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 CRB1 23418 broad.mit.edu 37 1 197313415 197313415 + Silent SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:197313415A>G ENST00000367400.3 + 3 792 c.657A>G c.(655-657)gtA>gtG p.V219V CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.V219V NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 219 EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.V219V(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAAAAGGTGTAAACTGTGAAT 0.398000 46 130 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44612405 44612405 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr19:44612405C>T ENST00000336976.6 + 6 2346 c.2092C>T c.(2092-2094)Cat>Tat p.H698Y AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 698 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) CCTTCGACTTCATCAGAATGT 0.418000 18 11 0 0 1 0 0 ODC1 4953 broad.mit.edu 37 2 10581774 10581774 + Nonsense_Mutation SNP C C A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:10581774C>A ENST00000234111.4 - 11 1612 c.1102G>T c.(1102-1104)Gag>Tag p.E368* ODC1_ENST00000405333.1_Nonsense_Mutation_p.E368* NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 368 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) TCACAGCGCTCAACAATCCGA 0.473000 30 42 1.99505e-19 2.15557e-19 1 1 0 HECTD1 25831 broad.mit.edu 37 14 31576229 31576229 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr14:31576229C>G ENST00000399332.1 - 38 7337 c.6849G>C c.(6847-6849)atG>atC p.M2283I HECTD1_ENST00000553700.1_Missense_Mutation_p.M2283I NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2283 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCAGTTTACTCATATTGCTTT 0.363000 27 31 0 0 1 0 0 FEM1C 56929 broad.mit.edu 37 5 114860685 114860685 + Missense_Mutation SNP A A T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr5:114860685A>T ENST00000274457.3 - 3 1735 c.1174T>A c.(1174-1176)Ttt>Att p.F392I NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 392 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) TGTAGCATAAAGGAGAATAGT 0.433000 19 36 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115231273 115231273 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:115231273C>G ENST00000369538.3 - 2 258 c.211G>C c.(211-213)Gat>Cat p.D71H AMPD1_ENST00000353928.6_Missense_Mutation_p.D42H|AMPD1_ENST00000520113.2_Missense_Mutation_p.D75H NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 42 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCATCCACATCAAAGGGGGAA 0.453000 15 122 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152534599 152534599 + Missense_Mutation SNP T T A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:152534599T>A ENST00000427231.2 - 33 3560 c.3358A>T c.(3358-3360)Ata>Tta p.I1120L NEB_ENST00000604864.1_Missense_Mutation_p.I1120L|NEB_ENST00000603639.1_Missense_Mutation_p.I1120L|NEB_ENST00000409198.1_Missense_Mutation_p.I1120L|NEB_ENST00000397345.3_Missense_Mutation_p.I1120L|NEB_ENST00000172853.10_Missense_Mutation_p.I1120L NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 1120 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) TCTGATTGTATCTTGGCCACG 0.403000 7 15 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112796 81112796 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr12:81112796C>T ENST00000228644.3 + 3 886 c.734C>T c.(733-735)gCt>gTt p.A245V NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 245 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 ACTCCAGGGGCTTCTAGTTCC 0.502000 9 56 0 0 1 0 0 PPM1J 333926 broad.mit.edu 37 1 113254634 113254634 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:113254634C>G ENST00000464951.1 - 6 1676 c.268G>C c.(268-270)Gag>Cag p.E90Q PPM1J_ENST00000359994.4_Missense_Mutation_p.E90Q|PPM1J_ENST00000309276.6_Missense_Mutation_p.E296Q Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 296 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGTAAACTCCCGGGACATT 0.517000 11 12 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43223456 43223456 + Nonsense_Mutation SNP C C A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:43223456C>A ENST00000236040.4 - 5 1118 c.1078G>T c.(1078-1080)Gag>Tag p.E360* LEPRE1_ENST00000397054.3_Nonsense_Mutation_p.E360*|LEPRE1_ENST00000296388.5_Nonsense_Mutation_p.E360* NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 360 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTCTCACCTCACGGGGGCCG 0.537000 OREG0013423 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 75 7.46257e-40 8.15676e-40 1 1 0 LMTK3 114783 broad.mit.edu 37 19 49012112 49012112 + Missense_Mutation SNP A A C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr19:49012112A>C ENST00000600059.1 - 5 780 c.553T>G c.(553-555)Tac>Gac p.Y185D LMTK3_ENST00000270238.3_Missense_Mutation_p.Y214D lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CAGTACCTGTACGGCTGTGCT 0.582000 5 54 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 3 58 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165523 172165523 + Nonsense_Mutation SNP A A T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr3:172165523A>T ENST00000241256.2 - 1 723 c.681T>A c.(679-681)tgT>tgA p.C227* GHSR_ENST00000427970.1_Nonsense_Mutation_p.C227* NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 227 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GGACCGTGAGACAGAAGACAG 0.607000 13 39 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5661536 5661536 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr19:5661536C>T ENST00000292123.5 + 15 1977 c.1870C>T c.(1870-1872)Cgt>Tgt p.R624C SAFB_ENST00000538656.1_Missense_Mutation_p.R466C|SAFB_ENST00000454510.1_Missense_Mutation_p.R555C|SAFB_ENST00000433404.1_Missense_Mutation_p.R454C|SAFB_ENST00000588852.1_Missense_Mutation_p.R624C|SAFB_ENST00000592224.1_Missense_Mutation_p.R623C NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 624 Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CAGCAGGGTGCGTGAACGCAG 0.632000 10 26 0 0 1 0 0 ZNF460 10794 broad.mit.edu 37 19 57803580 57803580 + Silent SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr19:57803580A>G ENST00000360338.3 + 3 1993 c.1671A>G c.(1669-1671)gaA>gaG p.E557E ZNF460_ENST00000537645.1_Silent_p.E516E NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCATAGTGGAAGAAACCCTAC 0.413000 11 80 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693464 94693464 + Missense_Mutation SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr4:94693464A>G ENST00000282020.4 + 16 3097 c.2839A>G c.(2839-2841)Aaa>Gaa p.K947E GRID2_ENST00000510992.1_Missense_Mutation_p.K852E NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 947 Interaction with AP4M1 (By similarity). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACTGTCAGCTAAAGCTGCTTC 0.483000 14 46 0 0 1 0 0 GLOD5 392465 broad.mit.edu 37 X 48631836 48631836 + Missense_Mutation SNP C C A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:48631836C>A ENST00000303227.6 + 4 509 c.468C>A c.(466-468)aaC>aaA p.N156K GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 AGGTGTCCAACTACATCTCCT 0.567000 29 51 2.80507e-11 2.96266e-11 1 1 0 PRICKLE1 144165 broad.mit.edu 37 12 42853988 42853988 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr12:42853988C>T ENST00000455697.1 - 8 2404 c.2119G>A c.(2119-2121)Gat>Aat p.D707N PRICKLE1_ENST00000552240.1_Missense_Mutation_p.D707N|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.D707N|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.D707N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.D707N NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 707 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TCATAGTTATCGGGGGTGTAC 0.498000 35 61 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869998 36869998 + Missense_Mutation SNP T T A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr20:36869998T>A ENST00000279024.4 - 3 806 c.535A>T c.(535-537)Acc>Tcc p.T179S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 179 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GTTATCTTGGTCCAAGGCACA 0.532000 16 103 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201984342 201984342 + Missense_Mutation SNP A A T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:201984342A>T ENST00000359651.3 + 8 4199 c.1007A>T c.(1006-1008)tAc>tTc p.Y336F ELF3_ENST00000367284.5_Missense_Mutation_p.Y336F|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.Y336F P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 336 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CCCAGGTACTACTACAAACGG 0.592000 33 33 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196234787 196234787 + Missense_Mutation SNP C C T rs62410569 TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr3:196234787C>T ENST00000397537.2 - 3 772 c.616G>A c.(616-618)Gaa>Aaa p.E206K NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 atcaaCTCTTCGAGGGATGAC 0.443000 7 19 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 48 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 374 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30728018 30728018 + Nonsense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr10:30728018C>T ENST00000263056.1 + 3 847 c.151C>T c.(151-153)Caa>Taa p.Q51* MAP3K8_ENST00000375321.1_Nonsense_Mutation_p.Q51*|MAP3K8_ENST00000542547.1_Nonsense_Mutation_p.Q51*|MAP3K8_ENST00000375322.2_Nonsense_Mutation_p.Q51* NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 51 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) GACCATGTGTCAAGACAGTAA 0.388000 10 45 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154194915 154194915 + Missense_Mutation SNP G G T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:154194915G>T ENST00000360256.4 - 8 1257 c.1057C>A c.(1057-1059)Caa>Aaa p.Q353K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 353 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATTCGTAGTTGGGGTTCCTCT 0.413000 18 43 5.03518e-11 5.25897e-11 1 1 0 GPRIN1 114787 broad.mit.edu 37 5 176025449 176025449 + Missense_Mutation SNP T T A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr5:176025449T>A ENST00000303991.4 - 2 1564 c.1387A>T c.(1387-1389)Agg>Tgg p.R463W NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 463 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGTCCTCCCTTCTGGAGGAC 0.522000 23 41 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103797741 103797741 + Missense_Mutation SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr11:103797741A>G ENST00000302251.5 - 6 1319 c.868T>C c.(868-870)Tgc>Cgc p.C290R PDGFD_ENST00000393158.2_Missense_Mutation_p.C296R NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 296 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) ACGAGGAGGCAACGTGGAAAG 0.483000 36 6 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31576197 31576197 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr14:31576197C>T ENST00000399332.1 - 38 7369 c.6881G>A c.(6880-6882)aGa>aAa p.R2294K HECTD1_ENST00000553700.1_Missense_Mutation_p.R2294K NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2294 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGTAAGTCTCTATCACCTCG 0.358000 27 32 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139305249 139305249 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr7:139305249C>T ENST00000406875.3 - 7 1774 c.1680G>A c.(1678-1680)acG>acA p.T560T HIPK2_ENST00000428878.2_Silent_p.T560T|HIPK2_ENST00000342645.6_Silent_p.T560T NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 560 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TCTGGTTCACCGTGTCATACA 0.507000 OREG0018361 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 106 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49068425 49068425 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:49068425C>T ENST00000376265.2 - 35 4127 c.4066G>A c.(4066-4068)Gat>Aat p.D1356N CACNA1F_ENST00000376251.1_Missense_Mutation_p.D1291N|CACNA1F_ENST00000323022.5_Missense_Mutation_p.D1345N NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1356 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGTGTGCCATCCTGAAGAGCC 0.517000 37 49 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268148 21268148 + Missense_Mutation SNP G G A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:21268148G>A ENST00000602326.1 - 12 1932 c.1349C>T c.(1348-1350)gCt>gTt p.A450V EIF4G3_ENST00000356916.3_Missense_Mutation_p.A455V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A450V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A444V|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A444V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A48V|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A444V NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 444 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGTGATGGCAGCACTCGGAGA 0.488000 4 151 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57241992 57241992 + Missense_Mutation SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr16:57241992A>G ENST00000537866.1 + 3 1246 c.373A>G c.(373-375)Atg>Gtg p.M125V RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125V Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 125 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 TCCCTATTCAATGATAACATT 0.299000 72 109 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237540653 237540653 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:237540653C>T ENST00000366574.2 + 8 811 c.494C>T c.(493-495)gCc>gTc p.A165V RYR2_ENST00000542537.1_Missense_Mutation_p.A149V|RYR2_ENST00000360064.6_Missense_Mutation_p.A163V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 165 MIR 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATACACCCTGCCTCTAAGCAG 0.423000 6 18 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689632 88689632 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr16:88689632C>T ENST00000301011.5 + 10 1873 c.1673C>T c.(1672-1674)tCt>tTt p.S558F ZC3H18_ENST00000452588.2_Missense_Mutation_p.S582F NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 558 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCCAGGTCGTCTTCGCGGTCA 0.657000 3 32 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349435 150349435 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:150349435C>G ENST00000218316.3 + 2 1449 c.1380C>G c.(1378-1380)ttC>ttG p.F460L NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 460 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTGTCCATTTCAAGCCTGACT 0.547000 57 226 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 32 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766241 77766241 + Missense_Mutation SNP A A C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr8:77766241A>C ENST00000521891.2 + 10 7532 c.7084A>C c.(7084-7086)Aag>Cag p.K2362Q ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2336Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2317Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2317Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2317 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGGTATACAAGCATTGCAC 0.502000 HNSCC(33;0.089) 39 171 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969350 140969350 + Missense_Mutation SNP T T C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:140969350T>C ENST00000298296.1 + 4 677 c.677T>C c.(676-678)tTc>tCc p.F226S MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 226 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCTATGATCTTCAGGAAAGCC 0.433000 69 76 0 0 1 0 0 RNF121 55298 broad.mit.edu 37 11 71698077 71698077 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr11:71698077C>T ENST00000361756.3 + 5 787 c.426C>T c.(424-426)atC>atT p.I142I RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Silent_p.I61I|RNF121_ENST00000530137.1_Silent_p.I110I|RNF121_ENST00000393713.3_Silent_p.I110I|RNF121_ENST00000490867.1_3'UTR NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 142 integral to membrane zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 TCCTGCTAATCTATAAAATCA 0.428000 28 65 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135821 55135821 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr11:55135821C>T ENST00000314706.3 + 1 462 c.462C>T c.(460-462)atC>atT p.I154I NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ACATGGCCATCTGTAAGCCTC 0.438000 68 148 0 0 1 0 0 PYCARD 29108 broad.mit.edu 37 16 31213094 31213094 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr16:31213094C>T ENST00000247470.9 - 3 701 c.400G>A c.(400-402)Gat>Aat p.D134N PYCARD_ENST00000350605.4_Missense_Mutation_p.D115N NM_013258.4 NP_037390.2 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing 134 CARD. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding NS(1)|kidney(1) 2 TACAGAGCATCCAGCAGCCAC 0.602000 36 45 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91526743 91526743 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr14:91526743C>T ENST00000261991.3 - 1 209 c.36G>A c.(34-36)gcG>gcA p.A12A RPS6KA5_ENST00000418736.2_Silent_p.A12A NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 12 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CGCTGGTCCCCGCGGCGCCGC 0.716000 4 4 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37834811 37834811 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr5:37834811C>T ENST00000326524.2 - 2 287 c.88G>A c.(88-90)Gag>Aag p.E30K GDNF_ENST00000381826.4_Intron|GDNF_ENST00000427982.1_Missense_Mutation_p.E47K|GDNF_ENST00000515058.1_Intron|GDNF_ENST00000344622.4_Intron NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 30 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) GCGGGCGCCTCGGGAGGCCTC 0.706000 4 10 0 0 1 0 0 SPIN3 169981 broad.mit.edu 37 X 57021212 57021212 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:57021212C>T ENST00000374919.3 - 2 491 c.169G>A c.(169-171)Gga>Aga p.G57R NM_001010862.2 NP_001010862.2 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 57 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 TCTTTCCATCCGTGCTGAATT 0.488000 39 120 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112844607 112844607 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr12:112844607C>T ENST00000424576.2 - 4 609 c.424G>A c.(424-426)Gcc>Acc p.A142T RPL6_ENST00000202773.9_Missense_Mutation_p.A142T NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 142 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 GTAATGCTGGCTCGCAGTTTT 0.557000 9 43 0 0 1 0 0 CELA1 1990 broad.mit.edu 37 12 51723536 51723536 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr12:51723536C>T ENST00000293636.1 - 7 731 c.691G>A c.(691-693)Ggc>Agc p.G231S NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 231 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 ACATTACAGCCCCGGCTGGAC 0.522000 25 41 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25003680 25003680 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr20:25003680C>T ENST00000537502.1 - 3 2138 c.607G>A c.(607-609)Gag>Aag p.E203K ACSS1_ENST00000323482.4_Missense_Mutation_p.E286K|ACSS1_ENST00000432802.2_Missense_Mutation_p.E286K|ACSS1_ENST00000542618.1_Missense_Mutation_p.E165K Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 286 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGCATGTCCTCACTGCCCATG 0.597000 21 26 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53237368 53237368 + Silent SNP T T C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:53237368T>C ENST00000294353.6 + 3 1018 c.873T>C c.(871-873)cgT>cgC p.R291R ZYG11B_ENST00000443756.2_Silent_p.R291R|ZYG11B_ENST00000545132.1_Silent_p.R291R NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 291 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 TACAACAACGTCCAAGCATGC 0.403000 55 54 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17089531 17089531 + Missense_Mutation SNP T T A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr10:17089531T>A ENST00000377833.4 - 23 3276 c.3211A>T c.(3211-3213)Aac>Tac p.N1071Y NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1071 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATTCCCAGTTGTTGGGATAA 0.423000 25 39 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8218509 8218509 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr17:8218509C>G ENST00000361926.3 + 6 1284 c.1174C>G c.(1174-1176)Cgc>Ggc p.R392G ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R392G NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 392 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCCTGGACCTCGCAACACCCT 0.647000 7 14 0 0 1 0 0 TMEM30A 55754 broad.mit.edu 37 6 75968519 75968519 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr6:75968519C>T ENST00000230461.6 - 6 1198 c.869G>A c.(868-870)cGa>cAa p.R290Q TMEM30A_ENST00000475111.2_Missense_Mutation_p.R254Q|TMEM30A_ENST00000370050.5_Missense_Mutation_p.R171Q NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 290 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAAAGAGTATCGGCCAGCTGG 0.393000 14 24 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84104237 84104237 + Missense_Mutation SNP G G C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr16:84104237G>C ENST00000343411.3 - 13 2233 c.1738C>G c.(1738-1740)Cag>Gag p.Q580E NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 580 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 ACATGGCCCTGAGCAATGCCT 0.527000 13 79 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70405437 70405437 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr10:70405437C>T ENST00000373644.4 + 4 3160 c.2951C>T c.(2950-2952)tCa>tTa p.S984L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 984 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CATATCAACTCAGCTACTAAC 0.358000 38 26 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38958617 38958617 + Missense_Mutation SNP T T C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr5:38958617T>C ENST00000357387.3 - 24 2378 c.2348A>G c.(2347-2349)aAt>aGt p.N783S RICTOR_ENST00000296782.5_Missense_Mutation_p.N783S|RICTOR_ENST00000503698.1_5'UTR NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 783 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AGCATGAAGATTGGCCTAAAA 0.308000 12 49 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116525965 116525965 + Silent SNP T T C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:116525965T>C ENST00000410059.1 + 13 1686 c.1206T>C c.(1204-1206)gcT>gcC p.A402A DPP10_ENST00000393147.2_Silent_p.A406A|DPP10_ENST00000409163.1_Silent_p.A352A|DPP10_ENST00000310323.8_Silent_p.A395A NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 402 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ACCACGTAGCTATGTTCCTCA 0.453000 24 17 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23383371 23383371 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr7:23383371C>T ENST00000258729.3 - 9 1399 c.1043G>A c.(1042-1044)aGg>aAg p.R348K NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 348 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 ATAAGACTCCCTGATTTTCTT 0.343000 18 115 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15928166 15928166 + Missense_Mutation SNP C C G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr5:15928166C>G ENST00000504595.1 + 3 776 c.295C>G c.(295-297)Ccg>Gcg p.P99A FBXL7_ENST00000510662.1_Missense_Mutation_p.P52A|FBXL7_ENST00000329673.7_Missense_Mutation_p.P87A NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 99 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCTCACACACCCGCTCATCCG 0.652000 5 11 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103353216 103353216 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:103353216C>T ENST00000258436.5 - 1 97 c.54G>A c.(52-54)gaG>gaA p.E18E NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 18 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GCTCTGCGGTCTCCGAGACCA 0.692000 16 10 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 5 181 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691849 31691849 + Silent SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr21:31691849A>G ENST00000360542.3 - 1 758 c.505T>C c.(505-507)Ttg>Ctg p.L169L NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 169 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 CGATAGGCCAAGCAACTCGAG 0.557000 80 114 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 3 52 0 0 1 0 0 EPS8L2 64787 broad.mit.edu 37 11 720123 720123 + Missense_Mutation SNP G G A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr11:720123G>A ENST00000533256.1 + 6 602 c.227G>A c.(226-228)cGg>cAg p.R76Q AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.R76Q|EPS8L2_ENST00000526198.1_Missense_Mutation_p.R76Q|EPS8L2_ENST00000530636.1_Missense_Mutation_p.R76Q Q9H6S3 ES8L2_HUMAN EPS8-like 2 76 PID. cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACGCCATCCGGAAGCTGGTG 0.617000 6 16 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136111039 136111039 + Nonsense_Mutation SNP G G A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:136111039G>A ENST00000401392.1 - 4 552 c.340C>T c.(340-342)Cag>Tag p.Q114* ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.Q114*|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.Q114* Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 114 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GTTTTATTCTGAATAACATTG 0.358000 13 9 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34505471 34505471 + Missense_Mutation SNP G G C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr20:34505471G>C ENST00000374012.3 + 13 2020 c.1891G>C c.(1891-1893)Gat>Cat p.D631H PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GTATGGCCAAGATGTGGATGT 0.473000 25 28 0 0 1 0 0 DONSON 29980 broad.mit.edu 37 21 34953734 34953734 + Silent SNP G G A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr21:34953734G>A ENST00000453626.1 - 8 1228 c.1224C>T c.(1222-1224)acC>acT p.T408T DONSON_ENST00000432378.1_Silent_p.T408T|DONSON_ENST00000303071.5_Silent_p.T408T|DONSON_ENST00000303113.6_Silent_p.T394T Q9NYP3 DONS_HUMAN downstream neighbor of SON 408 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 GCAATGTAAAGGTGTTGATTC 0.413000 10 23 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313398 1313398 + Missense_Mutation SNP C C A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr6:1313398C>A ENST00000296839.2 + 1 724 c.459C>A c.(457-459)ttC>ttA p.F153L NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 153 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|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|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TGGGCAAGTTCCCCTTTTTCC 0.657000 19 16 4.96729e-08 5.13105e-08 1 1 0 KCNE4 23704 broad.mit.edu 37 2 223918016 223918016 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:223918016C>T ENST00000281830.3 + 2 952 c.621C>T c.(619-621)aaC>aaT p.N207N KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Silent_p.N156N Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 156 integral to membrane voltage-gated potassium channel activity large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CGCCCCTCAACGAGAGCAGCG 0.627000 7 7 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730107 96730107 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr14:96730107C>T ENST00000216629.6 + 3 694 c.88C>T c.(88-90)Cca>Tca p.P30S RP11-404P21.3_ENST00000553638.1_RNA|RP11-404P21.8_ENST00000555847.1_3'UTR|BDKRB1_ENST00000553356.1_Missense_Mutation_p.P30S|RP11-404P21.8_ENST00000553811.1_3'UTR NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 30 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TGACAATGCTCCAGAAGCCTG 0.537000 22 17 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803746 142803746 + RNA SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:142803746A>G ENST00000423385.1 - 0 1219 actatggattagagctgatta 0.393000 3 4 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647363 20647363 + Missense_Mutation SNP T T G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:20647363T>G ENST00000272233.4 + 1 529 c.137T>G c.(136-138)aTt>aGt p.I46S NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 46 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GTGGCCGACATTGAGGTGGAC 0.652000 48 48 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51780819 51780819 + Silent SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr15:51780819C>T ENST00000251076.5 - 21 5264 c.4977G>A c.(4975-4977)agG>agA p.R1659R RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.R1023R|DMXL2_ENST00000543779.2_Silent_p.R1659R NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1659 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CATCATTGTTCCTTTGAAAAG 0.333000 13 43 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11786764 11786764 + Missense_Mutation SNP C C T TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:11786764C>T ENST00000380693.3 + 9 1383 c.746C>T c.(745-747)gCt>gTt p.A249V MSL3_ENST00000398527.2_Missense_Mutation_p.A403V|MSL3_ENST00000361672.2_Missense_Mutation_p.A266V|MSL3_ENST00000312196.4_Missense_Mutation_p.A415V|MSL3_ENST00000467141.1_3'UTR NM_006800.3 NP_006791.2 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 415 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 GCTGTGTTTGCTGGCTTTGAA 0.378000 19 55 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93252138 93252138 + Missense_Mutation SNP G G C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr10:93252138G>C ENST00000446394.1 + 14 1441 c.1341G>C c.(1339-1341)aaG>aaC p.K447N HECTD2_ENST00000536715.1_Missense_Mutation_p.K32N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K443N|HECTD2_ENST00000371667.1_Missense_Mutation_p.K93N NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 443 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 ATTTGAAAAAGAAGTTAAAAG 0.348000 17 78 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932942 32932942 + Missense_Mutation SNP C C A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr3:32932942C>A ENST00000383763.5 + 4 2309 c.2246C>A c.(2245-2247)tCc>tAc p.S749Y NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACTTTGACTCCCCACGGGGT 0.582000 28 23 6.32553e-13 6.75682e-13 1 1 0 ZYG11B 79699 broad.mit.edu 37 1 53237356 53237356 + Silent SNP T T C TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:53237356T>C ENST00000294353.6 + 3 1006 c.861T>C c.(859-861)ttT>ttC p.F287F ZYG11B_ENST00000443756.2_Silent_p.F287F|ZYG11B_ENST00000545132.1_Silent_p.F287F NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 287 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 TTGAAGCCTTTATACAACAAC 0.428000 54 50 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128277 152128280 + Frame_Shift_Del DEL TGTC TGTC - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:152128277_152128280delTGTC ENST00000316073.3 - 3 1359_1362 c.1295_1298delGACA c.(1294-1299)agacaafs p.RQ432fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 432 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.R432K(1) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.525 7 1121 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201982416 201982417 + Frame_Shift_Ins INS - - A TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr1:201982416_201982417insA ENST00000359651.3 + 6 3987_3988 c.795_796insA c.(796-798)agcfs p.S266fs ELF3_ENST00000367284.5_Frame_Shift_Ins_p.S266fs|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.S266fs|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 266 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AGGGCAAGAAGAGCAAGCACGG 0.639 36 60 --- --- --- --- NMI 9111 broad.mit.edu 37 2 152128201 152128201 + Frame_Shift_Del DEL T T - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr2:152128201delT ENST00000243346.5 - 7 1150 c.680delA c.(679-681)aatfs p.N227fs NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 227 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) GCAGGTTTGATTTATATAAAG 0.308 37 27 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101283718 101283722 + Frame_Shift_Del DEL TAACT TAACT - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr3:101283718_101283722delTAACT ENST00000309922.6 + 2 247_251 c.93_97delTAACT c.(91-99)aataacttafs p.NL32fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) GGAAGAGAAATAACTTAACAATTTT 0.380 51 123 --- --- --- --- BHLHE41 79365 broad.mit.edu 37 12 26276595 26276596 + Frame_Shift_Ins INS - - G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr12:26276595_26276596insG ENST00000242728.4 - 4 660_661 c.313_314insC c.(313-315)caafs p.Q105fs NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 105 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 CTGATGCTGTTGCTCGGTTAAG 0.475 OREG0021711 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 30 --- --- --- --- OAS2 4939 broad.mit.edu 37 12 113433126 113433130 + Frame_Shift_Del DEL GATCT GATCT - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr12:113433126_113433130delGATCT ENST00000392583.2 + 3 681_685 c.474_478delGATCT c.(472-480)tggatctatfs p.WIY158fs RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Frame_Shift_Del_p.WIY158fs NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 158 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCAGCCCCTGGATCTATCGAGAGCT 0.434 14 84 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577036 7577036 + Frame_Shift_Del DEL G G - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr17:7577036delG ENST00000420246.2 - 8 1034 c.902delC c.(901-903)ccafs p.P301fs TP53_ENST00000359597.4_Frame_Shift_Del_p.P301fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P301fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P301fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P301fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 301 Interaction with CARM1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.0?(8)|p.G302fs*4(5)|p.?(3)|p.P301fs*44(2)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.P301fs*5(1)|p.L265_K305del41(1)|p.P301Q(1)|p.G293fs*1(1)|p.P301L(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) AGTGCTCCCTGGGGGCAGCTC 0.557 111 """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) 23 24 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41556700 41556700 + Frame_Shift_Del DEL G G - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chr22:41556700delG ENST00000263253.7 + 20 4864 c.3645delG c.(3643-3645)ttgfs p.L1215fs NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1215 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GCGTTTCTTTGGGGGATGACC 0.428 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 31 38 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44820536 44820536 + Frame_Shift_Del DEL G G - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:44820536delG ENST00000377967.4 + 3 274 c.233delG c.(232-234)cgcfs p.R78fs KDM6A_ENST00000543216.1_Frame_Shift_Del_p.R78fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.R78fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.R78fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 78 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(14)|p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TAGGCTGTTCGCTGCTATGAA 0.333 """D, N, F, S""" """renal, oesophageal SCC, MM""" 18 49 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44918673 44918673 + Frame_Shift_Del DEL A A - TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd941f38-9b9c-471d-9cce-7081cc9cc9c1 0c28df77-b2bc-47ed-a7fd-6ea14b65823a g.chrX:44918673delA ENST00000377967.4 + 12 1197 c.1156delA c.(1156-1158)aatfs p.N386fs KDM6A_ENST00000543216.1_Frame_Shift_Del_p.N386fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.N386fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.N386fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 386 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AAGTTGTAGTAATACCTCTGC 0.408 """D, N, F, S""" """renal, oesophageal SCC, MM""" 22 37 --- --- --- ---