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 KIAA1751 85452 broad.mit.edu 37 1 1888127 1888127 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:1888127T>A uc001aim.1 - 17 2104 c.1948A>T c.(1948-1950)ACG>TCG p.T650S KIAA1751_uc009vkz.1_Missense_Mutation_p.T650S NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 650 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TTGAAAGTCGTGCCCAAGCCC 0.582 18 24 --- --- --- --- PASS KAZ 23254 broad.mit.edu 37 1 14925564 14925564 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:14925564C>T uc001avm.3 + 1 352 c.71C>T c.(70-72)ACC>ATC p.T24I KAZ_uc009vog.1_Missense_Mutation_p.T24I|KAZ_uc010obj.1_Missense_Mutation_p.T24I NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 24 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CAGGAGGTGACCAACCTGCGA 0.473 7 12 --- --- --- --- PASS NR0B2 8431 broad.mit.edu 37 1 27240233 27240233 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:27240233C>T uc001bnf.2 - 1 335 c.199G>A c.(199-201)GTG>ATG p.V67M NM_021969 NP_068804 Q15466 NR0B2_HUMAN short heterodimer partner 67 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) AGGAAGGCCACTGTCTTGGCC 0.662 15 8 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67185073 67185073 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:67185073G>A uc001dcr.2 + 19 1944 c.1727G>A c.(1726-1728)GGA>GAA p.G576E SGIP1_uc010opd.1_Missense_Mutation_p.G176E|SGIP1_uc001dcs.2_Missense_Mutation_p.G176E|SGIP1_uc001dct.2_Missense_Mutation_p.G178E|SGIP1_uc009wat.2_Missense_Mutation_p.G370E|SGIP1_uc001dcu.2_Missense_Mutation_p.G81E NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 576 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TATTTCAAAGGAGCAGACCCA 0.468 21 38 --- --- --- --- PASS CLCA1 1179 broad.mit.edu 37 1 86959914 86959914 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:86959914G>T uc001dlt.2 + 11 1854 c.1725G>T c.(1723-1725)TTG>TTT p.L575F CLCA1_uc001dls.1_Missense_Mutation_p.L514F NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 575 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CACAAACCTTGACCCTGACTG 0.488 25 32 --- --- --- --- PASS BRDT 676 broad.mit.edu 37 1 92441932 92441932 + Silent SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:92441932T>C uc001dok.3 + 5 904 c.555T>C c.(553-555)TCT>TCC p.S185S BRDT_uc001dol.3_Silent_p.S185S|BRDT_uc010osz.1_Silent_p.S189S|BRDT_uc009wdf.2_Silent_p.S112S|BRDT_uc010ota.1_Silent_p.S139S|BRDT_uc010otb.1_Silent_p.S139S|BRDT_uc001dom.3_Silent_p.S185S NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTAAGACATCTATTTCTCCCT 0.373 60 72 --- --- --- --- PASS BTBD8 284697 broad.mit.edu 37 1 92546279 92546279 + Splice_Site SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:92546279T>A uc001doo.2 + 1 416 c.149_splice c.e1+2 p.R50_splice BTBD8_uc010otc.1_Splice_Site NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TTTGCTCAGGTAGGAGGAGGC 0.632 6 4 --- --- --- --- PASS RWDD3 25950 broad.mit.edu 37 1 95709967 95709967 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:95709967T>C uc009wdu.2 + 2 362 c.286T>C c.(286-288)TCG>CCG p.S96P RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.S81P|RWDD3_uc009wdt.2_Missense_Mutation_p.S96P|RWDD3_uc001drf.3_Missense_Mutation_p.S96P|RWDD3_uc001drh.3_Missense_Mutation_p.S81P|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.S96P NM_015485 NP_056300 Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 isoform a 96 RWD. cytoplasm|nucleus protein binding ovary(1) 1 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) GAGCCTTTTGTCGGAGCCTAT 0.468 73 81 --- --- --- --- PASS PTBP2 58155 broad.mit.edu 37 1 97250688 97250688 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:97250688A>G uc001drq.2 + 8 1028 c.782A>G c.(781-783)AAT>AGT p.N261S PTBP2_uc001drn.2_Missense_Mutation_p.N261S|PTBP2_uc001dro.2_Missense_Mutation_p.N261S|PTBP2_uc010otz.1_Missense_Mutation_p.N272S|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.N209S|PTBP2_uc001drr.2_Missense_Mutation_p.N261S|PTBP2_uc010oua.1_Missense_Mutation_p.N269S|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 261 nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) GTGAATTTGAATGTAAAATAC 0.388 93 132 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102302451 102302451 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:102302451C>A uc001duf.2 - 2 331 c.260G>T c.(259-261)CGC>CTC p.R87L OLFM3_uc001dug.2_Missense_Mutation_p.R67L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 87 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CAGTAGTTGGCGAAGTTGCCT 0.458 51 58 --- --- --- --- PASS SORT1 6272 broad.mit.edu 37 1 109884723 109884723 + Nonsense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:109884723G>A uc001dxm.1 - 9 1070 c.1021C>T c.(1021-1023)CAG>TAG p.Q341* SORT1_uc010ovi.1_Nonsense_Mutation_p.Q204* NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 341 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GAGGGGAGCTGGGCCATGCTC 0.433 62 62 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145290427 145290427 + Splice_Site SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:145290427A>T uc001emo.2 + 5 1005 c.635_splice c.e5-2 p.A212_splice NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc010oyh.1_Splice_Site|NBPF10_uc001end.3_5'Flank|NBPF10_uc001emq.1_5'Flank NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 CTTTTTGCACAGCAACATGGC 0.393 28 449 --- --- --- --- PASS SMG5 23381 broad.mit.edu 37 1 156244452 156244452 + Silent SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:156244452T>A uc001foc.3 - 5 629 c.480A>T c.(478-480)TCA>TCT p.S160S NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 160 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TCTCCTTCCCTGAGGCAGACA 0.478 145 61 --- --- --- --- PASS OR10J5 127385 broad.mit.edu 37 1 159504938 159504938 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:159504938A>G uc010piw.1 - 1 860 c.860T>C c.(859-861)GTT>GCT p.V287A NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) ACTGTAAACAACAGGGTTCAG 0.423 38 150 --- --- --- --- PASS OR10J5 127385 broad.mit.edu 37 1 159505093 159505093 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:159505093C>T uc010piw.1 - 1 705 c.705G>A c.(703-705)AAG>AAA p.K235K NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) TGGCAAAGGTCTTCTTCCGGC 0.473 19 100 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160098476 160098476 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:160098476G>A uc001fvc.2 + 9 1184 c.1052G>A c.(1051-1053)CGG>CAG p.R351Q ATP1A2_uc001fvb.2_Missense_Mutation_p.R351Q|ATP1A2_uc010piz.1_Missense_Mutation_p.R196Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R87Q|ATP1A2_uc009wtg.1_Missense_Mutation_p.R39Q NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 351 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGCATGGCACGGAAGAACTGC 0.577 15 193 --- --- --- --- PASS LRRC52 440699 broad.mit.edu 37 1 165532887 165532887 + Silent SNP C T T rs140303863 TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:165532887C>T uc001gde.2 + 2 824 c.768C>T c.(766-768)TTC>TTT p.F256F LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 256 Helical; (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TCTGCATCTTCGCCGCGGGAA 0.597 42 13 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171765716 171765716 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:171765716G>T uc001ghz.2 + 8 2267 c.1920G>T c.(1918-1920)CGG>CGT p.R640R METTL13_uc001gia.2_Silent_p.R554R|METTL13_uc001gib.2_Silent_p.R484R|METTL13_uc010pml.1_Silent_p.R639R|METTL13_uc001gic.1_RNA NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 640 methyltransferase activity|protein binding kidney(1) 1 TATATGTCCGGCGAATTGAGG 0.517 86 269 --- --- --- --- PASS KLHL20 27252 broad.mit.edu 37 1 173721005 173721005 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:173721005G>T uc001gjc.2 + 4 879 c.700G>T c.(700-702)GCA>TCA p.A234S KLHL20_uc010pmr.1_Missense_Mutation_p.A45S|KLHL20_uc009wwf.2_Missense_Mutation_p.A216S NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 234 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 AGTGTTCAATGCAGTGATGGC 0.383 27 99 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179478447 179478447 + Nonsense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:179478447G>A uc001gmo.2 + 21 2532 c.2405G>A c.(2404-2406)TGG>TAG p.W802* C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 802 0 TGTTATGAATGGATCAACACA 0.353 22 132 --- --- --- --- PASS CFHR1 3078 broad.mit.edu 37 1 196795988 196795988 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:196795988G>T uc001gtn.2 + 3 397 c.283G>T c.(283-285)GGT>TGT p.G95C CFHR1_uc001gtm.2_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 95 Sushi 2. complement activation extracellular space 0 TGTGGAAAATGGTCATTCTGA 0.348 61 501 --- --- --- --- PASS LHX9 56956 broad.mit.edu 37 1 197896750 197896750 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:197896750G>A uc001guk.1 + 4 1200 c.763G>A c.(763-765)GAC>AAC p.D255N LHX9_uc001gui.1_Missense_Mutation_p.D246N|LHX9_uc001guj.1_Missense_Mutation_p.D261N NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 255 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AGACCACTTGGACCGGGACCA 0.502 125 463 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214171167 214171167 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:214171167C>T uc001hkh.2 + 2 1561 c.1289C>T c.(1288-1290)GCC>GTC p.A430V PROX1_uc001hkg.1_Missense_Mutation_p.A430V NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 430 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GTGCAGATGGCCAGTTCCACT 0.612 70 196 --- --- --- --- PASS HLX 3142 broad.mit.edu 37 1 221055663 221055663 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:221055663G>A uc001hmv.3 + 3 1387 c.930G>A c.(928-930)GCG>GCA p.A310A NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 310 Homeobox. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) AGCAGCTGGCGGCGATGCTGG 0.632 9 43 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237886496 237886496 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:237886496C>T uc001hyl.1 + 74 10743 c.10623C>T c.(10621-10623)ACC>ACT p.T3541T RYR2_uc010pxz.1_Silent_p.T496T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3541 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGATGATACCTCAGATCCAG 0.393 214 112 --- --- --- --- PASS GREM2 64388 broad.mit.edu 37 1 240656438 240656438 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:240656438T>A uc001hys.2 - 2 618 c.338A>T c.(337-339)GAG>GTG p.E113V NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 113 CTCK. BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) GGACTCCTCCTCCTTCTTCAC 0.662 24 102 --- --- --- --- PASS ZNF238 10472 broad.mit.edu 37 1 244218431 244218431 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:244218431G>A uc001iae.2 + 1 1850 c.1328G>A c.(1327-1329)TGC>TAC p.C443Y ZNF238_uc001iad.3_Missense_Mutation_p.C452Y|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 443 C2H2-type 3. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) TGCACCCAGTGCGGCAAGAGC 0.627 33 90 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004824 248004824 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:248004824G>T uc001idn.1 - 1 375 c.375C>A c.(373-375)GCC>GCA p.A125A NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCTGCAGATGGCCAGGTAAC 0.597 34 16 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616129 248616129 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr1:248616129A>G uc001iek.1 + 1 31 c.31A>G c.(31-33)ACT>GCT p.T11A NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGAACTCCACTAACTTCGT 0.502 20 173 --- --- --- --- PASS COLEC11 78989 broad.mit.edu 37 2 3691564 3691564 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:3691564C>T uc002qya.2 + 7 820 c.672C>T c.(670-672)ACC>ACT p.T224T COLEC11_uc002qxz.2_Silent_p.T221T|COLEC11_uc002qyb.2_Silent_p.T200T|COLEC11_uc002qyc.2_Silent_p.T200T|COLEC11_uc010ewo.2_Silent_p.T176T|COLEC11_uc010ewp.2_Silent_p.T198T|COLEC11_uc010ewq.2_Silent_p.T174T|COLEC11_uc010ewr.2_Silent_p.T174T|COLEC11_uc010ews.2_Silent_p.T150T NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 224 C-type lectin. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CCATGCGGACCTTCAACAAGT 0.642 37 87 --- --- --- --- PASS RSAD2 91543 broad.mit.edu 37 2 7027272 7027272 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:7027272G>T uc002qyp.1 + 3 851 c.715G>T c.(715-717)GCA>TCA p.A239S NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 239 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) ACAGATCAAAGCACTAAACCC 0.398 14 59 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32754743 32754743 + Silent SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:32754743A>G uc010ezu.2 + 60 12080 c.11946A>G c.(11944-11946)ACA>ACG p.T3982T MIR558_hsa-mir-558|MI0003564_5'Flank NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3982 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTGAAATGACACTTGCCCAGC 0.373 46 146 --- --- --- --- PASS C2orf56 55471 broad.mit.edu 37 2 37459294 37459294 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:37459294A>T uc002rqa.3 + 2 176 c.101A>T c.(100-102)GAG>GTG p.E34V CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.E34V|C2orf56_uc010ynk.1_Missense_Mutation_p.E34V|C2orf56_uc010ynl.1_Missense_Mutation_p.E34V NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 34 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) TCCGGGAATGAGCCTGCAGAA 0.473 84 186 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80620414 80620414 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:80620414C>A uc010ysh.1 + 7 1140 c.1135C>A c.(1135-1137)CAG>AAG p.Q379K CTNNA2_uc010yse.1_Missense_Mutation_p.Q379K|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q379K|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q379K|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q11K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 379 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCTAAGGAGACAGGTACTATT 0.338 50 170 --- --- --- --- PASS SLC9A2 6549 broad.mit.edu 37 2 103324608 103324608 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:103324608C>A uc002tca.2 + 12 2241 c.2099C>A c.(2098-2100)GCC>GAC p.A700D NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 700 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GACGCAGATGCCGGGACCACC 0.498 59 145 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125262050 125262050 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:125262050G>T uc002tno.2 + 8 1605 c.1241G>T c.(1240-1242)GGA>GTA p.G414V CNTNAP5_uc010flu.2_Missense_Mutation_p.G415V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 414 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GAGGGCTCGGGAACCCTGCTG 0.542 25 89 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130832650 130832650 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:130832650C>T uc010fmh.2 - 17 2795 c.2395G>A c.(2395-2397)GAG>AAG p.E799K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 799 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 GGGTGCTCCTCGGGAGCCACA 0.577 59 174 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137814051 137814051 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:137814051G>T uc002tva.1 + 2 108 c.108G>T c.(106-108)TGG>TGT p.W36C THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GGGCAGTGTGGTGTTTTCATG 0.507 32 85 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155555400 155555400 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:155555400T>C uc002tyv.1 + 1 308 c.113T>C c.(112-114)GTG>GCG p.V38A KCNJ3_uc010zce.1_Missense_Mutation_p.V38A NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 38 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CAGCAGCTTGTGCCCAAGAAG 0.622 18 50 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 160035208 160035208 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:160035208G>A uc002uag.2 + 14 2318 c.2044G>A c.(2044-2046)GGC>AGC p.G682S TANC1_uc010fol.1_Missense_Mutation_p.G576S|TANC1_uc010zcm.1_Missense_Mutation_p.G674S|TANC1_uc010fom.1_Missense_Mutation_p.G488S|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 682 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CTCCCTGAATGGCAAGGCCGA 0.572 36 84 --- --- --- --- PASS TANK 10010 broad.mit.edu 37 2 162087631 162087631 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:162087631A>T uc002ubr.1 + 7 828 c.670A>T c.(670-672)ACC>TCC p.T224S TANK_uc002ubs.2_Missense_Mutation_p.T224S NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 224 cytosol metal ion binding|protein binding ovary(1) 1 TGAGGAAGACACCTCTTTTGA 0.433 64 182 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163059575 163059575 + Silent SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:163059575A>G uc002ucd.2 - 13 1336 c.1128T>C c.(1126-1128)CAT>CAC p.H376H FAP_uc010zct.1_Silent_p.H351H|FAP_uc010fpd.2_Intron NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 376 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TATAGTGAATATGTTTGTAGC 0.363 29 84 --- --- --- --- PASS IFIH1 64135 broad.mit.edu 37 2 163174519 163174519 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:163174519G>A uc002uce.2 - 1 521 c.299C>T c.(298-300)ACG>ATG p.T100M IFIH1_uc002ucf.2_Missense_Mutation_p.T100M NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 100 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GGGCAAGTCCGTGAGCTCAGG 0.572 94 204 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 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) 49 113 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179441405 179441405 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:179441405G>A uc010zfg.1 - 274 62086 c.61862C>T c.(61861-61863)GCA>GTA p.A20621V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14316V|TTN_uc010zfi.1_Missense_Mutation_p.A14249V|TTN_uc010zfj.1_Missense_Mutation_p.A14124V|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21548 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) TGTTTTTATTGCTCTCACCCA 0.468 145 339 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179633506 179633506 + Silent SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:179633506T>C uc010zfg.1 - 38 9281 c.9057A>G c.(9055-9057)AAA>AAG p.K3019K TTN_uc010zfh.1_Silent_p.K2973K|TTN_uc010zfi.1_Silent_p.K2973K|TTN_uc010zfj.1_Silent_p.K2973K|TTN_uc002unb.2_Silent_p.K3019K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3019 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) GTGTGAGCTTTTTGGTTCTCA 0.418 49 140 --- --- --- --- PASS ITGA4 3676 broad.mit.edu 37 2 182360566 182360566 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:182360566G>A uc002unu.2 + 14 2205 c.1442G>A c.(1441-1443)AGA>AAA p.R481K ITGA4_uc010frj.1_5'Flank NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 481 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAGTAAATAGAACGAAATTT 0.373 62 171 --- --- --- --- PASS CALCRL 10203 broad.mit.edu 37 2 188247906 188247906 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:188247906C>G uc002upv.3 - 5 726 c.178G>C c.(178-180)GCA>CCA p.A60P CALCRL_uc010frt.2_Missense_Mutation_p.A60P NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 60 Extracellular (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TTACCTTCTGCTTGTTGAATG 0.338 74 195 --- --- --- --- PASS ANKRD44 91526 broad.mit.edu 37 2 197878392 197878392 + Silent SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:197878392C>G uc002uua.1 - 18 1769 c.1692G>C c.(1690-1692)TCG>TCC p.S564S ANKRD44_uc002utz.3_Silent_p.S296S NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 589 ANK 17. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) GGTCCACCAACGACTGCAGAA 0.532 112 266 --- --- --- --- PASS NIF3L1 60491 broad.mit.edu 37 2 201761925 201761925 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:201761925G>T uc002uwm.2 + 5 944 c.853G>T c.(853-855)GGG>TGG p.G285W NIF3L1_uc002uwl.2_Missense_Mutation_p.G258W|NIF3L1_uc002uwn.2_Missense_Mutation_p.G258W|NIF3L1_uc002uwo.2_Missense_Mutation_p.G285W|NIF3L1_uc002uwp.2_Missense_Mutation_p.G285W|NIF3L1_uc002uwq.2_Intron NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 285 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 CCTTGGGGTGGGGAGAACCTT 0.403 72 142 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214215364 214215364 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:214215364G>T uc002veq.2 + 7 849 c.757G>T c.(757-759)GGG>TGG p.G253W SPAG16_uc010fuz.1_Missense_Mutation_p.G104W|SPAG16_uc002ver.2_Missense_Mutation_p.G199W|SPAG16_uc010zjk.1_Missense_Mutation_p.G159W|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.G222W NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 253 Potential. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CAAAGTAGTTGGGCAGGTAAA 0.313 30 91 --- --- --- --- PASS SMARCAL1 50485 broad.mit.edu 37 2 217279494 217279494 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:217279494C>G uc002vgc.3 + 3 397 c.67C>G c.(67-69)CGC>GGC p.R23G SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R23G|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R23G NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 23 Potential. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GGCTCTGGCCCGCAGAGCTGA 0.498 Schimke_Immuno-Osseous_Dysplasia 77 169 --- --- --- --- PASS CRYBA2 1412 broad.mit.edu 37 2 219857818 219857818 + Silent SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:219857818A>G uc002vjj.1 - 2 116 c.81T>C c.(79-81)TGT>TGC p.C27C CRYBA2_uc002vjk.1_Silent_p.C27C NM_057094 NP_476435 P53672 CRBA2_HUMAN crystallin, beta A2 27 Beta/gamma crystallin 'Greek key' 1. structural constituent of eye lens 0 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTAGCAGCCGACAGCGACGGC 0.572 11 22 --- --- --- --- PASS FAM124B 79843 broad.mit.edu 37 2 225266335 225266335 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:225266335C>A uc002vnx.2 - 1 377 c.151G>T c.(151-153)GTG>TTG p.V51L FAM124B_uc002vnw.2_Missense_Mutation_p.V51L NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 51 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CAGTATTTCACAGGACTGGCC 0.572 24 55 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882360 228882360 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:228882360C>T uc002vpq.2 - 7 3257 c.3210G>A c.(3208-3210)CTG>CTA p.L1070L SPHKAP_uc002vpp.2_Silent_p.L1070L|SPHKAP_uc010zlx.1_Silent_p.L1070L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1070 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTCGCCACTCAGTAACCGAT 0.567 18 96 --- --- --- --- PASS OR6B3 150681 broad.mit.edu 37 2 240984557 240984557 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:240984557G>T uc010zoe.1 - 1 933 c.933C>A c.(931-933)GCC>GCA p.A311A PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TCCCCTCTACGGCGCAGCTCG 0.473 89 106 --- --- --- --- PASS SGOL1 151648 broad.mit.edu 37 3 20212600 20212600 + Silent SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:20212600T>A uc003cbs.2 - 7 1594 c.1407A>T c.(1405-1407)CCA>CCT p.P469P SGOL1_uc003cbr.2_Silent_p.P200P|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Silent_p.P217P|SGOL1_uc003cbu.2_Silent_p.P469P|SGOL1_uc003cbv.2_Silent_p.P217P|SGOL1_uc003cbw.2_Silent_p.P200P|SGOL1_uc003cbx.2_Silent_p.P217P|SGOL1_uc003cby.2_Silent_p.P200P|SGOL1_uc003cbz.2_Silent_p.P469P|SGOL1_uc003cca.2_Silent_p.P469P|SGOL1_uc003ccb.2_Silent_p.P217P|SGOL1_uc003ccc.2_Silent_p.P200P NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 469 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 GAGCCACTGCTGGGCTTGCTT 0.438 16 28 --- --- --- --- PASS GADL1 339896 broad.mit.edu 37 3 30885900 30885900 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:30885900C>A uc003cep.2 - 7 757 c.710G>T c.(709-711)TGC>TTC p.C237F GADL1_uc003ceq.1_Missense_Mutation_p.C237F NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 237 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) TTCCACAAAGCAAACATTCTC 0.433 108 156 --- --- --- --- PASS RRP9 9136 broad.mit.edu 37 3 51967584 51967584 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:51967584G>T uc003dbw.1 - 15 1405 c.1366C>A c.(1366-1368)CGG>AGG p.R456R NM_004704 NP_004695 O43818 U3IP2_HUMAN RNA, U3 small nucleolar interacting protein 2 456 WD 7. rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) ACAGAATTCCGAGCCTCTTTG 0.572 31 33 --- --- --- --- PASS ACY1 95 broad.mit.edu 37 3 52022593 52022593 + Silent SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:52022593A>T uc003dcp.2 + 13 1036 c.975A>T c.(973-975)GCA>GCT p.A325A ACY1_uc011bea.1_Silent_p.A415A|ACY1_uc003dcq.2_Silent_p.A325A NM_000666 NP_000657 Q03154 ACY1_HUMAN aminoacylase 1 325 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) CTTGGTGGGCAGCTTTTAGCC 0.463 24 44 --- --- --- --- PASS WDR82 80335 broad.mit.edu 37 3 52312361 52312361 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:52312361C>G uc003ddl.2 - 1 299 c.17G>C c.(16-18)AGC>ACC p.S6T NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN WD repeat domain 82 6 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding 0 BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) CCGCAACACGCTGTCGGTCAG 0.323 14 10 --- --- --- --- PASS MIR567 693152 broad.mit.edu 37 3 111831729 111831729 + RNA SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:111831729A>G hsa-mir-567|MI0003573 + c.82A>G C3orf52_uc003dyq.3_Intron|C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron 0 AAACTAAAAAAAAAAAAAGTT 0.333 10 27 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112358447 112358447 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:112358447C>T uc003dzf.2 - 2 524 c.306G>A c.(304-306)GTG>GTA p.V102V CCDC80_uc011bhv.1_Silent_p.V102V|CCDC80_uc003dzg.2_Silent_p.V102V|CCDC80_uc003dzh.1_Silent_p.V102V NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 102 ovary(2) 2 GCTCAGGTCTCACGGCGGCCC 0.607 32 140 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113849981 113849981 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:113849981C>T uc003ebd.2 - 7 1413 c.990G>A c.(988-990)ATG>ATA p.M330I DRD3_uc010hqn.1_Missense_Mutation_p.M330I|DRD3_uc003ebb.1_Missense_Mutation_p.M297I|DRD3_uc003ebc.1_Missense_Mutation_p.M330I NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 330 Helical; Name=6. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CAATGGCCACCATTTGGGTTG 0.388 129 65 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118621695 118621695 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:118621695C>T uc003ebw.2 - 7 1215 c.968G>A c.(967-969)AGC>AAC p.S323N IGSF11_uc011biv.1_Missense_Mutation_p.S295N|IGSF11_uc003ebx.2_Missense_Mutation_p.S299N|IGSF11_uc003eby.2_Missense_Mutation_p.S322N|IGSF11_uc003ebz.2_Missense_Mutation_p.S298N|IGSF11_uc010hqs.2_Missense_Mutation_p.S322N NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 323 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TGGATTGTTGCTCCAGTATCG 0.463 42 264 --- --- --- --- PASS ATP2C1 27032 broad.mit.edu 37 3 130656305 130656305 + Nonsense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:130656305C>T uc003enl.2 + 6 580 c.358C>T c.(358-360)CAG>TAG p.Q120* ATP2C1_uc011blg.1_Nonsense_Mutation_p.Q154*|ATP2C1_uc011blh.1_Nonsense_Mutation_p.Q115*|ATP2C1_uc011bli.1_Nonsense_Mutation_p.Q154*|ATP2C1_uc003enk.2_Nonsense_Mutation_p.Q104*|ATP2C1_uc003enm.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enn.2_Nonsense_Mutation_p.Q104*|ATP2C1_uc003eno.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enp.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enq.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003enr.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003ens.2_Nonsense_Mutation_p.Q120*|ATP2C1_uc003ent.2_Nonsense_Mutation_p.Q120* NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 120 Helical; Name=2; (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TGCCTTTGTTCAGGTAAGTAC 0.338 Hailey-Hailey_disease 39 146 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147131323 147131323 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:147131323C>G uc003ewe.2 + 3 2048 c.1329C>G c.(1327-1329)AAC>AAG p.N443K NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 443 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCAATTTTAACGAATGGTACG 0.473 34 115 --- --- --- --- PASS C3orf33 285315 broad.mit.edu 37 3 155481693 155481693 + Missense_Mutation SNP G T T rs115731681 by1000genomes TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:155481693G>T uc003fal.1 - 6 639 c.369C>A c.(367-369)AGC>AGA p.S123R C3orf33_uc003fam.1_Missense_Mutation_p.S166R NM_173657 NP_775928 Q96NB5 Q96NB5_HUMAN hypothetical protein LOC285315 123 hydrolase activity, acting on ester bonds|nucleic acid binding 0 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCAGATTCACGCTGAAATATC 0.303 5 49 --- --- --- --- PASS GPR160 26996 broad.mit.edu 37 3 169801789 169801789 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:169801789C>A uc003fgi.2 + 4 619 c.29C>A c.(28-30)TCT>TAT p.S10Y GPR160_uc010hwq.2_Missense_Mutation_p.S10Y NM_014373 NP_055188 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 10 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAGAACTGCTCTTTTCAGTAC 0.353 198 225 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195515753 195515753 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr3:195515753C>T uc011bto.1 - 2 3158 c.2698G>A c.(2698-2700)GAG>AAG p.E900K MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.E782K NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 905 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCGGCTGTCTCCTGAGGAGAG 0.612 36 39 --- --- --- --- PASS FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 2 10 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6083357 6083357 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:6083357G>T uc003giu.3 - 6 1356 c.1080C>A c.(1078-1080)CTC>CTA p.L360L JAKMIP1_uc010idb.1_Silent_p.L360L|JAKMIP1_uc010idc.1_Silent_p.L195L|JAKMIP1_uc010idd.1_Silent_p.L360L|JAKMIP1_uc011bwc.1_Silent_p.L195L|JAKMIP1_uc003giv.3_Silent_p.L360L|JAKMIP1_uc010ide.2_Silent_p.L360L NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 360 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TTTCCCGCGTGAGGTTCTTGA 0.527 28 122 --- --- --- --- PASS ABLIM2 84448 broad.mit.edu 37 4 8108243 8108243 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:8108243G>T uc003gko.2 - 2 275 c.132C>A c.(130-132)CAC>CAA p.H44Q ABLIM2_uc003gkj.3_Missense_Mutation_p.H44Q|ABLIM2_uc003gkm.3_Missense_Mutation_p.H44Q|ABLIM2_uc003gkp.2_Missense_Mutation_p.H44Q|ABLIM2_uc003gkq.2_Missense_Mutation_p.H44Q|ABLIM2_uc003gkr.2_Missense_Mutation_p.H44Q|ABLIM2_uc003gks.3_Missense_Mutation_p.H44Q|ABLIM2_uc011bwl.1_Missense_Mutation_p.H49Q NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 44 LIM zinc-binding 1. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 AGCACTTGATGTGGAAGTACT 0.642 9 6 --- --- --- --- PASS TBC1D19 55296 broad.mit.edu 37 4 26689973 26689973 + Nonsense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:26689973A>T uc003gsf.3 + 13 1168 c.898A>T c.(898-900)AAG>TAG p.K300* TBC1D19_uc010iew.2_Nonsense_Mutation_p.K300*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.K235* NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 300 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) ATAGGATGTGAAGTTGACAGC 0.284 38 76 --- --- --- --- PASS CENPC1 1060 broad.mit.edu 37 4 68396613 68396613 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:68396613T>A uc003hdd.1 - 5 434 c.251A>T c.(250-252)AAG>ATG p.K84M CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.K84M NM_001812 NP_001803 Q03188 CENPC_HUMAN centromere protein C 1 84 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding urinary_tract(1)|lung(1) 2 TGGAACTGACTTTGGATGTGA 0.368 22 11 --- --- --- --- PASS NKX6-1 4825 broad.mit.edu 37 4 85414486 85414486 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:85414486C>A uc003hpa.1 - 3 1066 c.1060G>T c.(1060-1062)GGC>TGC p.G354C NM_006168 NP_006159 P78426 NKX61_HUMAN NK6 transcription factor related, locus 1 354 Poly-Gly.|Involved in DNA-binding (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) AGGAGGCCGCCGCCGCCGCCG 0.667 12 31 --- --- --- --- PASS TUBB4Q 56604 broad.mit.edu 37 4 190905449 190905449 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr4:190905449G>T uc011clg.1 - 3 238 c.235C>A c.(235-237)CCC>ACC p.P79T NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 80 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) TGCCCGAAGGGCCCCGAGCGC 0.667 13 56 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975401 21975401 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:21975401C>T uc010iuc.2 - 3 783 c.325G>A c.(325-327)GGG>AGG p.G109R CDH12_uc011cno.1_Missense_Mutation_p.G109R|CDH12_uc003jgk.2_Missense_Mutation_p.G109R NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 109 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TGAATGTCCCCTGTGGTTTCA 0.498 HNSCC(59;0.17) 109 197 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31323023 31323023 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:31323023G>A uc003jhe.1 + 12 2307 c.1981G>A c.(1981-1983)GAC>AAC p.D661N NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 661 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CAGTTACAACGACGAAGGTGG 0.488 57 114 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382178 41382178 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:41382178C>A uc003jmm.1 - 2 664 c.562G>T c.(562-564)GAC>TAC p.D188Y NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 188 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 ACTTGATAGTCCTTCTCCCAC 0.488 116 182 --- --- --- --- PASS MGC42105 167359 broad.mit.edu 37 5 43280396 43280396 + Silent SNP G A A rs143914564 byFrequency TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:43280396G>A uc003jno.2 + 4 1757 c.876G>A c.(874-876)CCG>CCA p.P292P NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 292 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 GTGTACCGCCGCACGTGTCAG 0.537 35 103 --- --- --- --- PASS AP3B1 8546 broad.mit.edu 37 5 77423970 77423970 + Nonsense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:77423970G>A uc003kfj.2 - 17 1977 c.1852C>T c.(1852-1854)CAG>TAG p.Q618* NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 618 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GTGCCAAGCTGGAAATGATCT 0.373 Hermansky-Pudlak_syndrome 29 67 --- --- --- --- PASS SCAMP1 9522 broad.mit.edu 37 5 77684689 77684689 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:77684689A>G uc003kfl.2 + 2 243 c.86A>G c.(85-87)AAT>AGT p.N29S SCAMP1_uc010jaa.2_RNA|SCAMP1_uc011ctc.1_Intron|SCAMP1_uc011ctd.1_RNA NM_004866 NP_004857 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 29 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding 0 all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) GTGACAAGAAATGTTCCACCA 0.279 5 13 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79031918 79031918 + Nonsense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:79031918G>T uc003kgc.2 + 2 7402 c.7330G>T c.(7330-7332)GAG>TAG p.E2444* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2444 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AATTTCTGAAGAGGAAACAAA 0.353 22 50 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127730898 127730898 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:127730898A>T uc003kuu.2 - 9 1587 c.1148T>A c.(1147-1149)ATG>AAG p.M383K FBN2_uc003kuv.2_Missense_Mutation_p.M350K NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 383 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CATTTTCGTCATTCTCCCCGG 0.542 9 46 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127744403 127744403 + Nonsense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:127744403C>A uc003kuu.2 - 8 1481 c.1042G>T c.(1042-1044)GGA>TGA p.G348* FBN2_uc003kuv.2_Nonsense_Mutation_p.G315* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 348 EGF-like 5; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTTACATATCCACGTGGACAA 0.443 49 85 --- --- --- --- PASS RAD50 10111 broad.mit.edu 37 5 131939024 131939024 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:131939024T>A uc003kxi.2 + 14 2627 c.2240T>A c.(2239-2241)ATA>AAA p.I747K RAD50_uc003kxh.2_Missense_Mutation_p.I608K NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 747 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGAAGGAAATACCAGAATTA 0.269 Homologous_recombination 13 47 --- --- --- --- PASS IK 3550 broad.mit.edu 37 5 140032730 140032730 + Splice_Site SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:140032730G>A uc003lgq.2 + 5 514 c.404_splice c.e5+1 p.A135_splice IK_uc011czk.1_Splice_Site_p.A135_splice NM_006083 NP_006074 Q13123 RED_HUMAN RED protein cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTGAGGCGTGAGTACTGA 0.502 30 64 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140207985 140207985 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:140207985C>A uc003lho.2 + 1 336 c.309C>A c.(307-309)AGC>AGA p.S103R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S103R|PCDHA6_uc011dab.1_Missense_Mutation_p.S103R NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 103 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGAGTGCAGCATCCACCTGG 0.587 48 252 --- --- --- --- PASS PCDHA11 56138 broad.mit.edu 37 5 140248877 140248877 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:140248877G>A uc003lia.2 + 1 1047 c.189G>A c.(187-189)CTG>CTA p.L63L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L63L NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 63 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGCGCCTGTTCCGGGTGG 0.612 89 120 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140595315 140595315 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:140595315G>T uc003lja.1 + 1 1807 c.1620G>T c.(1618-1620)GCG>GCT p.A540A NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 540 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCCCGGCGCTGAGCAGCG 0.697 24 44 --- --- --- --- PASS PCDHGB4 8641 broad.mit.edu 37 5 140768582 140768582 + Silent SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:140768582T>C uc003lkc.1 + 1 1131 c.1131T>C c.(1129-1131)AAT>AAC p.N377N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.N377N NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 377 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGACACAATGGAGAAGTGA 0.408 31 126 --- --- --- --- PASS ARAP3 64411 broad.mit.edu 37 5 141059334 141059334 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:141059334C>T uc003llm.2 - 3 658 c.580G>A c.(580-582)GGC>AGC p.G194S ARAP3_uc003lln.2_Missense_Mutation_p.G116S|ARAP3_uc003llo.1_Missense_Mutation_p.G194S NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 194 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 TTACCTGTGCCTGTTGTGGGC 0.582 55 89 --- --- --- --- PASS SLC36A3 285641 broad.mit.edu 37 5 150663691 150663691 + Missense_Mutation SNP G C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:150663691G>C uc003ltw.2 - 8 1307 c.888C>G c.(886-888)ATC>ATG p.I296M GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.I281M|SLC36A3_uc003ltx.2_Missense_Mutation_p.I337M NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 296 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGATATAGAGGATGATGACAA 0.473 92 143 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156755026 156755026 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:156755026A>G uc003lwq.2 + 21 2263 c.2125A>G c.(2125-2127)ATC>GTC p.I709V CYFIP2_uc011ddn.1_Missense_Mutation_p.I683V|CYFIP2_uc011ddo.1_Missense_Mutation_p.I513V|CYFIP2_uc003lwr.2_Missense_Mutation_p.I709V|CYFIP2_uc003lws.2_Missense_Mutation_p.I709V|CYFIP2_uc003lwt.2_Missense_Mutation_p.I612V|CYFIP2_uc011ddp.1_Missense_Mutation_p.I443V NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 734 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCAGACCAGATCTTTGCTTA 0.473 25 65 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156920133 156920133 + Nonsense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:156920133C>A uc003lwz.2 - 16 1820 c.1756G>T c.(1756-1758)GAG>TAG p.E586* ADAM19_uc003lww.1_Nonsense_Mutation_p.E319*|ADAM19_uc003lwy.2_Nonsense_Mutation_p.E185*|ADAM19_uc011ddr.1_Nonsense_Mutation_p.E517* NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 586 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCGTTGGACTCCAGGGGCCGG 0.602 37 94 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156920134 156920134 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:156920134C>A uc003lwz.2 - 16 1819 c.1755G>T c.(1753-1755)CTG>CTT p.L585L ADAM19_uc003lww.1_Silent_p.L318L|ADAM19_uc003lwy.2_Silent_p.L184L|ADAM19_uc011ddr.1_Silent_p.L516L NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 585 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGTTGGACTCCAGGGGCCGGG 0.602 39 92 --- --- --- --- PASS GABRA6 2559 broad.mit.edu 37 5 161117260 161117260 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:161117260T>A uc003lyu.2 + 7 1065 c.727T>A c.(727-729)TTC>ATC p.F243I GABRA6_uc003lyv.2_Missense_Mutation_p.F14I NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 243 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGGGCTACTTCATGATACA 0.403 TCGA Ovarian(5;0.080) 38 171 --- --- --- --- PASS PROP1 5626 broad.mit.edu 37 5 177419787 177419787 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr5:177419787G>T uc003mif.1 - 3 913 c.604C>A c.(604-606)CCT>ACT p.P202T NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 202 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCCGGCAGGGGCTGGGTGC 0.627 6 12 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17669736 17669736 + Silent SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:17669736T>A uc003ncd.1 - 6 1094 c.894A>T c.(892-894)GCA>GCT p.A298A NUP153_uc011dje.1_Silent_p.A298A|NUP153_uc010jpl.1_Silent_p.A298A NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 298 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CGTAAGATTGTGCACTGAGTT 0.368 27 120 --- --- --- --- PASS ZKSCAN4 387032 broad.mit.edu 37 6 28213601 28213601 + Nonsense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:28213601G>A uc003nks.1 - 5 1175 c.931C>T c.(931-933)CAG>TAG p.Q311* ZKSCAN4_uc011dlb.1_Nonsense_Mutation_p.Q156* NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 311 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GCATTTTTCTGCTTTCTTTGT 0.468 22 139 --- --- --- --- PASS PBX2 5089 broad.mit.edu 37 6 32155870 32155870 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:32155870C>A uc003oav.1 - 4 878 c.607G>T c.(607-609)GTG>TTG p.V203L PBX2_uc003oaw.2_Missense_Mutation_p.V203L NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 203 transcription factor binding ovary(1) 1 TTGGGGGCCACGGGCCTGGTG 0.592 3 16 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70990709 70990709 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:70990709G>T uc003pfg.3 - 9 1069 c.910C>A c.(910-912)CCG>ACG p.P304T COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Missense_Mutation_p.P61T NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 304 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CAACTTACCGGGGGGCCCGGG 0.562 44 99 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75797406 75797406 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:75797406G>A uc003phs.2 - 65 9234 c.9068C>T c.(9067-9069)CCT>CTT p.P3023L COL12A1_uc003pht.2_Missense_Mutation_p.P1859L NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 3023 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 AGGGGGGCCAGGGGGACCTCT 0.537 23 127 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79725400 79725400 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:79725400T>C uc003pir.2 - 14 1562 c.1336A>G c.(1336-1338)ATG>GTG p.M446V PHIP_uc011dyp.1_Missense_Mutation_p.M446V NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 446 WD 6. insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTCAGAGTCATGTTATTAACT 0.328 30 128 --- --- --- --- PASS TAAR8 83551 broad.mit.edu 37 6 132873902 132873902 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:132873902C>G uc011ecj.1 + 1 71 c.71C>G c.(70-72)ACT>AGT p.T24S NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 24 Extracellular (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) TGTATTGAAACTCCCTATTCT 0.428 38 214 --- --- --- --- PASS RPS12 6206 broad.mit.edu 37 6 133136222 133136222 + Missense_Mutation SNP A C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:133136222A>C uc003qdx.2 + 3 208 c.126A>C c.(124-126)TTA>TTC p.L42F RPS12_uc003qdy.1_5'Flank NM_001016 NP_001007 P25398 RS12_HUMAN ribosomal protein S12 42 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome 0 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) CCAAAGCCTTAGACAAGTACG 0.488 41 80 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138655303 138655303 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:138655303C>T uc003qhu.2 + 33 5320 c.5320C>T c.(5320-5322)CTG>TTG p.L1774L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1774 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ATTCGACCTGCTGCTGGACTC 0.552 6 35 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143093952 143093952 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:143093952G>A uc003qjd.2 - 5 2667 c.1924C>T c.(1924-1926)CGG>TGG p.R642W NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TAGGGTTTCCGACAGACATCA 0.453 42 182 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146480634 146480634 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:146480634C>A uc010khw.1 + 3 1321 c.851C>A c.(850-852)GCT>GAT p.A284D GRM1_uc010khu.1_Missense_Mutation_p.A284D|GRM1_uc010khv.1_Missense_Mutation_p.A284D|GRM1_uc003qll.2_Missense_Mutation_p.A284D|GRM1_uc011edz.1_Missense_Mutation_p.A284D|GRM1_uc011eea.1_Missense_Mutation_p.A284D NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 284 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CTTCCCAAGGCTAGAGTGGTG 0.572 22 39 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152676045 152676045 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr6:152676045C>A uc010kiw.2 - 67 11277 c.10675G>T c.(10675-10677)GTG>TTG p.V3559L SYNE1_uc003qot.3_Missense_Mutation_p.V3566L|SYNE1_uc003qou.3_Missense_Mutation_p.V3559L|SYNE1_uc010kja.1_Missense_Mutation_p.V264L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3559 HAT 7.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GATGGGATCACATCCTCTCTG 0.557 HNSCC(10;0.0054) 36 241 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7612969 7612969 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:7612969G>T uc003srf.2 + 4 1171 c.863G>T c.(862-864)AGG>ATG p.R288M MIOS_uc010ktp.1_Missense_Mutation_p.R288M NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 288 WD 5. 0 ACTTTAACAAGGGATAGTAAT 0.398 75 183 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21598522 21598522 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:21598522T>C uc003svc.2 + 3 629 c.598T>C c.(598-600)TAT>CAT p.Y200H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 200 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AAAGAAGATGTATATTTTTAG 0.363 Kartagener_syndrome 15 23 --- --- --- --- PASS SKAP2 8935 broad.mit.edu 37 7 26729970 26729970 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:26729970C>A uc003syc.2 - 10 1101 c.808G>T c.(808-810)GAC>TAC p.D270Y SKAP2_uc011jzi.1_Missense_Mutation_p.D98Y|SKAP2_uc011jzj.1_Missense_Mutation_p.D255Y NM_003930 NP_003921 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 270 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity pancreas(1) 1 GGAGCACTGTCCTCTTCTTCT 0.383 49 151 --- --- --- --- PASS TRIL 9865 broad.mit.edu 37 7 28997605 28997605 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:28997605G>T uc003szt.2 - 1 425 c.58C>A c.(58-60)CCG>ACG p.P20T uc003szu.1_5'Flank NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine rich repeats 20 inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding 0 GGCAGCGGCGGGAGCGCGAGG 0.731 14 16 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31815290 31815290 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:31815290G>T uc003tcm.1 - 17 2417 c.1948C>A c.(1948-1950)CTT>ATT p.L650I PDE1C_uc003tcn.1_Missense_Mutation_p.L650I|PDE1C_uc003tco.1_Missense_Mutation_p.L710I NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 650 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) GGCAACGTAAGGCGACACGTG 0.488 21 33 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31876849 31876849 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:31876849G>T uc003tcm.1 - 11 1617 c.1148C>A c.(1147-1149)GCA>GAA p.A383E PDE1C_uc003tcn.1_Missense_Mutation_p.A383E|PDE1C_uc003tco.1_Missense_Mutation_p.A443E|PDE1C_uc003tcr.2_Missense_Mutation_p.A383E|PDE1C_uc003tcs.2_Missense_Mutation_p.A383E NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 383 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) GAGGTCCCATGCTTTTGCTGG 0.453 47 116 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71130396 71130396 + Missense_Mutation SNP G C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:71130396G>C uc003tvy.2 + 7 1081 c.1081G>C c.(1081-1083)GTA>CTA p.V361L WBSCR17_uc003tvz.2_Missense_Mutation_p.V60L NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 361 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTACCCCTAGGTATGGCTCTG 0.502 61 169 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100459472 100459472 + Missense_Mutation SNP G C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:100459472G>C uc003uwp.2 + 12 1792 c.1650G>C c.(1648-1650)TTG>TTC p.L550F SLC12A9_uc003uwq.2_Missense_Mutation_p.L461F|SLC12A9_uc011kki.1_Missense_Mutation_p.L81F|SLC12A9_uc003uwr.2_Missense_Mutation_p.L286F|SLC12A9_uc003uws.2_Missense_Mutation_p.L81F|SLC12A9_uc003uwt.2_Missense_Mutation_p.L286F|SLC12A9_uc003uwv.2_Missense_Mutation_p.L81F NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 550 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCTGCGGTTGGCCAACCAGC 0.657 17 27 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551477 100551477 + RNA SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:100551477A>T uc003uxk.1 + 1 c.728A>T uc003uxl.1_5'UTR Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. CAACTCGAACACACATCATTT 0.493 36 166 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915250 119915250 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:119915250C>T uc003vjj.1 + 1 1529 c.564C>T c.(562-564)TAC>TAT p.Y188Y NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 188 Helical; Name=Segment S1; (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TGGTGTTCTACTATGTCACGG 0.582 31 63 --- --- --- --- PASS TRIM24 8805 broad.mit.edu 37 7 138252234 138252234 + Silent SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:138252234T>A uc003vuc.2 + 10 1754 c.1539T>A c.(1537-1539)CCT>CCA p.P513P TRIM24_uc003vub.2_Silent_p.P479P NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 513 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 AGCAACCGCCTCCACGTTTGA 0.343 35 152 --- --- --- --- PASS EN2 2020 broad.mit.edu 37 7 155255319 155255319 + Silent SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr7:155255319C>G uc003wmb.2 + 2 1188 c.939C>G c.(937-939)CTC>CTG p.L313L NM_001427 NP_001418 P19622 HME2_HUMAN engrailed homeobox 2 313 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGTGCACCTCATGGCACAGG 0.597 10 28 --- --- --- --- PASS USP17L2 377630 broad.mit.edu 37 8 11995293 11995293 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:11995293G>A uc003wvc.1 - 1 977 c.977C>T c.(976-978)GCT>GTT p.A326V FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 326 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 ACTCCACCCAGCGTGGACCAG 0.483 29 70 --- --- --- --- PASS ADAMDEC1 27299 broad.mit.edu 37 8 24259593 24259593 + Missense_Mutation SNP T G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:24259593T>G uc003xdz.2 + 12 1528 c.1308T>G c.(1306-1308)TGT>TGG p.C436W ADAMDEC1_uc010lub.2_Missense_Mutation_p.C357W|ADAMDEC1_uc011lab.1_Missense_Mutation_p.C357W NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 436 Disintegrin. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) ACTGTGATTGTGGCTCTCCTA 0.373 51 119 --- --- --- --- PASS PBK 55872 broad.mit.edu 37 8 27690580 27690580 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:27690580C>T uc003xgi.2 - 2 252 c.51G>A c.(49-51)AAG>AAA p.K17K PBK_uc011lap.1_Silent_p.K17K NM_018492 NP_060962 Q96KB5 TOPK_HUMAN PDZ binding kinase 17 mitosis ATP binding|protein binding|protein serine/threonine kinase activity 0 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) TACCAGATTTCTTTTTTTCTG 0.318 22 54 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30706340 30706340 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:30706340C>G uc003xil.2 - 1 194 c.194G>C c.(193-195)AGT>ACT p.S65T TEX15_uc011lbc.1_Missense_Mutation_p.S452T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 65 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCCTGCAGTACTACTCTGTTC 0.398 65 176 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35542230 35542230 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:35542230G>A uc003xjr.1 + 6 1210 c.882G>A c.(880-882)ATG>ATA p.M294I UNC5D_uc003xjs.1_Missense_Mutation_p.M289I|UNC5D_uc003xjt.1_Missense_Mutation_p.M63I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 294 TSP type-1 1.|Extracellular (Potential). 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) GTGAGGGAATGTCAGTGCAGA 0.498 53 152 --- --- --- --- PASS FAM150A 389658 broad.mit.edu 37 8 53452398 53452398 + Silent SNP C G G rs147680673 TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:53452398C>G uc003xrd.2 - 3 523 c.318G>C c.(316-318)ACG>ACC p.T106T FAM150A_uc011ldt.1_Silent_p.T106T NM_207413 NP_997296 Q6UXT8 F150A_HUMAN hypothetical protein LOC389658 precursor 106 extracellular region 0 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) TACAAGCTGGCGTTGAGCACT 0.388 22 55 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541754 55541754 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:55541754C>T uc003xsd.1 + 4 5460 c.5312C>T c.(5311-5313)TCA>TTA p.S1771L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1771 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACACCACATCAGTGGACACC 0.438 14 100 --- --- --- --- PASS NKAIN3 286183 broad.mit.edu 37 8 63659609 63659609 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:63659609C>A uc010lyq.1 + 4 524 c.392C>A c.(391-393)ACG>AAG p.T131K NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 131 integral to membrane|plasma membrane 0 Breast(64;0.127) Lung NSC(129;0.187) GACGATTACACGTACGTCTCT 0.498 29 51 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67578617 67578617 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:67578617C>T uc003xwn.2 - 1 836 c.577G>A c.(577-579)GAC>AAC p.D193N SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 193 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TCCAGAGTGTCATGCAAATAC 0.542 35 258 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72958829 72958829 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:72958829G>A uc003xza.2 - 17 2155 c.1980C>T c.(1978-1980)TTC>TTT p.F660F uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 660 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GAAGATATTTGAAATTATACT 0.299 50 124 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72964929 72964929 + Silent SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:72964929A>T uc003xza.2 - 14 1891 c.1716T>A c.(1714-1716)GCT>GCA p.A572A uc011lff.1_RNA|uc003xyy.2_RNA NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 572 Cytoplasmic (Potential).|ANK 14. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GGACTATGTCAGCATTGTGGC 0.473 57 170 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87680338 87680338 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:87680338G>A uc003ydx.2 - 5 598 c.552C>T c.(550-552)TAC>TAT p.Y184Y CNGB3_uc010maj.2_Silent_p.Y46Y NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 184 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 ACAGCCTGTAGTAATGTTCTG 0.368 85 170 --- --- --- --- PASS INTS8 55656 broad.mit.edu 37 8 95888702 95888702 + Silent SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:95888702T>C uc003yhb.2 + 26 2982 c.2856T>C c.(2854-2856)GAT>GAC p.D952D INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.D762D NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 952 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) GAGAAACAGATAAAAGACAAA 0.284 23 73 --- --- --- --- PASS DPYS 1807 broad.mit.edu 37 8 105405020 105405020 + Nonsense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:105405020G>A uc003yly.3 - 8 1564 c.1435C>T c.(1435-1437)CGA>TGA p.R479* DPYS_uc010mcf.1_Nonsense_Mutation_p.R49* NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 479 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACCCGGTCTCGCTGCTTTATT 0.478 99 281 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133153486 133153486 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:133153486G>A uc003ytj.2 - 10 1580 c.1355C>T c.(1354-1356)GCC>GTC p.A452V KCNQ3_uc010mdt.2_Missense_Mutation_p.A452V NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 452 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTCTTCTATGGCATCTACATT 0.458 63 182 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139163563 139163563 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr8:139163563G>T uc003yuy.2 - 13 3326 c.3155C>A c.(3154-3156)CCT>CAT p.P1052H FAM135B_uc003yux.2_Missense_Mutation_p.P953H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P614H|FAM135B_uc003yvb.2_Missense_Mutation_p.P614H NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1052 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGCCCTGGCAGGGGTCTCCTT 0.522 HNSCC(54;0.14) 40 72 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18777764 18777764 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:18777764G>T uc003zne.3 + 19 3664 c.3537G>T c.(3535-3537)TCG>TCT p.S1179S NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1179 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TCTCAGCCTCGGAGGTGGTCA 0.677 15 14 --- --- --- --- PASS KLHL9 55958 broad.mit.edu 37 9 21334855 21334855 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:21334855T>C uc003zoy.2 - 1 575 c.4A>G c.(4-6)AAA>GAA p.K2E KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 2 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) AGGGACACTTTCATGTGAAAG 0.468 51 62 --- --- --- --- PASS PAX5 5079 broad.mit.edu 37 9 37020777 37020777 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:37020777A>G uc003zzo.1 - 2 516 c.68T>C c.(67-69)CTT>CCT p.L23P PAX5_uc011lpw.1_Missense_Mutation_p.L23P|PAX5_uc011lpx.1_Missense_Mutation_p.L23P|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.L23P|PAX5_uc011lpz.1_Missense_Mutation_p.L23P|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.L23P|PAX5_uc010mlp.1_Missense_Mutation_p.L23P|PAX5_uc011lqc.1_Missense_Mutation_p.L23P|PAX5_uc010mlr.1_Missense_Mutation_p.L23P|PAX5_uc011lqd.1_Missense_Mutation_p.L22P|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 23 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(31) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) AACCCCCCCAAGCTGATTCAC 0.527 T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 59 62 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90503380 90503380 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:90503380C>A uc004app.3 + 4 4013 c.3978C>A c.(3976-3978)ATC>ATA p.I1326I NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1326 integral to membrane ovary(3) 3 TGGGACAAATCCTGGTGGACA 0.587 25 64 --- --- --- --- PASS MURC 347273 broad.mit.edu 37 9 103340507 103340507 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:103340507G>T uc004bba.2 + 1 172 c.82G>T c.(82-84)GAC>TAC p.D28Y NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 28 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) TGAAGACCAAGACGCTGCTCT 0.448 66 106 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113139637 113139637 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:113139637C>A uc010mtz.2 - 45 10755 c.10418G>T c.(10417-10419)CGA>CTA p.R3473L SVEP1_uc010mty.2_Missense_Mutation_p.R1399L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3473 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACATGGAAATCGACAGACAGC 0.478 45 63 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113228155 113228155 + Silent SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:113228155A>G uc010mtz.2 - 18 3649 c.3312T>C c.(3310-3312)TCT>TCC p.S1104S SVEP1_uc010mua.1_Silent_p.S1104S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1104 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CTCCACATGCAGAAATGTTCA 0.433 11 42 --- --- --- --- PASS CAMSAP1 157922 broad.mit.edu 37 9 138713130 138713130 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:138713130C>T uc004cgr.3 - 11 3377 c.3377G>A c.(3376-3378)AGT>AAT p.S1126N CAMSAP1_uc004cgq.3_Missense_Mutation_p.S1016N|CAMSAP1_uc010nbg.2_Missense_Mutation_p.S848N NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1126 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGTCTCTACACTGGGCGTTGG 0.657 50 93 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139397638 139397638 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr9:139397638C>A uc004chz.2 - 27 5163 c.5163G>T c.(5161-5163)GTG>GTT p.V1721V NOTCH1_uc004cia.1_Silent_p.V951V NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1721 Extracellular (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.V1722>ARWGSLNIPYLIEA(1)|p.A1721_V1722>YG(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACTTACTCTGCACGGCCTCGA 0.662 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 24 37 --- --- --- --- PASS FRMD4A 55691 broad.mit.edu 37 10 13838563 13838563 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr10:13838563C>A uc001ims.2 - 5 584 c.232G>T c.(232-234)GAT>TAT p.D78Y FRMD4A_uc009xjf.1_Missense_Mutation_p.D78Y|FRMD4A_uc001imt.1_Missense_Mutation_p.D111Y|FRMD4A_uc001imu.1_Missense_Mutation_p.D94Y NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 78 FERM. cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 ACTCTTCGATCTAGCTGAAGC 0.393 77 101 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18292244 18292244 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr10:18292244C>T uc001ipo.2 + 12 2177 c.1904C>T c.(1903-1905)ACA>ATA p.T635I SLC39A12_uc001ipn.2_Missense_Mutation_p.T598I|SLC39A12_uc001ipp.2_Missense_Mutation_p.T634I|SLC39A12_uc010qck.1_Missense_Mutation_p.T501I|uc001ipq.1_RNA NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 635 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TGGATCTTCACAGTCACTGCT 0.398 94 150 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27703181 27703181 + Translation_Start_Site SNP G C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr10:27703181G>C uc001itu.2 - 1 117 c.-1C>G c.(-3-1)ATCAA>ATGAA NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CCACGGCATTGATTCTTCCTC 0.637 30 47 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106849548 106849548 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr10:106849548G>T uc001kyi.1 + 6 1271 c.1044G>T c.(1042-1044)TTG>TTT p.L348F NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 348 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGCCGGATTGGATAAGGAGG 0.587 31 22 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118321063 118321063 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr10:118321063T>C uc001lcm.2 + 12 1292 c.1249T>C c.(1249-1251)TTT>CTT p.F417L NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 417 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GATGGTTAAATTTATTTGGTA 0.368 60 92 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121662509 121662509 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr10:121662509A>G uc001leu.1 + 3 967 c.895A>G c.(895-897)ATC>GTC p.I299V SEC23IP_uc010qtc.1_Missense_Mutation_p.I88V NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 299 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TCTTGAAGAAATCTATAATTC 0.358 32 37 --- --- --- --- PASS B4GALNT4 338707 broad.mit.edu 37 11 376311 376311 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:376311C>T uc001lpb.2 + 13 1266 c.1257C>T c.(1255-1257)GAC>GAT p.D419D NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 419 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATGAAGAAGACGAGGTGCAGC 0.647 4 74 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5289715 5289715 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:5289715G>A uc001mal.1 - 3 681 c.428C>T c.(427-429)GCC>GTC p.A143V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.A143V NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 143 A -> G (in Ref. 5; AA sequence). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTACTTATGGGCCAGGGCAAT 0.552 41 157 --- --- --- --- PASS OR52N5 390075 broad.mit.edu 37 11 5798965 5798965 + Silent SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:5798965A>T uc010qzn.1 - 1 900 c.900T>A c.(898-900)ATT>ATA p.I300I TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 300 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CTCCATAAACAATAGGGTTTA 0.423 84 165 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17544427 17544427 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:17544427C>T uc001mnf.2 - 12 1032 c.923G>A c.(922-924)CGG>CAG p.R308Q USH1C_uc001mne.2_Missense_Mutation_p.R308Q|USH1C_uc009yhb.2_Missense_Mutation_p.R289Q|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.R272Q NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 308 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CTCACGCTGCCGCGCCTCTGC 0.657 2 1 --- --- --- --- PASS E2F8 79733 broad.mit.edu 37 11 19247348 19247348 + Missense_Mutation SNP T C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:19247348T>C uc001mpm.2 - 11 2479 c.1957A>G c.(1957-1959)ATT>GTT p.I653V E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I653V NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 653 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CCAGACAAAATGGACTCTGCC 0.458 92 326 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26538428 26538428 + Missense_Mutation SNP A C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:26538428A>C uc001mqt.3 + 6 791 c.646A>C c.(646-648)ACG>CCG p.T216P ANO3_uc010rdr.1_Missense_Mutation_p.T200P|ANO3_uc010rds.1_Missense_Mutation_p.T70P|ANO3_uc010rdt.1_Missense_Mutation_p.T70P NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 216 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCCATGGGACACGCTGTGCAA 0.358 43 122 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33667414 33667414 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:33667414G>A uc001mup.3 + 16 4843 c.4719G>A c.(4717-4719)GCG>GCA p.A1573A NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1567 integral to membrane ovary(2) 2 TGGCATCCGCGGGCCACGCAG 0.677 21 32 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974139 49974139 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:49974139C>A uc010rhz.1 + 1 165 c.165C>A c.(163-165)TCC>TCA p.S55S NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CACTGAGATCCCCCATGTACT 0.423 201 368 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735597 55735597 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:55735597C>A uc010rit.1 - 1 343 c.343G>T c.(343-345)GTG>TTG p.V115L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 115 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CAAATAGCCACGTAGCGGTCA 0.418 40 78 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944287 55944287 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:55944287G>A uc010rjb.1 + 1 194 c.194G>A c.(193-195)TGT>TAT p.C65Y NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TTACTCAGCTGTCTTTCATTT 0.443 65 301 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944701 55944701 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:55944701C>A uc010rjb.1 + 1 608 c.608C>A c.(607-609)TCC>TAC p.S203Y NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) TTAACCTTCTCCGGAGTCATT 0.463 25 146 --- --- --- --- PASS LRTOMT 220074 broad.mit.edu 37 11 71806464 71806464 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:71806464C>T uc001orr.2 + 6 855 c.477C>T c.(475-477)TTC>TTT p.F159F LRTOMT_uc009ysz.2_RNA|LRTOMT_uc010rqt.1_3'UTR|LRTOMT_uc010rqu.1_Silent_p.F141F|LRTOMT_uc009yta.2_RNA|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron NM_145309 NP_660352 Q96E66 LRC51_HUMAN leucine rich transmembrane and 159 LRRCT. cytoplasm 0 TCACCACGTTCGACTTCAGTG 0.567 9 62 --- --- --- --- PASS CASP4 837 broad.mit.edu 37 11 104825645 104825645 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:104825645C>G uc001pid.1 - 2 164 c.91G>C c.(91-93)GAA>CAA p.E31Q CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.E31Q|CASP4_uc010ruy.1_Missense_Mutation_p.E31Q NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 31 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) ACATTTTGTTCCACCAAGTTA 0.398 26 202 --- --- --- --- PASS ACAT1 38 broad.mit.edu 37 11 108010931 108010931 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:108010931T>A uc001pjy.2 + 7 795 c.719T>A c.(718-720)GTT>GAT p.V240D ACAT1_uc001pjx.2_Missense_Mutation_p.V114D NM_000019 NP_000010 P24752 THIL_HUMAN acetyl-Coenzyme A acetyltransferase 1 precursor 240 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding ovary(3) 3 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) CCTGTCACAGTTACAGTAAAA 0.343 49 92 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119029409 119029409 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:119029409C>T uc001pvs.2 + 11 1646 c.1310C>T c.(1309-1311)GCC>GTC p.A437V ABCG4_uc009zar.2_Missense_Mutation_p.A437V NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 437 Helical; Name=2; (Potential).|ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CTCATGTTCGCCGCCCTCATG 0.627 54 92 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123814097 123814097 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr11:123814097A>G uc010sab.1 - 1 449 c.449T>C c.(448-450)CTA>CCA p.L150P NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAATCCAGCTAGCCAGGAGGC 0.562 14 38 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7649613 7649613 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:7649613C>G uc001qsz.3 - 5 1023 c.895G>C c.(895-897)GAT>CAT p.D299H CD163_uc001qta.3_Missense_Mutation_p.D299H|CD163_uc009zfw.2_Missense_Mutation_p.D299H NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 299 SRCR 3.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ACAGCAGCATCGTAACTGTCC 0.502 22 103 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21205156 21205156 + Silent SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:21205156A>G uc010sin.1 + 9 1317 c.1317A>G c.(1315-1317)CTA>CTG p.L439L SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.L486L NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 439 membrane transporter activity 0 CACCTTGTCTAGCAGGATGCA 0.363 26 183 --- --- --- --- PASS C12orf77 196415 broad.mit.edu 37 12 25147249 25147249 + Silent SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:25147249A>T uc001rgf.2 - 4 625 c.420T>A c.(418-420)GCT>GCA p.A140A NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 140 0 AAATTGTCATAGCATGATGTA 0.343 7 18 --- --- --- --- PASS MIP 4284 broad.mit.edu 37 12 56848169 56848169 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:56848169C>A uc001slh.2 - 1 261 c.229G>T c.(229-231)GTG>TTG p.V77L NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 77 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 TGGGAGCCCACAAGGAAAGCA 0.602 22 99 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400260 78400260 + Silent SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:78400260T>A uc001syp.2 + 8 1115 c.942T>A c.(940-942)ACT>ACA p.T314T NAV3_uc001syo.2_Silent_p.T314T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 314 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTCCCAGTACTGCTGGGCAGC 0.507 HNSCC(70;0.22) 16 76 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88502955 88502955 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:88502955G>T uc001tar.2 - 23 2715 c.2371C>A c.(2371-2373)CTA>ATA p.L791I CEP290_uc001tat.2_Missense_Mutation_p.L584I NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 791 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TTATTTTCTAGTTCCTGAAAA 0.249 3 14 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94613888 94613888 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:94613888C>A uc001tdc.2 + 6 1900 c.1651C>A c.(1651-1653)CAG>AAG p.Q551K NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 551 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GAATAAAAGTCAGCCCAACCG 0.448 89 178 --- --- --- --- PASS AMDHD1 144193 broad.mit.edu 37 12 96359501 96359501 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:96359501G>A uc001tel.1 + 7 1082 c.976G>A c.(976-978)GGA>AGA p.G326R AMDHD1_uc009zth.1_Missense_Mutation_p.G217R NM_152435 NP_689648 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 326 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1) 1 GTTAGATGAAGGAGTAATAGT 0.388 50 90 --- --- --- --- PASS NUP37 79023 broad.mit.edu 37 12 102471234 102471234 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:102471234C>A uc001tjc.2 - 6 653 c.588G>T c.(586-588)TTG>TTT p.L196F NUP37_uc009zub.1_Missense_Mutation_p.L196F NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 196 WD 3. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 CCTGTTGGGCCAAAAGATCAT 0.378 54 114 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112667515 112667515 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:112667515C>T uc009zwc.2 - 34 5258 c.5240G>A c.(5239-5241)GGA>GAA p.G1747E C12orf51_uc001ttr.1_5'Flank NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AACCTCGGATCCTATCTTGAT 0.453 55 271 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119563223 119563223 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:119563223C>A uc001txa.1 + 7 845 c.553C>A c.(553-555)CAT>AAT p.H185N NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 185 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CCGCCACCGCCATCACCGCTG 0.488 18 17 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120588997 120588997 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr12:120588997C>T uc001txo.2 - 34 4274 c.4261G>A c.(4261-4263)GCA>ACA p.A1421T NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1421 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAGTCAGTGCCGCCATCATC 0.612 4 78 --- --- --- --- PASS DIAPH3 81624 broad.mit.edu 37 13 60686259 60686259 + Missense_Mutation SNP T G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:60686259T>G uc001vht.2 - 3 494 c.275A>C c.(274-276)AAC>ACC p.N92T DIAPH3_uc001vhw.1_Missense_Mutation_p.N81T|DIAPH3_uc010aed.1_Missense_Mutation_p.N81T|DIAPH3_uc010aee.1_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 92 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AGTCTTCAGGTTGGGAAGTGG 0.433 137 285 --- --- --- --- PASS PIBF1 10464 broad.mit.edu 37 13 73357625 73357625 + Silent SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:73357625A>G uc001vjc.2 + 2 323 c.18A>G c.(16-18)TCA>TCG p.S6S PIBF1_uc001vja.1_Silent_p.S6S|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Silent_p.S6S|PIBF1_uc010aep.2_Intron|DIS3_uc001viy.3_5'Flank|DIS3_uc001vix.3_5'Flank|DIS3_uc001viz.2_5'Flank NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 6 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GAAAAATTTCAAAGGAGTCAA 0.284 36 95 --- --- --- --- PASS KLF12 11278 broad.mit.edu 37 13 74420351 74420351 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:74420351C>G uc001vjf.2 - 4 505 c.283G>C c.(283-285)GCC>CCC p.A95P KLF12_uc010aeq.2_Missense_Mutation_p.A95P|KLF12_uc001vjg.3_Missense_Mutation_p.A95P NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 95 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) GATGAAACGGCAGTAGGGGAC 0.512 19 113 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92380805 92380805 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:92380805G>T uc010tif.1 + 4 1406 c.1040G>T c.(1039-1041)CGC>CTC p.R347L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 347 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATTTGTGGCCGCCCTGTAAGA 0.418 33 155 --- --- --- --- PASS IPO5 3843 broad.mit.edu 37 13 98642449 98642449 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:98642449G>T uc001vnf.1 + 5 602 c.537G>T c.(535-537)CAG>CAT p.Q179H IPO5_uc001vne.2_Missense_Mutation_p.Q197H|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.Q119H NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 179 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 TGTTAGTTCAGTGTATGCAAG 0.308 24 71 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101997647 101997647 + Nonsense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:101997647C>A uc001vox.1 - 7 958 c.769G>T c.(769-771)GAG>TAG p.E257* NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Nonsense_Mutation_p.E257*|NALCN_uc001vpa.2_Nonsense_Mutation_p.E257* NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 257 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGCCCAGCTCTTGCCTGCTA 0.418 49 248 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101997649 101997649 + Missense_Mutation SNP T G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr13:101997649T>G uc001vox.1 - 7 956 c.767A>C c.(766-768)CAA>CCA p.Q256P NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Missense_Mutation_p.Q256P|NALCN_uc001vpa.2_Missense_Mutation_p.Q256P NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 256 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCCCAGCTCTTGCCTGCTAAG 0.428 49 247 --- --- --- --- PASS KIAA0586 9786 broad.mit.edu 37 14 59014620 59014620 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr14:59014620C>A uc001xdv.3 + 30 4662 c.4389C>A c.(4387-4389)GAC>GAA p.D1463E KIAA0586_uc010trr.1_Missense_Mutation_p.H1609N|KIAA0586_uc001xdt.3_Missense_Mutation_p.D1495E|KIAA0586_uc001xdu.3_Missense_Mutation_p.D1524E|KIAA0586_uc010trs.1_Missense_Mutation_p.D1454E NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 1463 ovary(1) 1 TGCAGGAGGACATGGAGTCTT 0.522 37 68 --- --- --- --- PASS SMOC1 64093 broad.mit.edu 37 14 70420249 70420249 + Missense_Mutation SNP G C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr14:70420249G>C uc001xls.1 + 3 631 c.378G>C c.(376-378)CAG>CAC p.Q126H SMOC1_uc001xlt.1_Missense_Mutation_p.Q126H NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 126 Thyroglobulin type-1 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CCTTTACCCAGGTGAGGCCTC 0.622 37 56 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088872 86088872 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr14:86088872G>T uc001xvr.2 + 2 1781 c.1014G>T c.(1012-1014)ATG>ATT p.M338I FLRT2_uc010atd.2_Missense_Mutation_p.M338I NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 338 Extracellular (Potential).|LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGGGTTTCATGTGCCAAGGTC 0.507 126 182 --- --- --- --- PASS CHGA 1113 broad.mit.edu 37 14 93397627 93397627 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr14:93397627A>G uc001ybc.3 + 6 648 c.388A>G c.(388-390)ATG>GTG p.M130V CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron NM_001275 NP_001266 P10645 CMGA_HUMAN chromogranin A precursor 130 regulation of blood pressure extracellular region|stored secretory granule skin(2) 2 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) CAAGGATGTTATGGAGAAAAG 0.612 17 16 --- --- --- --- PASS TCL6 27004 broad.mit.edu 37 14 96137674 96137674 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr14:96137674C>G uc001yeq.2 + 7 1870 c.401C>G c.(400-402)ACG>AGG p.T134R TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.T76R|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL6_uc010avk.1_RNA NM_020554 NP_065579 SubName: Full=T-cell leukemia/lymphoma 6 ORF163; 0 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) ctagaaaggacgtggatgaag 0.000 T TRA@ T-ALL 17 39 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102476340 102476340 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr14:102476340G>T uc001yks.2 + 30 6302 c.6138G>T c.(6136-6138)CGG>CGT p.R2046R NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2046 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AGCCCGACCGGCAGTTAATCG 0.522 51 80 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22368874 22368874 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:22368874A>T uc010tzu.1 + 1 299 c.299A>T c.(298-300)CAG>CTG p.Q100L LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGCATTGCACAGCTCTTCTTC 0.463 67 493 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41289779 41289779 + Missense_Mutation SNP A C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:41289779A>C uc001zni.2 - 29 3731 c.3518T>G c.(3517-3519)CTG>CGG p.L1173R INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1173 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TGTGCTTAACAGGAACACAAA 0.393 53 115 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41352108 41352108 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:41352108C>A uc001zni.2 - 15 2012 c.1799G>T c.(1798-1800)GGA>GTA p.G600V INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 600 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 ATGAGGATTTCCCCAATATGG 0.328 52 161 --- --- --- --- PASS PLA2G4D 283748 broad.mit.edu 37 15 42379860 42379860 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:42379860G>T uc001zox.2 - 2 179 c.84C>A c.(82-84)GTC>GTA p.V28V NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 28 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GCGCCTCCAGGACCCTCACTG 0.607 13 37 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43819245 43819245 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:43819245C>T uc001zrt.2 + 4 6041 c.5574C>T c.(5572-5574)TCC>TCT p.S1858S NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1858 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CACCCCTCTCCCCAGCTCCTG 0.627 26 19 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54860022 54860022 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:54860022G>T uc002ack.2 + 28 5983 c.5983G>T c.(5983-5985)GGC>TGC p.G1995C NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1995 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGAGGAAATGGCCTGAAAAA 0.353 9 29 --- --- --- --- PASS CSNK1G1 53944 broad.mit.edu 37 15 64551400 64551400 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:64551400C>A uc002anf.2 - 3 702 c.222G>T c.(220-222)CTG>CTT p.L74L CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Silent_p.L74L|CSNK1G1_uc002anh.1_Silent_p.L74L|CSNK1G1_uc002anj.2_Silent_p.L47L|CSNK1G1_uc010uip.1_RNA NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 74 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 TTCTACTCACCAGTTTGATTG 0.323 3 49 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68631962 68631962 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:68631962G>A uc002ari.2 - 11 1239 c.1152C>T c.(1150-1152)GCC>GCT p.A384A ITGA11_uc010bib.2_Silent_p.A384A NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 384 FG-GAP 3.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) AGGCACCGACGGCTCCCAGCA 0.597 21 95 --- --- --- --- PASS C15orf60 283677 broad.mit.edu 37 15 73843343 73843343 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:73843343G>A uc002avq.2 + 4 426 c.398G>A c.(397-399)TGC>TAC p.C133Y C15orf60_uc010bjb.2_Missense_Mutation_p.C105Y NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 133 pancreas(1) 1 CTGGAACACTGCTGCAGTTGT 0.507 25 72 --- --- --- --- PASS MAN2C1 4123 broad.mit.edu 37 15 75657002 75657002 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:75657002T>A uc002baf.2 - 5 444 c.427A>T c.(427-429)ACT>TCT p.T143S MAN2C1_uc002bag.2_Missense_Mutation_p.T143S|MAN2C1_uc002bah.2_Missense_Mutation_p.T143S|MAN2C1_uc010bkk.2_Missense_Mutation_p.T143S|MAN2C1_uc010umi.1_Intron|MAN2C1_uc010umj.1_RNA|MAN2C1_uc010umk.1_RNA NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 143 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 ACATAGAGAGTGAGGCTACAA 0.612 16 28 --- --- --- --- PASS KIAA1199 57214 broad.mit.edu 37 15 81181824 81181824 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:81181824C>T uc002bfw.1 + 9 1237 c.977C>T c.(976-978)ACG>ATG p.T326M KIAA1199_uc010unn.1_Missense_Mutation_p.T326M NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 326 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GTGGAGTGGACGGAGTGGTTC 0.483 32 94 --- --- --- --- PASS HAPLN3 145864 broad.mit.edu 37 15 89424922 89424922 + Silent SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr15:89424922T>A uc002bnc.2 - 3 287 c.159A>T c.(157-159)ACA>ACT p.T53T HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.T115T NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 53 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) TCTCCTCGGGTGTCTCCACCA 0.632 30 65 --- --- --- --- PASS WDR24 84219 broad.mit.edu 37 16 737632 737632 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr16:737632C>T uc002ciz.1 - 2 1349 c.589G>A c.(589-591)GAC>AAC p.D197N NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 270 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) TCGCACCGGTCGGGACGCCGG 0.632 17 35 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2819035 2819035 + Nonsense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr16:2819035C>T uc002crk.2 + 12 8320 c.7771C>T c.(7771-7773)CGA>TGA p.R2591* NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2591 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GGAGGCTGTTCGAGAGGGACG 0.532 13 65 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31283176 31283176 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr16:31283176G>T uc002ebq.2 + 7 665 c.567G>T c.(565-567)TTG>TTT p.L189F ITGAM_uc002ebr.2_Missense_Mutation_p.L189F NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 189 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 AGTTCTCTTTGATGCAGTACT 0.517 18 51 --- --- --- --- PASS CNGB1 1258 broad.mit.edu 37 16 57931765 57931765 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr16:57931765C>T uc002emt.2 - 30 3095 c.3030G>A c.(3028-3030)TTG>TTA p.L1010L CNGB1_uc010cdh.2_Silent_p.L1004L NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1010 Cytoplasmic (Potential).|cAMP (By similarity). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CAGGGCCGCCCAAGACCTGCA 0.552 26 211 --- --- --- --- PASS WFDC1 58189 broad.mit.edu 37 16 84353145 84353145 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr16:84353145G>A uc002fhw.2 + 4 707 c.530G>A c.(529-531)CGT>CAT p.R177H WFDC1_uc002fhv.2_Missense_Mutation_p.R177H NM_021197 NP_067020 Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 precursor 177 negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1) 1 ATCCCCAACCGTGGGCAGTGC 0.662 11 52 --- --- --- --- PASS CTU2 348180 broad.mit.edu 37 16 88779197 88779197 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr16:88779197G>T uc002flm.2 + 7 669 c.621G>T c.(619-621)CCG>CCT p.P207P CTU2_uc002fln.2_Silent_p.P207P|CTU2_uc010chz.2_Silent_p.P278P|CTU2_uc010cia.2_Silent_p.P120P NM_001012759 NP_001012777 Q2VPK5 CTU2_HUMAN cytoplasmic tRNA 2-thiolation protein 2 isoform 207 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding skin(1) 1 CCCAGCCCCCGCTGGACCCCC 0.667 7 10 --- --- --- --- PASS P2RX5 5026 broad.mit.edu 37 17 3595086 3595086 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:3595086C>A uc002fwi.2 - 2 424 c.140G>T c.(139-141)TGG>TTG p.W47L P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.W47L|P2RX5_uc010vrx.1_Missense_Mutation_p.W11L|P2RX5_uc002fwj.2_Missense_Mutation_p.W47L|P2RX5_uc002fwk.2_Missense_Mutation_p.W47L|P2RX5_uc002fwl.2_Missense_Mutation_p.W47L|P2RX5_uc002fwm.1_Missense_Mutation_p.W47L NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 47 Helical; Name=1; (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CAGGAACACCCATCTGTGGGA 0.592 45 120 --- --- --- --- PASS WSCD1 23302 broad.mit.edu 37 17 5993784 5993784 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:5993784C>T uc010cli.2 + 4 1065 c.686C>T c.(685-687)TCC>TTC p.S229F WSCD1_uc002gcn.2_Missense_Mutation_p.S229F|WSCD1_uc002gco.2_Missense_Mutation_p.S229F|WSCD1_uc010clj.2_5'UTR NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 229 WSC 1. integral to membrane sulfotransferase activity 0 GACCGGCTCTCCGTGTACCGT 0.657 26 41 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577138 7577138 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:7577138C>G uc002gim.2 - 8 994 c.800G>C c.(799-801)CGG>CCG p.R267P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 267 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) AAAGCTGTTCCGTCCCAGTAG 0.527 111 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) 15 31 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10315825 10315825 + Silent SNP C A A rs113680036 by1000genomes TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:10315825C>A uc002gmm.2 - 14 1373 c.1278G>T c.(1276-1278)GCG>GCT p.A426A uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 426 Myosin head-like. 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 GAGCACCCACCGCATTGTACA 0.493 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 147 381 --- --- --- --- PASS RASD1 51655 broad.mit.edu 37 17 17398864 17398864 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:17398864C>G uc002gri.2 - 2 633 c.421G>C c.(421-423)GTC>CTC p.V141L NM_016084 NP_057168 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 precursor 141 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity 0 CCGCAGATGACCAGGGGCACG 0.632 9 24 --- --- --- --- PASS ZNF830 91603 broad.mit.edu 37 17 33289390 33289390 + Nonsense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:33289390C>T uc002hih.3 + 1 842 c.805C>T c.(805-807)CAG>TAG p.Q269* CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank NM_052857 NP_443089 Q96NB3 ZN830_HUMAN coiled-coil domain containing 16 269 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1) 1 Ovarian(249;0.17) TCCAAAAGATCAGATGGACAA 0.493 38 87 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 50008401 50008401 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:50008401C>A uc002itw.3 - 3 1214 c.228G>T c.(226-228)ATG>ATT p.M76I CA10_uc002itv.3_Missense_Mutation_p.M82I|CA10_uc002itx.3_Missense_Mutation_p.M76I|CA10_uc002ity.3_Missense_Mutation_p.M76I|CA10_uc002itz.2_Missense_Mutation_p.M76I NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 76 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGTCGAAGATCATGTGACTGG 0.498 107 262 --- --- --- --- PASS EVPL 2125 broad.mit.edu 37 17 74007920 74007920 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:74007920G>A uc002jqi.2 - 20 2729 c.2501C>T c.(2500-2502)CCC>CTC p.P834L EVPL_uc010wss.1_Missense_Mutation_p.P856L|EVPL_uc010wst.1_Missense_Mutation_p.P304L NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 834 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TGCCAGGGTGGGCTCCAAAGA 0.642 17 42 --- --- --- --- PASS MXRA7 439921 broad.mit.edu 37 17 74681210 74681210 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:74681210C>T uc002jsk.1 - 3 472 c.444G>A c.(442-444)CTG>CTA p.L148L MXRA7_uc002jsl.2_Silent_p.L148L|MXRA7_uc002jsm.2_Silent_p.L148L NM_001008528 NP_001008528 P84157 MXRA7_HUMAN transmembrane anchor protein 1 isoform 1 148 integral to membrane 0 GGTTTCCCCTCAGCTTCCCGG 0.622 77 222 --- --- --- --- PASS SEC14L1 6397 broad.mit.edu 37 17 75139682 75139682 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:75139682G>T uc002jto.2 + 3 271 c.4G>T c.(4-6)GTG>TTG p.V2L SEC14L1_uc010dhc.2_Missense_Mutation_p.V2L|SEC14L1_uc010wth.1_Missense_Mutation_p.V2L|SEC14L1_uc002jtm.2_Missense_Mutation_p.V2L NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 2 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding ovary(2) 2 TGCAATCATGGTGCAGAAATA 0.363 32 89 --- --- --- --- PASS SLC38A10 124565 broad.mit.edu 37 17 79226320 79226320 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr17:79226320C>T uc002jzz.1 - 13 1995 c.1620G>A c.(1618-1620)CCG>CCA p.P540P SLC38A10_uc002jzy.1_Silent_p.P458P|SLC38A10_uc002kab.2_Silent_p.P540P NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 540 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGGGCAGAGGCGGCGCCATCT 0.622 27 118 --- --- --- --- PASS PIAS2 9063 broad.mit.edu 37 18 44470609 44470609 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr18:44470609C>T uc002lck.2 - 2 591 c.433G>A c.(433-435)GAT>AAT p.D145N PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Missense_Mutation_p.D145N|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.D145N|PIAS2_uc002lcn.1_Missense_Mutation_p.D149N NM_004671 NP_004662 O75928 PIAS2_HUMAN protein inhibitor of activated STAT X isoform 145 PINIT. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding ovary(2)|breast(1)|skin(1) 4 AACTGCACATCAGGATGGACA 0.443 17 61 --- --- --- --- PASS C18orf54 162681 broad.mit.edu 37 18 51904607 51904607 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr18:51904607G>A uc002lfn.3 + 8 1226 c.1110G>A c.(1108-1110)CCG>CCA p.P370P C18orf54_uc002lfo.3_Silent_p.P531P NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 370 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) AACGGTCACCGAAAATGTGAA 0.353 16 65 --- --- --- --- PASS ONECUT2 9480 broad.mit.edu 37 18 55143879 55143879 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr18:55143879G>A uc002lgo.2 + 2 1471 c.1439G>A c.(1438-1440)CGC>CAC p.R480H NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 480 Homeobox. organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GCCCGGCGCCGCAGCCTGGAG 0.582 18 40 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64197141 64197141 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr18:64197141C>T uc002lkc.1 - 9 1537 c.1399G>A c.(1399-1401)GCT>ACT p.A467T CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A467T NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 467 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) AACTCAGGAGCATGATCATTG 0.308 39 194 --- --- --- --- PASS SBNO2 22904 broad.mit.edu 37 19 1111044 1111044 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:1111044C>T uc002lrk.3 - 25 3096 c.2858G>A c.(2857-2859)CGG>CAG p.R953Q SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Missense_Mutation_p.R896Q|SBNO2_uc010dse.2_Missense_Mutation_p.R936Q|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 953 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCCATTCCGGGACTCCCG 0.662 4 8 --- --- --- --- PASS CSNK1G2 1455 broad.mit.edu 37 19 1978856 1978856 + Splice_Site SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:1978856A>T uc002lul.3 + 7 971 c.448_splice c.e7-2 p.I150_splice CSNK1G2_uc010dsu.2_Splice_Site_p.I102_splice NM_001319 NP_001310 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity stomach(1) 1 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCCCCTGCAGATCACGCGC 0.423 19 36 --- --- --- --- PASS KDM4B 23030 broad.mit.edu 37 19 5131486 5131486 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:5131486G>T uc002mbq.3 + 12 1941 c.1715G>T c.(1714-1716)GGG>GTG p.G572V KDM4B_uc010xim.1_Missense_Mutation_p.G606V|KDM4B_uc002mbr.3_Missense_Mutation_p.G330V NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 572 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 GAGCTGACGGGGCCAGAGGAC 0.512 24 34 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9048195 9048195 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:9048195G>T uc002mkp.2 - 5 33640 c.33436C>A c.(33436-33438)CCT>ACT p.P11146T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11148 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTACCTCAGGTGAAACAGTT 0.458 22 73 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9066587 9066587 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:9066587C>A uc002mkp.2 - 3 21063 c.20859G>T c.(20857-20859)CTG>CTT p.L6953L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6955 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGTCTCTCTCAGTCCAGGAG 0.458 102 239 --- --- --- --- PASS CASP14 23581 broad.mit.edu 37 19 15166251 15166251 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:15166251C>A uc010dzv.1 + 6 839 c.531C>A c.(529-531)GCC>GCA p.A177A CASP14_uc002naf.2_Silent_p.A177A NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 177 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 GATACATCGCCTACCGACATG 0.532 38 93 --- --- --- --- PASS ZNF98 148198 broad.mit.edu 37 19 22586297 22586297 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:22586297C>A uc002nqt.2 - 2 170 c.48G>T c.(46-48)AGG>AGT p.R16S NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGGCCACATCCCTAAATGTCA 0.393 47 123 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544756 23544756 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:23544756C>A uc002nre.2 - 4 1138 c.1025G>T c.(1024-1026)AGA>ATA p.R342I ZNF91_uc010xrj.1_Missense_Mutation_p.R310I NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 342 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGTATGAATTCTCTTATGTTT 0.373 8 229 --- --- --- --- PASS HPN 3249 broad.mit.edu 37 19 35556848 35556848 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:35556848G>T uc002nxq.1 + 13 1372 c.1127G>T c.(1126-1128)AGT>ATT p.S376I HPN_uc002nxr.1_Missense_Mutation_p.S376I|HPN_uc002nxs.1_Missense_Mutation_p.S218I|HPN_uc010xsh.1_Missense_Mutation_p.S345I|HPN_uc002nxt.1_Missense_Mutation_p.S260I|LOC100128675_uc010xsi.1_Intron NM_002151 NP_002142 P05981 HEPS_HUMAN hepsin 376 Extracellular (Potential).|Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GGCATTGTGAGTTGGGGCACT 0.612 57 160 --- --- --- --- PASS ACTN4 81 broad.mit.edu 37 19 39214345 39214345 + Missense_Mutation SNP C G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:39214345C>G uc002oja.1 + 13 1593 c.1534C>G c.(1534-1536)CGC>GGC p.R512G ACTN4_uc002ojb.1_5'Flank NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 512 Spectrin 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GACACATAGTCGCAGGGAAGC 0.632 9 27 --- --- --- --- PASS MIA 8190 broad.mit.edu 37 19 41281516 41281516 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:41281516G>T uc002opb.3 + 1 217 c.69G>T c.(67-69)AGG>AGT p.R23S MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank NM_006533 NP_006524 Q16674 MIA_HUMAN melanoma inhibitory activity precursor 23 cell proliferation extracellular space growth factor activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GBM - Glioblastoma multiforme(1328;0.0199) CTGGTGTCAGGGGTGGTCCTA 0.617 78 147 --- --- --- --- PASS CEACAM21 90273 broad.mit.edu 37 19 42082643 42082643 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:42082643C>T uc002ore.3 + 1 113 c.17C>T c.(16-18)GCT>GTT p.A6V CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.A6V NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 6 integral to membrane ovary(1) 1 CCCCCCTCAGCTTGTCCCCAC 0.627 7 45 --- --- --- --- PASS ERF 2077 broad.mit.edu 37 19 42752782 42752782 + Silent SNP G A A rs138540323 TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:42752782G>A uc002ote.3 - 4 1640 c.1482C>T c.(1480-1482)CTC>CTT p.L494L ERF_uc002otd.3_Silent_p.L225L NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 494 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CACCCCCTTCGAGGCGACAGT 0.692 38 95 --- --- --- --- PASS ZC3H4 23211 broad.mit.edu 37 19 47570607 47570607 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:47570607A>T uc002pga.3 - 15 2956 c.2918T>A c.(2917-2919)TTC>TAC p.F973Y ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 973 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGTGCGGGCGAAGCTGGGCTT 0.682 59 189 --- --- --- --- PASS CEACAM18 729767 broad.mit.edu 37 19 51986552 51986552 + Missense_Mutation SNP T G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:51986552T>G uc002pwv.1 + 5 1138 c.1138T>G c.(1138-1140)TGC>GGC p.C380G NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 380 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCCCCATGAGTGCAGCAGCTC 0.612 18 46 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52618417 52618417 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:52618417C>A uc002pym.2 - 4 2283 c.2000G>T c.(1999-2001)GGC>GTC p.G667V ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 667 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AAAGGTTTTGCCACACTCATT 0.403 75 310 --- --- --- --- PASS LENG9 94059 broad.mit.edu 37 19 54973315 54973315 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:54973315C>T uc010yez.1 - 1 1580 c.1461G>A c.(1459-1461)AGG>AGA p.R487R NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 487 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GCCCCCCTGTCCTCCCTATAC 0.627 48 105 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56490903 56490903 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:56490903G>A uc002qmh.2 + 9 3091 c.3020G>A c.(3019-3021)AGC>AAC p.S1007N NLRP8_uc010etg.2_Missense_Mutation_p.S988N NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 1007 LRR 6. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCCTTCTCAAGCCAAAAGAAG 0.468 64 147 --- --- --- --- PASS ZNF582 147948 broad.mit.edu 37 19 56895310 56895310 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:56895310G>A uc002qmz.1 - 5 1635 c.1476C>T c.(1474-1476)TAC>TAT p.Y492Y ZNF582_uc002qmy.2_Silent_p.Y523Y NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TTAGTAAGGGGTAACTGCTGA 0.388 112 279 --- --- --- --- PASS ZNF17 7565 broad.mit.edu 37 19 57932022 57932022 + Missense_Mutation SNP T A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:57932022T>A uc002qoo.1 + 3 1393 c.1162T>A c.(1162-1164)TGC>AGC p.C388S ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.C390S NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 388 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) ACCTTATGAATGCAACGAATG 0.393 62 173 --- --- --- --- PASS ZNF8 7554 broad.mit.edu 37 19 58806661 58806661 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr19:58806661A>T uc002qry.1 + 4 1617 c.1487A>T c.(1486-1488)CAT>CTT p.H496L ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) GAGCAGCCCCATGGGCGAAGC 0.552 95 291 --- --- --- --- PASS DEFB127 140850 broad.mit.edu 37 20 139602 139602 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:139602G>T uc002wcy.1 + 2 237 c.237G>T c.(235-237)CTG>CTT p.L79L NM_139074 NP_620713 Q9H1M4 DB127_HUMAN defensin, beta 127 preproprotein 79 defense response to bacterium|innate immune response extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CACTTGCACTGACTCTTCAAG 0.373 37 95 --- --- --- --- PASS C20orf46 55321 broad.mit.edu 37 20 1161519 1161519 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:1161519C>A uc010gaa.1 - 3 963 c.744G>T c.(742-744)GAG>GAT p.E248D C20orf46_uc002weq.1_Missense_Mutation_p.E248D NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 248 integral to membrane protein binding ovary(1) 1 TGTGGCTAGTCTCTGAGACCT 0.582 32 45 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2375159 2375159 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:2375159G>A uc002wfy.1 + 2 130 c.69G>A c.(67-69)CAG>CAA p.Q23Q TGM6_uc010gal.1_Silent_p.Q23Q NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 23 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) ACCACACCCAGGAGTACCCCT 0.642 10 44 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31022550 31022550 + Nonsense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:31022550G>T uc002wxs.2 + 12 2461 c.2035G>T c.(2035-2037)GGA>TGA p.G679* ASXL1_uc010geb.2_Nonsense_Mutation_p.G570* NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 679 Gly-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TGAGCCCAGGGGAGGCCCGAG 0.647 F|N|Mis MDS|CMML 6 23 --- --- --- --- PASS DLGAP4 22839 broad.mit.edu 37 20 35154325 35154325 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:35154325C>T uc002xff.2 + 12 3102 c.2667C>T c.(2665-2667)ATC>ATT p.I889I DLGAP4_uc010zvp.1_Silent_p.I889I|DLGAP4_uc002xfg.2_Silent_p.I185I|DLGAP4_uc002xfh.2_Silent_p.I353I|DLGAP4_uc002xfi.2_Silent_p.I198I|DLGAP4_uc002xfj.2_Silent_p.I185I|uc002xfk.3_Intron NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 892 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGCTGTCCATCGAGGATATCA 0.602 48 142 --- --- --- --- PASS SGK2 10110 broad.mit.edu 37 20 42195738 42195738 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:42195738G>T uc002xkv.2 + 2 466 c.247G>T c.(247-249)GGG>TGG p.G83W SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.G23W|SGK2_uc010ggm.2_Missense_Mutation_p.G23W|SGK2_uc002xks.2_Missense_Mutation_p.G23W|SGK2_uc002xku.2_Missense_Mutation_p.G23W|SGK2_uc002xkq.1_Missense_Mutation_p.G23W NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 83 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CATCAACCTGGGGCCTTCAGC 0.532 28 79 --- --- --- --- PASS KCNK15 60598 broad.mit.edu 37 20 43378866 43378866 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:43378866G>T uc002xmr.2 + 2 444 c.380G>T c.(379-381)AGC>ATC p.S127I NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 127 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) ACTTTCCAGAGCCTGGGCGAA 0.672 4 25 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47266696 47266696 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:47266696G>A uc002xtw.1 - 24 2889 c.2866C>T c.(2866-2868)CCC>TCC p.P956S PREX1_uc002xtv.1_Missense_Mutation_p.P253S NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 956 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGCTCCAGGGGGGCTTGTTTG 0.592 57 159 --- --- --- --- PASS CTSZ 1522 broad.mit.edu 37 20 57581398 57581398 + Missense_Mutation SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:57581398C>T uc002yai.2 - 2 412 c.286G>A c.(286-288)GCC>ACC p.A96T CTSZ_uc002yaj.3_Missense_Mutation_p.A96T NM_001336 NP_001327 Q9UBR2 CATZ_HUMAN cathepsin Z preproprotein 96 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity kidney(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) CTGGTGCTGGCGTGGGCCCAG 0.647 6 16 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62076601 62076601 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr20:62076601G>A uc002yey.1 - 3 681 c.504C>T c.(502-504)TTC>TTT p.F168F KCNQ2_uc002yez.1_Silent_p.F168F|KCNQ2_uc002yfa.1_Silent_p.F168F|KCNQ2_uc002yfb.1_Silent_p.F168F|KCNQ2_uc011aax.1_Silent_p.F168F|KCNQ2_uc002yfc.1_Silent_p.F168F NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 168 Helical; Name=Segment S3; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CAATCACACAGAACGGTTTCC 0.657 27 45 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22746235 22746235 + Missense_Mutation SNP A T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr21:22746235A>T uc002yld.1 + 9 1346 c.1097A>T c.(1096-1098)CAT>CTT p.H366L NCAM2_uc011acb.1_Missense_Mutation_p.H224L|NCAM2_uc011acc.1_Missense_Mutation_p.H391L NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 366 Ig-like C2-type 4.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCATCACTGCATATTAAAGAT 0.428 59 145 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22804459 22804459 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr21:22804459C>A uc002yld.1 + 12 1761 c.1512C>A c.(1510-1512)ATC>ATA p.I504I NCAM2_uc011acb.1_Silent_p.I362I NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 504 Fibronectin type-III 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GAGTGAAGATCATAGAGCTGT 0.448 39 98 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22910194 22910194 + Silent SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr21:22910194G>A uc002yld.1 + 18 2679 c.2430G>A c.(2428-2430)GGG>GGA p.G810G NCAM2_uc011acb.1_Silent_p.G668G NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 810 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAGAAGATGGGAAAGAAGCTC 0.323 7 141 --- --- --- --- PASS PRDM15 63977 broad.mit.edu 37 21 43248563 43248563 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr21:43248563C>A uc002yzq.1 - 19 2702 c.2591G>T c.(2590-2592)CGC>CTC p.R864L PRDM15_uc002yzo.2_Missense_Mutation_p.R535L|PRDM15_uc002yzp.2_Missense_Mutation_p.R555L|PRDM15_uc002yzr.1_Missense_Mutation_p.R555L NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 864 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACGTCCTTGCGGTAGAACAT 0.612 115 255 --- --- --- --- PASS KRTAP10-10 353333 broad.mit.edu 37 21 46057812 46057812 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr21:46057812G>T uc002zfq.2 + 1 540 c.478G>T c.(478-480)GTG>TTG p.V160L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 160 15 X 5 AA repeats of C-C-X(3). keratin filament 0 CTATGTGCCTGTGTGCTCTGG 0.627 111 291 --- --- --- --- PASS COL18A1 80781 broad.mit.edu 37 21 46932158 46932158 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr21:46932158G>A uc011afs.1 + 42 5123 c.5102G>A c.(5101-5103)AGC>AAC p.S1701N COL18A1_uc002zhg.2_Missense_Mutation_p.S1286N|COL18A1_uc002zhi.2_Missense_Mutation_p.S1466N|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.S267N|COL18A1_uc002zhk.2_Missense_Mutation_p.S111N NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1704 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTGACCGAGAGCTACTGTGAG 0.701 7 5 --- --- --- --- PASS GSC2 2928 broad.mit.edu 37 22 19136551 19136551 + Missense_Mutation SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr22:19136551C>A uc011ags.1 - 3 571 c.571G>T c.(571-573)GCG>TCG p.A191S NM_005315 NP_005306 O15499 GSC2_HUMAN goosecoid homeobox 2 191 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(54;0.0993) AGGAGCCTCGCGGAAGCCGAC 0.652 3 11 --- --- --- --- PASS GNB1L 54584 broad.mit.edu 37 22 19799846 19799846 + Missense_Mutation SNP G A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr22:19799846G>A uc002zqe.1 - 4 773 c.379C>T c.(379-381)CGC>TGC p.R127C GNB1L_uc002zqd.1_Translation_Start_Site|GNB1L_uc002zqf.1_Missense_Mutation_p.R127C NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 127 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) AGCGTCCAGCGTGGCTGGCCC 0.662 3 30 --- --- --- --- PASS HIC2 23119 broad.mit.edu 37 22 21800819 21800819 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr22:21800819C>T uc002zur.3 + 3 1865 c.1635C>T c.(1633-1635)CGC>CGT p.R545R HIC2_uc002zus.3_Silent_p.R545R NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 545 C2H2-type 3. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TCACGCAGCGCGGCACCATGA 0.637 11 61 --- --- --- --- PASS TUBGCP6 85378 broad.mit.edu 37 22 50665440 50665440 + Silent SNP G A A rs145215576 TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr22:50665440G>A uc003bkb.1 - 6 1991 c.1479C>T c.(1477-1479)GCC>GCT p.A493A TUBGCP6_uc010har.1_Silent_p.A493A|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 493 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGGGAAACGCGGCCCTGGGGC 0.687 5 9 --- --- --- --- PASS GYG2 8908 broad.mit.edu 37 X 2773036 2773036 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:2773036G>T uc004cqs.1 + 6 702 c.420G>T c.(418-420)GTG>GTT p.V140V GYG2_uc004cqt.1_Silent_p.V109V|GYG2_uc004cqu.1_Silent_p.V109V|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Silent_p.V100V|GYG2_uc004cqx.1_Silent_p.V109V|GYG2_uc010ndc.1_5'UTR NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 140 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCACCAGGTGCTGTCCAATG 0.438 39 19 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29959823 29959823 + Silent SNP T G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:29959823T>G uc004dby.2 + 9 1621 c.1113T>G c.(1111-1113)CTT>CTG p.L371L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 371 Helical; (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TCTTGCTGCTTGTATGTTTGG 0.413 128 129 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92927259 92927259 + Missense_Mutation SNP T G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:92927259T>G uc004efq.2 - 1 1350 c.1045A>C c.(1045-1047)AAA>CAA p.K349Q FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 349 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 TGGCCAGGTTTTGAGAACTTC 0.403 38 38 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120181718 120181718 + Silent SNP C A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:120181718C>A uc004eto.2 + 1 257 c.180C>A c.(178-180)CGC>CGA p.R60R NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 60 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TGGCCGACCGCGAGGACGACC 0.692 23 19 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125298951 125298951 + Silent SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:125298951G>T uc004euk.1 - 1 984 c.957C>A c.(955-957)TCC>TCA p.S319S NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 319 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CAGCGTACAGGGACAACTCAT 0.622 47 59 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125298952 125298952 + Missense_Mutation SNP G T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:125298952G>T uc004euk.1 - 1 983 c.956C>A c.(955-957)TCC>TAC p.S319Y NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 319 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 AGCGTACAGGGACAACTCATC 0.617 46 61 --- --- --- --- PASS CTAG2 30848 broad.mit.edu 37 X 153880852 153880852 + Missense_Mutation SNP A C C TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:153880852A>C uc004fmi.1 - 2 376 c.323T>G c.(322-324)ATC>AGC p.I108S CTAG2_uc004fmh.1_Missense_Mutation_p.I108S NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 108 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGGGACAGGATCCTGCGGAC 0.617 14 20 --- --- --- --- PASS CTAG2 30848 broad.mit.edu 37 X 153880861 153880861 + Missense_Mutation SNP A G G TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:153880861A>G uc004fmi.1 - 2 367 c.314T>C c.(313-315)GTC>GCC p.V105A CTAG2_uc004fmh.1_Missense_Mutation_p.V105A NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 105 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATCCTGCGGACCAGCTCCGC 0.612 8 21 --- --- --- --- PASS CTAG2 30848 broad.mit.edu 37 X 153880869 153880869 + Silent SNP C T T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:153880869C>T uc004fmi.1 - 2 359 c.306G>A c.(304-306)GCG>GCA p.A102A CTAG2_uc004fmh.1_Silent_p.A102A NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 102 centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGACCAGCTCCGCTTCCATGG 0.612 10 16 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25470586 25470587 + Frame_Shift_Ins INS - A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chr2:25470586_25470587insA uc002rgc.2 - 8 1144_1145 c.887_888insT c.(886-888)GTGfs p.V296fs DNMT3A_uc002rgd.2_Frame_Shift_Ins_p.V296fs|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Frame_Shift_Ins_p.V107fs NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 296 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTCCCCCACACCAGCTCCCC 0.649 Mis|F|N|S AML 77 34 --- --- --- --- DMD 1756 broad.mit.edu 37 X 32456493 32456494 + Frame_Shift_Ins INS - A A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx e417903d-ab76-44f0-aae9-3a91fa9a8d3c 3755168b-f5da-422d-847a-566cb112a8d7 g.chrX:32456493_32456494insA uc004dda.1 - 29 4179_4180 c.3935_3936insT c.(3934-3936)TTGfs p.L1312fs DMD_uc004dcz.2_Frame_Shift_Ins_p.L1189fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.L1308fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.L1304fs|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1312 Spectrin 9. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AATGTCGCATCAAATTTTCAAG 0.361 46 69 --- --- --- ---