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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 5 10 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182780777 182780777 + Missense_Mutation SNP C C G TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr2:182780777C>G ENST00000431877.2 + 11 2589 c.2410C>G c.(2410-2412)Cca>Gca p.P804A SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 804 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TTTCATCTCTCCATCATCTGT 0.502000 3 56 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3681544 3681544 + Silent SNP C C T TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr11:3681544C>T ENST00000250693.1 + 3 896 c.795C>T c.(793-795)taC>taT p.Y265Y NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 265 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) CCCGCATCTACCTCCGAGCCC 0.607000 7 86 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152534214 152534214 + Silent SNP G G A rs74320183 by1000genomes TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr2:152534214G>A ENST00000427231.2 - 34 3841 c.3639C>T c.(3637-3639)gtC>gtT p.V1213V NEB_ENST00000604864.1_Silent_p.V1213V|NEB_ENST00000397345.3_Silent_p.V1213V|NEB_ENST00000603639.1_Silent_p.V1213V|NEB_ENST00000172853.10_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1213 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAACTTTTTCGACGTCGAGAC 0.458000 26 208 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425070 49425070 + Missense_Mutation SNP T T G TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr12:49425070T>G ENST00000301067.7 - 39 13417 c.13418A>C c.(13417-13419)cAa>cCa p.Q4473P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGTGCTGAGTTGCACATTCTT 0.617000 25 105 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051424 96051424 + Missense_Mutation SNP C C A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr9:96051424C>A ENST00000297954.4 + 20 4499 c.4499C>A c.(4498-4500)gCc>gAc p.A1500D WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1500 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCAGAGGCTGCCTCAACCAGG 0.687000 3 31 0.115264 0.115264 1 1 0 SCN3A 6328 broad.mit.edu 37 2 166012411 166012411 + Missense_Mutation SNP T T C TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr2:166012411T>C ENST00000360093.3 - 10 1525 c.1034A>G c.(1033-1035)cAg>cGg p.Q345R SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 345 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTCTGGACACTGGCTATAAGA 0.408000 6 82 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475639 75475639 + RNA SNP T T C TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr3:75475639T>C ENST00000459803.1 - 0 890 NR_024241.1 p.H284R(1) CTCTGGGTTGTGGACGGTAAA 0.662000 4 146 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120965 38120965 + Missense_Mutation SNP T T C TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr22:38120965T>C ENST00000406386.3 + 7 2657 c.2402T>C c.(2401-2403)cTc>cCc p.L801P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 801 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CGGGACAATCTCAGAGCCTCC 0.537000 4 119 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 4 13 3.59834e-05 3.93568e-05 1 1 0 IL22RA1 58985 broad.mit.edu 37 1 24460805 24460805 + Missense_Mutation SNP G G C TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:24460805G>C ENST00000270800.1 - 4 465 c.427C>G c.(427-429)Ccc>Gcc p.P143A NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 143 Fibronectin type-III 2. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) ATTGGCGTGGGGGTAGGATGA 0.522000 12 48 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159603573 159603573 + Silent SNP G G A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr4:159603573G>A ENST00000511912.1 + 3 734 c.402G>A c.(400-402)aaG>aaA p.K134K ETFDH_ENST00000307738.5_Silent_p.K87K NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 134 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) GGAAAGAGAAGGGGGTATGAA 0.388000 21 55 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123107220 123107220 + Missense_Mutation SNP A A G TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr4:123107220A>G ENST00000264501.4 + 7 761 c.388A>G c.(388-390)Aca>Gca p.T130A KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A Q2LD37 K1109_HUMAN KIAA1109 130 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTATACATCACAGTCAATGA 0.333000 16 56 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 19 30 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 5 48 0 0 1 0 0 CALHM2 51063 broad.mit.edu 37 10 105209278 105209278 + Missense_Mutation SNP G G A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr10:105209278G>A ENST00000393235.1 - 3 1618 c.421C>T c.(421-423)Ctc>Ttc p.L141F CALHM2_ENST00000260743.5_Missense_Mutation_p.L141F|CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 141 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 CTGGCCGTGAGTGAGGAAGGG 0.607000 30 108 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72969169 72969169 + Nonsense_Mutation SNP G G A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr8:72969169G>A ENST00000262209.4 - 10 1384 c.1177C>T c.(1177-1179)Cga>Tga p.R393* NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 393 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AATTCAGGTCGCAGATTTTTT 0.294000 7 10 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 9 162 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr6:87725488G>A ENST00000305344.4 + 2 1139 c.436G>A c.(436-438)Gtc>Atc p.V146I HTR1E_ENST00000369584.1_Missense_Mutation_p.V146I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 146 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.V146I(2) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GATCCTTACCGTCTGGACCAT 0.582000 8 124 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 15 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123336539 123336539 + Missense_Mutation SNP G G A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr4:123336539G>A ENST00000296513.2 + 11 1440 c.1255G>A c.(1255-1257)Ggg>Agg p.G419R ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R|ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 419 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCTAGGTGATGGGAATTGCAG 0.348000 9 59 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45400708 45400708 + Missense_Mutation SNP C C A TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr14:45400708C>A ENST00000396128.4 - 4 1499 c.1380G>T c.(1378-1380)gaG>gaT p.E460D KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 460 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ATGCAACCATCTCCCAGGAGT 0.393000 3 39 6.4e-05 6.78788e-05 1 1 0 TP53 7157 broad.mit.edu 37 17 7578449 7578449 + Missense_Mutation SNP C C T TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr17:7578449C>T ENST00000420246.2 - 5 613 c.481G>A c.(481-483)Gcc>Acc p.A161T TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000269305.4_Missense_Mutation_p.A161T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 161 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGTAGATGGCCATGGCGCGG 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 54 37 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 44 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 5 50 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30653858 30653858 + Silent SNP A A C TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr10:30653858A>C ENST00000358107.4 - 2 323 c.324T>G c.(322-324)ggT>ggG p.G108G MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 0 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 cacccaccccacccccacccc 0.642000 5 13 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118554864 118554874 + Frame_Shift_Del DEL ATCTGGCAGAA ATCTGGCAGAA - TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:118554864_118554874delATCTGGCAGAA ENST00000336338.5 - 30 4474_4484 c.4409_4419delTTCTGCCAGAT c.(4408-4419)afs p.ILPD1470fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1470 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTCTTGATCATCTGGCAGAATAATTTGATC 0.336 7 40 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 8 153 --- --- --- --- ZNF281 23528 broad.mit.edu 37 1 200378559 200378559 + Frame_Shift_Del DEL G G - TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:200378559delG ENST00000294740.2 - 2 399 c.275delC c.(274-276)ctfs p.P94fs ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs|ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 94 Poly-Pro. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P93fs*34(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 GGCTGGCGGAGGGGGGGGCTC 0.706 2 4 --- --- --- --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 8 236 --- --- --- --- MOXD1 26002 broad.mit.edu 37 6 132722520 132722520 + Frame_Shift_Del DEL T T - TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr6:132722520delT ENST00000367963.3 - 1 164 c.46delA c.(46-48)cgfs p.T16fs MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 16 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CCCGCCGCCGTCCCGGGGAGC 0.746 2 4 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 6 4 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 6 2 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284600 14284601 + RNA DEL AA AA - rs79477301 TCGA-HT-8111-01A-11D-2395-08 TCGA-HT-8111-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1dba9345-2d78-4d00-9509-c30b2e197e07 dbc20e74-6c64-49a3-ad8a-461ce0c26b71 g.chr11:14284600_14284601delAA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGACCTGTTTaaaaaaaaaaaa 0.465 3 5 --- --- --- ---