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 CYP4A11 1579 broad.mit.edu 37 1 47402416 47402416 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr1:47402416G>A uc001cqp.3 - 4 481 c.430C>T c.(430-432)CGG>TGG p.R144W CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 144 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GTCAGCATCCGTCGATGCTGG 0.443 DOCK7 85440 broad.mit.edu 37 1 63001286 63001286 + Silent SNP C A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr1:63001286C>A uc001daq.2 - 29 3523 c.3489G>T c.(3487-3489)ACG>ACT p.T1163T DOCK7_uc001dan.2_Silent_p.T1024T|DOCK7_uc001dao.2_Silent_p.T1024T|DOCK7_uc001dap.2_Silent_p.T1132T|DOCK7_uc001dam.2_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1163 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CTTGTACATTCGTAGAAAATC 0.398 VTCN1 79679 broad.mit.edu 37 1 117699373 117699373 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr1:117699373G>A uc001ehb.2 - 3 340 c.268C>T c.(268-270)CTG>TTG p.L90L VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation 90 Ig-like V-type 1.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGCTCCGACAGCTCATCTTTG 0.458 TXNIP 10628 broad.mit.edu 37 1 145440100 145440100 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr1:145440100G>A uc001enn.3 + 4 875 c.534G>A c.(532-534)GTG>GTA p.V178V NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V123V NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 178 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGGGCGGGTGTCTGTCTCTG 0.433 NR1I3 9970 broad.mit.edu 37 1 161203002 161203002 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr1:161203002G>A uc001fzx.2 - 4 568 c.365C>T c.(364-366)ACC>ATC p.T122I TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.T122I|NR1I3_uc001fzg.2_Missense_Mutation_p.T93I|NR1I3_uc001fzh.2_Missense_Mutation_p.T93I|NR1I3_uc001fzi.2_Missense_Mutation_p.T93I|NR1I3_uc001fzj.2_Missense_Mutation_p.T93I|NR1I3_uc001fzk.2_Missense_Mutation_p.T93I|NR1I3_uc001fzl.2_Missense_Mutation_p.T93I|NR1I3_uc001fzm.2_Missense_Mutation_p.T47I|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.T122I|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.T122I|NR1I3_uc001fzy.2_Missense_Mutation_p.T122I|NR1I3_uc001fzz.2_Missense_Mutation_p.T122I|NR1I3_uc001gaa.2_Missense_Mutation_p.T122I|NR1I3_uc001gab.2_Missense_Mutation_p.T122I|NR1I3_uc001gac.2_Missense_Mutation_p.T93I|NR1I3_uc010pkm.1_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 122 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CATGTGGCGGGTGTGGGCCCC 0.557 MYST4 23522 broad.mit.edu 37 10 76735758 76735758 + Missense_Mutation SNP G A A rs146395020 byFrequency TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr10:76735758G>A uc001jwn.1 + 8 2156 c.1663G>A c.(1663-1665)GGA>AGA p.G555R MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 555 Negatively regulates HAT activity. histone H3 acetylation|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 factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TACCACTCAGGGACAGTCTCG 0.493 T CREBBP AML CYP2C18 1562 broad.mit.edu 37 10 96443660 96443660 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr10:96443660G>A uc001kjv.3 + 1 410 c.84G>A c.(82-84)AGG>AGA p.R28R CYP2C18_uc001kjw.3_Silent_p.R28R NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 28 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GAAGAGGGAGGCTCCCGTCTG 0.483 CYP2C19 1557 broad.mit.edu 37 10 96612523 96612523 + Missense_Mutation SNP G A A rs138112316 TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr10:96612523G>A uc010qnz.1 + 9 1325 c.1325G>A c.(1324-1326)CGC>CAC p.R442H CYP2C19_uc010qny.1_Missense_Mutation_p.R420H NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 442 R -> C (in allele CYP2C19*16; lowered catalytic activity). exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GGCCTGGCCCGCATGGAGCTG 0.433 BTBD16 118663 broad.mit.edu 37 10 124066797 124066797 + Nonsense_Mutation SNP T A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr10:124066797T>A uc001lgc.1 + 10 1136 c.885T>A c.(883-885)TAT>TAA p.Y295* BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294* NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 295 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTCCGACTTATGAAACCGTGA 0.353 OR4C46 119749 broad.mit.edu 37 11 51515606 51515606 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr11:51515606G>A uc010ric.1 + 1 325 c.325G>A c.(325-327)GAG>AAG p.E109K NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CGGAGGTGCAGAGGGCATCCT 0.473 CPSF6 11052 broad.mit.edu 37 12 69652697 69652697 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr12:69652697C>T uc001sut.3 + 6 1132 c.1022C>T c.(1021-1023)CCG>CTG p.P341L CPSF6_uc001suu.3_Missense_Mutation_p.P378L|CPSF6_uc010stk.1_5'UTR NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 341 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) GCTCCTCCTCCGCATCTTCCT 0.617 SLC6A15 55117 broad.mit.edu 37 12 85255645 85255645 + Silent SNP T A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr12:85255645T>A uc001szv.2 - 12 2452 c.1959A>T c.(1957-1959)GCA>GCT p.A653A SLC6A15_uc010sul.1_Silent_p.A546A|SLC6A15_uc001szw.1_Missense_Mutation_p.H315L NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 653 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 AGGTCACAGATGCTAAATTAC 0.438 ARL1 400 broad.mit.edu 37 12 101794864 101794864 + Missense_Mutation SNP T A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr12:101794864T>A uc001tib.2 - 4 461 c.312A>T c.(310-312)AAA>AAT p.K104N ARL1_uc010svn.1_Missense_Mutation_p.K58N|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Missense_Mutation_p.K104N NM_001177 NP_001168 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 104 small GTPase mediated signal transduction Golgi membrane enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding central_nervous_system(1) 1 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) CTAACTCTGATTTGGAAATGC 0.348 CDX2 1045 broad.mit.edu 37 13 28537311 28537311 + Missense_Mutation SNP A G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr13:28537311A>G uc001urv.2 - 3 1057 c.883T>C c.(883-885)TCT>CCT p.S295P NM_001265 NP_001256 Q99626 CDX2_HUMAN caudal type homeobox 2 295 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) CCAGGGACAGAGCCAGGCACT 0.657 T ETV6 AML TEP1 7011 broad.mit.edu 37 14 20841727 20841727 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr14:20841727G>A uc001vxe.2 - 46 6660 c.6620C>T c.(6619-6621)TCA>TTA p.S2207L TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2207 WD 14. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGAAGCTCTGACCCAGGCTG 0.577 BCL11B 64919 broad.mit.edu 37 14 99642350 99642351 + Frame_Shift_Ins INS - CA CA TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr14:99642350_99642351insCA uc001yga.2 - 4 1089_1090 c.822_823insTG c.(820-825)GTGGCGfs p.V274fs BCL11B_uc001ygb.2_Frame_Shift_Ins_p.V203fs NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 274_275 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGGGACTGCGCCACGGCCTCCG 0.718 T TLX3 T-ALL CASC5 57082 broad.mit.edu 37 15 40911168 40911168 + Missense_Mutation SNP T G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr15:40911168T>G uc010bbs.1 + 10 573 c.412T>G c.(412-414)TTG>GTG p.L138V CASC5_uc010ucq.1_Intron|CASC5_uc001zme.2_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 138 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GATGAACACATTGCTTTCTGC 0.333 FES 2242 broad.mit.edu 37 15 91438682 91438682 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr15:91438682C>T uc002bpv.2 + 19 2459 c.2363C>T c.(2362-2364)GCC>GTC p.A788V FES_uc010uqj.1_Missense_Mutation_p.A660V|FES_uc010uqk.1_Missense_Mutation_p.A770V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.A647V|FES_uc002bpx.2_Missense_Mutation_p.A718V|FES_uc002bpy.2_Missense_Mutation_p.A730V NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 788 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGTCCTGATGCCGTGTTCAGG 0.632 ADAMTS17 170691 broad.mit.edu 37 15 100537641 100537641 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr15:100537641G>A uc002bvv.1 - 19 2824 c.2745C>T c.(2743-2745)AGC>AGT p.S915S NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 915 TSP type-1 3. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGCCTTCACAGCTCTGCACTg 0.567 ZKSCAN2 342357 broad.mit.edu 37 16 25251946 25251946 + Missense_Mutation SNP C T T rs148950715 byFrequency TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr16:25251946C>T uc002dod.3 - 7 2502 c.2095G>A c.(2095-2097)GAC>AAC p.D699N ZKSCAN2_uc010vcl.1_Missense_Mutation_p.D495N NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 699 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) TTGCTGGGGTCGGTACTCTGG 0.418 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C T T rs28934575 TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) PIRT 644139 broad.mit.edu 37 17 10728644 10728644 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr17:10728644C>T uc010col.2 - 2 614 c.319G>A c.(319-321)GGG>AGG p.G107R NM_001101387 NP_001094857 P0C851 PIRT_HUMAN phosphoinositide-interacting regulator of 107 Helical; (Potential). integral to membrane ovary(1) 1 CACACCAGCCCGCACACCAGC 0.527 CCL3 6348 broad.mit.edu 37 17 34416597 34416597 + Silent SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr17:34416597C>T uc002hkv.2 - 2 222 c.120G>A c.(118-120)CGG>CGA p.R40R NM_002983 NP_002974 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 40 Involved in GAG binding. R->A: Slightly reduces heparin binding. cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGGAATCTGCCGGGAGGTGT 0.542 KIF18B 146909 broad.mit.edu 37 17 43004364 43004364 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr17:43004364C>T uc010wji.1 - 14 2469 c.2368G>A c.(2368-2370)GTT>ATT p.V790I KIF18B_uc002iht.2_Missense_Mutation_p.V799I|KIF18B_uc010wjh.1_Missense_Mutation_p.V787I NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) CACCTCGCAACGCGCTTCTTC 0.637 MUC16 94025 broad.mit.edu 37 19 9077406 9077406 + Nonsense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr19:9077406C>T uc002mkp.2 - 3 10244 c.10040G>A c.(10039-10041)TGG>TAG p.W3347* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3348 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGAGCCATGCCACATAGAGAA 0.502 C19orf54 284325 broad.mit.edu 37 19 41250512 41250512 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr19:41250512G>A uc002oou.1 - 3 589 c.469C>T c.(469-471)CGG>TGG p.R157W C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_RNA NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 157 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GTGGCCACCCGTATGAGTCTC 0.627 CEACAM5 1048 broad.mit.edu 37 19 42213611 42213611 + Missense_Mutation SNP C A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr19:42213611C>A uc002ork.2 + 2 198 c.77C>A c.(76-78)ACC>AAC p.T26N CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N|CEACAM5_uc002orl.2_Missense_Mutation_p.T26N NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 26 anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCACTTCTAACCTTCTGGAAC 0.537 NLRP12 91662 broad.mit.edu 37 19 54312882 54312882 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr19:54312882G>A uc002qch.3 - 3 2251 c.2031C>T c.(2029-2031)CGC>CGT p.R677R NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.R677R|NLRP12_uc002qcj.3_Silent_p.R677R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.R677R NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 677 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGCACCTCGCGCGGTCTTCCC 0.587 SLC30A3 7781 broad.mit.edu 37 2 27481038 27481038 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr2:27481038G>A uc002rjk.2 - 3 601 c.415C>T c.(415-417)CAC>TAC p.H139Y SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Missense_Mutation_p.H134Y NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 139 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGAACGGTGCCAGCCAAAG 0.637 IL1A 3552 broad.mit.edu 37 2 113537182 113537182 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr2:113537182C>T uc002tig.2 - 5 1341 c.381G>A c.(379-381)ATG>ATA p.M127I NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 127 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 TGATGATCCTCATAAAGTTGT 0.393 ARMC9 80210 broad.mit.edu 37 2 232127073 232127073 + Missense_Mutation SNP A T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr2:232127073A>T uc002vrq.3 + 12 1193 c.1081A>T c.(1081-1083)ATC>TTC p.I361F ARMC9_uc002vrp.3_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 361 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GCAAGCCTACATCAGCAATGA 0.498 BCAS1 8537 broad.mit.edu 37 20 52570143 52570143 + Missense_Mutation SNP T C C TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr20:52570143T>C uc002xws.2 - 11 1846 c.1508A>G c.(1507-1509)AAG>AGG p.K503R BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 503 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGCTGACTTCTTGTCCTTCGA 0.537 RAD54L2 23132 broad.mit.edu 37 3 51690165 51690165 + Nonsense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr3:51690165C>T uc011bdt.1 + 19 3330 c.3205C>T c.(3205-3207)CAG>TAG p.Q1069* RAD54L2_uc003dbh.2_Nonsense_Mutation_p.Q658*|RAD54L2_uc011bdu.1_Nonsense_Mutation_p.Q763*|RAD54L2_uc003dbj.2_Nonsense_Mutation_p.Q395* NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1069 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) AGTCCTTGTGCAGAAGGTGGT 0.458 DPPA2 151871 broad.mit.edu 37 3 109028077 109028077 + Missense_Mutation SNP C G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr3:109028077C>G uc003dxo.2 - 4 529 c.282G>C c.(280-282)AAG>AAC p.K94N NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 94 SAP. nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CCCGACACACCTTATTAATGG 0.443 COL29A1 256076 broad.mit.edu 37 3 130095557 130095557 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr3:130095557C>T uc010htj.1 + 3 1039 c.545C>T c.(544-546)ACA>ATA p.T182I COL29A1_uc010hti.1_RNA NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 182 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen 0 GCCATGGCCACATCCCATTTC 0.473 PDGFRA 5156 broad.mit.edu 37 4 55133558 55133558 + Missense_Mutation SNP T C C TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr4:55133558T>C uc003han.3 + 6 1193 c.862T>C c.(862-864)TAC>CAC p.Y288H PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.Y182H|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 288 Ig-like C2-type 3.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CAGTGGAGATTACGAATGTGC 0.473 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) RBM46 166863 broad.mit.edu 37 4 155720138 155720138 + Missense_Mutation SNP T C C TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr4:155720138T>C uc003ioo.2 + 4 997 c.824T>C c.(823-825)TTT>TCT p.F275S RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 275 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) GATTATGCTTTTGTTCACTTT 0.363 LPCAT1 79888 broad.mit.edu 37 5 1494825 1494825 + Silent SNP C A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr5:1494825C>A uc003jcm.2 - 3 600 c.483G>T c.(481-483)CCG>CCT p.P161P NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 161 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TTCCCCAGATCGGGATGTCTC 0.597 HSPB3 8988 broad.mit.edu 37 5 53751847 53751847 + Silent SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr5:53751847C>T uc003jph.1 + 1 403 c.228C>T c.(226-228)GAC>GAT p.D76D NM_006308 NP_006299 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 76 cell death|response to heat|response to unfolded protein cytoplasm|nucleus 0 Lung NSC(810;0.00104) TCCTGCTGGACGTGGTCCAGT 0.547 CTNNA1 1495 broad.mit.edu 37 5 138221907 138221907 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr5:138221907C>T uc003ldh.2 + 8 1164 c.1069C>T c.(1069-1071)CGT>TGT p.R357C CTNNA1_uc011cyx.1_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.1_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.2_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.2_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.2_Translation_Start_Site NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 357 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCAGGCTGGACGTAAAGAAAG 0.378 PCDHGA9 56107 broad.mit.edu 37 5 140782734 140782734 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr5:140782734C>T uc003lkh.1 + 1 215 c.215C>T c.(214-216)ACG>ATG p.T72M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T72M NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 72 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGTAGGACGCAGCTTTTC 0.622 BTNL8 79908 broad.mit.edu 37 5 180377067 180377067 + Silent SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr5:180377067C>T uc003mmp.2 + 8 1260 c.1026C>T c.(1024-1026)TAC>TAT p.Y342Y BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Silent_p.Y217Y|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Silent_p.Y226Y|BTNL8_uc011dhh.1_Silent_p.Y158Y NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 342 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAAACATTACTGGGAGGTGG 0.522 KIF13A 63971 broad.mit.edu 37 6 17772259 17772259 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr6:17772259G>A uc003ncg.3 - 37 4461 c.4356C>T c.(4354-4356)ACC>ACT p.T1452T KIF13A_uc003ncf.2_Silent_p.T1439T|KIF13A_uc003nch.3_Silent_p.T1452T|KIF13A_uc003nci.3_Silent_p.T1439T|KIF13A_uc003nce.1_Silent_p.T38T NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1452 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AAGGGCTGACGGTTAAGGCAT 0.433 DAXX 1616 broad.mit.edu 37 6 33289539 33289539 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr6:33289539C>T uc003oec.2 - 2 368 c.164G>A c.(163-165)GGC>GAC p.G55D DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Missense_Mutation_p.G67D|DAXX_uc003oed.2_Missense_Mutation_p.G55D|DAXX_uc010juw.2_5'UTR NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 55 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 GCATTTCTTGCCGCCCGAACT 0.597 Mis|F|N Pancreatic neuroendocrine tumors KPNA5 3841 broad.mit.edu 37 6 117023258 117023258 + Missense_Mutation SNP C G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr6:117023258C>G uc003pxh.2 + 6 643 c.512C>G c.(511-513)GCT>GGT p.A171G NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 168 ARM 3.|NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(3)|skin(1) 4 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) GAAACTGGGGCTGTTCCGATT 0.318 UTRN 7402 broad.mit.edu 37 6 144757266 144757266 + Missense_Mutation SNP A T T rs150684617 TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr6:144757266A>T uc003qkt.2 + 9 1143 c.1051A>T c.(1051-1053)ACC>TCC p.T351S UTRN_uc010khq.1_Missense_Mutation_p.T351S NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 351 Interaction with SYNM.|Spectrin 2. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCAGTTTGCAACCCATGAAGT 0.453 DMTF1 9988 broad.mit.edu 37 7 86811558 86811558 + Missense_Mutation SNP A G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr7:86811558A>G uc003uih.2 + 10 1051 c.725A>G c.(724-726)CAT>CGT p.H242R DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Missense_Mutation_p.H154R|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.H242R|DMTF1_uc003uin.2_5'UTR NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 242 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) CGGATAAAGCATGGCAATGAC 0.433 TRPV5 56302 broad.mit.edu 37 7 142605705 142605705 + Missense_Mutation SNP T C C TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr7:142605705T>C uc003wby.1 - 15 2429 c.2165A>G c.(2164-2166)GAT>GGT p.D722G NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 722 Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CTCCTCTCCATCCCCCTCACT 0.567 PTK2B 2185 broad.mit.edu 37 8 27296903 27296903 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr8:27296903G>A uc003xfn.1 + 25 2630 c.1822G>A c.(1822-1824)GTC>ATC p.V608I PTK2B_uc003xfo.1_Missense_Mutation_p.V608I|PTK2B_uc003xfp.1_Missense_Mutation_p.V608I|PTK2B_uc003xfq.1_Missense_Mutation_p.V608I|PTK2B_uc003xfr.1_Missense_Mutation_p.V354I NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 608 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGCCAGTGACGTCTGGATGTT 0.547 GEM 2669 broad.mit.edu 37 8 95264452 95264452 + Splice_Site SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr8:95264452C>T uc003ygj.2 - 4 658 c.409_splice c.e4-1 p.G137_splice GEM_uc003ygi.2_Splice_Site_p.G137_splice NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) CATTTTCCCCCTAATGAAACA 0.453 ZFAT 57623 broad.mit.edu 37 8 135613849 135613849 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr8:135613849C>T uc003yup.2 - 6 2288 c.2113G>A c.(2113-2115)GCC>ACC p.A705T ZFAT_uc003yun.2_Missense_Mutation_p.A693T|ZFAT_uc003yuo.2_Missense_Mutation_p.A693T|ZFAT_uc010meh.2_Missense_Mutation_p.A693T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A693T|ZFAT_uc010mej.2_Missense_Mutation_p.A643T|ZFAT_uc003yur.2_Missense_Mutation_p.A693T NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 705 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGCTCAGGGGCAGCTTTGCAA 0.557 DOCK8 81704 broad.mit.edu 37 9 439344 439344 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:439344G>A uc003zgf.2 + 40 5291 c.5179G>A c.(5179-5181)GGC>AGC p.G1727S DOCK8_uc010mgu.2_Missense_Mutation_p.G1029S|DOCK8_uc010mgv.2_Missense_Mutation_p.G1627S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1727 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CACCGAGAGTGGCCTGGTAGG 0.622 COL15A1 1306 broad.mit.edu 37 9 101788194 101788194 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:101788194G>A uc004azb.1 + 16 2195 c.1989G>A c.(1987-1989)GAG>GAA p.E663E NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 663 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AGGGCCCTGAGGGACAGCCTG 0.582 ABCA1 19 broad.mit.edu 37 9 107555100 107555100 + Missense_Mutation SNP C G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:107555100C>G uc004bcl.2 - 42 6037 c.5724G>C c.(5722-5724)CAG>CAC p.Q1908H NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1908 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGATGTCATTCTGGCCTCCAC 0.423 GBGT1 26301 broad.mit.edu 37 9 136031442 136031442 + Missense_Mutation SNP G T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:136031442G>T uc004ccw.2 - 4 429 c.148C>A c.(148-150)CTG>ATG p.L50M RALGDS_uc011mcw.1_Missense_Mutation_p.A62D|GBGT1_uc004ccx.2_Missense_Mutation_p.L3M|GBGT1_uc010nab.2_Missense_Mutation_p.L50M|GBGT1_uc011mcx.1_Intron|GBGT1_uc010nac.1_Translation_Start_Site|GBGT1_uc004ccy.1_Missense_Mutation_p.L50M NM_021996 NP_068836 Q8N5D6 GBGT1_HUMAN globoside 50 Lumenal (Potential). carbohydrate metabolic process|glycolipid biosynthetic process Golgi membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) TTGTAGTGCAGCTTCATGTTG 0.567 TUBBP5 643224 broad.mit.edu 37 9 141071076 141071076 + Missense_Mutation SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:141071076C>T uc004com.2 + 4 740 c.479C>T c.(478-480)ACC>ATC p.T160I TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 GTGTCTGCTACCATGAGTGGG 0.557 TUBBP5 643224 broad.mit.edu 37 9 141071097 141071097 + Missense_Mutation SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:141071097G>A uc004com.2 + 4 761 c.500G>A c.(499-501)TGC>TAC p.C167Y TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 GTCACCACGTGCCTGCGCTTC 0.577 TUBBP5 643224 broad.mit.edu 37 9 141071110 141071110 + Silent SNP A G G TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chr9:141071110A>G uc004com.2 + 4 774 c.513A>G c.(511-513)CCA>CCG p.P171P TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGCGCTTCCCAGGCCAGCTGA 0.597 GRPR 2925 broad.mit.edu 37 X 16142166 16142166 + Silent SNP G A A TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chrX:16142166G>A uc004cxj.2 + 1 743 c.90G>A c.(88-90)GTG>GTA p.V30V NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 30 Extracellular (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) ATCTCCCCGTGAACGATGACT 0.478 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FOXR2 139628 broad.mit.edu 37 X 55650332 55650332 + Missense_Mutation SNP G C C TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chrX:55650332G>C uc004duo.2 + 1 500 c.188G>C c.(187-189)AGG>ACG p.R63T NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 63 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA 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 lung(2)|central_nervous_system(1) 3 CCTCAGAAGAGGAGACCCAGT 0.537 MAGEA5 4104 broad.mit.edu 37 X 151283896 151283896 + Silent SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chrX:151283896C>T uc004ffj.2 - 3 322 c.117G>A c.(115-117)GTG>GTA p.V39V NM_021049 NP_066387 P43359 MAGA5_HUMAN melanoma antigen family A, 5 39 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGGAGGACACAGCCTCCT 0.647 OPN1MW 2652 broad.mit.edu 37 X 153490645 153490645 + Silent SNP C T T TCGA-14-0740-01B-01D-1845-08 TCGA-14-0740-10B-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f49859c4-adf9-4c53-8288-8a7ad65a940d 36ba7e2f-dcc9-4046-b7e7-a9e4c732841d g.chrX:153490645C>T uc004fkd.2 + 2 463 c.381C>T c.(379-381)GTC>GTT p.V127V NM_000513 NP_000504 P04001 OPSG_HUMAN opsin 1 (cone pigments), medium-wave-sensitive 127 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTATGTGTGTCCTGGAGGGCT 0.617