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 PIK3CD 5293 broad.mit.edu 37 1 9775958 9775958 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:9775958C>T uc001aqb.3 + 5 630 c.422C>T c.(421-423)GCC>GTC p.A141V PIK3CD_uc010oaf.1_Missense_Mutation_p.A141V|PIK3CD_uc001aqe.3_Missense_Mutation_p.A141V NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 141 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GACTTTCGCGCCAAGATGTGC 0.687 5 27 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12416115 12416115 + Missense_Mutation SNP T G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:12416115T>G uc001atv.2 + 48 9980 c.9839T>G c.(9838-9840)ATT>AGT p.I3280S VPS13D_uc001atw.2_Missense_Mutation_p.I3255S|VPS13D_uc001atx.2_Missense_Mutation_p.I2467S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3279 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAGATCTTCATTTCTGCTCCA 0.448 22 69 --- --- --- --- PASS FAM151A 338094 broad.mit.edu 37 1 55089020 55089020 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:55089020C>G uc001cxn.2 - 1 181 c.49G>C c.(49-51)GCC>CCC p.A17P ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 17 Helical; (Potential). integral to membrane 0 GTAATGCCGGCAAACACCCAC 0.597 16 163 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62593720 62593720 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:62593720C>G uc001dab.2 + 40 5234 c.5120C>G c.(5119-5121)GCC>GGC p.A1707G INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.A491G NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1707 PDZ 10. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GTATTTATTGCCATGATTCAG 0.458 11 74 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 63044554 63044554 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:63044554T>C uc001daq.2 - 17 1989 c.1955A>G c.(1954-1956)CAT>CGT p.H652R DOCK7_uc001dan.2_Missense_Mutation_p.H544R|DOCK7_uc001dao.2_Missense_Mutation_p.H544R|DOCK7_uc001dap.2_Missense_Mutation_p.H652R NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 652 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 ACAACTAACATGATAAAAAGT 0.313 25 109 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70573448 70573448 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:70573448C>G uc001dep.2 + 24 4475 c.4445C>G c.(4444-4446)ACT>AGT p.T1482S LRRC7_uc009wbg.2_Missense_Mutation_p.T766S|LRRC7_uc001deq.2_Missense_Mutation_p.T676S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1482 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ATCTTTGTTACTAGGGTTCAG 0.408 23 152 --- --- --- --- PASS FPGT 8790 broad.mit.edu 37 1 74670968 74670968 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:74670968G>T uc001dgb.1 + 4 1274 c.1237G>T c.(1237-1239)GTG>TTG p.V413L TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.V38L|FPGT_uc010oqu.1_Missense_Mutation_p.V159L|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 413 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 AAGATGTTCTGTGGCACCTGG 0.423 22 124 --- --- --- --- PASS ARHGAP29 9411 broad.mit.edu 37 1 94654471 94654471 + Missense_Mutation SNP A C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:94654471A>C uc001dqj.3 - 15 1972 c.1603T>G c.(1603-1605)TTT>GTT p.F535V ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.F101V NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 535 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AACATCCCAAATGTCCATGAT 0.358 19 107 --- --- --- --- PASS FAM19A3 284467 broad.mit.edu 37 1 113264887 113264887 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:113264887C>T uc001ecv.2 + 2 101 c.32C>T c.(31-33)ACG>ATG p.T11M FAM19A3_uc001ecu.2_Missense_Mutation_p.T11M|FAM19A3_uc010owk.1_RNA|FAM19A3_uc010owl.1_RNA NM_182759 NP_877436 Q7Z5A8 F19A3_HUMAN family with sequence similarity 19 (chemokine 11 extracellular region 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTGGAGCACGGGCGGCTGG 0.642 27 141 --- --- --- --- PASS AMPD1 270 broad.mit.edu 37 1 115222975 115222975 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:115222975G>T uc001efe.1 - 6 756 c.672C>A c.(670-672)GTC>GTA p.V224V AMPD1_uc001eff.1_Silent_p.V220V NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 224 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CATCTTTGCTGACTGCTGCTT 0.443 21 139 --- --- --- --- PASS WDR3 10885 broad.mit.edu 37 1 118497236 118497236 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:118497236T>A uc010oxe.1 + 23 2461 c.2395T>A c.(2395-2397)TAT>AAT p.Y799N WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 799 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CCTAATGGCTTATGGCAGTAT 0.358 23 118 --- --- --- --- PASS PRDX6 9588 broad.mit.edu 37 1 173455423 173455423 + Silent SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:173455423G>C uc001giy.1 + 4 480 c.429G>C c.(427-429)CTG>CTC p.L143L NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 143 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 ATAAGAAGCTGAAGCTGTCTA 0.448 41 258 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179604969 179604969 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:179604969G>T uc001gnf.1 + 9 1717 c.1467G>T c.(1465-1467)CGG>CGT p.R489R TDRD5_uc010pnp.1_Silent_p.R489R|TDRD5_uc001gnh.1_Silent_p.R44R NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 489 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 TCTACATCCGGATCTATAGCA 0.413 12 102 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183495814 183495814 + Silent SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:183495814A>G uc001gqg.2 + 5 518 c.396A>G c.(394-396)AAA>AAG p.K132K SMG7_uc010pob.1_Silent_p.K161K|SMG7_uc001gqf.2_Silent_p.K132K|SMG7_uc001gqh.2_Silent_p.K132K|SMG7_uc001gqi.2_Silent_p.K90K|SMG7_uc010poc.1_Silent_p.K90K NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 132 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCAGCAATAAACAGACGCATA 0.433 29 231 --- --- --- --- PASS LMOD1 25802 broad.mit.edu 37 1 201868784 201868784 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:201868784G>A uc001gxb.2 - 2 1605 c.1357C>T c.(1357-1359)CAT>TAT p.H453Y LMOD1_uc010ppu.1_Missense_Mutation_p.H402Y NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 453 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 AGCTCAAAATGGTAGCCCAGC 0.572 6 26 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848335 215848335 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:215848335G>T uc001hku.1 - 63 13305 c.12918C>A c.(12916-12918)CTC>CTA p.L4306L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4306 Fibronectin type-III 28.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAAAAGGATAGAGCATTTCAT 0.398 HNSCC(13;0.011) 16 107 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848336 215848336 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:215848336A>T uc001hku.1 - 63 13304 c.12917T>A c.(12916-12918)CTC>CAC p.L4306H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4306 Fibronectin type-III 28.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAAGGATAGAGCATTTCATT 0.393 HNSCC(13;0.011) 16 108 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947904 237947904 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:237947904G>A uc001hyl.1 + 90 13012 c.12892G>A c.(12892-12894)GTG>ATG p.V4298M RYR2_uc010pya.1_Missense_Mutation_p.V713M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4298 Helical; Name=M4; (Potential). 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) CTTGCACTTCGTGGCCAGCGT 0.463 13 51 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614352 247614352 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:247614352C>T uc010pyx.1 - 1 933 c.933G>A c.(931-933)AGG>AGA p.R311R NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCCTCCAGATCCTGGCCAGAA 0.453 47 294 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875519 247875519 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr1:247875519T>A uc001idj.1 - 1 539 c.539A>T c.(538-540)GAC>GTC p.D180V NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGGTGCAATGTCACAGAAGAA 0.567 18 94 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1691427 1691427 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:1691427C>G uc002qxa.2 - 4 457 c.393G>C c.(391-393)AAG>AAC p.K131N PXDN_uc002qxb.1_Missense_Mutation_p.K131N|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 131 LRR 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGCAAGTCCCTTAAATGCTT 0.468 4 30 --- --- --- --- PASS ROCK2 9475 broad.mit.edu 37 2 11342232 11342232 + Silent SNP T G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:11342232T>G uc002rbd.1 - 21 3014 c.2565A>C c.(2563-2565)GCA>GCC p.A855A NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 855 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTTGCCCATCTGCATCCTGAC 0.313 19 178 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915374 48915374 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:48915374G>T uc002rwu.3 - 11 1632 c.1562C>A c.(1561-1563)ACC>AAC p.T521N GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 521 Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGAGAGAGTGGTTTCCACATC 0.403 Familial_Male-Limited_Precocious_Puberty 13 102 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746099 77746099 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:77746099G>A uc002snr.2 - 3 1311 c.896C>T c.(895-897)GCG>GTG p.A299V LRRTM4_uc002snq.2_Missense_Mutation_p.A299V|LRRTM4_uc002sns.2_Missense_Mutation_p.A299V|LRRTM4_uc002snt.2_Missense_Mutation_p.A300V NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 299 LRR 10.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGATATCCACGCATTGACAGT 0.373 7 37 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79312367 79312367 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:79312367G>T uc002sny.2 - 6 588 c.476C>A c.(475-477)TCC>TAC p.S159Y NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 159 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 GCAAACAAAGGAGAACTTCTT 0.388 7 60 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79312368 79312368 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:79312368A>T uc002sny.2 - 6 587 c.475T>A c.(475-477)TCC>ACC p.S159T NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 159 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 CAAACAAAGGAGAACTTCTTC 0.388 8 60 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136579614 136579614 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:136579614C>T uc002tuu.1 - 5 973 c.962G>A c.(961-963)AGT>AAT p.S321N uc002tuv.1_RNA NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 321 Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TGATGAACAACTCAGAAACTC 0.264 10 69 --- --- --- --- PASS PSMD14 10213 broad.mit.edu 37 2 162242083 162242083 + Splice_Site SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:162242083G>C uc002ubu.2 + 8 1037 c.570_splice c.e8+1 p.Q190_splice NM_005805 NP_005796 O00487 PSDE_HUMAN proteasome 26S subunit, non-ATPase 14 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1) 1 ATCTATCCAGGTATTGCCTAT 0.318 5 48 --- --- --- --- PASS GCG 2641 broad.mit.edu 37 2 163003990 163003990 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:163003990C>T uc002ucc.2 - 3 226 c.127G>A c.(127-129)GAT>AAT p.D43N NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 43 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) TGATCAGGATCACTGAGTGGG 0.483 51 282 --- --- --- --- PASS CHRNA1 1134 broad.mit.edu 37 2 175618289 175618289 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:175618289G>T uc002ujd.2 - 7 873 c.795C>A c.(793-795)ATC>ATA p.I265I uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.I240I|CHRNA1_uc002ujf.3_Silent_p.I240I NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 265 Helical. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCAGGCAGGGGATGATGACGT 0.582 19 130 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179236930 179236930 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:179236930C>T uc002ulx.2 + 14 1743 c.1365C>T c.(1363-1365)GTC>GTT p.V455V OSBPL6_uc002ulw.2_Intron|OSBPL6_uc002uly.2_Silent_p.V480V|OSBPL6_uc010zfe.1_Silent_p.V424V|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Silent_p.V459V NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 455 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) ATCAGGTTGTCAGTGTAAATA 0.328 6 69 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179425376 179425376 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:179425376G>T uc010zfg.1 - 275 78003 c.77779C>A c.(77779-77781)CAC>AAC p.H25927N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.H19622N|TTN_uc010zfi.1_Missense_Mutation_p.H19555N|TTN_uc010zfj.1_Missense_Mutation_p.H19430N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26854 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) CATGCAAGGTGGCTTGTTTCA 0.423 7 68 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576077 179576077 + Splice_Site SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:179576077C>T uc010zfg.1 - 94 24379 c.24155_splice c.e94-1 p.E8052_splice TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E4713_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) AGTTTTTGCTCTGTAGGAACA 0.323 16 73 --- --- --- --- PASS SLC23A3 151295 broad.mit.edu 37 2 220034386 220034386 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:220034386C>T uc010zks.1 - 2 288 c.177G>A c.(175-177)ATG>ATA p.M59I NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.M59I|SLC23A3_uc010fwb.2_Missense_Mutation_p.M59I|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 59 Helical; (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGAGAAGCCATGACCAAGA 0.532 8 51 --- --- --- --- PASS SP140 11262 broad.mit.edu 37 2 231120221 231120221 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr2:231120221C>T uc002vql.2 + 12 1329 c.1214C>T c.(1213-1215)TCT>TTT p.S405F SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.S371F|SP140_uc002vqn.2_Missense_Mutation_p.S291F|SP140_uc002vqm.2_Missense_Mutation_p.S345F|SP140_uc010fxl.2_Intron NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 405 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CAGGAAGCCTCTAGCTCCCTA 0.547 14 98 --- --- --- --- PASS SRGAP3 9901 broad.mit.edu 37 3 9036126 9036126 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:9036126G>A uc003brf.1 - 19 2985 c.2309C>T c.(2308-2310)TCG>TTG p.S770L SRGAP3_uc003brg.1_Missense_Mutation_p.S746L NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 770 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CAGGAGCAGCGAGGCCCCCTT 0.587 T RAF1 pilocytic astrocytoma 15 73 --- --- --- --- PASS TMPPE 643853 broad.mit.edu 37 3 33135655 33135655 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:33135655C>T uc003cfk.2 - 2 224 c.33G>A c.(31-33)GCG>GCA p.A11A GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 11 Helical; (Potential). integral to membrane metal ion binding 0 GGGTGGCCTTCGCGCCTAGGG 0.587 14 71 --- --- --- --- PASS DLEC1 9940 broad.mit.edu 37 3 38138086 38138086 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:38138086C>T uc003cho.1 + 15 2219 c.2198C>T c.(2197-2199)TCC>TTC p.S733F DLEC1_uc003chp.1_Missense_Mutation_p.S733F|DLEC1_uc010hgv.1_Missense_Mutation_p.S733F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 733 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTGGGGCACTCCTCCTACTCT 0.532 20 118 --- --- --- --- PASS ANO10 55129 broad.mit.edu 37 3 43621948 43621948 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:43621948C>T uc003cmv.2 - 5 660 c.489G>A c.(487-489)ACG>ACA p.T163T ANO10_uc011azs.1_Silent_p.T163T|ANO10_uc003cmw.2_Silent_p.T97T|ANO10_uc010hil.2_Silent_p.T163T|ANO10_uc011azt.1_Silent_p.T52T NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 163 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 CGATGCCAGACGTGAGCAATC 0.473 8 60 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111993834 111993834 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:111993834T>A uc003dyu.2 - 6 745 c.523A>T c.(523-525)AGT>TGT p.S175C SLC9A10_uc011bhu.1_Translation_Start_Site|SLC9A10_uc010hqc.2_Missense_Mutation_p.S175C NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 175 Helical; (Potential). cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 GTCATCAGACTTTCTCCATTA 0.294 15 96 --- --- --- --- PASS CCDC14 64770 broad.mit.edu 37 3 123667907 123667907 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:123667907T>C uc011bjx.1 - 6 660 c.569A>G c.(568-570)GAG>GGG p.E190G CCDC14_uc003egv.3_5'UTR|CCDC14_uc003egx.3_5'UTR|CCDC14_uc010hrt.2_Missense_Mutation_p.E149G|CCDC14_uc003egy.3_5'UTR|CCDC14_uc003egz.2_5'UTR NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 190 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) CCAGTTTTGCTCTAGGTCTGA 0.388 5 28 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142177868 142177868 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:142177868C>T uc003eux.3 - 44 7557 c.7435G>A c.(7435-7437)GAA>AAA p.E2479K ATR_uc003euy.1_Missense_Mutation_p.E365K NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2479 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 AGAATATTTTCACCATGACGG 0.373 Other_conserved_DNA_damage_response_genes 12 33 --- --- --- --- PASS PLOD2 5352 broad.mit.edu 37 3 145806480 145806480 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:145806480T>C uc003evs.1 - 9 1404 c.898A>G c.(898-900)ATA>GTA p.I300V PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.I245V|PLOD2_uc003evr.1_Missense_Mutation_p.I300V NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 300 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) AAAACACCTATTGATACGTTT 0.308 6 55 --- --- --- --- PASS CPB1 1360 broad.mit.edu 37 3 148558740 148558740 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:148558740G>T uc003ewl.2 + 5 475 c.452G>T c.(451-453)GGA>GTA p.G151V NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 151 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ACATTTGAGGGACGCGCTATT 0.428 12 105 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148614388 148614388 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:148614388G>T uc003ewm.2 + 11 1200 c.1148G>T c.(1147-1149)GGC>GTC p.G383V NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 383 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CGAGATAAAGGCAAATTTGGT 0.433 26 103 --- --- --- --- PASS SLC33A1 9197 broad.mit.edu 37 3 155560403 155560403 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:155560403G>A uc003fan.3 - 2 1162 c.781C>T c.(781-783)CTT>TTT p.L261F SLC33A1_uc003fao.1_Missense_Mutation_p.L261F NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 261 Helical; (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAGAAAAAAAGGAAATCTGAA 0.184 4 45 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178916726 178916726 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:178916726G>T uc003fjk.2 + 2 270 c.113G>T c.(112-114)CGT>CTT p.R38L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 38 PI3K-ABD. R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAATGCCTCCGTGAGGCTACA 0.393 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 79 100 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179525562 179525562 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr3:179525562C>T uc003fki.1 - 14 1706 c.1576G>A c.(1576-1578)GAA>AAA p.E526K PEX5L_uc011bqd.1_Missense_Mutation_p.E483K|PEX5L_uc011bqe.1_Missense_Mutation_p.E334K|PEX5L_uc011bqf.1_Missense_Mutation_p.E418K|PEX5L_uc003fkj.1_Missense_Mutation_p.E491K|PEX5L_uc010hxd.1_Missense_Mutation_p.E524K|PEX5L_uc011bqg.1_Missense_Mutation_p.E502K|PEX5L_uc011bqh.1_Missense_Mutation_p.E467K NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 526 TPR 4. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCCACGGCTTCCTCGCTGCGG 0.542 23 395 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46312249 46312249 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:46312249G>A uc003gxc.3 - 5 1173 c.500C>T c.(499-501)CCA>CTA p.P167L GABRA2_uc010igc.2_Missense_Mutation_p.P167L|GABRA2_uc011bzc.1_Missense_Mutation_p.P112L|GABRA2_uc003gxe.2_Missense_Mutation_p.P167L NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 167 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAAGTGCATTGGGCATTCAGC 0.368 17 68 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114158196 114158196 + Silent SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:114158196G>C uc003ibe.3 + 6 637 c.537G>C c.(535-537)GTG>GTC p.V179V ANK2_uc003ibd.3_Silent_p.V158V|ANK2_uc003ibf.3_Silent_p.V179V|ANK2_uc003ibc.2_Silent_p.V155V|ANK2_uc011cgb.1_Silent_p.V194V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 179 ANK 5. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACCAGGCGGTGGCCATCCTCT 0.498 26 159 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114158197 114158197 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:114158197G>T uc003ibe.3 + 6 638 c.538G>T c.(538-540)GCC>TCC p.A180S ANK2_uc003ibd.3_Missense_Mutation_p.A159S|ANK2_uc003ibf.3_Missense_Mutation_p.A180S|ANK2_uc003ibc.2_Missense_Mutation_p.A156S|ANK2_uc011cgb.1_Missense_Mutation_p.A195S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 180 ANK 5. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCAGGCGGTGGCCATCCTCTT 0.498 27 158 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115858645 115858645 + Silent SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:115858645T>C uc003ibu.2 - 5 1915 c.1236A>G c.(1234-1236)CCA>CCG p.P412P NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 412 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCATGTTGATTGGTATTCCAT 0.398 8 55 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156634427 156634427 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:156634427C>A uc003iov.2 + 8 1800 c.1264C>A c.(1264-1266)CAA>AAA p.Q422K GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q422K|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q422K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q421K|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q422K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.Q187K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q422K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.Q187K|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q422K NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 422 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGCCCGAGCTCAAGATGGCCT 0.512 7 43 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162402262 162402262 + Silent SNP A T T rs141141092 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:162402262A>T uc003iqh.2 - 13 1954 c.1518T>A c.(1516-1518)GCT>GCA p.A506A FSTL5_uc003iqi.2_Silent_p.A505A|FSTL5_uc010iqv.2_Silent_p.A496A NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 506 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGACATTAACAGCTGATGCCC 0.383 31 188 --- --- --- --- PASS TLL1 7092 broad.mit.edu 37 4 166935601 166935601 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:166935601G>T uc003irh.1 + 8 1578 c.931G>T c.(931-933)GAT>TAT p.D311Y TLL1_uc011cjn.1_Missense_Mutation_p.D311Y|TLL1_uc011cjo.1_Missense_Mutation_p.D135Y NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 311 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GATGTTTCTGGATACCATTCT 0.418 41 268 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189018262 189018262 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:189018262C>A uc003izl.2 - 6 584 c.548G>T c.(547-549)AGT>ATT p.S183I TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.S258I NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 183 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GTGGCATAAACTCAGGTCTGT 0.498 27 150 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189018263 189018263 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr4:189018263T>A uc003izl.2 - 6 583 c.547A>T c.(547-549)AGT>TGT p.S183C TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.S258C NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 183 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGGCATAAACTCAGGTCTGTG 0.498 26 150 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13776797 13776797 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:13776797G>T uc003jfd.2 - 55 9166 c.9124C>A c.(9124-9126)CGA>AGA p.R3042R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3042 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATTTCATCTCGAGCAAATAGG 0.383 Kartagener_syndrome 13 77 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36104168 36104168 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:36104168C>T uc003jkb.1 - 18 2483 c.2068G>A c.(2068-2070)GAC>AAC p.D690N uc003jka.1_5'Flank NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 690 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTAAATATGTCACTGCGAGAC 0.383 4 26 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41201677 41201677 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:41201677G>T uc003jmk.2 - 3 493 c.283C>A c.(283-285)CCT>ACT p.P95T C6_uc003jml.1_Missense_Mutation_p.P95T NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 95 TSP type-1 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCAATACAAGGGTCACAGTCT 0.458 10 45 --- --- --- --- PASS DEPDC1B 55789 broad.mit.edu 37 5 59940622 59940622 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:59940622T>A uc003jsh.2 - 5 732 c.659A>T c.(658-660)AAT>ATT p.N220I DEPDC1B_uc011cqm.1_Missense_Mutation_p.N220I|DEPDC1B_uc011cqn.1_Missense_Mutation_p.N193I NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 220 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) ACTATATACATTATGGATGAT 0.308 11 68 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257089 63257089 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:63257089G>T uc011cqt.1 - 1 458 c.458C>A c.(457-459)GCC>GAC p.A153D NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 153 Helical; Name=4; (By similarity). RAA -> PR (in Ref. 1; AAA36440/CAA31908). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GAGCGCAGCGGCGCGCCGGGG 0.647 19 88 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89999529 89999529 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:89999529A>T uc003kju.2 + 35 8299 c.8203A>T c.(8203-8205)AAT>TAT p.N2735Y GPR98_uc003kjt.2_Missense_Mutation_p.N441Y|GPR98_uc003kjv.2_Missense_Mutation_p.N335Y NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2735 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGTCGAGGAAATGTTACTGT 0.318 4 32 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139838244 139838244 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:139838244A>T uc003lfs.1 + 8 1401 c.1277A>T c.(1276-1278)GAT>GTT p.D426V ANKHD1_uc003lfq.1_Missense_Mutation_p.D426V|ANKHD1_uc003lfr.2_Missense_Mutation_p.D426V|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.D415V|ANKHD1_uc003lfo.2_Missense_Mutation_p.D426V|ANKHD1_uc010jfk.2_Missense_Mutation_p.D426V NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 426 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCTTTTGGATAGTGGTGCT 0.408 7 51 --- --- --- --- PASS HARS2 23438 broad.mit.edu 37 5 140073533 140073533 + Missense_Mutation SNP T G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:140073533T>G uc003lgx.2 + 3 413 c.197T>G c.(196-198)CTT>CGT p.L66R HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_5'UTR|HARS2_uc011czr.1_Missense_Mutation_p.L41R|HARS2_uc011czs.1_5'UTR|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 66 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGGGATCTTAGTCCTCAG 0.398 30 233 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188235 140188235 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:140188235C>T uc003lhi.2 + 1 1564 c.1463C>T c.(1462-1464)GCG>GTG p.A488V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A488V|PCDHA4_uc011daa.1_Missense_Mutation_p.A488V NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 488 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGAGAACGCGCTGGTGTCC 0.652 12 56 --- --- --- --- PASS ANXA6 309 broad.mit.edu 37 5 150518926 150518926 + Silent SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:150518926G>C uc003ltl.1 - 4 344 c.192C>G c.(190-192)TCC>TCG p.S64S ANXA6_uc011dcp.1_Silent_p.S32S|ANXA6_uc003ltm.1_Silent_p.S64S|ANXA6_uc003ltn.1_Silent_p.S64S|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 64 Annexin 1. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCGTAGAGGGACTTGTAGC 0.547 8 42 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156766092 156766092 + Silent SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:156766092C>A uc003lwq.2 + 24 2551 c.2413C>A c.(2413-2415)CGG>AGG p.R805R CYFIP2_uc011ddn.1_Silent_p.R779R|CYFIP2_uc011ddo.1_Silent_p.R609R|CYFIP2_uc003lwr.2_Silent_p.R805R|CYFIP2_uc003lws.2_Silent_p.R805R|CYFIP2_uc003lwt.2_Silent_p.R708R|CYFIP2_uc011ddp.1_Silent_p.R539R NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 830 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) GGAGATTAACCGGCTCACGCA 0.522 4 9 --- --- --- --- PASS SLU7 10569 broad.mit.edu 37 5 159839520 159839520 + Nonsense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:159839520G>A uc003lyg.2 - 6 732 c.577C>T c.(577-579)CGA>TGA p.R193* NM_006425 NP_006416 O95391 SLU7_HUMAN step II splicing factor SLU7 193 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCAATGTTCGTTTTGCCTTT 0.254 11 65 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178566994 178566994 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:178566994G>A uc003mjw.2 - 11 1672 c.1672C>T c.(1672-1674)CTC>TTC p.L558F NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 558 Disintegrin. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TCCCGTTTGAGGATGTCAGGT 0.602 32 216 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180030235 180030235 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr5:180030235G>T uc003mlz.3 - 30 4128 c.4049C>A c.(4048-4050)TCC>TAC p.S1350Y NM_182925 NP_891555 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 1 Error:Variant_position_missing_in_P35916_after_alignment positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGCAGACGGGGAGCAGTGGTC 0.662 Congenital_Hereditary_Lymphedema 10 54 --- --- --- --- PASS SLC17A3 10786 broad.mit.edu 37 6 25868572 25868572 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:25868572T>C uc003nfi.3 - 2 154 c.44A>G c.(43-45)AAG>AGG p.K15R SLC17A3_uc003nfk.3_Missense_Mutation_p.K15R|SLC17A3_uc011djz.1_Missense_Mutation_p.K15R|SLC17A3_uc011dka.1_Missense_Mutation_p.K15R NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 15 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 TTGTGCGTTCTTGCTCTCCCT 0.433 15 55 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31749681 31749681 + Missense_Mutation SNP G A A rs55786236 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:31749681G>A uc003nxe.2 - 19 2713 c.2290C>T c.(2290-2292)CGG>TGG p.R764W VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 764 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GCCTTCTCCCGGGCCTCCGCC 0.627 42 172 --- --- --- --- PASS DAXX 1616 broad.mit.edu 37 6 33288240 33288240 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:33288240C>T uc003oec.2 - 4 1372 c.1168G>A c.(1168-1170)GAG>AAG p.E390K ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.E315K|DAXX_uc011dre.1_Missense_Mutation_p.E402K|DAXX_uc003oed.2_Missense_Mutation_p.E390K|DAXX_uc010juw.2_Missense_Mutation_p.E315K NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 390 Potential.|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 TTTTTTCTCTCGCCCTCCTCA 0.557 Mis|F|N Pancreatic neuroendocrine tumors 17 89 --- --- --- --- PASS C6orf222 389384 broad.mit.edu 37 6 36298396 36298396 + Silent SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:36298396G>C uc003oly.2 - 2 250 c.72C>G c.(70-72)GCC>GCG p.A24A NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 24 skin(2)|ovary(1)|breast(1) 4 CTTTCCCGGGGGCCTGCGGCC 0.642 13 88 --- --- --- --- PASS PAQR8 85315 broad.mit.edu 37 6 52268702 52268702 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:52268702C>T uc003pao.3 + 2 865 c.691C>T c.(691-693)CGT>TGT p.R231C NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 231 Helical; Name=4; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) TGTGGCACACCGTGTGGCGCT 0.547 12 55 --- --- --- --- PASS PRDM1 639 broad.mit.edu 37 6 106554352 106554352 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:106554352G>A uc003prd.2 + 6 2114 c.1880G>A c.(1879-1881)GGA>GAA p.G627E PRDM1_uc003pre.2_Missense_Mutation_p.G493E NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 627 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GTACACACGGGAGAAAAGCCA 0.498 D|N|Mis|F|S DLBCL 13 61 --- --- --- --- PASS SLC22A16 85413 broad.mit.edu 37 6 110746252 110746252 + Silent SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:110746252A>G uc003puf.2 - 8 1625 c.1558T>C c.(1558-1560)TTA>CTA p.L520L SLC22A16_uc003pue.2_Silent_p.L501L NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 520 Helical; (Potential). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TTTAGTGTTAACACTCCACTC 0.428 16 107 --- --- --- --- PASS FRK 2444 broad.mit.edu 37 6 116263644 116263644 + Missense_Mutation SNP C A A rs141525046 by1000genomes TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr6:116263644C>A uc003pwi.1 - 8 1898 c.1451G>T c.(1450-1452)CGT>CTT p.R484L NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 484 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R484C(1) ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAGTTTCCAACGCAGTGTCTC 0.388 10 104 --- --- --- --- PASS C7orf31 136895 broad.mit.edu 37 7 25218815 25218815 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:25218815C>T uc003sxn.1 - 2 674 c.113G>A c.(112-114)CGC>CAC p.R38H NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 38 0 GGCAGTTGGGCGAGTAACCGT 0.428 11 72 --- --- --- --- PASS INMT 11185 broad.mit.edu 37 7 30795128 30795128 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:30795128G>A uc003tbs.1 + 3 469 c.453G>A c.(451-453)CCG>CCA p.P151P FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.P150P NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 151 cytoplasm amine N-methyltransferase activity 0 CGCTGGCCCCGGCTGTGTTGC 0.657 15 42 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31855568 31855568 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:31855568C>T uc003tcm.1 - 15 2252 c.1783G>A c.(1783-1785)GAG>AAG p.E595K PDE1C_uc003tcn.1_Missense_Mutation_p.E595K|PDE1C_uc003tco.1_Missense_Mutation_p.E655K|PDE1C_uc003tcr.2_Missense_Mutation_p.E595K|PDE1C_uc003tcs.2_Missense_Mutation_p.E595K NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 595 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) GATGACTTCTCGGCTTTGGAG 0.443 28 253 --- --- --- --- PASS VOPP1 81552 broad.mit.edu 37 7 55559980 55559980 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:55559980C>A uc003tqs.2 - 4 506 c.323G>T c.(322-324)GGC>GTC p.G108V VOPP1_uc003tqq.2_Missense_Mutation_p.G99V|VOPP1_uc010kzh.2_Missense_Mutation_p.G105V|VOPP1_uc010kzi.2_Missense_Mutation_p.G91V|VOPP1_uc011kcr.1_Missense_Mutation_p.G40V NM_030796 NP_110423 Q96AW1 VOPP1_HUMAN EGFR-coamplified and overexpressed protein 108 Pro-rich.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity 0 CTGACCTGGGCCGGGATTTGG 0.602 3 25 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71175877 71175877 + Silent SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:71175877C>A uc003tvy.2 + 10 1632 c.1632C>A c.(1630-1632)GTC>GTA p.V544V WBSCR17_uc003tvz.2_Silent_p.V243V NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 544 Ricin B-type lectin.|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) GCGACAAGGTCAAGAGCAGCC 0.612 8 52 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95442571 95442571 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:95442571T>C uc003uoc.3 + 4 564 c.287T>C c.(286-288)ATG>ACG p.M96T DYNC1I1_uc003uod.3_Missense_Mutation_p.M79T|DYNC1I1_uc003uob.2_Missense_Mutation_p.M79T|DYNC1I1_uc003uoe.3_Missense_Mutation_p.M96T|DYNC1I1_uc010lfl.2_Missense_Mutation_p.M85T NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 96 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CCAACCCCTATGTCTCCCTCC 0.448 12 100 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98488019 98488019 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:98488019C>T uc003upp.2 + 4 421 c.212C>T c.(211-213)ACA>ATA p.T71I TRRAP_uc011kis.1_Missense_Mutation_p.T71I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 71 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CGATTCCTTACATTTCTCCAA 0.393 9 49 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508642 106508642 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:106508642G>T uc003vdv.3 + 2 721 c.636G>T c.(634-636)TGG>TGT p.W212C PIK3CG_uc003vdu.2_Missense_Mutation_p.W212C|PIK3CG_uc003vdw.2_Missense_Mutation_p.W212C NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 212 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AGTACCTGTGGAAGAAGATTG 0.637 10 78 --- --- --- --- PASS C7orf34 135927 broad.mit.edu 37 7 142637536 142637536 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:142637536G>A uc003wca.2 + 2 347 c.306G>A c.(304-306)TCG>TCA p.S102S NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 77 extracellular region 0 Melanoma(164;0.059) AAGACCAGTCGTCCAAGACGG 0.542 25 127 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657764 143657764 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:143657764G>C uc003wds.1 + 1 745 c.701G>C c.(700-702)AGA>ACA p.R234T NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) AGAGAAGGAAGAAAGAAAGCT 0.498 14 103 --- --- --- --- PASS GIMAP6 474344 broad.mit.edu 37 7 150324980 150324980 + Missense_Mutation SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr7:150324980A>G uc003whn.2 - 3 1130 c.706T>C c.(706-708)TAC>CAC p.Y236H GIMAP6_uc003whm.2_Missense_Mutation_p.Y156H NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 236 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTATATTGGTAAGCCTTGTTG 0.517 31 164 --- --- --- --- PASS MFHAS1 9258 broad.mit.edu 37 8 8747574 8747574 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:8747574G>C uc003wsj.1 - 1 3558 c.2995C>G c.(2995-2997)CCA>GCA p.P999A NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 999 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CACTTACCTGGAAAAGCATGT 0.438 3 95 --- --- --- --- PASS GSR 2936 broad.mit.edu 37 8 30557630 30557630 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:30557630G>A uc003xih.1 - 6 754 c.663C>T c.(661-663)AGC>AGT p.S221S NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 221 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) AAAATCCATCGCTGGTTATTC 0.428 25 101 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35631953 35631953 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:35631953G>T uc003xjr.1 + 16 2943 c.2615G>T c.(2614-2616)GGC>GTC p.G872V UNC5D_uc003xjs.1_Missense_Mutation_p.G867V|UNC5D_uc003xju.1_Missense_Mutation_p.G448V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 872 Death.|Cytoplasmic (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) AATGCCAAAGGCAAGGACTGG 0.463 28 62 --- --- --- --- PASS TGS1 96764 broad.mit.edu 37 8 56711626 56711626 + Missense_Mutation SNP A T T rs140316366 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:56711626A>T uc003xsj.3 + 8 2083 c.1696A>T c.(1696-1698)AAT>TAT p.N566Y TGS1_uc010lyh.2_Missense_Mutation_p.N470Y NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 566 Missing (in Ref. 1; AAK27730). cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ACTGGAGACTAATAATCCAGA 0.418 13 93 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69000007 69000007 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:69000007G>A uc003xxv.1 + 19 2103 c.2076G>A c.(2074-2076)CGG>CGA p.R692R PREX2_uc003xxu.1_Silent_p.R692R|PREX2_uc011lez.1_Silent_p.R627R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 692 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TCCAGATCCGGGGATTTGGCC 0.453 20 180 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765739 77765739 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:77765739C>G uc003yav.2 + 10 6834 c.6447C>G c.(6445-6447)AAC>AAG p.N2149K ZFHX4_uc003yau.1_Missense_Mutation_p.N2194K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N2149K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2149 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACCATACAACTTCAGTAACC 0.368 HNSCC(33;0.089) 24 194 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113331091 113331091 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:113331091C>T uc003ynu.2 - 47 7494 c.7335G>A c.(7333-7335)ATG>ATA p.M2445I CSMD3_uc003yns.2_Missense_Mutation_p.M1647I|CSMD3_uc003ynt.2_Missense_Mutation_p.M2405I|CSMD3_uc011lhx.1_Missense_Mutation_p.M2341I|CSMD3_uc003ynw.1_Missense_Mutation_p.M156I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2445 Extracellular (Potential).|Sushi 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTGCTCCATCCATCTGCAGTC 0.333 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 79 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113585850 113585850 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:113585850C>A uc003ynu.2 - 24 4081 c.3922G>T c.(3922-3924)GGT>TGT p.G1308C CSMD3_uc003yns.2_Missense_Mutation_p.G580C|CSMD3_uc003ynt.2_Missense_Mutation_p.G1268C|CSMD3_uc011lhx.1_Missense_Mutation_p.G1204C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1308 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTAAAAGCACCTAGTAGATGA 0.338 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 111 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120754867 120754867 + Nonsense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:120754867G>A uc003you.2 - 25 3514 c.3244C>T c.(3244-3246)CGA>TGA p.R1082* NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 1082 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AAAGCAGATCGGGAGCTAGCT 0.453 4 55 --- --- --- --- PASS TSNARE1 203062 broad.mit.edu 37 8 143412282 143412282 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:143412282C>T uc003ywk.2 - 6 991 c.873G>A c.(871-873)ACG>ACA p.T291T TSNARE1_uc011lju.1_Silent_p.T291T|TSNARE1_uc003ywj.2_Silent_p.T291T|TSNARE1_uc003ywl.3_Silent_p.T72T NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 291 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GAAGCTCCTGCGTGTCACTCG 0.637 9 70 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144941397 144941397 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:144941397C>G uc003zaa.1 - 1 6038 c.6025G>C c.(6025-6027)GTG>CTG p.V2009L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2009 Plectin 34. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACCTGCACCTCCAGCAGC 0.637 6 36 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144993462 144993462 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr8:144993462G>A uc003zaf.1 - 32 11108 c.10938C>T c.(10936-10938)ACC>ACT p.T3646T PLEC_uc003zab.1_Silent_p.T3509T|PLEC_uc003zac.1_Silent_p.T3513T|PLEC_uc003zad.2_Silent_p.T3509T|PLEC_uc003zae.1_Silent_p.T3477T|PLEC_uc003zag.1_Silent_p.T3487T|PLEC_uc003zah.2_Silent_p.T3495T|PLEC_uc003zaj.2_Silent_p.T3536T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3646 Globular 2.|Plectin 16. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGAAGCCCTTGGTGTCGTCGC 0.657 17 149 --- --- --- --- PASS IFNA14 3448 broad.mit.edu 37 9 21239830 21239830 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:21239830C>A uc010mis.2 - 1 149 c.105G>T c.(103-105)AGG>AGT p.R35S IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 35 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCAAAGTCCTCCTGTTATTCA 0.488 34 117 --- --- --- --- PASS KIAA1161 57462 broad.mit.edu 37 9 34371052 34371052 + Silent SNP A C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:34371052A>C uc003zue.3 - 3 2057 c.1890T>G c.(1888-1890)GGT>GGG p.G630G NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 630 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CGATAGGGTCACCCGTGTCGG 0.662 4 16 --- --- --- --- PASS FAM74A3 728495 broad.mit.edu 37 9 40716029 40716029 + RNA SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:40716029G>A uc010mmk.2 + 1 c.506G>A NR_026801 Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA. skin(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGAGTTCAGAGGCTGTCCCGG 0.547 7 36 --- --- --- --- PASS TMEM2 23670 broad.mit.edu 37 9 74319524 74319524 + Missense_Mutation SNP C T T rs138339130 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:74319524C>T uc011lsa.1 - 18 3721 c.3181G>A c.(3181-3183)GTC>ATC p.V1061I TMEM2_uc011lrz.1_Missense_Mutation_p.V54I|TMEM2_uc010mos.2_Missense_Mutation_p.V998I|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1061 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TTGAAGTTGACGAGGTATAGA 0.428 14 89 --- --- --- --- PASS ZNF510 22869 broad.mit.edu 37 9 99525824 99525824 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:99525824C>T uc004awn.1 - 4 409 c.220G>A c.(220-222)GTG>ATG p.V74M ZNF510_uc004awo.1_Missense_Mutation_p.V74M NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) TCCAGCATCACATCTCTGTAC 0.438 4 84 --- --- --- --- PASS C9orf84 158401 broad.mit.edu 37 9 114490198 114490198 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:114490198C>T uc004bfr.2 - 11 1492 c.1357G>A c.(1357-1359)GAC>AAC p.D453N C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.D414N|C9orf84_uc010mug.2_Missense_Mutation_p.D399N NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 453 ovary(2) 2 GAGAAATAGTCATCAGAAAAA 0.328 14 68 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120470927 120470927 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:120470927C>G uc004bjz.2 + 2 471 c.180C>G c.(178-180)GAC>GAG p.D60E TLR4_uc004bka.2_Missense_Mutation_p.D20E|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 60 LRR 1.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AGAACCTGGACCTGAGCTTTA 0.433 38 192 --- --- --- --- PASS CDK5RAP2 55755 broad.mit.edu 37 9 123287340 123287340 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:123287340G>A uc004bkf.2 - 11 1197 c.1016C>T c.(1015-1017)TCT>TTT p.S339F CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S339F|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S339F|CDK5RAP2_uc004bki.2_Missense_Mutation_p.S138F NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 339 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 TTCAATTTCAGAGTTAAGTTC 0.453 7 63 --- --- --- --- PASS OR5C1 392391 broad.mit.edu 37 9 125551578 125551578 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr9:125551578G>C uc011lzd.1 + 1 367 c.367G>C c.(367-369)GCC>CCC p.A123P NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 123 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A123D(1) pancreas(1) 1 GGCAGCCATGGCCTATGACCG 0.577 15 113 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50724810 50724810 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr10:50724810G>A uc001jht.2 - 2 606 c.351C>T c.(349-351)GCC>GCT p.A117A ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.A585A|PGBD3_uc001jhu.2_Silent_p.A585A NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 117 pancreas(1)|breast(1)|skin(1) 3 CAGTTAGGTCGGCTTTTTTCC 0.423 15 85 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68687171 68687171 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr10:68687171C>A uc001jmz.1 + 2 1047 c.497C>A c.(496-498)TCT>TAT p.S166Y CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.S166Y NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 166 Extracellular (Potential).|LRR 5. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CATTTACGGTCTAACTCCCTG 0.473 22 147 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69959266 69959266 + Missense_Mutation SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr10:69959266A>G uc001jnm.3 + 18 3612 c.3427A>G c.(3427-3429)ACC>GCC p.T1143A MYPN_uc001jnn.3_Missense_Mutation_p.T868A|MYPN_uc001jno.3_Missense_Mutation_p.T1143A|MYPN_uc009xpt.2_Missense_Mutation_p.T1143A|MYPN_uc010qit.1_Missense_Mutation_p.T849A|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1143 Ig-like 4.|Interaction with ACTN. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CGACGCAGGGACCTATAAGTG 0.537 12 61 --- --- --- --- PASS PRF1 5551 broad.mit.edu 37 10 72360182 72360182 + Silent SNP G T T rs139175805 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr10:72360182G>T uc009xqg.2 - 2 638 c.477C>A c.(475-477)GCC>GCA p.A159A PRF1_uc001jrf.3_Silent_p.A159A NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 159 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GGGTCTTCTGGGCTGCAAAGT 0.612 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 5 62 --- --- --- --- PASS GPR123 84435 broad.mit.edu 37 10 134896348 134896348 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr10:134896348C>T uc001llw.2 + 7 1360 c.1360C>T c.(1360-1362)CGC>TGC p.R454C Q86SQ6 GP123_HUMAN RecName: Full=Probable G-protein coupled receptor 123; 207 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCACCCTGGACGCAGGCCCTG 0.662 3 12 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22363155 22363155 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:22363155G>A uc001mqk.2 + 2 581 c.168G>A c.(166-168)AAG>AAA p.K56K NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 56 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CCGAGAGGAAGGCGCCGCTGT 0.647 4 31 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32450095 32450095 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:32450095G>A uc001mtn.1 - 2 913 c.717C>T c.(715-717)TTC>TTT p.F239F WT1_uc001mtl.1_Silent_p.F27F|WT1_uc001mtm.1_Silent_p.F27F|WT1_uc001mto.1_Silent_p.F239F|WT1_uc001mtp.1_Silent_p.F239F|WT1_uc001mtq.1_Silent_p.F239F|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 171 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) AGTGGTTGGGGAACTGCGCCG 0.627 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 8 43 --- --- --- --- PASS TRIM48 79097 broad.mit.edu 37 11 55032408 55032408 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:55032408A>T uc010rid.1 + 2 163 c.77A>T c.(76-78)CAG>CTG p.Q26L NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 10 intracellular zinc ion binding 0 CAAGTCTTCCAGAGGGAACTC 0.488 91 258 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62297253 62297253 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:62297253C>T uc001ntl.2 - 5 4936 c.4636G>A c.(4636-4638)GTG>ATG p.V1546M AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1546 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCAATGTCCACCTTGGGTCCT 0.478 40 184 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64402790 64402790 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:64402790G>T uc001oap.2 - 3 911 c.400C>A c.(400-402)CGG>AGG p.R134R NRXN2_uc001oar.2_Silent_p.R1180R|NRXN2_uc001oas.2_Silent_p.R1140R|NRXN2_uc001oaq.2_Silent_p.R847R NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 134 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CTGTCCACCCGCACCAGCACA 0.642 7 39 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64418907 64418907 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:64418907C>A uc001oar.2 - 15 3177 c.2738G>T c.(2737-2739)CGT>CTT p.R913L NRXN2_uc001oas.2_Missense_Mutation_p.R873L|NRXN2_uc001oaq.2_Missense_Mutation_p.R580L NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CACGATGGCACGCAGGCCAAA 0.582 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 --- --- --- --- PASS SSH3 54961 broad.mit.edu 37 11 67079325 67079325 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:67079325C>T uc001okj.2 + 14 2125 c.1947C>T c.(1945-1947)AGC>AGT p.S649S SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Silent_p.S503S NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 649 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GACAGGCCAGCGTGCATGACA 0.507 8 98 --- --- --- --- PASS RSF1 51773 broad.mit.edu 37 11 77412282 77412282 + Silent SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:77412282T>C uc001oyn.2 - 6 2112 c.1992A>G c.(1990-1992)GTA>GTG p.V664V RSF1_uc001oym.2_Silent_p.V412V NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 664 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TTTCTAGGTCTACTTTTTTCA 0.428 27 154 --- --- --- --- PASS HSPA8 3312 broad.mit.edu 37 11 122929458 122929458 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:122929458G>A uc001pyo.2 - 7 1482 c.1404C>T c.(1402-1404)CCC>CCT p.P468P HSPA8_uc009zbc.2_Silent_p.P232P|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Silent_p.P391P NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 468 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GAACACCTCGGGGTGCAGGAG 0.443 12 70 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134037997 134037997 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr11:134037997A>T uc001qhd.1 - 27 4073 c.3467T>A c.(3466-3468)CTT>CAT p.L1156H NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.L106H NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1156 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CATTGCCAAAAGCTTGATCTC 0.493 24 88 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31301044 31301044 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:31301044G>T uc010sjy.1 - 11 1216 c.1216C>A c.(1216-1218)CGA>AGA p.R406R RecName: Full=Ovostatin homolog 1; Flags: Precursor; CTCTTAGGTCGAACATATGTG 0.468 13 117 --- --- --- --- PASS WNT10B 7480 broad.mit.edu 37 12 49361766 49361766 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:49361766G>A uc001rss.2 - 4 1020 c.674C>T c.(673-675)GCA>GTA p.A225V WNT10B_uc001rst.2_Missense_Mutation_p.H178Y NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 225 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 TCGCATTCGTGCCTGGATGTC 0.542 11 58 --- --- --- --- PASS KRT84 3890 broad.mit.edu 37 12 52774341 52774341 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:52774341G>A uc001sah.1 - 7 1278 c.1230C>T c.(1228-1230)GCC>GCT p.A410A NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 410 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCGGCCTCGGCCACTGCAG 0.647 OREG0021848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 27 --- --- --- --- PASS KRT72 140807 broad.mit.edu 37 12 52979817 52979817 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:52979817G>A uc001sar.2 - 9 1571 c.1485C>T c.(1483-1485)CCC>CCT p.P495P KRT72_uc001saq.2_Silent_p.P495P|KRT72_uc010sns.1_Silent_p.P453P|KRT72_uc010snt.1_Silent_p.P307P NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 495 Tail. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) TTTTGGCAAGGGGATCCTTGA 0.557 39 176 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101576588 101576588 + Silent SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:101576588T>C uc001thz.3 - 9 1548 c.1158A>G c.(1156-1158)CAA>CAG p.Q386Q NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 386 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 TACTCATTCCTTGGGAAATCC 0.383 12 64 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102036228 102036228 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:102036228G>T uc001tii.2 + 9 724 c.622G>T c.(622-624)GTG>TTG p.V208L MYBPC1_uc001tif.1_Missense_Mutation_p.V221L|MYBPC1_uc001tig.2_Missense_Mutation_p.V233L|MYBPC1_uc010svq.1_Missense_Mutation_p.V195L|MYBPC1_uc001tih.2_Missense_Mutation_p.V233L|MYBPC1_uc001tij.2_Missense_Mutation_p.V208L|MYBPC1_uc010svr.1_Missense_Mutation_p.V208L|MYBPC1_uc010svs.1_Missense_Mutation_p.V208L|MYBPC1_uc010svt.1_Missense_Mutation_p.V196L|MYBPC1_uc010svu.1_Missense_Mutation_p.V189L|MYBPC1_uc001tik.2_Missense_Mutation_p.V182L NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 208 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 AGAACCCCAGGTGGACGTATG 0.552 8 71 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102057289 102057289 + Silent SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:102057289T>A uc001tii.2 + 20 2334 c.2232T>A c.(2230-2232)ATT>ATA p.I744I MYBPC1_uc001tig.2_Silent_p.I769I|MYBPC1_uc010svq.1_Silent_p.I731I|MYBPC1_uc001tih.2_Silent_p.I769I|MYBPC1_uc001tij.2_Silent_p.I744I|MYBPC1_uc010svr.1_Silent_p.I744I|MYBPC1_uc010svs.1_Silent_p.I744I|MYBPC1_uc010svt.1_Silent_p.I732I|MYBPC1_uc010svu.1_Silent_p.I725I|MYBPC1_uc001tik.2_Silent_p.I718I|MYBPC1_uc001til.2_5'Flank|MYBPC1_uc001tim.2_5'Flank NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 744 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 CAGACCACATTGGTGCAGCAG 0.443 20 57 --- --- --- --- PASS MLXIP 22877 broad.mit.edu 37 12 122613736 122613736 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:122613736G>A uc001ubq.2 + 4 659 c.659G>A c.(658-660)CGG>CAG p.R220Q MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 220 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ATTGTGATCCGGGAGTATCAC 0.557 3 14 --- --- --- --- PASS ULK1 8408 broad.mit.edu 37 12 132404121 132404121 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:132404121C>T uc001uje.2 + 25 3057 c.2789C>T c.(2788-2790)TCC>TTC p.S930F NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 930 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGCCTGTCGTCCACTGTGAAG 0.647 9 94 --- --- --- --- PASS ULK1 8408 broad.mit.edu 37 12 132404132 132404132 + Nonsense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr12:132404132C>T uc001uje.2 + 25 3068 c.2800C>T c.(2800-2802)CAG>TAG p.Q934* NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 934 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CACTGTGAAGCAGGGTGAGGG 0.637 9 89 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39435583 39435583 + Missense_Mutation SNP G T T rs61978626 byFrequency TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr13:39435583G>T uc001uwv.2 + 15 7844 c.7535G>T c.(7534-7536)CGT>CTT p.R2512L FREM2_uc001uww.2_Missense_Mutation_p.R598L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2512 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTCAGCCCCGTGTACCTGGG 0.408 18 74 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67800644 67800644 + Silent SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr13:67800644A>G uc001vik.2 - 2 2621 c.1929T>C c.(1927-1929)TTT>TTC p.F643F PCDH9_uc001vil.2_Silent_p.F643F|PCDH9_uc010thl.1_Silent_p.F643F|PCDH9_uc001vin.3_Silent_p.F643F NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 643 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTTTGACATCAAAAGTGTAGG 0.403 15 79 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70681632 70681632 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr13:70681632G>A uc001vip.2 - 1 994 c.200C>T c.(199-201)ACT>ATT p.T67I KLHL1_uc010thm.1_Missense_Mutation_p.T67I|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 67 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTCCAGAAAGTGCTCACACC 0.448 16 65 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 108518929 108518929 + Missense_Mutation SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr13:108518929A>G uc001vql.2 - 1 532 c.16T>C c.(16-18)TGG>CGG p.W6R NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 6 integral to membrane binding skin(1) 1 CGACACATCCAAGCACCCCTG 0.552 25 106 --- --- --- --- PASS RNASE11 122651 broad.mit.edu 37 14 21052206 21052206 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr14:21052206G>T uc010ahv.2 - 2 613 c.428C>A c.(427-429)CCT>CAT p.P143H RNASE11_uc010ahx.2_Missense_Mutation_p.P143H|RNASE11_uc010ahw.2_Missense_Mutation_p.P143H|RNASE11_uc001vxs.2_Missense_Mutation_p.P143H NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 143 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GCTTATGCCAGGATTCTGTAC 0.512 9 52 --- --- --- --- PASS TRIM9 114088 broad.mit.edu 37 14 51467493 51467493 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr14:51467493C>A uc001wyx.3 - 6 2137 c.1372G>T c.(1372-1374)GCT>TCT p.A458S TRIM9_uc001wyy.2_Missense_Mutation_p.A454S|TRIM9_uc001wyz.3_Missense_Mutation_p.A458S NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 458 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) GACAACGTAGCGCTGTTGTTG 0.522 12 65 --- --- --- --- PASS ABCD4 5826 broad.mit.edu 37 14 74764641 74764641 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr14:74764641G>A uc001xpr.2 - 4 569 c.417C>T c.(415-417)ATC>ATT p.I139I ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Silent_p.I52I|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_RNA NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 139 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) ACGGGTTATCGATGTCATCCC 0.582 15 64 --- --- --- --- PASS ZNF839 55778 broad.mit.edu 37 14 102792497 102792497 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr14:102792497C>T uc001ylo.2 + 2 466 c.116C>T c.(115-117)CCG>CTG p.P39L ZNF839_uc010awk.1_Missense_Mutation_p.P155L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P39L|ZNF839_uc001ylr.2_Missense_Mutation_p.P39L NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 39 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 AGGGTACAGCCGCTTGTGAGA 0.597 4 33 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 29997906 29997906 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:29997906C>G uc001zcr.2 - 26 5369 c.4894G>C c.(4894-4896)GTG>CTG p.V1632L TJP1_uc010azl.2_Missense_Mutation_p.V1620L|TJP1_uc001zcq.2_Missense_Mutation_p.V1556L|TJP1_uc001zcs.2_Missense_Mutation_p.V1552L NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1632 ZU5. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTGGCCACCACAGTATGACCA 0.458 13 97 --- --- --- --- PASS NOP10 55505 broad.mit.edu 37 15 34634212 34634212 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:34634212C>G uc001zie.1 - 2 240 c.152G>C c.(151-153)CGC>CCC p.R51P C15orf55_uc010ucc.1_5'Flank|C15orf55_uc010ucd.1_5'Flank NM_018648 NP_061118 Q9NPE3 NOP10_HUMAN nucleolar protein family A, member 3 51 pseudouridine synthesis|rRNA processing Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding 0 CACCTTGAAGCGTTTCTTGAT 0.537 8 56 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62201244 62201244 + Silent SNP T G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:62201244T>G uc002agz.2 - 65 8999 c.8925A>C c.(8923-8925)GCA>GCC p.A2975A VPS13C_uc002aha.2_Silent_p.A2932A|VPS13C_uc002ahb.1_Silent_p.A2975A|VPS13C_uc002ahc.1_Silent_p.A2932A|VPS13C_uc002ahd.1_Silent_p.A352A NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2975 protein localization ovary(2) 2 TCAAGGCAGGTGCAGATCCCT 0.373 9 72 --- --- --- --- PASS SNX33 257364 broad.mit.edu 37 15 75941618 75941618 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:75941618G>A uc002bau.2 + 1 271 c.175G>A c.(175-177)GTC>ATC p.V59I IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 59 SH3. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 TGTGGAGATCGTCCGTTCTGG 0.607 12 63 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 77020994 77020994 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:77020994C>T uc002bby.2 - 16 2166 c.2107G>A c.(2107-2109)GAA>AAA p.E703K SCAPER_uc010bkr.2_Missense_Mutation_p.E11K|SCAPER_uc002bbx.2_Missense_Mutation_p.E457K|SCAPER_uc002bbz.1_Missense_Mutation_p.E574K|SCAPER_uc002bca.1_Missense_Mutation_p.E568K|SCAPER_uc002bcb.1_Missense_Mutation_p.E709K NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 702 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 CTCTGTTGTTCAATTCGGGCT 0.448 34 140 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79064110 79064110 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:79064110G>A uc002bej.3 - 15 2404 c.2193C>T c.(2191-2193)GCC>GCT p.A731A ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.A731A NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 731 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TGGCAGCCTCGGCAACCTCTT 0.622 11 52 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81593686 81593686 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:81593686C>T uc002bgh.3 + 15 3527 c.3151C>T c.(3151-3153)CTT>TTT p.L1051F IL16_uc010blq.1_Missense_Mutation_p.L1005F|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.L1093F|IL16_uc002bgg.2_Missense_Mutation_p.L1051F|IL16_uc002bgi.1_Missense_Mutation_p.L441F|IL16_uc002bgj.2_Missense_Mutation_p.L545F|IL16_uc002bgk.2_Missense_Mutation_p.L350F|IL16_uc002bgl.1_Missense_Mutation_p.L350F|IL16_uc010unq.1_Missense_Mutation_p.L350F NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1051 Interaction with HTLV-1 tax. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TTATGAAAGCCTTTCAGAGCT 0.343 13 39 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85476424 85476424 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:85476424G>C uc002blg.2 + 13 1334 c.1132G>C c.(1132-1134)GCC>CCC p.A378P SLC28A1_uc010bnb.2_Missense_Mutation_p.A378P|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A378P|SLC28A1_uc010upg.1_Missense_Mutation_p.A378P NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 378 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGCCCCTTGTGCCTTGGCCCT 0.562 32 171 --- --- --- --- PASS UNC45A 55898 broad.mit.edu 37 15 91483669 91483669 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:91483669C>T uc002bqg.2 + 6 993 c.653C>T c.(652-654)ACG>ATG p.T218M UNC45A_uc002bqd.2_Missense_Mutation_p.T203M|UNC45A_uc010uqo.1_Missense_Mutation_p.T210M|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.T218M NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 218 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCTCTGCGTACGCTGGTTGGC 0.507 12 85 --- --- --- --- PASS ASB7 140460 broad.mit.edu 37 15 101169983 101169983 + Nonsense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr15:101169983C>T uc002bwk.2 + 5 1322 c.553C>T c.(553-555)CGA>TGA p.R185* ASB7_uc002bwj.2_Nonsense_Mutation_p.R185* NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 185 ANK 6. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TTTCCTGTTGCGATACGCCGT 0.493 7 52 --- --- --- --- PASS RPUSD1 113000 broad.mit.edu 37 16 837656 837656 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:837656G>C uc002cka.2 - 1 316 c.82C>G c.(82-84)CGC>GGC p.R28G RPUSD1_uc002ckb.2_Missense_Mutation_p.R28G|RPUSD1_uc002ckc.2_Intron|RPUSD1_uc002ckd.2_Missense_Mutation_p.R28G|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 28 pseudouridine synthesis pseudouridine synthase activity|RNA binding 0 Hepatocellular(780;0.00335) CTGTCAATGCGAACGTCCCAG 0.647 10 67 --- --- --- --- PASS E4F1 1877 broad.mit.edu 37 16 2278471 2278471 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:2278471C>T uc002cpm.2 + 2 304 c.256C>T c.(256-258)CCT>TCT p.P86S E4F1_uc010bsi.2_Missense_Mutation_p.P86S|E4F1_uc010bsj.2_Missense_Mutation_p.P86S NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 86 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCAGCGGGCCCCTCCGGAGGC 0.652 4 33 --- --- --- --- PASS ZNF267 10308 broad.mit.edu 37 16 31896502 31896502 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:31896502G>T uc002ecs.3 + 3 360 c.151G>T c.(151-153)GAC>TAC p.D51Y NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 51 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 CTCTAAGCCGGACCTGATCAC 0.398 8 51 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66943978 66943978 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:66943978G>T uc002eql.2 - 16 2259 c.2186C>A c.(2185-2187)ACC>AAC p.T729N CDH16_uc010cdy.2_Missense_Mutation_p.T707N|CDH16_uc002eqm.2_Missense_Mutation_p.T632N NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 729 Extracellular (Potential).|Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CAGGGCCAAGGTGAGGTAGGC 0.622 17 70 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72992281 72992281 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:72992281C>T uc002fck.2 - 2 2437 c.1764G>A c.(1762-1764)CTG>CTA p.L588L ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 588 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CAGCGAAGTCCAGCCTCCTGC 0.532 11 53 --- --- --- --- PASS KIAA1609 57707 broad.mit.edu 37 16 84516199 84516199 + Missense_Mutation SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:84516199A>G uc002fib.2 - 6 1183 c.1076T>C c.(1075-1077)CTG>CCG p.L359P KIAA1609_uc010vod.1_Missense_Mutation_p.L332P|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 359 TLD. protein binding ovary(2) 2 CGGGCTCACCAGTCCGTTCGG 0.602 5 54 --- --- --- --- PASS ZNF778 197320 broad.mit.edu 37 16 89289672 89289672 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr16:89289672C>T uc002fmv.2 + 4 564 c.225C>T c.(223-225)TAC>TAT p.Y75Y ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.Y5Y|ZNF778_uc010vpg.1_Intron NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) TGGAAAACTACGAGAACCTGG 0.522 10 119 --- --- --- --- PASS KIAA0664 23277 broad.mit.edu 37 17 2598546 2598546 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:2598546C>A uc002fuy.1 - 15 2542 c.2456G>T c.(2455-2457)CGC>CTC p.R819L KIAA0664_uc002fux.1_Missense_Mutation_p.R752L|KIAA0664_uc010ckc.1_5'Flank NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 819 binding breast(2) 2 CTTGGCCGAGCGGGTGATGAG 0.627 16 90 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577097 7577097 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:7577097C>A uc002gim.2 - 8 1035 c.841G>T c.(841-843)GAC>TAC p.D281Y TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149Y|TP53_uc010cng.1_Missense_Mutation_p.D149Y|TP53_uc002gii.1_Missense_Mutation_p.D149Y|TP53_uc010cnh.1_Missense_Mutation_p.D281Y|TP53_uc010cni.1_Missense_Mutation_p.D281Y|TP53_uc002gij.2_Missense_Mutation_p.D281Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 281 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (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.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(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) GTGCGCCGGTCTCTCCCAGGA 0.547 111 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) 4 35 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10408585 10408585 + Missense_Mutation SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:10408585A>G uc002gmo.2 - 21 2424 c.2330T>C c.(2329-2331)CTA>CCA p.L777P uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 777 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CATCTCCTCTAGGAGCCCCAG 0.473 17 50 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656471 12656471 + Missense_Mutation SNP T A A rs113274254 byFrequency TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:12656471T>A uc002gnn.2 + 10 2165 c.1866T>A c.(1864-1866)AAT>AAA p.N622K MYOCD_uc002gno.2_Missense_Mutation_p.N622K|MYOCD_uc002gnp.1_Missense_Mutation_p.N526K|MYOCD_uc002gnq.2_Missense_Mutation_p.N341K NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 622 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATCAAACCAATGTACTTTCTT 0.537 37 143 --- --- --- --- PASS PSMD3 5709 broad.mit.edu 37 17 38142893 38142893 + Silent SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:38142893C>G uc002htn.1 + 3 641 c.477C>G c.(475-477)CTC>CTG p.L159L PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.L60L NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 159 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) CGACACCCCTCCTGCCTGAAG 0.527 27 167 --- --- --- --- PASS MED24 9862 broad.mit.edu 37 17 38179470 38179470 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:38179470C>A uc002htt.2 - 20 2477 c.2164G>T c.(2164-2166)GGC>TGC p.G722C MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Missense_Mutation_p.G57C|MED24_uc010wes.1_Missense_Mutation_p.G582C|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.G747C|MED24_uc002htu.2_Missense_Mutation_p.G709C|MED24_uc010cwn.2_Missense_Mutation_p.G709C|MED24_uc010weu.1_Missense_Mutation_p.G632C|MED24_uc010wev.1_Missense_Mutation_p.G672C|MED24_uc010wew.1_Missense_Mutation_p.G663C NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 722 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) TCCACCCAGCCCTTCTCCAGC 0.587 7 43 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42337271 42337271 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:42337271C>A uc002igf.3 - 7 664 c.515G>T c.(514-516)GGT>GTT p.G172V SLC4A1_uc002igg.3_Missense_Mutation_p.G172V NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 172 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AGGCTTCACACCCCCCAGGGC 0.602 13 85 --- --- --- --- PASS IGF2BP1 10642 broad.mit.edu 37 17 47122358 47122358 + Silent SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:47122358A>T uc002iom.2 + 12 1660 c.1326A>T c.(1324-1326)GCA>GCT p.A442A IGF2BP1_uc010dbj.2_Silent_p.A303A NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 442 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 TTTAGATTGCACCACCCGAAA 0.483 18 127 --- --- --- --- PASS USP32 84669 broad.mit.edu 37 17 58257998 58257998 + Missense_Mutation SNP A G G rs1142734 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:58257998A>G uc002iyo.1 - 33 4835 c.4549T>C c.(4549-4551)TGC>CGC p.C1517R USP32_uc002iyn.1_Missense_Mutation_p.C1187R NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1517 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CCTGAATGGCACTGTAAGAGA 0.443 4 89 --- --- --- --- PASS EVPL 2125 broad.mit.edu 37 17 74011538 74011538 + Missense_Mutation SNP C G G rs149246710 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr17:74011538C>G uc002jqi.2 - 15 2110 c.1882G>C c.(1882-1884)GGG>CGG p.G628R EVPL_uc010wss.1_Missense_Mutation_p.G650R|EVPL_uc010wst.1_Missense_Mutation_p.G98R NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 628 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 CACTTCTCCCCGTAGAGGCTG 0.667 14 67 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43217030 43217030 + Silent SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr18:43217030T>C uc010dnj.2 + 7 1047 c.726T>C c.(724-726)ATT>ATC p.I242I SLC14A2_uc002lbb.2_Silent_p.I242I|SLC14A2_uc002lbe.2_Silent_p.I242I NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 242 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CCTTCAACATTGCAGTCACCT 0.517 31 187 --- --- --- --- PASS MALT1 10892 broad.mit.edu 37 18 56348415 56348415 + Nonsense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr18:56348415G>T uc002lhm.1 + 2 481 c.223G>T c.(223-225)GAG>TAG p.E75* MALT1_uc002lhn.1_Nonsense_Mutation_p.E75* NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 75 Death. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 CCTAGACCTGGAGCAGTGTTC 0.468 T BIRC3 MALT 12 134 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67794916 67794916 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr18:67794916C>A uc002lkp.2 - 25 3273 c.3205G>T c.(3205-3207)GCT>TCT p.A1069S RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A157S NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1069 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) AGCCCACTAGCCATGTGTGTT 0.428 11 75 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67794917 67794917 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr18:67794917C>A uc002lkp.2 - 25 3272 c.3204G>T c.(3202-3204)ATG>ATT p.M1068I RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.M156I NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1068 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) GCCCACTAGCCATGTGTGTTA 0.428 12 74 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70417577 70417577 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr18:70417577G>T uc002lkw.2 - 9 1545 c.1261C>A c.(1261-1263)CGG>AGG p.R421R NETO1_uc002lkx.1_Silent_p.R420R|NETO1_uc002lky.1_Silent_p.R421R NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 421 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GATGACCTCCGCAGTTTATGG 0.458 6 47 --- --- --- --- PASS ZNF442 79973 broad.mit.edu 37 19 12461632 12461632 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:12461632T>C uc002mtr.1 - 6 1378 c.767A>G c.(766-768)GAA>GGA p.E256G ZNF442_uc010xmk.1_Missense_Mutation_p.E187G NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 256 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 GTGTGTTCTTTCATGTCTTAG 0.403 39 181 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13470527 13470527 + Missense_Mutation SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:13470527A>G uc010dze.2 - 6 1107 c.871T>C c.(871-873)TGG>CGG p.W291R CACNA1A_uc002mwy.3_Missense_Mutation_p.W291R NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 291 I.|Extracellular (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGCCCTTCCCAGTAGGGCTGA 0.547 5 11 --- --- --- --- PASS MAST3 23031 broad.mit.edu 37 19 18233561 18233561 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:18233561G>A uc002nhz.3 + 5 312 c.312G>A c.(310-312)TCG>TCA p.S104S NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 104 Poly-Ser. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 CCACCCTCTCGGTACCCATAG 0.547 4 18 --- --- --- --- PASS PIK3R2 5296 broad.mit.edu 37 19 18277949 18277949 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:18277949G>T uc002nia.1 + 13 2081 c.1569G>T c.(1567-1569)CTG>CTT p.L523L PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 523 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 GGATCCTGCTGAACTCCGAGC 0.478 3 37 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:20807460T>C uc002npb.1 - 4 1373 c.1223A>G c.(1222-1224)TAC>TGC p.Y408C ZNF626_uc002npc.1_Missense_Mutation_p.Y332C NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 408 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GTTAGAGGAGTACTTAAAAGC 0.408 3 103 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363491 22363491 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:22363491C>G uc002nqs.1 - 3 1346 c.1028G>C c.(1027-1029)GGG>GCG p.G343A NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 343 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAAGCTTTCCCGCATTCTTC 0.408 11 92 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934833 30934833 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:30934833G>T uc002nsu.1 + 2 502 c.364G>T c.(364-366)GAC>TAC p.D122Y ZNF536_uc010edd.1_Missense_Mutation_p.D122Y NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGACATCGAGGACGACGCCCG 0.642 7 20 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31040279 31040279 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:31040279G>A uc002nsu.1 + 4 3891 c.3753G>A c.(3751-3753)CCG>CCA p.P1251P ZNF536_uc010edd.1_Silent_p.P1251P NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGCCAAAGCCGGAGCGGGGGC 0.607 7 33 --- --- --- --- PASS DMKN 93099 broad.mit.edu 37 19 36004032 36004032 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:36004032G>T uc002nzm.3 - 1 529 c.346C>A c.(346-348)CAG>AAG p.Q116K DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.Q116K|DMKN_uc002nzn.3_Missense_Mutation_p.Q116K|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.Q116K|DMKN_uc010eeb.2_Missense_Mutation_p.Q116K|DMKN_uc002oaa.3_Missense_Mutation_p.Q116K|DMKN_uc002oab.3_Missense_Mutation_p.Q116K NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN dermokine isoform 2 precursor 116 Gly-rich. extracellular region large_intestine(1)|ovary(1)|skin(1) 3 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCTTCTGCCTGTCTGCCAATC 0.617 8 52 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36050049 36050049 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:36050049G>A uc002oal.1 - 8 1130 c.1101C>T c.(1099-1101)TGC>TGT p.C367C ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 367 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCTTGACCACGCAGTTCTTAC 0.617 24 205 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37129641 37129641 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:37129641G>C uc002oem.2 - 6 1834 c.1606C>G c.(1606-1608)CAA>GAA p.Q536E ZNF461_uc002oen.2_Missense_Mutation_p.Q505E|ZNF461_uc010xtj.1_Missense_Mutation_p.Q513E NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 536 C2H2-type 12; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAGTTAAGTTGTAATCTATGA 0.428 8 54 --- --- --- --- PASS EID2 163126 broad.mit.edu 37 19 40030304 40030304 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:40030304T>A uc002oma.2 - 1 535 c.416A>T c.(415-417)TAT>TTT p.Y139F NM_153232 NP_694964 Q8N6I1 EID2_HUMAN CREBBP/EP300 inhibitor 2 139 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GAGACGGAGATAGGGCAACGC 0.607 21 134 --- --- --- --- PASS CEACAM5 1048 broad.mit.edu 37 19 42219050 42219050 + Silent SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:42219050T>C uc002ork.2 + 3 706 c.585T>C c.(583-585)AAT>AAC p.N195N CEACAM5_uc010ehz.1_Silent_p.N195N|CEACAM5_uc002orj.1_Silent_p.N195N|CEACAM5_uc002orl.2_Silent_p.N195N NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 195 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AGCTGTCCAATGGCAACAGGA 0.532 25 202 --- --- --- --- PASS PSG4 5672 broad.mit.edu 37 19 43698611 43698611 + Nonsense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:43698611G>C uc002ovy.2 - 5 1226 c.1124C>G c.(1123-1125)TCA>TGA p.S375* PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Nonsense_Mutation_p.S282*|PSG4_uc002ovz.2_Nonsense_Mutation_p.S282* NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 375 Ig-like C2-type 3. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) CTTTTGTCCTGATAGCTGAAA 0.463 39 271 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48619186 48619186 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:48619186G>A uc002pia.1 - 27 2740 c.2620C>T c.(2620-2622)CGG>TGG p.R874W LIG1_uc010xze.1_Missense_Mutation_p.R567W|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R806W|LIG1_uc010xzg.1_Missense_Mutation_p.R843W NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 874 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CGAATAAACCGAGGGAAGCGA 0.652 NER 3 31 --- --- --- --- PASS ZNF320 162967 broad.mit.edu 37 19 53384206 53384206 + Silent SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:53384206G>C uc002qag.2 - 4 1364 c.1173C>G c.(1171-1173)GGC>GGG p.G391G ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.G337G|ZNF320_uc002qai.2_Silent_p.G391G NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 391 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TAAAAACCTTGCCACATTCAT 0.398 13 98 --- --- --- --- PASS RPS9 6203 broad.mit.edu 37 19 54711428 54711428 + Silent SNP C T T rs142681896 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:54711428C>T uc002qdx.2 + 5 626 c.570C>T c.(568-570)GAC>GAT p.D190D RPS9_uc002qdy.2_3'UTR|RPS9_uc002qdz.2_Silent_p.D190D|RPS9_uc002qea.2_Silent_p.D190D|RPS9_uc002qeb.2_3'UTR|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_3'UTR NM_001013 NP_001004 P46781 RS9_HUMAN ribosomal protein S9 190 endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity breast(1) 1 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.18) CTGGAGACGACGAGGAGGAGG 0.602 4 18 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54849409 54849409 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:54849409C>T uc002qfj.2 - 4 510 c.453G>A c.(451-453)AGG>AGA p.R151R LILRA4_uc002qfi.2_Silent_p.R85R NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 151 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCAGAGTGAACCTGCCCAGTC 0.612 8 59 --- --- --- --- PASS ZNF71 58491 broad.mit.edu 37 19 57133945 57133945 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr19:57133945G>T uc002qnm.3 + 3 1528 c.1290G>T c.(1288-1290)CGG>CGT p.R430R NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 430 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) AGCACCAGCGGATCCACACCG 0.637 7 59 --- --- --- --- PASS TRMT6 51605 broad.mit.edu 37 20 5922668 5922668 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr20:5922668C>G uc002wmh.1 - 8 1163 c.1041G>C c.(1039-1041)CAG>CAC p.Q347H TRMT6_uc010zra.1_Missense_Mutation_p.Q177H|TRMT6_uc010gbn.1_3'UTR NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 347 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity pancreas(1) 1 CTTGTCTCCTCTGTTTTTCCT 0.423 35 180 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21689949 21689949 + Silent SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr20:21689949C>A uc002wsj.2 + 4 1203 c.1149C>A c.(1147-1149)GGC>GGA p.G383G PAX1_uc010zsl.1_Silent_p.G383G|PAX1_uc010zsm.1_Silent_p.G359G NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 383 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding p.A383A(1) upper_aerodigestive_tract(1)|kidney(1) 2 GCGCCCCGGGCGGCGGCTACC 0.761 9 49 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31024148 31024148 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr20:31024148C>A uc002wxs.2 + 12 4059 c.3633C>A c.(3631-3633)GAC>GAA p.D1211E ASXL1_uc010geb.2_Missense_Mutation_p.D1102E NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1211 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 CAAGTTTTGACTCCCTCCATC 0.488 F|N|Mis MDS|CMML 3 103 --- --- --- --- PASS CEP250 11190 broad.mit.edu 37 20 34099248 34099248 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr20:34099248C>T uc002xcm.2 + 36 7793 c.7122C>T c.(7120-7122)ATC>ATT p.I2374I CEP250_uc010zve.1_Silent_p.I1742I NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 2374 Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGGACTACATCACCCGCTCAG 0.597 10 44 --- --- --- --- PASS EDN3 1908 broad.mit.edu 37 20 57876615 57876615 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr20:57876615C>T uc002yap.2 + 2 572 c.203C>T c.(202-204)CCG>CTG p.P68L EDN3_uc002yao.1_Missense_Mutation_p.P68L|EDN3_uc002yaq.2_Missense_Mutation_p.P68L|EDN3_uc002yar.2_Missense_Mutation_p.P68L|EDN3_uc002yas.2_Missense_Mutation_p.P68L NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 68 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) ACTGTGGCCCCGACAGCACTG 0.701 11 53 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19716282 19716282 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:19716282G>T uc002ykw.2 - 11 1298 c.1267C>A c.(1267-1269)CTT>ATT p.L423I NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 423 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CAGAAACTAAGGCAAGCTGGC 0.463 28 172 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33370927 33370927 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:33370927G>T uc002yph.2 + 11 1935 c.1575G>T c.(1573-1575)CCG>CCT p.P525P NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 525 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CCGTGCCACCGCCCAGGACCC 0.572 16 80 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37618828 37618828 + Missense_Mutation SNP C T T rs146690528 TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:37618828C>T uc002yvg.2 + 19 4629 c.4550C>T c.(4549-4551)CCG>CTG p.P1517L DOPEY2_uc011aeb.1_Missense_Mutation_p.P1466L|DOPEY2_uc002yvh.2_Missense_Mutation_p.P368L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1517 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GGCATGCATCCGGCCTGGGTG 0.607 10 52 --- --- --- --- PASS TTC3 7267 broad.mit.edu 37 21 38512875 38512875 + Silent SNP C T T rs139032014 byFrequency TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:38512875C>T uc002yvz.2 + 20 1779 c.1674C>T c.(1672-1674)GCC>GCT p.A558A TTC3_uc011aee.1_Silent_p.A248A|TTC3_uc002ywa.2_Silent_p.A558A|TTC3_uc002ywb.2_Silent_p.A558A|TTC3_uc010gnf.2_Silent_p.A323A|TTC3_uc002ywc.2_Silent_p.A248A|TTC3_uc011aed.1_Silent_p.A248A|TTC3_uc010gne.1_Silent_p.A558A NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 558 TPR 3. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TATCTGAAGCCGAAAACCAGT 0.323 20 187 --- --- --- --- PASS RIPK4 54101 broad.mit.edu 37 21 43161931 43161931 + Silent SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:43161931C>A uc002yzn.1 - 8 1470 c.1422G>T c.(1420-1422)CCG>CCT p.P474P NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 474 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.P474P(1) ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CCATGTGCAACGGGGTGGAGC 0.652 21 96 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46021214 46021214 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:46021214G>C uc002zfn.3 + 2 703 c.678G>C c.(676-678)CAG>CAC p.Q226H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 231 30 X 5 AA repeats of C-C-X(3). keratin filament 0 CCTGCCAGCAGGCCTGCTGTG 0.657 5 193 --- --- --- --- PASS LSS 4047 broad.mit.edu 37 21 47633740 47633740 + Missense_Mutation SNP T C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr21:47633740T>C uc002zij.2 - 10 1100 c.1021A>G c.(1021-1023)ACC>GCC p.T341A LSS_uc011afv.1_Missense_Mutation_p.T330A|LSS_uc002zil.2_Missense_Mutation_p.T341A|LSS_uc002zik.2_Missense_Mutation_p.T261A NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 341 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) ATGTTGATGGTTTTCGAGATC 0.602 5 20 --- --- --- --- PASS MAPK12 6300 broad.mit.edu 37 22 50694044 50694044 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr22:50694044C>T uc003bkm.1 - 9 922 c.771G>A c.(769-771)GAG>GAA p.E257E MAPK12_uc003bkn.2_Silent_p.E76E|MAPK12_uc003bko.2_Silent_p.E167E|MAPK12_uc003bkl.1_Silent_p.E247E|MAPK12_uc003bkp.2_Silent_p.E42E|MAPK12_uc003bkq.2_Silent_p.E76E NM_002969 NP_002960 P53778 MK12_HUMAN mitogen-activated protein kinase 12 257 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACCCCTTACCTCATCGCTCT 0.622 14 105 --- --- --- --- PASS SBF1 6305 broad.mit.edu 37 22 50885628 50885628 + Silent SNP G A A rs146489206 by1000genomes TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chr22:50885628G>A uc003blh.2 - 41 5820 c.5625C>T c.(5623-5625)GAC>GAT p.D1875D SBF1_uc003ble.2_Silent_p.D339D|SBF1_uc003blf.2_Silent_p.D351D|SBF1_uc011arx.1_Silent_p.D1513D NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1849 PH. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CCGAGGGCACGTCCTGGGCAC 0.677 10 39 --- --- --- --- PASS NR0B1 190 broad.mit.edu 37 X 30327353 30327353 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:30327353C>A uc004dcf.3 - 1 143 c.128G>T c.(127-129)TGC>TTC p.C43F NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 43 4 X 67 AA tandem repeats.|1. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CTCATCGCCGCACGAACAGCC 0.662 4 23 --- --- --- --- PASS ATP6AP2 10159 broad.mit.edu 37 X 40450618 40450618 + Splice_Site SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:40450618G>T uc004det.2 + 3 402 c.300_splice c.e3+1 p.N100_splice ATP6AP2_uc010nhc.2_Splice_Site|ATP6AP2_uc011mkl.1_Splice_Site_p.N24_splice|ATP6AP2_uc011mkm.1_Splice_Site_p.N100_splice|ATP6AP2_uc011mkn.1_Splice_Site_p.N100_splice NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 TTTGGAGAATGTGAGtattta 0.403 8 36 --- --- --- --- PASS SSX5 6758 broad.mit.edu 37 X 48047124 48047124 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:48047124C>A uc004dja.1 - 7 563 c.510G>T c.(508-510)GAG>GAT p.E170D SSX5_uc004diz.1_Missense_Mutation_p.E211D NM_175723 NP_783729 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 isoform b 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 GTTGCTTTCTCTCACGCACTC 0.502 74 440 --- --- --- --- PASS OTUD5 55593 broad.mit.edu 37 X 48801472 48801472 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:48801472C>T uc004dlu.2 - 2 728 c.667G>A c.(667-669)GCC>ACC p.A223T OTUD5_uc004dlt.3_Missense_Mutation_p.A223T|OTUD5_uc004dlv.2_Missense_Mutation_p.A223T|OTUD5_uc011mmp.1_Missense_Mutation_p.A6T NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 223 OTU. negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 AAGAGACAGGCGCCATCCTCC 0.557 4 27 --- --- --- --- PASS KCND1 3750 broad.mit.edu 37 X 48825896 48825896 + Silent SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:48825896C>A uc004dlx.1 - 1 2356 c.783G>T c.(781-783)CGG>CGT p.R261R KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 261 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 TCATGACACTCCGCAGGAAGC 0.577 3 28 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53611204 53611204 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:53611204C>A uc004dsp.2 - 41 5505 c.5103G>T c.(5101-5103)GAG>GAT p.E1701D HUWE1_uc004dsn.2_Missense_Mutation_p.E526D NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1701 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCAGCGTCTTCTCTAGTTCCT 0.413 19 145 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54948716 54948716 + Missense_Mutation SNP C G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:54948716C>G uc004dtq.2 + 2 144 c.37C>G c.(37-39)CTA>GTA p.L13V TRO_uc011moj.1_Intron|TRO_uc004dts.2_Missense_Mutation_p.L13V|TRO_uc004dtr.2_Missense_Mutation_p.L13V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.L13V|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Missense_Mutation_p.L13V|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 13 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TAGGGTGCCTCTATTTCAGGT 0.507 10 29 --- --- --- --- PASS EFNB1 1947 broad.mit.edu 37 X 68060180 68060180 + Missense_Mutation SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:68060180G>A uc004dxd.3 + 5 1504 c.724G>A c.(724-726)GCG>ACG p.A242T EFNB1_uc004dxe.2_Missense_Mutation_p.A242T NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 242 Helical; (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 GGCATTGTTCGCGGCTGTCGG 0.582 5 44 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72433953 72433953 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:72433953C>T uc004ebi.2 - 1 732 c.376G>A c.(376-378)GAA>AAA p.E126K NAP1L2_uc011mqj.1_5'UTR NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 126 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) AATTTGGATTCTAAATTGGCC 0.373 13 132 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73960441 73960441 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:73960441G>T uc004eby.2 - 3 4568 c.3951C>A c.(3949-3951)TCC>TCA p.S1317S NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1317 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 ACAAGATATAGGAAGGCTCCT 0.537 31 130 --- --- --- --- PASS ZDHHC15 158866 broad.mit.edu 37 X 74649009 74649009 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:74649009G>T uc004ecg.2 - 7 985 c.507C>A c.(505-507)TCC>TCA p.S169S ZDHHC15_uc004ech.2_Silent_p.S160S|ZDHHC15_uc011mqo.1_Intron NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 169 DHHC-type. integral to membrane zinc ion binding ovary(2) 2 ATTTGTAGTTGGAAAATCCAA 0.353 6 48 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83352800 83352800 + Silent SNP A G G TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:83352800A>G uc004eej.1 - 19 1910 c.1833T>C c.(1831-1833)CTT>CTC p.L611L RPS6KA6_uc011mqt.1_Silent_p.L611L|RPS6KA6_uc011mqu.1_Silent_p.L508L NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 611 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TTGTGTAAAAAAGGACTCCTA 0.308 43 257 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91132779 91132779 + Missense_Mutation SNP A T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:91132779A>T uc004efk.1 + 2 2385 c.1540A>T c.(1540-1542)AGC>TGC p.S514C PCDH11X_uc004efl.1_Missense_Mutation_p.S514C|PCDH11X_uc004efo.1_Missense_Mutation_p.S514C|PCDH11X_uc010nmv.1_Missense_Mutation_p.S514C|PCDH11X_uc004efm.1_Missense_Mutation_p.S514C|PCDH11X_uc004efn.1_Missense_Mutation_p.S514C|PCDH11X_uc004efh.1_Missense_Mutation_p.S514C|PCDH11X_uc004efj.1_Missense_Mutation_p.S514C NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 514 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ACCTGAATTCAGCCTGGATTG 0.438 8 59 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99662031 99662031 + Missense_Mutation SNP T A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:99662031T>A uc010nmz.2 - 1 3241 c.1565A>T c.(1564-1566)AAC>ATC p.N522I PCDH19_uc004efw.3_Missense_Mutation_p.N522I|PCDH19_uc004efx.3_Missense_Mutation_p.N522I NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 522 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CTGCTCGTGGTTAAAGGATCG 0.582 19 159 --- --- --- --- PASS RAB40AL 282808 broad.mit.edu 37 X 102192749 102192749 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:102192749C>T uc004ejs.2 + 1 550 c.503C>T c.(502-504)ACG>ATG p.T168M NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 168 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding ovary(2) 2 GAGTCTTTCACGGAGCTGGCC 0.612 8 39 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105187985 105187985 + Silent SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:105187985C>T uc004emd.2 + 24 4314 c.4011C>T c.(4009-4011)CAC>CAT p.H1337H NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1337 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CATCAATTCACCTTTATGCAT 0.318 HNSCC(51;0.14) 3 21 --- --- --- --- PASS ANKRD58 347454 broad.mit.edu 37 X 118893503 118893503 + Missense_Mutation SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:118893503G>T uc010nql.2 + 1 928 c.873G>T c.(871-873)AAG>AAT p.K291N NM_001105576 NP_001099046 A6NJG2 ANR58_HUMAN ankyrin repeat domain 58 291 0 CCAAGGCGAAGGACACCGCGG 0.647 7 40 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129055540 129055540 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:129055540C>A uc004euz.2 + 11 1353 c.1325C>A c.(1324-1326)CCA>CAA p.P442Q UTP14A_uc011mup.1_Missense_Mutation_p.P390Q|UTP14A_uc011muq.1_Missense_Mutation_p.P388Q|UTP14A_uc004eva.1_Missense_Mutation_p.P148Q NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 442 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 GATGCTGAGCCAGCAGGCAGT 0.438 4 58 --- --- --- --- PASS ZIC3 7547 broad.mit.edu 37 X 136648937 136648937 + Missense_Mutation SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:136648937C>A uc004fak.2 + 1 592 c.87C>A c.(85-87)AAC>AAA p.N29K NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 29 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGATGCCCAACCGTGAGCCGG 0.577 4 12 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142718580 142718580 + Silent SNP G A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:142718580G>A uc004fbx.2 - 2 721 c.345C>T c.(343-345)AAC>AAT p.N115N SLITRK4_uc004fby.2_Silent_p.N115N NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 115 Extracellular (Potential).|LRR 3. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) ATTCATTGTTGTTCAAGTGCA 0.423 18 116 --- --- --- --- PASS SPANXN1 494118 broad.mit.edu 37 X 144329162 144329162 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:144329162C>T uc004fcb.2 + 1 56 c.56C>T c.(55-57)TCC>TTC p.S19F NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 19 0 Acute lymphoblastic leukemia(192;6.56e-05) CCCTGTGAATCCAACAATGAA 0.274 18 151 --- --- --- --- PASS MAGEA11 4110 broad.mit.edu 37 X 148797858 148797858 + Silent SNP C A A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:148797858C>A uc004fdq.2 + 5 814 c.712C>A c.(712-714)CGA>AGA p.R238R HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.R209R NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 238 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCGCAAGTATCGAGTCAAGGG 0.433 32 183 --- --- --- --- PASS CD99L2 83692 broad.mit.edu 37 X 149963707 149963707 + Silent SNP G T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:149963707G>T uc004fel.2 - 6 520 c.402C>A c.(400-402)GGC>GGA p.G134G CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Silent_p.G85G|CD99L2_uc004fen.2_Silent_p.G62G|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 134 Extracellular (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTTTCCTGCGGCCATCATCTC 0.473 11 189 --- --- --- --- PASS PRRG3 79057 broad.mit.edu 37 X 150868563 150868563 + Missense_Mutation SNP G C C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:150868563G>C uc004few.1 + 3 493 c.103G>C c.(103-105)GAG>CAG p.E35Q NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 35 Gla.|Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CATCGAGCGAGAGTGCATGGA 0.562 13 94 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151869605 151869605 + Missense_Mutation SNP C T T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:151869605C>T uc004ffq.1 + 3 489 c.295C>T c.(295-297)CCT>TCT p.P99S MAGEA6_uc004ffr.1_Missense_Mutation_p.P99S|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 99 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGCACCTTCCCTGACCTGGA 0.557 19 152 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73043145 73043145 + RNA DEL T - - TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f32fff2f-0bbf-475f-b088-3f1699203c31 0cfe040a-6fc3-4add-8222-527cccfed139 g.chrX:73043145delT uc004ebn.2 + 1 c.31106delT XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 tttttctttcttttttttttt 0.338 3 4 --- --- --- ---