCCCTCCTTGAAGAAGCGCA 0.662 5 9 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 7 133 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HT-7881-01A-11D-2395-08 TCGA-HT-7881-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26 dc36499d-6903-4254-bbcd-e9dbc544951f g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 3 6 --- --- --- ---