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_status validation_method validation_tumor_sample validation_alt_allele filter PRDM2 7799 broad.mit.edu 37 1 14109273 14109273 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:14109273G>C uc001avi.2 + 8 5839 c.4983G>C c.(4981-4983)TTG>TTC p.L1661F PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.L1661F|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.L1460F|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1661 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CTGCTGACTTGAGTGAGAACA 0.562 4 24 --- --- --- --- PASS DDI2 84301 broad.mit.edu 37 1 15956921 15956921 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:15956921G>C uc001awx.1 + 3 466 c.370G>C c.(370-372)GAA>CAA p.E124Q DDI2_uc001aww.2_Missense_Mutation_p.E124Q|DDI2_uc009voj.1_5'UTR NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 124 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) ATCTCCTGGAGAAATAACTTC 0.542 10 55 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34190220 34190220 + Silent SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:34190220C>T uc001bxn.1 - 18 2690 c.2661G>A c.(2659-2661)GCG>GCA p.A887A CSMD2_uc001bxm.1_Silent_p.A927A NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 887 Sushi 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGTCACCAGCGCGCCCACGT 0.567 6 40 --- --- --- --- PASS SYT6 148281 broad.mit.edu 37 1 114680442 114680442 + Missense_Mutation SNP C T T rs139165674 byFrequency TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:114680442C>T uc001eev.2 - 3 741 c.491G>A c.(490-492)CGT>CAT p.R164H NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 249 Cytoplasmic (Potential).|C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCAGGATACGCACAATCAG 0.542 5 53 --- --- --- --- PASS OR10X1 128367 broad.mit.edu 37 1 158549354 158549354 + Silent SNP A T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:158549354A>T uc010pin.1 - 1 336 c.336T>A c.(334-336)GGT>GGA p.G112G NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 112 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GTAAGCTACAACCTGTGACTG 0.488 9 36 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169511232 169511232 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:169511232C>G uc001ggg.1 - 13 3241 c.3096G>C c.(3094-3096)AAG>AAC p.K1032N NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1032 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTCTTTTTTCTTTTTTCGTG 0.393 8 217 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178426894 178426894 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:178426894C>G uc001glr.2 + 12 2169 c.2044C>G c.(2044-2046)CAG>GAG p.Q682E RASAL2_uc001glq.2_Missense_Mutation_p.Q823E|RASAL2_uc009wxc.2_Missense_Mutation_p.Q196E NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 682 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 ATTGCTGGTTCAGCAAGCCTC 0.458 8 64 --- --- --- --- PASS FCAMR 83953 broad.mit.edu 37 1 207139122 207139122 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:207139122C>A uc001hfa.3 - 4 751 c.251G>T c.(250-252)CGG>CTG p.R84L FCAMR_uc001hfb.2_Missense_Mutation_p.R84L|FCAMR_uc009xca.1_Missense_Mutation_p.R84L|FCAMR_uc001hfc.2_Missense_Mutation_p.R59L NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 39 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 TCCCATGGCCCGGAGATGGGT 0.592 6 19 --- --- --- --- PASS CABC1 56997 broad.mit.edu 37 1 227152766 227152766 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:227152766C>G uc001hqm.1 + 8 3662 c.243C>G c.(241-243)TTC>TTG p.F81L CABC1_uc010pvp.1_Missense_Mutation_p.F44L|CABC1_uc001hqn.1_Missense_Mutation_p.F81L|CABC1_uc009xeq.1_Missense_Mutation_p.F29L|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 81 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) AGTTCCACTTCTCAGTCCCGC 0.597 8 38 --- --- --- --- PASS AGBL5 60509 broad.mit.edu 37 2 27276797 27276797 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:27276797C>T uc002rie.2 + 4 638 c.421C>T c.(421-423)CAT>TAT p.H141Y AGBL5_uc002ric.2_Missense_Mutation_p.H141Y|AGBL5_uc002rid.2_Missense_Mutation_p.H141Y|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 141 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCTTTGTTCATCGTTTCGT 0.552 4 95 --- --- --- --- PASS MTA3 57504 broad.mit.edu 37 2 42935192 42935192 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:42935192G>C uc002rso.1 + 14 1799 c.1129G>C c.(1129-1131)GAG>CAG p.E377Q MTA3_uc002rsp.1_Missense_Mutation_p.E377Q|MTA3_uc002rsq.2_Missense_Mutation_p.E434Q|MTA3_uc002rsr.2_Missense_Mutation_p.E433Q NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 434 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 CCCAACTACAGAGGTACAGTA 0.343 4 39 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152529046 152529046 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:152529046G>T uc010fnx.2 - 37 4327 c.4136C>A c.(4135-4137)ACC>AAC p.T1379N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1379 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 ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGGTAGCTGGTTTTGGTGTT 0.473 4 77 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159477760 159477760 + Missense_Mutation SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:159477760A>G uc002tzv.2 + 6 690 c.430A>G c.(430-432)AGA>GGA p.R144G PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.2_Missense_Mutation_p.R144G|PKP4_uc002tzw.2_Missense_Mutation_p.R144G|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R142G|PKP4_uc002uaa.2_5'UTR NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 144 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 GGGTAACTCAAGAAGTTCAAC 0.393 HNSCC(62;0.18) 6 62 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173883491 173883491 + Missense_Mutation SNP G A A rs61741755 TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:173883491G>A uc002uhv.3 + 22 2303 c.2116G>A c.(2116-2118)GGG>AGG p.G706R RAPGEF4_uc002uhw.3_Missense_Mutation_p.G562R NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 706 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) GCTGGGCTCCGGGGAGGGCCT 0.502 8 56 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 Mis NSCLC|HNSCC HNSCC(56;0.16) 11 52 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179515558 179515558 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:179515558G>T uc010zfg.1 - 163 32551 c.32327C>A c.(32326-32328)CCA>CAA p.P10776Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11703 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCACTTCTGGCACTTTAAA 0.413 3 6 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190728905 190728905 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:190728905C>T uc002urh.3 + 10 2822 c.2293C>T c.(2293-2295)CAT>TAT p.H765Y PMS1_uc010zgb.1_Missense_Mutation_p.H704Y|PMS1_uc002urk.3_Missense_Mutation_p.H726Y|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.H589Y|PMS1_uc010zgd.1_Missense_Mutation_p.H589Y|PMS1_uc002urj.2_Intron|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_Intron NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 765 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TCTTGAGAATCATAAACTTCC 0.323 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 9 165 --- --- --- --- PASS OBFC2A 64859 broad.mit.edu 37 2 192550416 192550416 + Silent SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr2:192550416A>G uc002usx.2 + 6 1017 c.537A>G c.(535-537)CTA>CTG p.L179L OBFC2A_uc002usw.2_Silent_p.L99L|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Silent_p.L93L NM_001031716 NP_001026886 Q96AH0 SOSB2_HUMAN oligonucleotide/oligosaccharide-binding fold 179 double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex single-stranded DNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244) ATCCACAACTACAAGGAACAG 0.438 4 28 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38739099 38739099 + Missense_Mutation SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:38739099A>G uc003ciq.2 - 27 5612 c.5612T>C c.(5611-5613)ATG>ACG p.M1871T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1871 IQ. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGAGAGTGCCATGGAGCGGTG 0.488 15 56 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49688345 49688345 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:49688345G>A uc003cxe.3 + 4 1933 c.1819G>A c.(1819-1821)GAA>AAA p.E607K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 607 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGTGTCCAGGAAAAGAAGAC 0.612 10 89 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49689252 49689252 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:49689252G>A uc003cxe.3 + 5 2377 c.2263G>A c.(2263-2265)GAG>AAG p.E755K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 755 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CGGTACTGGCGAGGAGCAGAA 0.627 3 13 --- --- --- --- PASS FILIP1L 11259 broad.mit.edu 37 3 99569313 99569313 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:99569313G>T uc003dtm.2 - 5 1670 c.1207C>A c.(1207-1209)CTT>ATT p.L403I C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L403I|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Missense_Mutation_p.L163I|FILIP1L_uc003dtn.2_Missense_Mutation_p.L163I|FILIP1L_uc003dtp.1_Missense_Mutation_p.L163I NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 403 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TCCCTTTCAAGCCTCTTATTG 0.408 5 224 --- --- --- --- PASS MBD4 8930 broad.mit.edu 37 3 129152022 129152022 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:129152022C>T uc003emh.1 - 6 1656 c.1480G>A c.(1480-1482)GCA>ACA p.A494T MBD4_uc003emi.1_Missense_Mutation_p.A494T|MBD4_uc003emj.1_Missense_Mutation_p.A488T|MBD4_uc003emk.1_Missense_Mutation_p.A176T|MBD4_uc011bkw.1_Missense_Mutation_p.A494T NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 494 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 CTCCAGTCTGCGGTTCTTGCT 0.428 BER_DNA_glycosylases 5 110 --- --- --- --- PASS ACPP 55 broad.mit.edu 37 3 132056300 132056300 + Silent SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:132056300T>C uc010htp.2 + 5 547 c.457T>C c.(457-459)TTG>CTG p.L153L ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Silent_p.L153L NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 153 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 TTATCCTCAGTTGCTATACCT 0.388 29 66 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157099020 157099020 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:157099020C>T uc003fbj.1 - 7 1369 c.1052G>A c.(1051-1053)CGC>CAC p.R351H VEPH1_uc003fbk.1_Missense_Mutation_p.R351H|VEPH1_uc010hvu.1_Missense_Mutation_p.R351H NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 351 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GTTGCTCATGCGGAAGATGTC 0.498 12 132 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179593213 179593213 + Silent SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr3:179593213T>C uc003fki.1 - 6 688 c.558A>G c.(556-558)CGA>CGG p.R186R PEX5L_uc011bqd.1_Silent_p.R143R|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Silent_p.R78R|PEX5L_uc003fkj.1_Silent_p.R151R|PEX5L_uc010hxd.1_Silent_p.R184R|PEX5L_uc011bqg.1_Silent_p.R162R|PEX5L_uc011bqh.1_Silent_p.R127R NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 186 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CCTTGGTATTTCGATCTCCAT 0.453 31 72 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13605554 13605554 + Silent SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr4:13605554A>G uc003gmz.1 - 10 3087 c.2970T>C c.(2968-2970)CAT>CAC p.H990H BOD1L_uc010idr.1_Silent_p.H327H NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 990 Lys-rich. DNA binding ovary(5)|breast(1) 6 ACTTGGCTCTATGACTAGAAT 0.398 4 230 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46067426 46067426 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr4:46067426C>T uc003gxb.2 - 4 649 c.497G>A c.(496-498)CGT>CAT p.R166H NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 166 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCGAAGCAGACGATTAGGAGT 0.333 8 58 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111397798 111397798 + Silent SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr4:111397798C>T uc003iab.3 + 1 570 c.228C>T c.(226-228)GAC>GAT p.D76D NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 76 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGGACCAGGACATCTGCCCGG 0.652 8 55 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114209638 114209638 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr4:114209638C>A uc003ibe.3 + 20 2373 c.2273C>A c.(2272-2274)ACC>AAC p.T758N ANK2_uc003ibd.3_Missense_Mutation_p.T737N|ANK2_uc003ibf.3_Missense_Mutation_p.T758N|ANK2_uc003ibc.2_Missense_Mutation_p.T734N|ANK2_uc011cgb.1_Missense_Mutation_p.T773N NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 758 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AACGCAAAAACCAAGGTAAAG 0.373 6 29 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126329937 126329937 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr4:126329937G>A uc003ifj.3 + 4 5908 c.5908G>A c.(5908-5910)GAT>AAT p.D1970N FAT4_uc011cgp.1_Missense_Mutation_p.D268N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1970 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TAATGTTACTGATGCAGATGA 0.289 4 111 --- --- --- --- PASS TRIML1 339976 broad.mit.edu 37 4 189067976 189067976 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr4:189067976C>A uc003izm.1 + 6 972 c.857C>A c.(856-858)ACG>AAG p.T286K TRIML1_uc003izn.1_Missense_Mutation_p.T10K NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 286 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCTCTTGCAGCGGAGATAACG 0.468 23 144 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35988612 35988612 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:35988612G>C uc003jjv.1 - 2 293 c.136C>G c.(136-138)CTT>GTT p.L46V UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L46V|UGT3A1_uc011cor.1_Intron|UGT3A1_uc003jjy.1_5'UTR NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 46 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCTCTTGAAGAATCTGAGAC 0.343 3 39 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36049476 36049476 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:36049476G>C uc003jjz.1 - 4 451 c.358C>G c.(358-360)CAG>GAG p.Q120E UGT3A2_uc011cos.1_Missense_Mutation_p.Q86E|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 120 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGACTGCACTGCAACGCCAAG 0.303 6 51 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66391439 66391439 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:66391439G>A uc003jut.1 + 6 349 c.281G>A c.(280-282)CGC>CAC p.R94H MAST4_uc003jus.2_Missense_Mutation_p.R94H|MAST4_uc003juu.1_Missense_Mutation_p.R104H|MAST4_uc011cra.1_Missense_Mutation_p.R77H|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Missense_Mutation_p.R89H|MAST4_uc003juw.2_Missense_Mutation_p.R89H NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 286 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GATGGACGCCGCTGGTCGTTG 0.468 4 10 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80369249 80369249 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:80369249G>T uc003kha.1 + 5 865 c.865G>T c.(865-867)GTC>TTC p.V289F RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.V117F NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 289 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCACGACGACGTCAGCAGTAT 0.448 6 31 --- --- --- --- PASS ATG12 9140 broad.mit.edu 37 5 115177356 115177356 + Missense_Mutation SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:115177356T>C uc003krh.2 - 1 144 c.35A>G c.(34-36)AAT>AGT p.N12S AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Missense_Mutation_p.N12S|ATG12_uc003krj.2_RNA NM_004707 NP_004698 O94817 ATG12_HUMAN APG12 autophagy 12-like Error:Variant_position_missing_in_O94817_after_alignment autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) GGGGACGCAATTACACAGTGA 0.557 7 86 --- --- --- --- PASS HSPA4 3308 broad.mit.edu 37 5 132426993 132426993 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:132426993C>G uc003kyj.2 + 12 1768 c.1487C>G c.(1486-1488)TCT>TGT p.S496C NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 496 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCAGTGCATCTTTAGTGGAG 0.423 5 72 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140710510 140710510 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr5:140710510G>T uc003lji.1 + 1 259 c.259G>T c.(259-261)GCG>TCG p.A87S PCDHGA1_uc011dan.1_Missense_Mutation_p.A87S NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 87 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGATCACCGCGCGCAGGAT 0.542 4 108 --- --- --- --- PASS CYP21A2 1589 broad.mit.edu 37 6 32007980 32007980 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:32007980G>C uc003nze.1 + 7 1055 c.937G>C c.(937-939)GAG>CAG p.E313Q CYP21A2_uc003nzf.1_Missense_Mutation_p.E283Q NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 312 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 TCACCACCCTGAGGTGCGTCC 0.627 3 115 --- --- --- --- PASS AGPAT1 10554 broad.mit.edu 37 6 32137188 32137188 + Silent SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:32137188C>A uc003oae.2 - 7 1035 c.717G>T c.(715-717)ACG>ACT p.T239T PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.T203T|AGPAT1_uc003oaf.2_Silent_p.T239T|AGPAT1_uc003oag.2_Silent_p.T129T|AGPAT1_uc003oah.2_Silent_p.T239T|AGPAT1_uc003oai.1_Silent_p.T239T|AGPAT1_uc011dpl.1_Silent_p.T127T NM_006411 NP_006402 Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 239 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1) 1 TCAGCCCTTCCGTGGGCACTG 0.637 14 75 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56494056 56494056 + Silent SNP A T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:56494056A>T uc003pdf.2 - 31 4396 c.4368T>A c.(4366-4368)ATT>ATA p.I1456I DST_uc003pcz.3_Silent_p.I1278I|DST_uc011dxj.1_Silent_p.I1307I|DST_uc011dxk.1_Silent_p.I1318I|DST_uc003pcy.3_Silent_p.I952I|DST_uc003pdb.2_Silent_p.I952I|DST_uc003pdc.3_Silent_p.I952I|DST_uc003pdd.3_Silent_p.I952I NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1278 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACCTGTTGTCAATCTGCACAT 0.323 8 98 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72806810 72806810 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:72806810G>T uc003pga.2 + 3 481 c.404G>T c.(403-405)TGT>TTT p.C135F NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 135 RabBD.|FYVE-type. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGCTCCTATTGTCGCACTAAG 0.517 9 42 --- --- --- --- PASS SLC17A5 26503 broad.mit.edu 37 6 74304842 74304842 + Silent SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:74304842T>C uc003phn.3 - 11 1574 c.1446A>G c.(1444-1446)GTA>GTG p.V482V SLC17A5_uc010kax.2_Silent_p.V141V|SLC17A5_uc010kay.2_RNA NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 482 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 CCCAGTTTTGTACTTCACCTT 0.368 19 97 --- --- --- --- PASS FIG4 9896 broad.mit.edu 37 6 110107533 110107533 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:110107533G>C uc003ptt.2 + 18 2192 c.1977G>C c.(1975-1977)TTG>TTC p.L659F FIG4_uc011eau.1_Missense_Mutation_p.L382F NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 659 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TAAAGAAGTTGATAGTGAAGA 0.313 4 72 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117715339 117715339 + Missense_Mutation SNP T A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:117715339T>A uc003pxp.1 - 10 1349 c.1150A>T c.(1150-1152)ATC>TTC p.I384F ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 384 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCATCCATGATGAAATACATT 0.338 T GOPC|ROS1 glioblastoma|NSCLC 4 44 --- --- --- --- PASS NKAIN2 154215 broad.mit.edu 37 6 124604183 124604183 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:124604183C>A uc003pzo.2 + 2 364 c.87C>A c.(85-87)TTC>TTA p.F29L NKAIN2_uc003pzn.1_Missense_Mutation_p.F29L|NKAIN2_uc003pzp.2_Missense_Mutation_p.F28L|NKAIN2_uc010keq.2_Missense_Mutation_p.F29L|NKAIN2_uc010ker.2_5'UTR|NKAIN2_uc010kep.1_RNA NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 29 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) TATTTGACTTCCTTGGATATC 0.393 19 108 --- --- --- --- PASS TAAR8 83551 broad.mit.edu 37 6 132874559 132874559 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:132874559G>T uc011ecj.1 + 1 728 c.728G>T c.(727-729)AGT>ATT p.S243I NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 243 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TCCTCAGAGAGTTATAAAATC 0.353 9 48 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132892023 132892023 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:132892023G>C uc011eck.1 + 1 563 c.563G>C c.(562-564)GGA>GCA p.G188A NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 188 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) AACTGTATAGGAGGTTGTCAG 0.418 20 96 --- --- --- --- PASS SLC22A1 6580 broad.mit.edu 37 6 160560878 160560878 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr6:160560878G>T uc003qtc.2 + 7 1360 c.1255G>T c.(1255-1257)GTC>TTC p.V419F SLC22A1_uc003qtd.2_Missense_Mutation_p.V419F NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 419 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AGCCTGCCTCGTCATGATTTT 0.517 3 23 --- --- --- --- PASS RSPH10B2 728194 broad.mit.edu 37 7 5967999 5967999 + Silent SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:5967999G>T uc003sph.1 - 20 2531 c.2260C>A c.(2260-2262)CGA>AGA p.R754R RSPH10B2_uc003spg.1_Silent_p.R601R|RSPH10B2_uc010ktd.1_Silent_p.R754R|RSPH10B2_uc011jwk.1_Silent_p.I375I NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 754 ovary(1)|pancreas(1)|skin(1) 3 TCTTCCTCTCGATCATCCTTG 0.418 23 104 --- --- --- --- PASS HOXA4 3201 broad.mit.edu 37 7 27169030 27169030 + Silent SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:27169030G>C uc003sym.3 - 2 824 c.777C>G c.(775-777)GTC>GTG p.V259V HOXA3_uc003syk.2_5'Flank NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 259 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ACCAGATCTTGACCTGGCGCT 0.577 4 81 --- --- --- --- PASS HOXA4 3201 broad.mit.edu 37 7 27169744 27169744 + Silent SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:27169744G>A uc003sym.3 - 1 656 c.609C>T c.(607-609)GTC>GTT p.V203V NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 203 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TACCGGCGCTGACATGGATCT 0.652 3 15 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81386571 81386571 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:81386571G>T uc003uhl.2 - 4 581 c.416C>A c.(415-417)ACA>AAA p.T139K HGF_uc003uhm.2_Missense_Mutation_p.T139K|HGF_uc003uhn.1_Missense_Mutation_p.T139K|HGF_uc003uho.1_Missense_Mutation_p.T139K|HGF_uc003uhp.2_Missense_Mutation_p.T139K NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 139 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 GATAGATACTGTTCCCTTGTA 0.388 4 56 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82474630 82474630 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:82474630G>A uc003uhx.2 - 13 14292 c.14003C>T c.(14002-14004)CCA>CTA p.P4668L PCLO_uc003uhv.2_Missense_Mutation_p.P4668L|PCLO_uc003uht.1_Missense_Mutation_p.P119L|PCLO_uc003uhu.1_Missense_Mutation_p.P98L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4556 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGGGGACCCTGGTTGCCCAGG 0.502 3 30 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963284 88963284 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:88963284C>T uc011khi.1 + 4 1526 c.988C>T c.(988-990)CAT>TAT p.H330Y NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 330 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATCTAACATTCATCTTTCAGA 0.338 HNSCC(36;0.09) 5 28 --- --- --- --- PASS ZNF3 7551 broad.mit.edu 37 7 99669079 99669079 + Missense_Mutation SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:99669079T>C uc003usq.2 - 6 1335 c.1028A>G c.(1027-1029)AAT>AGT p.N343S ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.N343S|ZNF3_uc010lgj.2_Missense_Mutation_p.N307S|ZNF3_uc003uss.2_Missense_Mutation_p.N350S|ZNF3_uc003ust.3_Missense_Mutation_p.N343S NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 343 C2H2-type 6. GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) CCCACATTCATTACATTCATA 0.483 8 44 --- --- --- --- PASS TRIP6 7205 broad.mit.edu 37 7 100469219 100469219 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:100469219C>T uc003uww.2 + 7 1224 c.1054C>T c.(1054-1056)CGG>TGG p.R352W NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 352 LIM zinc-binding 2. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGGATCCTGCGGGCTATGGG 0.642 3 58 --- --- --- --- PASS COG5 10466 broad.mit.edu 37 7 107198509 107198509 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:107198509G>C uc003ved.2 - 2 764 c.239C>G c.(238-240)TCT>TGT p.S80C COG5_uc003vec.2_Missense_Mutation_p.S80C|COG5_uc003vee.2_Missense_Mutation_p.S80C NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 80 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 AATAGATTGAGAAGTATAAGT 0.358 7 32 --- --- --- --- PASS ZNF398 57541 broad.mit.edu 37 7 148863259 148863259 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:148863259G>T uc003wfl.2 + 3 705 c.430G>T c.(430-432)GCA>TCA p.A144S ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A149S NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 144 KRAB. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GGTGCCTGTGGCATTTGATGA 0.348 16 63 --- --- --- --- PASS NOM1 64434 broad.mit.edu 37 7 156743221 156743221 + Nonsense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr7:156743221G>T uc003wmy.2 + 1 805 c.790G>T c.(790-792)GAG>TAG p.E264* NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggaggaggaggagggagacgt 0.214 4 20 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35544208 35544208 + Silent SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr8:35544208A>G uc003xjr.1 + 7 1393 c.1065A>G c.(1063-1065)ACA>ACG p.T355T UNC5D_uc003xjs.1_Silent_p.T350T|UNC5D_uc003xjt.1_Silent_p.T124T NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 355 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) aaaactgcacagatggtcttt 0.323 4 20 --- --- --- --- PASS OPRK1 4986 broad.mit.edu 37 8 54147415 54147415 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr8:54147415G>T uc003xrh.1 - 2 889 c.514C>A c.(514-516)CCC>ACC p.P172T OPRK1_uc003xri.1_Missense_Mutation_p.P172T|OPRK1_uc010lyc.1_Missense_Mutation_p.P83T NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 172 Cytoplasmic (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GCCTTCAAGGGTGTGCGGAAG 0.507 18 61 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767225 77767225 + Silent SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr8:77767225T>C uc003yav.2 + 10 8320 c.7933T>C c.(7933-7935)TTA>CTA p.L2645L ZFHX4_uc003yau.1_Silent_p.L2690L|ZFHX4_uc003yaw.1_Silent_p.L2645L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2645 C2H2-type 17. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGTCGGCCTTAGAAAGCCA 0.552 HNSCC(33;0.089) 14 49 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8504320 8504320 + Missense_Mutation SNP C A A rs150553394 TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr9:8504320C>A uc003zkk.2 - 22 2474 c.1763G>T c.(1762-1764)CGC>CTC p.R588L PTPRD_uc003zkp.2_Missense_Mutation_p.R588L|PTPRD_uc003zkq.2_Missense_Mutation_p.R588L|PTPRD_uc003zkr.2_Missense_Mutation_p.R582L|PTPRD_uc003zks.2_Missense_Mutation_p.R578L|PTPRD_uc003zkl.2_Missense_Mutation_p.R588L|PTPRD_uc003zkm.2_Missense_Mutation_p.R575L|PTPRD_uc003zkn.2_Missense_Mutation_p.R588L|PTPRD_uc003zko.2_Missense_Mutation_p.R585L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 588 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTGAGGGGAGCGTGCAGCCAG 0.458 TSP Lung(15;0.13) 9 72 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32635551 32635551 + Silent SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr9:32635551C>T uc003zrg.1 - 1 117 c.27G>A c.(25-27)CTG>CTA p.L9L uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 9 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGCTGCCCTCAGCAGCAAAT 0.542 5 41 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 9 84676531 84676531 + Missense_Mutation SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr9:84676531A>G uc010mpu.1 - 2 152 c.149T>C c.(148-150)CTG>CCG p.L50P NM_001164339 NP_001157811 hypothetical protein LOC404770 TCACCTCTGCAGTTGTGAAAG 0.622 13 59 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119976953 119976953 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr9:119976953C>A uc004bjs.1 - 3 800 c.699G>T c.(697-699)TGG>TGT p.W233C ASTN2_uc004bjr.1_Missense_Mutation_p.W233C|ASTN2_uc004bjt.1_Missense_Mutation_p.W233C NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 233 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GACGCTTCTGCCAACGTCGCT 0.632 15 26 --- --- --- --- PASS C9orf78 51759 broad.mit.edu 37 9 132597006 132597006 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr9:132597006C>A uc004byp.2 - 2 195 c.123G>T c.(121-123)AGG>AGT p.R41S C9orf78_uc004byo.2_5'Flank|C9orf78_uc004byq.1_5'Flank|USP20_uc004bys.2_5'Flank|USP20_uc004byr.2_5'Flank|USP20_uc004byt.1_5'Flank NM_016520 NP_057604 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 41 0 Ovarian(14;0.00556) TGGGCCTCTTCCTCAAGTTCT 0.547 5 86 --- --- --- --- PASS HNRNPF 3185 broad.mit.edu 37 10 43882166 43882166 + Silent SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr10:43882166G>A uc009xmh.1 - 3 1654 c.1167C>T c.(1165-1167)TAC>TAT p.Y389Y HNRNPF_uc001jar.2_Silent_p.Y389Y|HNRNPF_uc001jas.2_Silent_p.Y389Y|HNRNPF_uc001jat.2_Silent_p.Y389Y|HNRNPF_uc001jav.2_Silent_p.Y389Y|HNRNPF_uc001jau.2_Silent_p.Y389Y|uc010qfa.1_5'UTR NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 389 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 CCAGGCCACTGTAAGTGGCCT 0.537 4 111 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89685281 89685281 + Nonsense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr10:89685281C>G uc001kfb.2 + 4 1207 c.176C>G c.(175-177)TCA>TGA p.S59* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 59 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(4)|p.R55fs*1(4)|p.S59*(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.S59P(1)|p.R55fs*2(1)|p.S59L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTTTGGATTCAAAGCATAAA 0.254 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 4 16 --- --- --- --- PASS CYP2C9 1559 broad.mit.edu 37 10 96745806 96745806 + Missense_Mutation SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr10:96745806T>C uc001kka.3 + 8 1191 c.1166T>C c.(1165-1167)ATT>ACT p.I389T CYP2C9_uc009xut.2_Missense_Mutation_p.I387T NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 389 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) ACCATATTAATTTCCCTGACT 0.323 13 64 --- --- --- --- PASS CYP2C9 1559 broad.mit.edu 37 10 96745813 96745813 + Silent SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr10:96745813G>C uc001kka.3 + 8 1198 c.1173G>C c.(1171-1173)CTG>CTC p.L391L CYP2C9_uc009xut.2_Silent_p.L389L NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 391 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAATTTCCCTGACTTCTGTGC 0.328 14 66 --- --- --- --- PASS TRPM5 29850 broad.mit.edu 37 11 2435351 2435351 + Silent SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr11:2435351G>T uc001lwm.3 - 12 1839 c.1830C>A c.(1828-1830)ACC>ACA p.T610T TRPM5_uc010qxl.1_Silent_p.T610T|TRPM5_uc009ydn.2_Silent_p.T612T NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 610 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGTGCAGGCAGGTGGTCTTGC 0.682 4 1 --- --- --- --- PASS LDLRAD3 143458 broad.mit.edu 37 11 36248918 36248918 + Silent SNP G A A rs146712517 TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr11:36248918G>A uc001mwk.1 + 5 775 c.738G>A c.(736-738)GCG>GCA p.A246A LDLRAD3_uc010rey.1_Silent_p.A197A|LDLRAD3_uc010rez.1_Silent_p.A125A|LDLRAD3_uc010rfa.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 246 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCAGCCAGGCGGAGCAGAATG 0.612 4 70 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587196 55587196 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr11:55587196G>T uc010rin.1 + 1 91 c.91G>T c.(91-93)GTT>TTT p.V31F NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) ACTCTTCCTGGTTTTTCTGGC 0.458 13 83 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703274 55703274 + Silent SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr11:55703274G>T uc010ris.1 - 1 603 c.603C>A c.(601-603)CTC>CTA p.L201L NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CGTATGTGGAGAGGAGCCACT 0.383 3 12 --- --- --- --- PASS THRSP 7069 broad.mit.edu 37 11 77775039 77775039 + Missense_Mutation SNP C T T rs147579530 TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr11:77775039C>T uc001oyx.2 + 1 133 c.112C>T c.(112-114)CGG>TGG p.R38W NM_003251 NP_003242 Q92748 THRSP_HUMAN thyroid hormone-responsive protein 38 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(1) 1 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) CAGCCTTCTGCGGGACGTGCA 0.607 4 119 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 274629 274629 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:274629C>G uc001qhw.1 + 7 1836 c.1830C>G c.(1828-1830)AGC>AGG p.S610R IQSEC3_uc001qhu.1_Missense_Mutation_p.S610R NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 913 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AGAAGAAGAGCTCCTCCACGT 0.498 9 91 --- --- --- --- PASS TULP3 7289 broad.mit.edu 37 12 3043692 3043692 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:3043692G>A uc010seh.1 + 8 970 c.889G>A c.(889-891)GCC>ACC p.A297T TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_Missense_Mutation_p.A24T|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.A297T|TULP3_uc010sei.1_Missense_Mutation_p.A154T NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 297 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGTAGGAGCGGCCCACACCCG 0.592 15 100 --- --- --- --- PASS NOP2 4839 broad.mit.edu 37 12 6669272 6669272 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:6669272G>C uc001qph.1 - 15 1949 c.1769C>G c.(1768-1770)TCC>TGC p.S590C NOP2_uc009zeq.1_Missense_Mutation_p.S306C|NOP2_uc001qpi.1_Missense_Mutation_p.S590C|NOP2_uc001qpj.1_Missense_Mutation_p.S19C NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 594 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 ACCTGTCTGGGACTGAGGGAT 0.463 5 30 --- --- --- --- PASS C1S 716 broad.mit.edu 37 12 7177174 7177174 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:7177174G>A uc001qsj.2 + 15 2005 c.1286G>A c.(1285-1287)AGA>AAA p.R429K C1S_uc001qsk.2_Missense_Mutation_p.R429K|C1S_uc001qsl.2_Missense_Mutation_p.R429K|C1S_uc009zfr.2_Missense_Mutation_p.R262K|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 429 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGAGTCCCCAGAGAACCCTTT 0.453 16 91 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12311774 12311774 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:12311774C>A uc001rah.3 - 12 2922 c.2780G>T c.(2779-2781)AGG>ATG p.R927M BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R927M NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 927 Extracellular (Potential).|EGF-like 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) ACTACAAGTCCTGTTGTCAGC 0.458 14 51 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14613896 14613896 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:14613896C>T uc001rbw.2 + 9 2784 c.2626C>T c.(2626-2628)CCA>TCA p.P876S ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.P876S|ATF7IP_uc001rbv.1_Missense_Mutation_p.P875S|ATF7IP_uc001rbx.2_Missense_Mutation_p.P875S|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.P876S|ATF7IP_uc001rca.2_Missense_Mutation_p.P876S NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 876 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GCAGGCTGTTCCAACAGCACA 0.478 6 45 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 39947745 39947745 + Missense_Mutation SNP T G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:39947745T>G uc001rmb.2 - 10 2618 c.2192A>C c.(2191-2193)AAA>ACA p.K731T NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 731 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TTTAATTGTTTTCAGCACTGA 0.313 5 28 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49437450 49437450 + Nonsense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:49437450G>C uc001rta.3 - 23 5435 c.5435C>G c.(5434-5436)TCA>TGA p.S1812* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1812 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTTCCTTTCTGAGCCTCCATC 0.537 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54109071 54109071 + Missense_Mutation SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:54109071T>C uc001sef.2 - 10 1443 c.1299A>G c.(1297-1299)ATA>ATG p.I433M CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.I348M|CALCOCO1_uc010son.1_Missense_Mutation_p.I310M|CALCOCO1_uc001seh.2_Missense_Mutation_p.I433M|CALCOCO1_uc009znd.2_Missense_Mutation_p.I433M|CALCOCO1_uc001seg.2_Missense_Mutation_p.I258M|CALCOCO1_uc010soo.1_Missense_Mutation_p.I426M NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 433 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CCAATCGAAGTATCTCTGCAC 0.527 7 46 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85547826 85547826 + Silent SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:85547826G>A uc001tac.2 + 23 4785 c.4674G>A c.(4672-4674)TTG>TTA p.L1558L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1558 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AGCAAATGTTGAAGAGGGCAC 0.294 3 13 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109654654 109654654 + Missense_Mutation SNP T A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:109654654T>A uc001tob.2 + 24 3612 c.3493T>A c.(3493-3495)TCC>ACC p.S1165T ACACB_uc001toc.2_Missense_Mutation_p.S1165T NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1165 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GCCAGACATGTCCCAGGTGCT 0.537 4 32 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119617441 119617441 + Silent SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr12:119617441G>A uc001txb.2 + 1 847 c.324G>A c.(322-324)GAG>GAA p.E108E HSPB8_uc001txc.2_Silent_p.E108E NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 108 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAAGCCAGAGGAGTTGATGG 0.617 5 24 --- --- --- --- PASS USPL1 10208 broad.mit.edu 37 13 31231868 31231868 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr13:31231868G>C uc001utc.2 + 9 2086 c.1654G>C c.(1654-1656)GAT>CAT p.D552H USPL1_uc001utd.2_Missense_Mutation_p.D223H|USPL1_uc001ute.1_Missense_Mutation_p.D223H NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 552 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TCACCCTAAAGATATATCAGT 0.433 7 121 --- --- --- --- PASS TPP2 7174 broad.mit.edu 37 13 103275340 103275340 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr13:103275340C>T uc001vpi.3 + 6 837 c.734C>T c.(733-735)TCC>TTC p.S245F NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 245 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGAATTACTCCGTTAATATA 0.393 5 167 --- --- --- --- PASS ACIN1 22985 broad.mit.edu 37 14 23549781 23549781 + Silent SNP T G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr14:23549781T>G uc001wit.3 - 6 1265 c.937A>C c.(937-939)AGA>CGA p.R313R ACIN1_uc001wis.3_5'UTR|ACIN1_uc010akg.2_Silent_p.R313R|ACIN1_uc010tnj.1_Silent_p.R273R NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 313 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGTTTTACTCTAGGTATCTCT 0.403 7 80 --- --- --- --- PASS STRN3 29966 broad.mit.edu 37 14 31382827 31382827 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr14:31382827G>A uc001wqu.2 - 10 1493 c.1277C>T c.(1276-1278)TCA>TTA p.S426L STRN3_uc001wqv.2_Missense_Mutation_p.S342L|STRN3_uc010tpj.1_Intron NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 426 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) CATAATAAATGACTTGCCTCC 0.383 5 94 --- --- --- --- PASS FUT8 2530 broad.mit.edu 37 14 66136158 66136158 + Silent SNP A T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr14:66136158A>T uc001xin.2 + 7 1992 c.795A>T c.(793-795)ACA>ACT p.T265T FUT8_uc001xio.2_Silent_p.T265T|FUT8_uc010tsp.1_Silent_p.T102T|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.T265T|FUT8_uc001xiq.2_Silent_p.T136T|FUT8_uc001xis.2_Missense_Mutation_p.M1L NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 265 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TAAGTGAGACATGCACAGACA 0.473 4 51 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26825481 26825481 + Missense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr15:26825481C>A uc001zaz.2 - 6 809 c.667G>T c.(667-669)GTT>TTT p.V223F GABRB3_uc010uae.1_Missense_Mutation_p.V138F|GABRB3_uc001zba.2_Missense_Mutation_p.V223F|GABRB3_uc001zbb.2_Missense_Mutation_p.V279F NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 223 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCGAAGACAACATTCCTCGAG 0.557 6 35 --- --- --- --- PASS ARHGAP11A 9824 broad.mit.edu 37 15 32929036 32929036 + Missense_Mutation SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr15:32929036A>G uc001zgy.1 + 12 2784 c.2062A>G c.(2062-2064)ATA>GTA p.I688V ARHGAP11A_uc010ubw.1_Missense_Mutation_p.I499V|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.I499V NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 688 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) AGAAACAACTATAAAATGTTA 0.323 9 41 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86122914 86122914 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr15:86122914G>A uc002blv.1 + 7 1785 c.1615G>A c.(1615-1617)GCT>ACT p.A539T AKAP13_uc002blt.1_Missense_Mutation_p.A539T|AKAP13_uc002blu.1_Missense_Mutation_p.A539T NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 539 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CTGTGCCCCTGCTGCCAGTTC 0.458 19 58 --- --- --- --- PASS RHCG 51458 broad.mit.edu 37 15 90030051 90030051 + Missense_Mutation SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr15:90030051T>C uc002bnz.2 - 2 374 c.350A>G c.(349-351)TAC>TGC p.Y117C RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_5'UTR NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 117 Extracellular (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) CACGACGATGTAGCGGTCTTG 0.672 10 15 --- --- --- --- PASS RUNDC2A 84127 broad.mit.edu 37 16 12136788 12136788 + Silent SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr16:12136788C>G uc002dbw.1 + 5 344 c.282C>G c.(280-282)CTC>CTG p.L94L NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 94 RUN. ovary(1) 1 AGGAGGTCCTCAACAAGCACG 0.652 T CIITA PMBL|Hodgkin Lymphona| 5 28 --- --- --- --- PASS PLA2G15 23659 broad.mit.edu 37 16 68293349 68293349 + Missense_Mutation SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr16:68293349A>G uc002evr.2 + 6 1111 c.1028A>G c.(1027-1029)TAC>TGC p.Y343C PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Missense_Mutation_p.Y249C|PLA2G15_uc010vlf.1_Missense_Mutation_p.Y143C|PLA2G15_uc002evs.2_Missense_Mutation_p.Y164C NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 343 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 GACTCCTTCTACTATGAGAGC 0.587 18 67 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72166725 72166725 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr16:72166725C>G uc002fcc.3 - 10 1541 c.1369G>C c.(1369-1371)GAG>CAG p.E457Q PMFBP1_uc002fcd.2_Missense_Mutation_p.E457Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E312Q NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 457 Potential. ovary(2) 2 Ovarian(137;0.179) GCCTTGCACTCCGCCTCCTTG 0.577 31 133 --- --- --- --- PASS DPH1 1801 broad.mit.edu 37 17 1939277 1939277 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr17:1939277G>A uc002fts.2 + 4 325 c.307G>A c.(307-309)GAA>AAA p.E103K DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.E98K|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Missense_Mutation_p.E113K|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN diptheria toxin resistance protein required for 103 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus pancreas(1) 1 CACGGAGGCCGAAGTGATGGT 0.642 5 41 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 7 27 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10307790 10307790 + Nonsense_Mutation SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr17:10307790C>A uc002gmm.2 - 22 2640 c.2545G>T c.(2545-2547)GAG>TAG p.E849* uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 849 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATCTCTTTCTCGGTCTCTGCA 0.473 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 10 73 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27028597 27028597 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr17:27028597C>G uc002hby.2 + 37 5225 c.5135C>G c.(5134-5136)TCC>TGC p.S1712C SUPT6H_uc010crt.2_Missense_Mutation_p.S1712C NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1712 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) ACCCCCATGTCCATTGCTGGC 0.637 4 55 --- --- --- --- PASS CSH2 1443 broad.mit.edu 37 17 61950624 61950624 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr17:61950624G>T uc002jch.2 - 2 201 c.86C>A c.(85-87)ACC>AAC p.T29N CSH2_uc002jcg.2_Missense_Mutation_p.T29N|CSH2_uc002jci.2_Missense_Mutation_p.T29N|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.T29N NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 29 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 TAACGGAACGGTTTGGACGGC 0.602 8 103 --- --- --- --- PASS SNRPD1 6632 broad.mit.edu 37 18 19203843 19203843 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr18:19203843C>G uc002ktj.1 + 3 357 c.226C>G c.(226-228)CTG>GTG p.L76V NM_006938 NP_008869 P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide 76 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding|RNA binding 0 CAGTTTACCTCTGGATACACT 0.378 11 31 --- --- --- --- PASS HRH4 59340 broad.mit.edu 37 18 22057388 22057388 + Missense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr18:22057388G>T uc002kvi.2 + 3 1135 c.1035G>T c.(1033-1035)TGG>TGT p.W345C HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.W257C NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 345 Helical; Name=7; (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TTGCATTTTGGCTTCAGTGGT 0.363 26 158 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31463290 31463290 + Silent SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr18:31463290G>T uc010dmi.2 - 10 1870 c.1641C>A c.(1639-1641)ATC>ATA p.I547I NOL4_uc010xbs.1_Silent_p.I262I|NOL4_uc002kxr.3_Silent_p.I319I|NOL4_uc010xbt.1_Silent_p.I473I|NOL4_uc010dmh.2_Silent_p.I409I|NOL4_uc010xbu.1_Silent_p.I483I|NOL4_uc002kxt.3_Silent_p.I445I NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 547 nucleolus RNA binding ovary(3) 3 CATTTCCATTGATGTACAGCA 0.483 9 101 --- --- --- --- PASS C3 718 broad.mit.edu 37 19 6684439 6684439 + Nonsense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:6684439G>A uc002mfm.2 - 33 4194 c.4132C>T c.(4132-4134)CAG>TAG p.Q1378* C3_uc002mfl.2_Nonsense_Mutation_p.Q114* NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1378 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTGGCATCCTGAGGCCTCTTT 0.478 10 77 --- --- --- --- PASS ZNF20 7568 broad.mit.edu 37 19 12244329 12244329 + Silent SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:12244329C>T uc002mtf.1 - 4 815 c.672G>A c.(670-672)GTG>GTA p.V224V ZNF20_uc002mte.1_Silent_p.V189V|ZNF20_uc002mtg.1_Silent_p.V224V NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TATATGGTTTCACACCAGTGT 0.388 25 82 --- --- --- --- PASS C19orf62 29086 broad.mit.edu 37 19 17384808 17384808 + Missense_Mutation SNP T G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:17384808T>G uc002nfu.2 + 4 558 c.440T>G c.(439-441)GTG>GGG p.V147G C19orf62_uc010xpl.1_Intron|C19orf62_uc002nfv.2_Missense_Mutation_p.V147G|C19orf62_uc010ean.2_RNA|C19orf62_uc002nfw.2_Missense_Mutation_p.V147G NM_014173 NP_054892 Q9NWV8 BABA1_HUMAN mediator of Rap80 interactions and targeting 40 147 VWFA-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 TTTGCACTGGTGGTGGTGAAC 0.607 3 34 --- --- --- --- PASS ZNF780B 163131 broad.mit.edu 37 19 40540887 40540887 + Nonsense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:40540887G>A uc002omu.2 - 5 1944 c.1879C>T c.(1879-1881)CAG>TAG p.Q627* ZNF780B_uc002omv.2_Nonsense_Mutation_p.Q479* NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 627 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGATTAAGCTGGGTGTGAAGA 0.403 13 92 --- --- --- --- PASS C19orf47 126526 broad.mit.edu 37 19 40827975 40827975 + Silent SNP A C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:40827975A>C uc002oni.3 - 9 1084 c.1083T>G c.(1081-1083)CTT>CTG p.L361L C19orf47_uc002ong.2_Silent_p.L220L|C19orf47_uc002onh.2_Silent_p.L294L NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 361 ovary(1)|skin(1) 2 Lung(22;0.000636) CCTCGGGCACAAGGGCAGCTG 0.622 9 23 --- --- --- --- PASS CLPTM1 1209 broad.mit.edu 37 19 45490529 45490529 + Nonsense_Mutation SNP G T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:45490529G>T uc002pai.2 + 8 901 c.886G>T c.(886-888)GAG>TAG p.E296* CLPTM1_uc010ejv.1_Nonsense_Mutation_p.E194*|CLPTM1_uc010xxf.1_Nonsense_Mutation_p.E194*|CLPTM1_uc010xxg.1_Nonsense_Mutation_p.E282* NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 296 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CCCCATCAACGAGAGCCTGGC 0.577 12 97 --- --- --- --- PASS NUP62 23636 broad.mit.edu 37 19 50412425 50412425 + Missense_Mutation SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:50412425T>C uc002pqx.2 - 2 744 c.640A>G c.(640-642)ATC>GTC p.I214V IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.I214V|NUP62_uc002pqz.2_Missense_Mutation_p.I214V|NUP62_uc002pra.2_Missense_Mutation_p.I214V|NUP62_uc002prb.2_Missense_Mutation_p.I214V|NUP62_uc002prc.2_Missense_Mutation_p.I214V NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 214 15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTGCTGGTGATGGTGGCTGTG 0.647 6 79 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55143939 55143939 + Nonsense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:55143939C>G uc002qgj.2 + 7 1026 c.686C>G c.(685-687)TCA>TGA p.S229* LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S229*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S229*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.S229*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S229*|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 229 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCATCACTCTCAGTGCAGCCA 0.557 HNSCC(37;0.09) 3 62 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55708712 55708712 + Missense_Mutation SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr19:55708712G>A uc002qjq.2 - 9 1836 c.1763C>T c.(1762-1764)CCT>CTT p.P588L PTPRH_uc010esv.2_Missense_Mutation_p.P410L|PTPRH_uc002qjs.2_Missense_Mutation_p.P595L NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 588 Extracellular (Potential).|Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GGGGTCTCCAGGGGCCTTCCA 0.557 9 33 --- --- --- --- PASS CTSA 5476 broad.mit.edu 37 20 44523469 44523469 + Missense_Mutation SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr20:44523469A>G uc002xqj.3 + 10 1351 c.877A>G c.(877-879)AAG>GAG p.K293E CTSA_uc002xqh.2_Missense_Mutation_p.K311E|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.K294E|CTSA_uc002xqk.3_Missense_Mutation_p.K293E NM_001127695 NP_001121167 P10619 PPGB_HUMAN cathepsin A isoform b precursor 293 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CAGGTATGAGAAGGACACTGT 0.597 12 115 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19715877 19715877 + Silent SNP A G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr21:19715877A>G uc002ykw.2 - 12 1405 c.1374T>C c.(1372-1374)TAT>TAC p.Y458Y NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 458 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AATTGTCTCCATAATTTCCTT 0.294 6 70 --- --- --- --- PASS DSCR9 257203 broad.mit.edu 37 21 38593815 38593815 + RNA SNP T C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr21:38593815T>C uc010gnk.2 + 1 c.927T>C Homo sapiens mRNA, complete cds. 0 AAGAAGGTGATTCAGATTCAG 0.522 8 93 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50717382 50717382 + Missense_Mutation SNP T A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr22:50717382T>A uc003bkv.3 - 28 4554 c.4448A>T c.(4447-4449)AAC>ATC p.N1483I PLXNB2_uc003bkt.1_Missense_Mutation_p.N275I|PLXNB2_uc003bku.1_Missense_Mutation_p.N468I NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1483 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTGTCACAGTTGAGGACCTT 0.632 10 23 --- --- --- --- PASS CHKB 1120 broad.mit.edu 37 22 51019077 51019077 + Silent SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr22:51019077C>T uc003bms.2 - 5 812 c.594G>A c.(592-594)CAG>CAA p.Q198Q CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_5'UTR|CHKB-CPT1B_uc003bmu.2_Silent_p.Q77Q|CHKB_uc003bmv.2_Silent_p.Q198Q|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 198 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) GGTCCTGGATCTGTTTTAGGT 0.562 5 48 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028784 37028784 + Silent SNP T A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chrX:37028784T>A uc004ddl.1 + 1 2315 c.2301T>A c.(2299-2301)CCT>CCA p.P767P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 767 ovary(3) 3 CGGAGCCTCCTGAGACTGGAG 0.632 10 22 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75649243 75649243 + Missense_Mutation SNP C T T TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chrX:75649243C>T uc004ecm.1 + 1 1127 c.920C>T c.(919-921)TCC>TTC p.S307F NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 307 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CTGAGCACCTCCGTGCAGCCC 0.701 8 4 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216453 78216453 + Missense_Mutation SNP C G G TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chrX:78216453C>G uc004ede.2 + 4 805 c.436C>G c.(436-438)CGT>GGT p.R146G P2RY10_uc004edf.2_Missense_Mutation_p.R146G NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 146 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 AGACTGGAAGCGTAGGTACGA 0.488 18 34 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117788715 117788715 + Missense_Mutation SNP G C C TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chrX:117788715G>C uc004eqp.2 + 43 4909 c.4846G>C c.(4846-4848)GAG>CAG p.E1616Q DOCK11_uc004eqq.2_Missense_Mutation_p.E1395Q NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1616 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 AAGCACCCCAGAGCTCAGGAA 0.428 16 30 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122528848 122528848 + Silent SNP C A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chrX:122528848C>A uc004etq.3 + 7 1073 c.780C>A c.(778-780)GTC>GTA p.V260V GRIA3_uc004etr.3_Silent_p.V260V|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.V244V NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 260 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TGGAAAGAGTCATGCATGGGG 0.433 8 27 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129159314 129159314 + Silent SNP G A A TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chrX:129159314G>A uc004evb.1 + 7 4152 c.4038G>A c.(4036-4038)CTG>CTA p.L1346L BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Silent_p.L108L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1346 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GGGAGTACCTGACAGAGCAAG 0.512 16 14 --- --- --- --- PASS MAPKAPK2 9261 broad.mit.edu 37 1 206858676 206858678 + In_Frame_Del DEL GCC - - TCGA-56-5897-01A-11D-1632-08 TCGA-56-5897-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 056acb55-f3ba-4ce0-9735-3cfe6516df55 61551313-41c7-4703-897a-8f1e2ecc2ece g.chr1:206858676_206858678delGCC uc001hem.1 + 1 388_390 c.102_104delGCC c.(100-105)CAGCCG>CAG p.P40del MAPKAPK2_uc001hel.1_In_Frame_Del_p.P40del NM_032960 NP_116584 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated 40 Pro-rich.|Poly-Pro. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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 cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) ccccggcgcagccgccgccgccg 0.271 4 2 --- --- --- ---