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 DVL1 1855 broad.mit.edu 37 1 1274966 1274966 + Silent SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:1274966T>C uc001aer.3 - 10 1097 c.1050A>G c.(1048-1050)CCA>CCG p.P350P DVL1_uc002quu.2_Silent_p.P67P|DVL1_uc009vka.2_Silent_p.P33P|DVL1_uc001aeu.1_Missense_Mutation_p.H37R NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 350 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACTCACCCCGTGGGACGGTGA 0.687 7 14 --- --- --- --- PASS AJAP1 55966 broad.mit.edu 37 1 4772101 4772101 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:4772101G>A uc001alm.1 + 2 552 c.171G>A c.(169-171)CCG>CCA p.P57P AJAP1_uc001aln.2_Silent_p.P57P NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 57 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) cgcggtcgccgccccggccgc 0.592 20 30 --- --- --- --- PASS GPR153 387509 broad.mit.edu 37 1 6311556 6311556 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:6311556G>A uc001amp.1 - 4 1081 c.821C>T c.(820-822)TCA>TTA p.S274L GPR153_uc001amo.1_5'Flank NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 274 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) CCAGGGCGCTGAGGCGTCGGC 0.697 22 34 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17271961 17271961 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:17271961A>G uc001azt.2 + 15 2065 c.1996A>G c.(1996-1998)AGA>GGA p.R666G CROCC_uc009voz.1_Missense_Mutation_p.R429G|CROCC_uc001azu.2_Translation_Start_Site NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 666 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCACAGCCATAGACAACTAGA 0.642 7 43 --- --- --- --- PASS KLHDC7A 127707 broad.mit.edu 37 1 18808885 18808885 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:18808885C>G uc001bax.2 + 1 1462 c.1410C>G c.(1408-1410)GAC>GAG p.D470E KLHDC7A_uc009vpg.2_Missense_Mutation_p.D252E NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 470 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCCCGGACATCTACGGGT 0.657 60 98 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22913059 22913059 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:22913059G>A uc001bfx.1 + 4 1035 c.910G>A c.(910-912)GCC>ACC p.A304T EPHA8_uc001bfw.2_Missense_Mutation_p.A304T NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 304 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGCTCCAGCCGCCCAAGCCTG 0.657 5 69 --- --- --- --- PASS RHCE 6006 broad.mit.edu 37 1 25717382 25717382 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:25717382C>A uc001bkf.2 - 5 745 c.659G>T c.(658-660)TGG>TTG p.W220L RHCE_uc001bkg.2_Missense_Mutation_p.W220L|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.W204L NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 220 Helical; (Potential). integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GACACTTGGCCAGAACATCCA 0.537 123 254 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39818716 39818716 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:39818716A>G uc010oiu.1 + 8 6688 c.6557A>G c.(6556-6558)AAG>AGG p.K2186R MACF1_uc010ois.1_Missense_Mutation_p.K1684R|MACF1_uc001cda.1_Missense_Mutation_p.K1592R|MACF1_uc001cdc.1_Missense_Mutation_p.K771R|MACF1_uc001cdb.1_Missense_Mutation_p.K771R NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3751 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACAAGAAGAAGATCGATGCT 0.488 56 91 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42041309 42041309 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:42041309C>A uc001cgz.3 - 5 6326 c.5113G>T c.(5113-5115)GTG>TTG p.V1705L HIVEP3_uc001cha.3_Missense_Mutation_p.V1705L|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1705 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TCCTTCTCCACTCTAGCTAGA 0.552 104 212 --- --- --- --- PASS MYSM1 114803 broad.mit.edu 37 1 59147875 59147875 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:59147875G>C uc009wab.1 - 8 864 c.841C>G c.(841-843)CAA>GAA p.Q281E MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 281 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TTTTCATTTTGAAGACAGCCC 0.368 26 552 --- --- --- --- PASS ANGPTL3 27329 broad.mit.edu 37 1 63066783 63066783 + Nonsense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:63066783G>T uc001das.1 + 3 688 c.637G>T c.(637-639)GAA>TAA p.E213* DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron NM_014495 NP_055310 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 precursor 213 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity 0 AGAACCCACAGAAATTTCTCT 0.338 54 98 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67142743 67142743 + Nonsense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:67142743G>T uc001dcr.2 + 13 920 c.703G>T c.(703-705)GAG>TAG p.E235* SGIP1_uc010opd.1_Nonsense_Mutation_p.E2*|SGIP1_uc001dcs.2_Nonsense_Mutation_p.E2*|SGIP1_uc001dct.2_Nonsense_Mutation_p.E2*|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Nonsense_Mutation_p.E2* NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 235 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TCCAAGCATGGAGTCGCCAAA 0.398 107 185 --- --- --- --- PASS MIER1 57708 broad.mit.edu 37 1 67411870 67411870 + Silent SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:67411870A>T uc001dde.2 + 4 365 c.231A>T c.(229-231)CCA>CCT p.P77P MIER1_uc001dda.3_Missense_Mutation_p.H102L|MIER1_uc010opf.1_Silent_p.P41P|MIER1_uc009way.2_Silent_p.P41P|MIER1_uc001ddc.2_Silent_p.P77P|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Silent_p.P41P|MIER1_uc001ddg.2_5'UTR|MIER1_uc010opg.1_Silent_p.P41P|MIER1_uc001ddj.1_Silent_p.P24P|MIER1_uc001ddi.2_Silent_p.P24P NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 48 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.P24P(1) ovary(1) 1 AATTTGATCCATCAGCTGACA 0.343 116 201 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70504563 70504563 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:70504563C>A uc001dep.2 + 19 2972 c.2942C>A c.(2941-2943)CCG>CAG p.P981Q LRRC7_uc009wbg.2_Missense_Mutation_p.P265Q|LRRC7_uc001deq.2_Missense_Mutation_p.P222Q NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 981 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CACGAACGACCGGATAAGATG 0.453 45 97 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75672357 75672357 + Missense_Mutation SNP C G G rs78856933 byFrequency TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:75672357C>G uc001dgu.2 - 24 2239 c.2095G>C c.(2095-2097)GTA>CTA p.V699L SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Missense_Mutation_p.V693L|SLC44A5_uc010orb.1_Missense_Mutation_p.V569L NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 699 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TTAGGGGTTACGAAGTAGGGT 0.413 164 376 --- --- --- --- PASS ST6GALNAC5 81849 broad.mit.edu 37 1 77510188 77510188 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:77510188C>A uc001dhi.2 + 3 736 c.561C>A c.(559-561)AAC>AAA p.N187K ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 187 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 AGGTCTACAACAACCTGCATC 0.597 84 157 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77763405 77763405 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:77763405G>T uc001dhn.2 + 4 834 c.577G>T c.(577-579)GCC>TCC p.A193S AK5_uc001dho.2_Missense_Mutation_p.A167S|AK5_uc001dhm.1_Missense_Mutation_p.A169S NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 193 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TGGAGAATTGGCCCCACAGGT 0.353 82 158 --- --- --- --- PASS NEXN 91624 broad.mit.edu 37 1 78392291 78392291 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:78392291G>T uc001dic.3 + 7 979 c.682G>T c.(682-684)GTT>TTT p.V228F NEXN_uc001dia.3_Missense_Mutation_p.V214F|NEXN_uc009wcb.1_Missense_Mutation_p.V150F|NEXN_uc001dib.3_Missense_Mutation_p.V164F|NEXN_uc001did.1_Missense_Mutation_p.V138F|NEXN_uc001dif.1_Missense_Mutation_p.V120F NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 228 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) TCTTTCATTAGTTATGGTAAA 0.333 11 221 --- --- --- --- PASS CTBS 1486 broad.mit.edu 37 1 85028993 85028993 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:85028993T>G uc001dka.2 - 6 969 c.904A>C c.(904-906)ATT>CTT p.I302L SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.I211L|CTBS_uc001dkd.2_Missense_Mutation_p.I96L|CTBS_uc001dkb.2_Missense_Mutation_p.I96L NM_004388 NP_004379 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- precursor 302 lysosome cation binding 0 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) TTTCCAGAAATAGAACTATTT 0.393 37 59 --- --- --- --- PASS SLC30A7 148867 broad.mit.edu 37 1 101377756 101377756 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:101377756T>G uc001dtn.2 + 5 660 c.473T>G c.(472-474)GTT>GGT p.V158G SLC30A7_uc001dto.2_Missense_Mutation_p.V158G NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 158 Helical; (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) GGAATATTTGTTTTCAAACAT 0.388 288 538 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103345240 103345240 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:103345240G>T uc001dul.2 - 66 5591 c.5273C>A c.(5272-5274)GCG>GAG p.A1758E COL11A1_uc001duk.2_Missense_Mutation_p.A954E|COL11A1_uc001dum.2_Missense_Mutation_p.A1770E|COL11A1_uc001dun.2_Missense_Mutation_p.A1719E|COL11A1_uc009weh.2_Missense_Mutation_p.A1642E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1758 Fibrillar collagen NC1. A -> T (in Ref. 1; AAA51891). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.A1770V(1) ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TATACTCACCGCACAACCATC 0.428 66 128 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103481252 103481252 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:103481252C>A uc001dul.2 - 12 1778 c.1460G>T c.(1459-1461)GGT>GTT p.G487V COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G499V|COL11A1_uc001dun.2_Missense_Mutation_p.G448V|COL11A1_uc009weh.2_Missense_Mutation_p.G371V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 487 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCAGGAGGACCAGGTAGACC 0.353 7 17 --- --- --- --- PASS TMEM167B 56900 broad.mit.edu 37 1 109637043 109637043 + Silent SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:109637043T>C uc001dwn.2 + 3 239 c.147T>C c.(145-147)GCT>GCC p.A49A TMEM167B_uc009weu.2_RNA NM_020141 NP_064526 Q9NRX6 KISHB_HUMAN transmembrane protein 167B precursor 49 Extracellular (Potential). Golgi membrane|integral to membrane 0 TGCTAGCCGCTGTGATTGGAA 0.453 10 270 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117561007 117561007 + Silent SNP G T T rs79996128 by1000genomes TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:117561007G>T uc010oxb.1 + 6 1900 c.1842G>T c.(1840-1842)ACG>ACT p.T614T CD101_uc009whd.2_Silent_p.T614T|CD101_uc010oxc.1_Silent_p.T614T|CD101_uc010oxd.1_Silent_p.T552T NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 614 Extracellular (Potential).|Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AAAAGAAGACGAAAGTGTCGC 0.453 4 401 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144917580 144917580 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:144917580C>G uc001elw.3 - 12 1815 c.1524G>C c.(1522-1524)CAG>CAC p.Q508H NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q574H|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q508H|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q508H|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q671H|PDE4DIP_uc001eme.1_Missense_Mutation_p.Q37H|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q295H NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 508 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAAGACGAAGCTGGCGCAGTT 0.438 T PDGFRB MPD 185 723 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145534931 145534931 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:145534931G>A uc001eoa.2 + 15 1910 c.1834G>A c.(1834-1836)GGC>AGC p.G612S NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.G481S|ITGA10_uc009wiw.2_Missense_Mutation_p.G469S|ITGA10_uc010oyw.1_Missense_Mutation_p.G557S NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 612 Extracellular (Potential).|FG-GAP 7. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGCTACTTTGGCCGAAGTGT 0.582 93 195 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152191689 152191689 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:152191689G>A uc001ezt.1 - 3 2492 c.2416C>T c.(2416-2418)CAT>TAT p.H806Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 806 8. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTCATAATGGCCACAGCTG 0.582 29 75 --- --- --- --- PASS CD1B 910 broad.mit.edu 37 1 158300604 158300604 + Missense_Mutation SNP C G G rs62642468 byFrequency TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:158300604C>G uc001frx.2 - 2 418 c.310G>C c.(310-312)GGT>CGT p.G104R CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.G104R NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 104 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) TGGAAATCACCGGCAAAGTCT 0.433 9 777 --- --- --- --- PASS RGS5 8490 broad.mit.edu 37 1 163117134 163117134 + Nonstop_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:163117134A>G uc001gcn.2 - 5 791 c.544T>C c.(544-546)TAG>CAG p.*182Q RGS5_uc009wvb.2_RNA NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 182 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) CTAAATTACTACTTGATTAAC 0.428 68 100 --- --- --- --- PASS RXRG 6258 broad.mit.edu 37 1 165386447 165386447 + Nonsense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:165386447G>T uc001gda.2 - 4 753 c.453C>A c.(451-453)TAC>TAA p.Y151* NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 151 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGTATACCCCGTAGTGCTTTC 0.428 151 214 --- --- --- --- PASS GPA33 10223 broad.mit.edu 37 1 167038337 167038337 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:167038337G>A uc001gea.1 - 3 581 c.237C>T c.(235-237)TAC>TAT p.Y79Y NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 79 Ig-like V-type.|Extracellular (Potential). integral to plasma membrane receptor activity 0 CACCATGGATGTAGTTTTTGT 0.507 41 96 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175324640 175324640 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:175324640T>G uc001gkp.1 - 15 3329 c.3248A>C c.(3247-3249)AAG>ACG p.K1083T TNR_uc009wwu.1_Missense_Mutation_p.K1083T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1083 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AAATCTCACCTTGCGGCTTCC 0.502 74 131 --- --- --- --- PASS DHX9 1660 broad.mit.edu 37 1 182846038 182846038 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:182846038A>G uc001gpr.2 + 19 2361 c.2198A>G c.(2197-2199)AAG>AGG p.K733R DHX9_uc001gps.2_Missense_Mutation_p.K519R|DHX9_uc001gpt.2_5'Flank NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 733 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 GACTCCTGCAAGTAAGTTACT 0.348 44 83 --- --- --- --- PASS CDC73 79577 broad.mit.edu 37 1 193172942 193172942 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:193172942G>T uc001gtb.2 + 11 1233 c.990G>T c.(988-990)CGG>CGT p.R330R NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 330 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 CATCTGCCCGGAAGACTCAGA 0.343 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 23 111 --- --- --- --- PASS CFHR3 10878 broad.mit.edu 37 1 196748446 196748446 + Silent SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:196748446T>C uc001gtl.2 + 2 300 c.213T>C c.(211-213)CAT>CAC p.H71H CFHR3_uc001gtk.2_Silent_p.H71H|CFHR3_uc010poy.1_Silent_p.H71H|CFHR1_uc001gtm.2_Silent_p.H34H NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 71 Sushi 1. extracellular space 0 ATTACATTCATTGCACACAAA 0.383 116 164 --- --- --- --- PASS LAMB3 3914 broad.mit.edu 37 1 209791299 209791299 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:209791299G>T uc001hhg.2 - 19 3394 c.3004C>A c.(3004-3006)CAA>AAA p.Q1002K LAMB3_uc009xco.2_Missense_Mutation_p.Q1002K|LAMB3_uc001hhh.2_Missense_Mutation_p.Q1002K NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 1002 Domain I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTGGTGCCTTGCATGGTGTCC 0.587 39 68 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214171384 214171384 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:214171384C>T uc001hkh.2 + 2 1778 c.1506C>T c.(1504-1506)GGC>GGT p.G502G PROX1_uc001hkg.1_Silent_p.G502G NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 502 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTCCCTCCGGCTCCTTCTCTG 0.562 16 325 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216074145 216074145 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:216074145C>A uc001hku.1 - 39 7790 c.7403G>T c.(7402-7404)AGA>ATA p.R2468I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2468 Extracellular (Potential).|Fibronectin type-III 11. 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) GAGTTGGTATCTGGGAGAGCC 0.502 HNSCC(13;0.011) 96 170 --- --- --- --- PASS SLC35F3 148641 broad.mit.edu 37 1 234445022 234445022 + Silent SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:234445022T>C uc001hwa.1 + 3 805 c.577T>C c.(577-579)TTG>CTG p.L193L SLC35F3_uc001hvy.1_Silent_p.L262L NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 193 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TTTTGTGTTCTTGCTCTCATG 0.428 75 139 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237961380 237961380 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:237961380G>T uc001hyl.1 + 97 14120 c.14000G>T c.(13999-14001)AGT>ATT p.S4667I RYR2_uc010pyb.1_Missense_Mutation_p.S100I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4667 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) GACAGAATCAGTGAATTACTT 0.413 15 34 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875538 247875538 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:247875538T>C uc001idj.1 - 1 520 c.520A>G c.(520-522)ATC>GTC p.I174V NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 174 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) AAGTGGTTGATGGCACGGGGG 0.587 100 198 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129609 248129609 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:248129609T>A uc010pzd.1 + 1 976 c.976T>A c.(976-978)TGT>AGT p.C326S OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 326 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTGGATATGCTGTAGAAAATA 0.378 83 194 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525364 248525364 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:248525364C>A uc001ieh.1 + 1 482 c.482C>A c.(481-483)CCT>CAT p.P161H NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 161 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCTGCCATCCTCTCCGTTAC 0.527 7 561 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1680797 1680797 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:1680797G>A uc002qxa.2 - 8 814 c.750C>T c.(748-750)TCC>TCT p.S250S PXDN_uc002qxb.1_Silent_p.S250S|PXDN_uc002qxc.1_Silent_p.S67S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 250 Ig-like C2-type 1. 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 p.S250S(1) 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) CCTGGGGCTCGGAGGTGATCC 0.517 23 33 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1812863 1812863 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:1812863G>C uc002qxe.2 - 22 3984 c.3157C>G c.(3157-3159)CAG>GAG p.Q1053E MYT1L_uc002qxd.2_Missense_Mutation_p.Q1051E|MYT1L_uc010ewk.2_Missense_Mutation_p.Q49E NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1053 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGGCCCGCTGTTTGATGGTC 0.612 86 141 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1915841 1915841 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:1915841C>A uc002qxe.2 - 12 2487 c.1660G>T c.(1660-1662)GGC>TGC p.G554C MYT1L_uc002qxd.2_Missense_Mutation_p.G552C|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 554 C2HC-type 3. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCCGTGCAGCCCGGAGTGGGG 0.602 16 22 --- --- --- --- PASS CMPK2 129607 broad.mit.edu 37 2 6991813 6991813 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:6991813A>T uc002qyo.2 - 4 1103 c.994T>A c.(994-996)TAC>AAC p.Y332N CMPK2_uc002qyn.1_RNA|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.2_Missense_Mutation_p.Y332N NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN UMP-CMP kinase 2 precursor 332 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTGTGCCAGTACCTGAGAAGG 0.552 32 76 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8871992 8871992 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:8871992C>A uc002qzc.2 - 30 4356 c.4174G>T c.(4174-4176)GCT>TCT p.A1392S KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A1293S|KIDINS220_uc002qzb.2_Missense_Mutation_p.A246S NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1392 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GACATCTGAGCAATGTATTCT 0.458 145 321 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11733133 11733133 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:11733133C>G uc002rbk.1 + 11 1877 c.1577C>G c.(1576-1578)GCC>GGC p.A526G GREB1_uc002rbo.1_Missense_Mutation_p.A160G NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 526 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TACTCCCTGGCCGAGGGCCTC 0.672 5 16 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26699110 26699110 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:26699110G>T uc002rhk.2 - 23 2879 c.2752C>A c.(2752-2754)CTC>ATC p.L918I OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.L171I|OTOF_uc002rhi.2_Missense_Mutation_p.L228I|OTOF_uc002rhj.2_Missense_Mutation_p.L171I NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 918 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTTTGCTGAGGCCCAGCCAC 0.682 28 55 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28828788 28828788 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:28828788G>C uc002rmb.1 + 42 3030 c.3030G>C c.(3028-3030)CAG>CAC p.Q1010H PLB1_uc010ezj.1_Missense_Mutation_p.Q999H|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_RNA NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 1010 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) TCCACTCCCAGCTGGCCAGAG 0.517 217 383 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29294247 29294247 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:29294247G>T uc002rmt.1 - 1 2881 c.2881C>A c.(2881-2883)CAC>AAC p.H961N NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 961 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CCGGAGTGGTGCCAGGCGATG 0.647 4 83 --- --- --- --- PASS FBXO11 80204 broad.mit.edu 37 2 48063100 48063100 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:48063100T>C uc010fbl.2 - 5 490 c.376A>G c.(376-378)ATG>GTG p.M126V FBXO11_uc002rwe.2_Missense_Mutation_p.M126V|FBXO11_uc002rwf.2_Missense_Mutation_p.M126V|FBXO11_uc002rwg.1_Missense_Mutation_p.M126V NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 210 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGATGCATCATAGGGCGAGTA 0.333 43 69 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61607309 61607309 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:61607309T>A uc002sbe.2 - 7 1031 c.1009A>T c.(1009-1011)ATA>TTA p.I337L NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 337 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CTTACTGTTATCTGACTCAAT 0.264 37 61 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63264694 63264694 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:63264694C>A uc002sby.2 + 22 3823 c.3341C>A c.(3340-3342)GCT>GAT p.A1114D EHBP1_uc010fcp.2_Missense_Mutation_p.A1043D|EHBP1_uc002sbz.2_Missense_Mutation_p.A1043D|EHBP1_uc002scb.2_Missense_Mutation_p.A1079D NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 1114 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GAAGAAGAAGCTATGATGCAG 0.323 Hereditary_Prostate_Cancer 5 103 --- --- --- --- PASS ARHGAP25 9938 broad.mit.edu 37 2 69049996 69049996 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:69049996G>C uc002seu.2 + 10 2086 c.1722G>C c.(1720-1722)CAG>CAC p.Q574H ARHGAP25_uc010fdg.2_Missense_Mutation_p.Q575H|ARHGAP25_uc010yql.1_Missense_Mutation_p.Q535H|ARHGAP25_uc002sew.2_Missense_Mutation_p.Q567H|ARHGAP25_uc002sex.2_Missense_Mutation_p.Q568H|ARHGAP25_uc002sey.2_Missense_Mutation_p.Q301H NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 574 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 ATGAGGAACAGATTAAAAAGT 0.428 4 196 --- --- --- --- PASS CLEC4F 165530 broad.mit.edu 37 2 71043874 71043874 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:71043874G>T uc002shf.2 - 4 716 c.639C>A c.(637-639)CAC>CAA p.H213Q CLEC4F_uc010yqv.1_Missense_Mutation_p.H213Q NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 213 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TGCTTAGCACGTGGAGCTCAA 0.428 69 107 --- --- --- --- PASS LOXL3 84695 broad.mit.edu 37 2 74763510 74763510 + Missense_Mutation SNP C T T rs138480120 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:74763510C>T uc002smp.1 - 6 1073 c.1001G>A c.(1000-1002)CGC>CAC p.R334H LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.R334H|LOXL3_uc002smq.1_Missense_Mutation_p.R189H|LOXL3_uc010ffn.1_Missense_Mutation_p.R189H NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 334 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 GTCCCACTTGCGGTCACAGAC 0.647 5 277 --- --- --- --- PASS HK2 3099 broad.mit.edu 37 2 75118043 75118043 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:75118043G>A uc002snd.2 + 18 4655 c.2729G>A c.(2728-2730)CGC>CAC p.R910H NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 910 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GTGGCCTGCCGCATCCGTGAG 0.542 26 38 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79253881 79253881 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:79253881G>A uc002snw.2 + 3 204 c.119G>A c.(118-120)TGT>TAT p.C40Y REG3G_uc002snx.2_Missense_Mutation_p.C40Y|REG3G_uc010ffu.2_Missense_Mutation_p.C40Y NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 40 acute-phase response extracellular region sugar binding 0 CGGATCAGCTGTCCCAAAGGC 0.527 66 97 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80085205 80085205 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:80085205C>T uc010ysh.1 + 3 370 c.365C>T c.(364-366)ACC>ATC p.T122I CTNNA2_uc010yse.1_Missense_Mutation_p.T122I|CTNNA2_uc010ysf.1_Missense_Mutation_p.T122I|CTNNA2_uc010ysg.1_Missense_Mutation_p.T122I NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 122 T -> A (in Ref. 3; BAH12003). axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AAGCGCGGCACCATGGTACGG 0.567 88 151 --- --- --- --- PASS TRIM43 129868 broad.mit.edu 37 2 96260880 96260880 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:96260880C>T uc002suv.2 + 3 630 c.494C>T c.(493-495)GCC>GTC p.A165V NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 165 intracellular zinc ion binding ovary(1) 1 GGAAGAACAGCCTTCCTCTGG 0.388 21 55 --- --- --- --- PASS ADRA2B 151 broad.mit.edu 37 2 96780641 96780641 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:96780641G>C uc002svi.2 - 3 1257 c.1257C>G c.(1255-1257)AGC>AGG p.S419R NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 419 Helical; Name=7; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGTTCAGTGAGCTGTTGCAGT 0.597 3 17 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98928769 98928769 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:98928769C>A uc002syo.2 + 28 4106 c.3842C>A c.(3841-3843)ACC>AAC p.T1281N VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1281 ovary(3)|large_intestine(2)|skin(1) 6 CTCCAAGCCACCCACAGCAGC 0.617 30 67 --- --- --- --- PASS LONRF2 164832 broad.mit.edu 37 2 100906843 100906843 + Silent SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:100906843C>G uc002tal.3 - 10 2437 c.1797G>C c.(1795-1797)GTG>GTC p.V599V LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 599 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 GAAACGTTCTCACGTCCTTAA 0.473 106 219 --- --- --- --- PASS TGFBRAP1 9392 broad.mit.edu 37 2 105900831 105900831 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:105900831G>C uc002tcq.2 - 5 1147 c.1063C>G c.(1063-1065)CAG>GAG p.Q355E TGFBRAP1_uc010fjc.2_Missense_Mutation_p.Q125E|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.Q355E NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 355 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 AATCCCGCCTGCTGCAGAATC 0.453 58 105 --- --- --- --- PASS ANKRD57 65124 broad.mit.edu 37 2 110373346 110373346 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:110373346A>G uc002tfb.2 + 1 1436 c.1280A>G c.(1279-1281)AAA>AGA p.K427R SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN ankyrin repeat domain 57 427 0 ATCACCTACAAACTCTCACAC 0.642 9 140 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112608443 112608443 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:112608443C>A uc002thi.2 - 14 1807 c.1560G>T c.(1558-1560)ACG>ACT p.T520T NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 520 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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 K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 TGTTGGACATCGTCAGAGAGG 0.428 4 200 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116534783 116534783 + Splice_Site SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:116534783G>T uc002tla.1 + 14 1679 c.1222_splice c.e14-1 p.S408_splice DPP10_uc002tlb.1_Splice_Site_p.S358_splice|DPP10_uc002tlc.1_Splice_Site_p.S404_splice|DPP10_uc002tle.2_Splice_Site_p.S412_splice|DPP10_uc002tlf.1_Splice_Site_p.S401_splice NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TTTCTTTGCAGAGTAAAAGTG 0.368 58 73 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119735500 119735500 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:119735500T>G uc002tln.1 + 8 887 c.755T>G c.(754-756)CTG>CGG p.L252R MARCO_uc010yyf.1_Missense_Mutation_p.L174R NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 252 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 AAAGGAGACCTGGGTCTCCCA 0.607 5 23 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125175154 125175154 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:125175154C>A uc002tno.2 + 4 880 c.516C>A c.(514-516)TAC>TAA p.Y172* CNTNAP5_uc010flu.2_Nonsense_Mutation_p.Y172* NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 172 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCGAGGTCTACGGATGTTCCT 0.473 22 24 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125175156 125175156 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:125175156G>A uc002tno.2 + 4 882 c.518G>A c.(517-519)GGA>GAA p.G173E CNTNAP5_uc010flu.2_Missense_Mutation_p.G173E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 173 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GAGGTCTACGGATGTTCCTAT 0.473 23 23 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 131976356 131976356 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:131976356C>A uc002tsn.2 + 1 433 c.381C>A c.(379-381)GCC>GCA p.A127A PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 127 ATP binding 0 ATGACAGCGCCTTCATGGAGC 0.597 124 102 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136575347 136575347 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:136575347G>T uc002tuu.1 - 6 1282 c.1271C>A c.(1270-1272)GCG>GAG p.A424E NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 424 Extracellular (Potential).|4 X approximate repeats.|2. 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) CTCCAGCGTCGCTTGGCCCTC 0.632 57 83 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141215062 141215062 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:141215062G>C uc002tvj.1 - 61 10756 c.9784C>G c.(9784-9786)CAG>GAG p.Q3262E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3262 Extracellular (Potential).|LDL-receptor class B 32. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATACACCTGGATATCTGTG 0.383 TSP Lung(27;0.18) 59 229 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141771249 141771249 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:141771249G>T uc002tvj.1 - 14 3228 c.2256C>A c.(2254-2256)TTC>TTA p.F752L LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 752 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCAGTCCAGAACACATAAT 0.388 TSP Lung(27;0.18) 28 184 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467369 164467369 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:164467369C>A uc002uck.1 - 3 1284 c.973G>T c.(973-975)GGG>TGG p.G325W NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 325 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TCTCCTTGCCCTGCCATGTAG 0.468 138 118 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166231454 166231454 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:166231454G>C uc002udc.2 + 22 4522 c.4232G>C c.(4231-4233)GGA>GCA p.G1411A SCN2A_uc002udd.2_Missense_Mutation_p.G1411A|SCN2A_uc002ude.2_Missense_Mutation_p.G1411A NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1411 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GTAGGACTTGGATATCTGTCT 0.328 15 60 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179397670 179397670 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:179397670G>A uc010zfg.1 - 307 96192 c.95968C>T c.(95968-95970)CGC>TGC p.R31990C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25685C|TTN_uc010zfi.1_Missense_Mutation_p.R25618C|TTN_uc010zfj.1_Missense_Mutation_p.R25493C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32917 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) TGCTTGATGCGTTGGTCTTCT 0.433 182 189 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179578804 179578804 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:179578804T>C uc010zfg.1 - 89 23073 c.22849A>G c.(22849-22851)ACT>GCT p.T7617A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4278A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8544 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) AACCACTTAGTACTGAGTTCA 0.423 18 53 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179612908 179612908 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:179612908G>A uc002unb.2 - 46 14443 c.14219C>T c.(14218-14220)TCT>TTT p.S4740F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 851 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) TATATCTGCAGATGAGGTTGG 0.358 56 81 --- --- --- --- PASS ZNF385B 151126 broad.mit.edu 37 2 180634308 180634308 + Missense_Mutation SNP G A A rs138550246 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:180634308G>A uc002unn.3 - 3 779 c.175C>T c.(175-177)CGC>TGC p.R59C NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 59 Matrin-type 1. nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) ACTCGTTTGCGGTGGGATTTG 0.577 4 85 --- --- --- --- PASS ASNSD1 54529 broad.mit.edu 37 2 190532263 190532263 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:190532263A>G uc002uqt.2 + 4 1839 c.1405A>G c.(1405-1407)AGA>GGA p.R469G NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 469 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GTTTGCTTCTAGAGGAATTGG 0.428 169 171 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197184220 197184220 + Nonsense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:197184220G>C uc002utm.1 - 9 1577 c.1394C>G c.(1393-1395)TCA>TGA p.S465* HECW2_uc002utl.1_Nonsense_Mutation_p.S109* NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 465 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 TTCTTCATCTGAATCAATATG 0.517 33 31 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216300472 216300472 + Silent SNP C G G rs149268490 byFrequency TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:216300472C>G uc002vfa.2 - 1 320 c.54G>C c.(52-54)GGG>GGC p.G18G FN1_uc002vfb.2_Silent_p.G18G|FN1_uc002vfc.2_Silent_p.G18G|FN1_uc002vfd.2_Silent_p.G18G|FN1_uc002vfe.2_Silent_p.G18G|FN1_uc002vff.2_Silent_p.G18G|FN1_uc002vfg.2_Silent_p.G18G|FN1_uc002vfh.2_Silent_p.G18G|FN1_uc002vfi.2_Silent_p.G18G|FN1_uc002vfj.2_Silent_p.G18G|FN1_uc002vfl.2_Silent_p.G18G NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 18 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCACCGCTGTCCCCAGGCACT 0.667 4 4 --- --- --- --- PASS CTDSP1 58190 broad.mit.edu 37 2 219267090 219267090 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:219267090T>G uc002vhy.2 + 4 676 c.340T>G c.(340-342)TTC>GTC p.F114V CTDSP1_uc002vhx.2_Missense_Mutation_p.F113V|CTDSP1_uc002vhz.2_5'UTR|uc010zkd.1_5'Flank|MIR26B_hsa-mir-26b|MI0000084_5'Flank NM_021198 NP_067021 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 114 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding ovary(1) 1 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAACGCGGACTTCATCATCCC 0.632 74 99 --- --- --- --- PASS DES 1674 broad.mit.edu 37 2 220283366 220283366 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:220283366G>T uc002vll.2 + 1 268 c.182G>T c.(181-183)GGC>GTC p.G61V NM_001927 NP_001918 P17661 DESM_HUMAN desmin 61 Head. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) CGCACGTCGGGCGGGGCCGGG 0.741 3 7 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225339077 225339077 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:225339077T>A uc002vny.2 - 16 2576 c.2192A>T c.(2191-2193)AAG>ATG p.K731M CUL3_uc010zls.1_Missense_Mutation_p.K665M|CUL3_uc010fwy.1_Missense_Mutation_p.K737M NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 731 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GAATCGCGCCTTCAACTGCTG 0.333 58 48 --- --- --- --- PASS IRS1 3667 broad.mit.edu 37 2 227660841 227660841 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:227660841G>T uc002voh.3 - 1 2666 c.2614C>A c.(2614-2616)CCT>ACT p.P872T NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 872 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGGGCCCGAGGTAAGGTGCTG 0.557 17 37 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884548 228884548 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:228884548G>T uc002vpq.2 - 7 1069 c.1022C>A c.(1021-1023)CCA>CAA p.P341Q SPHKAP_uc002vpp.2_Missense_Mutation_p.P341Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.P341Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 341 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGCATCTTTTGGAATATACAG 0.418 71 374 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884549 228884549 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:228884549G>T uc002vpq.2 - 7 1068 c.1021C>A c.(1021-1023)CCA>ACA p.P341T SPHKAP_uc002vpp.2_Missense_Mutation_p.P341T|SPHKAP_uc010zlx.1_Missense_Mutation_p.P341T NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 341 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCATCTTTTGGAATATACAGT 0.423 72 379 --- --- --- --- PASS ANKMY1 51281 broad.mit.edu 37 2 241463551 241463551 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr2:241463551T>C uc002vyz.1 - 7 1545 c.1316A>G c.(1315-1317)AAG>AGG p.K439R ANKMY1_uc002vza.1_Missense_Mutation_p.K298R|ANKMY1_uc010fzd.1_Missense_Mutation_p.K528R|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.K298R|ANKMY1_uc002vzd.1_Missense_Mutation_p.K298R|ANKMY1_uc010fze.1_Missense_Mutation_p.K108R|ANKMY1_uc002vze.2_Missense_Mutation_p.K200R NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 439 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AAGGCTGCCCTTCACCAACGG 0.617 51 53 --- --- --- --- PASS TRIM71 131405 broad.mit.edu 37 3 32933223 32933223 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:32933223C>T uc003cff.2 + 4 2590 c.2527C>T c.(2527-2529)CGC>TGC p.R843C NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 843 NHL 6. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 GCAGATGGACCGCCCTTCCGG 0.537 12 245 --- --- --- --- PASS UBP1 7342 broad.mit.edu 37 3 33437660 33437660 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:33437660G>A uc003cfq.3 - 13 1914 c.1384C>T c.(1384-1386)CCC>TCC p.P462S FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|UBP1_uc003cfr.3_Missense_Mutation_p.P426S|UBP1_uc010hga.2_Missense_Mutation_p.P462S NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 462 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 CTACCATAGGGTGCCCCACTG 0.532 121 90 --- --- --- --- PASS SMARCC1 6599 broad.mit.edu 37 3 47742825 47742825 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:47742825C>A uc003crq.2 - 11 1226 c.1108G>T c.(1108-1110)GAT>TAT p.D370Y SMARCC1_uc011bbd.1_Missense_Mutation_p.D261Y NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 370 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCTTCCATATCCTTGGTTAGA 0.368 103 54 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62464080 62464080 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:62464080C>T uc003dll.2 - 23 3545 c.3185G>A c.(3184-3186)GGC>GAC p.G1062D CADPS_uc003dlj.1_Missense_Mutation_p.G12D|CADPS_uc003dlk.1_Missense_Mutation_p.G510D|CADPS_uc003dlm.2_Missense_Mutation_p.G1023D|CADPS_uc003dln.2_Missense_Mutation_p.G983D NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1062 MHD1.|Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TTCTGAGGTGCCTGACCCATT 0.498 28 26 --- --- --- --- PASS COL8A1 1295 broad.mit.edu 37 3 99514202 99514202 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:99514202G>A uc003dtg.1 + 5 1702 c.1457G>A c.(1456-1458)GGA>GAA p.G486E COL8A1_uc003dth.1_Missense_Mutation_p.G486E|COL8A1_uc003dti.1_Missense_Mutation_p.G487E NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 486 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 GGAGAGCCAGGAATCCCAGGG 0.627 8 28 --- --- --- --- PASS CBLB 868 broad.mit.edu 37 3 105438956 105438956 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:105438956C>A uc003dwc.2 - 10 1664 c.1342G>T c.(1342-1344)GAC>TAC p.D448Y CBLB_uc011bhi.1_Missense_Mutation_p.D470Y|CBLB_uc003dwd.1_Missense_Mutation_p.D448Y|CBLB_uc003dwe.1_Missense_Mutation_p.D448Y|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 448 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TCGTCCAAGTCTAGCATCGGC 0.468 Mis S AML 40 103 --- --- --- --- PASS SNX4 8723 broad.mit.edu 37 3 125216958 125216958 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:125216958C>A uc003eib.2 - 3 386 c.344G>T c.(343-345)AGC>ATC p.S115I SNX4_uc011bkf.1_5'UTR NM_003794 NP_003785 O95219 SNX4_HUMAN sorting nexin 4 115 PX. cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 TAAAAGGTAGCTTCTCAACAA 0.413 57 191 --- --- --- --- PASS COPG 22820 broad.mit.edu 37 3 128976393 128976393 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:128976393G>A uc003els.2 + 9 760 c.660G>A c.(658-660)CGG>CGA p.R220R COPG_uc010htb.2_Silent_p.R126R NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 220 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 AGGTCACACGGCATGGCCTTA 0.542 6 769 --- --- --- --- PASS SLCO2A1 6578 broad.mit.edu 37 3 133670154 133670154 + Nonsense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:133670154C>T uc003eqa.3 - 6 1033 c.759G>A c.(757-759)TGG>TGA p.W253* SLCO2A1_uc003eqb.3_Nonsense_Mutation_p.W177*|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Nonsense_Mutation_p.W85* NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 253 Extracellular (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 AGGCTCCAATCCATCGGGGGT 0.478 106 136 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134911504 134911504 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:134911504T>G uc003eqt.2 + 11 2189 c.1969T>G c.(1969-1971)TAC>GAC p.Y657D EPHB1_uc003equ.2_Missense_Mutation_p.Y218D NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 657 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GAAGGCAGGGTACTCGGAGAA 0.547 30 119 --- --- --- --- PASS A4GNT 51146 broad.mit.edu 37 3 137849900 137849900 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:137849900C>A uc003ers.2 - 2 401 c.199G>T c.(199-201)GTC>TTC p.V67F NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 67 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 GAACAGGAGACCAAATGGGGT 0.527 58 205 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 142985611 142985611 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:142985611C>A uc003evn.2 - 16 2053 c.1871G>T c.(1870-1872)GGA>GTA p.G624V NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 624 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GCCGAGGTCTCCCTCATAAAT 0.502 115 371 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128643 147128643 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:147128643C>A uc003ewe.2 + 1 1463 c.744C>A c.(742-744)ACC>ACA p.T248T NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 248 C2H2-type 1; atypical. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CTTTCAGCACCATGCACGAGC 0.577 57 141 --- --- --- --- PASS AADACL2 344752 broad.mit.edu 37 3 151463307 151463307 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:151463307G>C uc003ezc.2 + 4 562 c.442G>C c.(442-444)GCT>CCT p.A148P AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 148 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTATAGGCTGGCTCCTCAACA 0.353 176 500 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157034971 157034971 + Silent SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:157034971T>G uc003fbj.1 - 10 2072 c.1755A>C c.(1753-1755)GTA>GTC p.V585V VEPH1_uc003fbk.1_Silent_p.V585V|VEPH1_uc010hvu.1_Silent_p.V585V NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 585 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACAACTTTGCTACACAACTTC 0.398 11 346 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167023679 167023679 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:167023679T>A uc003fep.2 - 17 1800 c.1477A>T c.(1477-1479)ATT>TTT p.I493F ZBBX_uc011bpc.1_Missense_Mutation_p.I493F|ZBBX_uc003feq.2_Missense_Mutation_p.I464F NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 493 intracellular zinc ion binding ovary(2) 2 ATTTTTTCAATGTCAGAAGAA 0.313 30 94 --- --- --- --- PASS SERPINI1 5274 broad.mit.edu 37 3 167510553 167510553 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:167510553G>A uc003ffa.3 + 4 855 c.657G>A c.(655-657)CAG>CAA p.Q219Q SERPINI1_uc003ffb.3_Silent_p.Q219Q NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 219 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 TGATGTATCAGCAAGGAGAAT 0.333 80 280 --- --- --- --- PASS MYNN 55892 broad.mit.edu 37 3 169492342 169492342 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:169492342C>A uc003fft.2 + 2 688 c.259C>A c.(259-261)CTT>ATT p.L87I MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Missense_Mutation_p.L87I|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.L87I NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 87 BTB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AACTTTAAATCTTGACAGGTA 0.343 70 551 --- --- --- --- PASS LRRC15 131578 broad.mit.edu 37 3 194080379 194080379 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:194080379A>T uc003ftu.2 - 2 1480 c.1394T>A c.(1393-1395)ATT>AAT p.I465N LRRC15_uc003ftt.2_Missense_Mutation_p.I471N NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 465 LRRCT.|Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) ATTGATGATAATGAGGGACTG 0.557 25 35 --- --- --- --- PASS FYTTD1 84248 broad.mit.edu 37 3 197503814 197503814 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr3:197503814A>T uc003fyi.2 + 7 892 c.673A>T c.(673-675)ACA>TCA p.T225S FYTTD1_uc011bui.1_Missense_Mutation_p.T199S|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.T158S NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 225 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) GACTTCCACCACAAATGGAGG 0.303 77 198 --- --- --- --- PASS HTRA3 94031 broad.mit.edu 37 4 8271847 8271847 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:8271847G>T uc003gla.2 + 1 356 c.152G>T c.(151-153)TGC>TTC p.C51F HTRA3_uc003gkz.2_Missense_Mutation_p.C51F NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 51 IGFBP N-terminal. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 TGCAACTGCTGCCTGGTGTGC 0.771 10 6 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22390767 22390767 + Silent SNP G A A rs138178541 byFrequency TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:22390767G>A uc003gqm.1 - 18 2932 c.2667C>T c.(2665-2667)TGC>TGT p.C889C GPR125_uc010ieo.1_Silent_p.C745C|GPR125_uc003gql.1_Silent_p.C16C NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 889 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CAGTTATGCCGCAAACAATGA 0.423 5 432 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895576 42895576 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:42895576A>G uc003gwt.2 + 1 293 c.293A>G c.(292-294)AAC>AGC p.N98S NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 98 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 AGAAGAGTCAACATTTTAAGC 0.428 147 119 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52861681 52861681 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:52861681C>A uc003gzi.2 - 4 1520 c.1507G>T c.(1507-1509)GGT>TGT p.G503C NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 503 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TAGACTGCACCATCATTTCCA 0.522 104 93 --- --- --- --- PASS C4orf14 84273 broad.mit.edu 37 4 57842861 57842861 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:57842861C>A uc003hck.2 - 1 966 c.891G>T c.(889-891)GGG>GGT p.G297G POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 297 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) TCGGATTCTCCCCGTCCTGTG 0.677 28 18 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65188413 65188413 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:65188413C>G uc003hcv.2 - 4 538 c.429G>C c.(427-429)TGG>TGC p.W143C TECRL_uc003hcw.2_Missense_Mutation_p.W143C NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 143 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TTACTGTGGTCCAACTGACTT 0.343 30 20 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158242640 158242640 + Silent SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:158242640C>G uc003ipm.3 + 6 1230 c.771C>G c.(769-771)GTC>GTG p.V257V GRIA2_uc011cit.1_Silent_p.V210V|GRIA2_uc003ipl.3_Silent_p.V257V|GRIA2_uc003ipk.3_Silent_p.V210V|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 257 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GTGCAAATGTCTCTGGATTTC 0.363 166 120 --- --- --- --- PASS IRX4 50805 broad.mit.edu 37 5 1879718 1879718 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:1879718G>T uc003jcz.2 - 4 755 c.636C>A c.(634-636)AAC>AAA p.N212K IRX4_uc011cmf.1_Missense_Mutation_p.N73K NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 212 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) CTGCGCACTTGTTCCGCGGCG 0.483 24 67 --- --- --- --- PASS NSUN2 54888 broad.mit.edu 37 5 6616870 6616870 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:6616870C>G uc003jdu.2 - 9 1056 c.991G>C c.(991-993)GTC>CTC p.V331L NSUN2_uc003jdt.2_Missense_Mutation_p.V95L|NSUN2_uc011cmk.1_Missense_Mutation_p.V296L|NSUN2_uc003jdv.2_Missense_Mutation_p.V95L NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 331 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 GATGCTATGACTGCTTCATCC 0.423 79 212 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629613 9629613 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:9629613A>T uc003jem.1 - 1 851 c.532T>A c.(532-534)TCT>ACT p.S178T NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 178 Extracellular (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 GCAACAAAAGAGAAAATCTGT 0.403 115 332 --- --- --- --- PASS CCT5 22948 broad.mit.edu 37 5 10254914 10254914 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:10254914G>T uc003jeq.2 + 3 466 c.295G>T c.(295-297)GAT>TAT p.D99Y CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.D99Y|CCT5_uc010its.2_Missense_Mutation_p.D99Y|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.D61Y|CCT5_uc011cmt.1_Intron NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 99 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 CAAGTCTCAGGATGATGAAAT 0.428 92 300 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747071 19747071 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:19747071A>T uc003jgc.2 - 3 880 c.503T>A c.(502-504)GTG>GAG p.V168E CDH18_uc003jgd.2_Missense_Mutation_p.V168E|CDH18_uc011cnm.1_Missense_Mutation_p.V168E NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 168 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CATTTCAGGCACAGTAACAAT 0.333 178 187 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747228 19747228 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:19747228G>T uc003jgc.2 - 3 723 c.346C>A c.(346-348)CTA>ATA p.L116I CDH18_uc003jgd.2_Missense_Mutation_p.L116I|CDH18_uc011cnm.1_Missense_Mutation_p.L116I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 116 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCTCTGTCTAGGCTTTTTGTT 0.438 123 418 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975332 21975332 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:21975332C>G uc010iuc.2 - 3 852 c.394G>C c.(394-396)GTG>CTG p.V132L CDH12_uc011cno.1_Missense_Mutation_p.V132L|CDH12_uc003jgk.2_Missense_Mutation_p.V132L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 132 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCTATGTCCACAGCCTGAGCA 0.428 HNSCC(59;0.17) 92 243 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488134 24488134 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:24488134C>A uc003jgr.1 - 12 2337 c.2005G>T c.(2005-2007)GCC>TCC p.A669S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 669 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATATCAAAGGCCTGGGTGTCC 0.463 HNSCC(23;0.051) 55 186 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915908 26915908 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:26915908C>A uc003jgs.1 - 3 522 c.353G>T c.(352-354)AGA>ATA p.R118I CDH9_uc010iug.2_Missense_Mutation_p.R118I NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 118 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTTTTCTTCTCTGTCTAGTTT 0.383 6 639 --- --- --- --- PASS C5orf22 55322 broad.mit.edu 37 5 31551433 31551433 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:31551433G>C uc003jhj.3 + 8 1220 c.1093G>C c.(1093-1095)GAA>CAA p.E365Q C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_Missense_Mutation_p.E100Q|C5orf22_uc010iuj.2_Missense_Mutation_p.E100Q NM_018356 NP_060826 Q49AR2 CE022_HUMAN hypothetical protein LOC55322 365 ovary(2) 2 CGATTATTCAGAACTTCCTCA 0.323 83 225 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43628327 43628327 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:43628327T>A uc003joe.2 + 7 1057 c.802T>A c.(802-804)TCT>ACT p.S268T NNT_uc003jof.2_Missense_Mutation_p.S268T NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 268 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) ACAGTTCAAGTCTCTTGGTGC 0.418 168 409 --- --- --- --- PASS FAM170A 340069 broad.mit.edu 37 5 118970272 118970272 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:118970272C>G uc003ksm.2 + 3 1039 c.829C>G c.(829-831)CAA>GAA p.Q277E FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.Q277E|FAM170A_uc003kso.2_Missense_Mutation_p.Q230E NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 277 Glu-rich. intracellular zinc ion binding skin(1) 1 AGAGAGCACCCaagatgagca 0.343 163 159 --- --- --- --- PASS IL9 3578 broad.mit.edu 37 5 135229765 135229765 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:135229765G>A uc003lbb.1 - 4 270 c.259C>T c.(259-261)CTG>TTG p.L87L NM_000590 NP_000581 P15248 IL9_HUMAN interleukin 9 precursor 87 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGAAAATCAGTGGGTATCTT 0.388 71 46 --- --- --- --- PASS TMEM173 340061 broad.mit.edu 37 5 138857016 138857016 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:138857016C>A uc003lep.2 - 7 1095 c.844G>T c.(844-846)GAG>TAG p.E282* NM_198282 NP_938023 Q86WV6 TM173_HUMAN transmembrane protein 173 282 Cytoplasmic (Potential). activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCCTATCCTCCCGGCTAAAG 0.562 113 52 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140502219 140502219 + Silent SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:140502219G>C uc003lip.1 + 1 639 c.639G>C c.(637-639)GCG>GCC p.A213A NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 213 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCGTGGCGCTGGATGGTG 0.512 153 67 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554282 140554282 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:140554282C>T uc003lit.2 + 1 2040 c.1866C>T c.(1864-1866)GGC>GGT p.G622G NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 622 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCACAATGGCGAGGTGCGTA 0.697 6 112 --- --- --- --- PASS CSNK1A1 1452 broad.mit.edu 37 5 148930407 148930407 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr5:148930407C>A uc003lqx.1 - 1 601 c.121G>T c.(121-123)GAG>TAG p.E41* CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Nonsense_Mutation_p.E41*|CSNK1A1_uc003lqy.1_Nonsense_Mutation_p.E41*|CSNK1A1_uc010jha.1_Nonsense_Mutation_p.E41* NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 41 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ATGATTACCTCGCCGTTGGTG 0.547 86 39 --- --- --- --- PASS BTN3A2 11118 broad.mit.edu 37 6 26368907 26368907 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:26368907G>T uc010jqh.1 + 4 459 c.200G>T c.(199-201)TGG>TTG p.W67L BTN3A2_uc003nho.1_Missense_Mutation_p.W65L|BTN3A2_uc003nhp.2_Missense_Mutation_p.W67L|BTN3A2_uc011dkd.1_Missense_Mutation_p.W25L|BTN3A2_uc011dke.1_Missense_Mutation_p.W44L|BTN3A2_uc010jqi.1_Missense_Mutation_p.W65L NM_007047 NP_008978 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 precursor 67 Ig-like V-type.|Extracellular (Potential). integral to membrane 0 GAGCTGAAGTGGGTAAGTTCC 0.562 188 468 --- --- --- --- PASS ZNF192 7745 broad.mit.edu 37 6 28120957 28120957 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:28120957A>G uc003nkn.1 + 6 1083 c.899A>G c.(898-900)GAA>GGA p.E300G ZNF192_uc010jqx.1_Missense_Mutation_p.E300G|ZNF192_uc010jqy.1_Missense_Mutation_p.E113G|ZNF192_uc011dkz.1_Missense_Mutation_p.E113G NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 300 KRAB. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTTGAGCATGAAGAAGCCCGA 0.483 73 129 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33147525 33147525 + Nonsense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:33147525G>A uc003ocx.1 - 13 1645 c.1417C>T c.(1417-1419)CAG>TAG p.Q473* COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Nonsense_Mutation_p.Q387*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.Q366* NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 473 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GCCTGGGCCTGAGCCTCCTGG 0.637 41 90 --- --- --- --- PASS MLN 4295 broad.mit.edu 37 6 33768842 33768842 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:33768842G>A uc003off.1 - 2 170 c.99C>T c.(97-99)GGC>GGT p.G33G MLN_uc003ofg.1_Silent_p.G33G|MLN_uc011drn.1_Silent_p.G33G NM_002418 NP_002409 P12872 MOTI_HUMAN motilin isoform 1 preproprotein 33 cell-cell signaling|G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction hormone activity 0 TCTGGAGTTCGCCATAGGTGA 0.567 219 312 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38835933 38835933 + Silent SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:38835933T>A uc003ooe.1 + 46 6738 c.6138T>A c.(6136-6138)ATT>ATA p.I2046I NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AATTAAGCATTGTCATGAGAG 0.353 120 154 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38835954 38835954 + Silent SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:38835954T>C uc003ooe.1 + 46 6759 c.6159T>C c.(6157-6159)GAT>GAC p.D2053D NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GACTAAGAGATATGAACCTTT 0.363 62 168 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38891790 38891790 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:38891790G>T uc003ooe.1 + 71 10763 c.10163G>T c.(10162-10164)TGC>TTC p.C3388F uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATTCTGCTGTGCACGGGATTC 0.428 158 310 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38980082 38980082 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:38980082T>C uc003ooe.1 + 88 13412 c.12812T>C c.(12811-12813)ATA>ACA p.I4271T NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GTCATTTCAATACTCCGCAGT 0.358 106 220 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40400370 40400370 + Silent SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:40400370G>C uc003oph.1 - 2 948 c.483C>G c.(481-483)CTC>CTG p.L161L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 161 LRR 5.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAGGCCATGGAGGTTGTTGT 0.582 65 98 --- --- --- --- PASS APOBEC2 10930 broad.mit.edu 37 6 41029329 41029329 + Missense_Mutation SNP G A A rs142866037 by1000genomes TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:41029329G>A uc003opl.2 + 2 541 c.394G>A c.(394-396)GCT>ACT p.A132T UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 132 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCAGCGTGTGCTGACCGCAT 0.567 222 333 --- --- --- --- PASS CRISP1 167 broad.mit.edu 37 6 49825094 49825094 + Missense_Mutation SNP A C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:49825094A>C uc003ozw.2 - 2 99 c.20T>G c.(19-21)TTG>TGG p.L7W CRISP1_uc003ozx.2_Missense_Mutation_p.L7W NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 7 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) AACCAAAAACAAGAGGTGTTT 0.303 35 105 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50718997 50718997 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:50718997A>G uc003paf.2 + 7 1611 c.1099A>G c.(1099-1101)ATT>GTT p.I367V TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 367 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) ACCCACTCCAATTCTAGACCT 0.368 60 135 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66053931 66053931 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:66053931C>A uc011dxu.1 - 10 2137 c.1599G>T c.(1597-1599)GAG>GAT p.E533D EYS_uc003peq.2_Missense_Mutation_p.E533D|EYS_uc003per.1_Missense_Mutation_p.E533D NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 533 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ATTACCTTACCTCTTTTGTGC 0.328 54 110 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70866579 70866579 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:70866579G>T uc003pfc.1 + 34 2373 c.2256G>T c.(2254-2256)CGG>CGT p.R752R COL19A1_uc010kam.1_Silent_p.R648R NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 752 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AAGGAGAGCGGGGCTACCCTG 0.388 27 64 --- --- --- --- PASS SYNCRIP 10492 broad.mit.edu 37 6 86324793 86324793 + Missense_Mutation SNP C A A rs146447694 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:86324793C>A uc003pla.2 - 11 2094 c.1553G>T c.(1552-1554)CGC>CTC p.R518L SYNCRIP_uc003pku.2_Missense_Mutation_p.R518L|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R483L|SYNCRIP_uc003pky.2_Missense_Mutation_p.R420L|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R518L|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R366L|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R483L NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 518 Interaction with SMN.|Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GGCTCTACCGCGGGGAGGAGC 0.577 128 214 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90604959 90604959 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:90604959C>A uc011eaa.1 + 1 772 c.772C>A c.(772-774)CCA>ACA p.P258T NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 258 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) AACAGGCCCTCCATTCCATTT 0.393 101 161 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112451081 112451081 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:112451081G>A uc003pvu.2 - 30 4439 c.4130C>T c.(4129-4131)ACC>ATC p.T1377I LAMA4_uc003pvv.2_Missense_Mutation_p.T1370I|LAMA4_uc003pvt.2_Missense_Mutation_p.T1370I NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1377 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) attataCCTGGTAAAGTAGGC 0.323 23 34 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129609151 129609151 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:129609151G>T uc003qbn.2 + 19 2802 c.2697G>T c.(2695-2697)GAG>GAT p.E899D LAMA2_uc003qbo.2_Missense_Mutation_p.E899D NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 899 Laminin EGF-like 8. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGTACTGTGAGCTCTGTGCTG 0.473 214 446 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130374031 130374031 + Missense_Mutation SNP A C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:130374031A>C uc003qbt.2 + 7 647 c.477A>C c.(475-477)GAA>GAC p.E159D L3MBTL3_uc003qbu.2_Missense_Mutation_p.E134D NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 159 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GGGACGTAGAAGAAGACAATG 0.378 28 80 --- --- --- --- PASS TAAR5 9038 broad.mit.edu 37 6 132910451 132910451 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:132910451G>T uc003qdk.2 - 1 427 c.375C>A c.(373-375)CTC>CTA p.L125L NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 125 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) AAATGAAACAGAGATGGAAGA 0.567 73 117 --- --- --- --- PASS ECT2L 345930 broad.mit.edu 37 6 139164314 139164314 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:139164314C>G uc003qif.1 + 4 644 c.541C>G c.(541-543)CAA>GAA p.Q181E ECT2L_uc011edq.1_Missense_Mutation_p.Q112E NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 181 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 ACTGGAGAGACAAAGAGAAAA 0.413 11 237 --- --- --- --- PASS STX11 8676 broad.mit.edu 37 6 144508138 144508138 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:144508138C>G uc003qks.3 + 2 566 c.374C>G c.(373-375)GCG>GGG p.A125G NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 125 HSAVAR -> ALGSGG (in Ref. 1; AAD02107). cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TCGGCAGTGGCGCGCATTTCG 0.672 Familial_Hemophagocytic_Lymphohistiocytosis 11 23 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146262959 146262959 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:146262959C>A uc003qlf.2 - 10 2689 c.2290G>T c.(2290-2292)GAA>TAA p.E764* SHPRH_uc003qld.2_Nonsense_Mutation_p.E764*|SHPRH_uc003qle.2_Nonsense_Mutation_p.E764*|SHPRH_uc003qlg.1_Nonsense_Mutation_p.E320*|SHPRH_uc003qlj.1_Nonsense_Mutation_p.E653* NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 764 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ATATCCTGTTCTGCCAAAAAA 0.383 58 79 --- --- --- --- PASS AKAP12 9590 broad.mit.edu 37 6 151672421 151672421 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:151672421C>T uc011eep.1 + 4 3135 c.2895C>T c.(2893-2895)GTC>GTT p.V965V AKAP12_uc003qoe.2_Silent_p.V965V|AKAP12_uc003qof.2_Silent_p.V867V|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.V860V NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 965 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GCGACACGGTCGTTAGTGAGG 0.547 61 156 --- --- --- --- PASS SNX9 51429 broad.mit.edu 37 6 158349731 158349731 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:158349731G>T uc003qqv.1 + 12 1458 c.1285G>T c.(1285-1287)GGC>TGC p.G429C NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 429 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) GCGCTGCACGGGCCGTAAGTC 0.597 11 14 --- --- --- --- PASS SUN1 23353 broad.mit.edu 37 7 895996 895996 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:895996C>T uc011jvp.1 + 13 1431 c.1352C>T c.(1351-1353)GCC>GTC p.A451V GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.A368V|SUN1_uc011jvq.1_Missense_Mutation_p.A348V|SUN1_uc003sjg.2_Missense_Mutation_p.A356V|SUN1_uc011jvr.1_Missense_Mutation_p.A249V|SUN1_uc003sji.2_Missense_Mutation_p.A289V|SUN1_uc003sjk.2_Missense_Mutation_p.A90V NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 478 Perinuclear space.|Potential. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 ACTTTTTAGGCCATCCAGAAG 0.348 4 235 --- --- --- --- PASS C7orf50 84310 broad.mit.edu 37 7 1166901 1166901 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:1166901C>T uc003sju.2 - 2 191 c.121G>A c.(121-123)GGC>AGC p.G41S C7orf50_uc011jvt.1_Missense_Mutation_p.G41S|C7orf50_uc011jvu.1_Missense_Mutation_p.G41S NM_032350 NP_115726 Q9BRJ6 CG050_HUMAN hypothetical protein LOC84310 41 protein binding 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) ACCTTGGAGCCGGCTCCTTCG 0.597 12 21 --- --- --- --- PASS TTYH3 80727 broad.mit.edu 37 7 2691859 2691859 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:2691859G>T uc003smp.2 + 8 1097 c.910G>T c.(910-912)GCC>TCC p.A304S TTYH3_uc010ksn.2_Missense_Mutation_p.A24S|TTYH3_uc003smq.2_Missense_Mutation_p.A133S NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 304 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GCCCCGCGCCGCCAACCCCTT 0.652 15 38 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11464387 11464387 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:11464387A>T uc003ssf.3 - 15 3571 c.3319T>A c.(3319-3321)TGC>AGC p.C1107S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1107 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTCACCTTGCAGATGCTCCAG 0.488 HNSCC(18;0.044) 177 323 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21744074 21744074 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:21744074A>T uc003svc.2 + 39 6348 c.6317A>T c.(6316-6318)GAT>GTT p.D2106V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2106 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GCATTAAGGGATTTCAATATG 0.413 Kartagener_syndrome 20 49 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21824066 21824066 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:21824066G>T uc003svc.2 + 59 9557 c.9526G>T c.(9526-9528)GTG>TTG p.V3176L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3176 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCAGACTGAAGTGTTCCAGAA 0.418 Kartagener_syndrome 21 45 --- --- --- --- PASS NFE2L3 9603 broad.mit.edu 37 7 26225342 26225342 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:26225342T>C uc003sxq.2 + 4 2296 c.2024T>C c.(2023-2025)GTA>GCA p.V675A NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 675 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 ATCTTGATAGTACCCAAAGAA 0.408 13 247 --- --- --- --- PASS HOXA10 3206 broad.mit.edu 37 7 27211732 27211732 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:27211732C>A uc011jzm.1 - 2 1049 c.1019G>T c.(1018-1020)CGC>CTC p.R340L MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R24L NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 340 Homeobox. spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTAGGGGCAGCGCTTCTTCCG 0.522 64 135 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378572 31378572 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:31378572C>T uc003tch.2 - 2 664 c.311G>A c.(310-312)AGG>AAG p.R104K NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 104 Basic motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 CATCCTGTTCCTCTCGCGCGC 0.478 228 328 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31887681 31887681 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:31887681C>A uc003tcm.1 - 9 1350 c.881G>T c.(880-882)AGA>ATA p.R294I PDE1C_uc003tcn.1_Missense_Mutation_p.R294I|PDE1C_uc003tco.1_Missense_Mutation_p.R354I|PDE1C_uc003tcr.2_Missense_Mutation_p.R294I|PDE1C_uc003tcs.2_Missense_Mutation_p.R294I NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 294 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CAGTACAGATCTGTCATTATA 0.388 84 180 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48311842 48311842 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:48311842C>T uc003toq.2 + 17 2604 c.2579C>T c.(2578-2580)TCT>TTT p.S860F ABCA13_uc010kyr.2_Missense_Mutation_p.S363F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 860 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTAAATTTTTCTGTTCCAGAA 0.318 70 97 --- --- --- --- PASS DLX5 1749 broad.mit.edu 37 7 96650125 96650125 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:96650125T>C uc003uon.2 - 3 1001 c.793A>G c.(793-795)AGC>GGC p.S265G NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 265 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TTGATTGAGCTGGCTGCACTT 0.622 30 79 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100389695 100389695 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:100389695C>A uc003uwj.2 + 42 7802 c.7637C>A c.(7636-7638)GCC>GAC p.A2546D ZAN_uc003uwk.2_Missense_Mutation_p.A2546D|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.P539T NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2546 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCACCCAGGCCTGTAGGGTG 0.677 12 24 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100459152 100459152 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:100459152G>T uc003uwp.2 + 11 1624 c.1482G>T c.(1480-1482)GCG>GCT p.A494A SLC12A9_uc003uwq.2_Silent_p.A405A|SLC12A9_uc011kki.1_Silent_p.A25A|SLC12A9_uc003uwr.2_Silent_p.A230A|SLC12A9_uc003uws.2_Silent_p.A25A|SLC12A9_uc003uwt.2_Silent_p.A230A|SLC12A9_uc003uwv.2_Silent_p.A25A NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 494 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCTCACCGCGCGAGGAGGCC 0.652 64 99 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100675524 100675524 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:100675524C>G uc003uxp.1 + 3 880 c.827C>G c.(826-828)CCA>CGA p.P276R MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 276 Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGAAGCACTCCATTAACAAGA 0.507 150 380 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100679577 100679577 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:100679577G>T uc003uxp.1 + 3 4933 c.4880G>T c.(4879-4881)AGT>ATT p.S1627I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1627 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCAACTCCTAGTGAAGGAAGT 0.493 295 479 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103183247 103183247 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:103183247T>C uc003vca.2 - 43 6762 c.6602A>G c.(6601-6603)AAC>AGC p.N2201S RELN_uc010liz.2_Missense_Mutation_p.N2201S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2201 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAAGAGGTTGTTTCCACTAGA 0.373 93 179 --- --- --- --- PASS FOXP2 93986 broad.mit.edu 37 7 114302136 114302136 + Missense_Mutation SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:114302136A>G uc003vhb.2 + 14 2038 c.1664A>G c.(1663-1665)AAT>AGT p.N555S FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N580S|FOXP2_uc003vha.2_Missense_Mutation_p.N463S|FOXP2_uc011kmu.1_Missense_Mutation_p.N572S|FOXP2_uc011kmv.1_Missense_Mutation_p.N554S|FOXP2_uc010ljz.1_Missense_Mutation_p.N370S|FOXP2_uc003vhe.1_Missense_Mutation_p.N125S NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 555 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 GTACGTCATAATCTTAGCCTG 0.363 49 74 --- --- --- --- PASS TSPAN12 23554 broad.mit.edu 37 7 120428872 120428872 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:120428872C>A uc003vjk.2 - 8 1066 c.692G>T c.(691-693)GGG>GTG p.G231V TSPAN12_uc010lkj.2_Missense_Mutation_p.G104V NM_012338 NP_036470 O95859 TSN12_HUMAN transmembrane 4 superfamily member 12 231 Helical; (Potential). angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction 0 all_neural(327;0.117) TTGTGTCACCCCAATGGAGAT 0.458 99 136 --- --- --- --- PASS ARF5 381 broad.mit.edu 37 7 127231089 127231089 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:127231089C>T uc003vmb.1 + 5 439 c.403C>T c.(403-405)CCC>TCC p.P135S FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 135 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 CAACGCCATGCCCGTGAGCGA 0.612 6 333 --- --- --- --- PASS FAM180A 389558 broad.mit.edu 37 7 135418840 135418840 + Nonsense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:135418840G>C uc003vtd.2 - 3 671 c.405C>G c.(403-405)TAC>TAG p.Y135* FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Nonsense_Mutation_p.Y135* NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 135 extracellular region ovary(2) 2 GGGCTGTGCGGTAGGCTGTGT 0.617 49 88 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140453108 140453108 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:140453108C>A uc003vwc.3 - 15 1888 c.1827G>T c.(1825-1827)CAG>CAT p.Q609H NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 609 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.Q609R(1)|p.Q609Q(1)|p.Q609*(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) ACTGTTCAAACTGATGGGACC 0.393 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 83 176 --- --- --- --- PASS WEE2 494551 broad.mit.edu 37 7 141427144 141427144 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:141427144C>A uc003vwn.2 + 10 1839 c.1433C>A c.(1432-1434)GCA>GAA p.A478E FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 478 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) CCTTCTGCAGCAGCTCTGGCC 0.468 6 414 --- --- --- --- PASS OR2A2 442361 broad.mit.edu 37 7 143806781 143806781 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:143806781C>A uc011ktz.1 + 1 106 c.106C>A c.(106-108)CTC>ATC p.L36I NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) CTTCTATACACTCACCCTGCT 0.517 161 291 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 148112556 148112556 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:148112556C>T uc003weu.1 + 24 4360 c.3844C>T c.(3844-3846)CTG>TTG p.L1282L CNTNAP2_uc003wev.1_Silent_p.L59L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1282 Helical; (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTGGTCTTCCTGATCCGGTA 0.582 HNSCC(39;0.1) 52 85 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149426415 149426415 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:149426415G>C uc003wfz.2 + 14 2164 c.1765G>C c.(1765-1767)GAC>CAC p.D589H KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 589 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGGTTCAAAGACCCTGGGGC 0.652 11 26 --- --- --- --- PASS REPIN1 29803 broad.mit.edu 37 7 150069554 150069554 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:150069554C>T uc010lpq.1 + 4 1713 c.1224C>T c.(1222-1224)TGC>TGT p.C408C REPIN1_uc003whd.2_Silent_p.C397C|REPIN1_uc010lpr.1_Silent_p.C465C|REPIN1_uc003whc.2_Silent_p.C408C|REPIN1_uc003whe.2_Silent_p.C408C NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 408 C2H2-type 10. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GCGCCGAGTGCGGGAAGAACT 0.721 5 6 --- --- --- --- PASS ACCN3 9311 broad.mit.edu 37 7 150747277 150747277 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr7:150747277G>A uc003win.2 + 2 987 c.619G>A c.(619-621)GGC>AGC p.G207S ACCN3_uc003wio.2_Missense_Mutation_p.G207S|ACCN3_uc003wip.2_Missense_Mutation_p.G207S|ACCN3_uc003wiq.2_RNA NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 207 Extracellular (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGTGGCATGGGCAATGGGCT 0.577 34 107 --- --- --- --- PASS SPAG11B 10407 broad.mit.edu 37 8 7320355 7320355 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:7320355G>T uc003wrk.2 - 2 255 c.88C>A c.(88-90)CAC>AAC p.H30N SPAG11B_uc003wrg.1_Missense_Mutation_p.H30N|SPAG11B_uc003wrh.1_Missense_Mutation_p.H30N|SPAG11B_uc003wrl.2_Missense_Mutation_p.H30N|SPAG11B_uc003wrm.2_Missense_Mutation_p.H30N NM_016512 NP_057596 Q08648 SG11B_HUMAN sperm associated antigen 11B isoform A 30 spermatogenesis extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) GTGGCTGAGTGGTTCACATGT 0.587 30 136 --- --- --- --- PASS DOK2 9046 broad.mit.edu 37 8 21769830 21769830 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:21769830G>A uc003wzy.1 - 2 348 c.255C>T c.(253-255)TTC>TTT p.F85F DOK2_uc003wzx.1_Silent_p.F85F|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 85 PH. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TGGTCTCCAGGAAGAAGGCAC 0.716 3 2 --- --- --- --- PASS DOK2 9046 broad.mit.edu 37 8 21769833 21769833 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:21769833G>T uc003wzy.1 - 2 345 c.252C>A c.(250-252)TTC>TTA p.F84L DOK2_uc003wzx.1_Missense_Mutation_p.F84L|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 84 PH. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCTCCAGGAAGAAGGCACTGG 0.711 3 1 --- --- --- --- PASS EIF4EBP1 1978 broad.mit.edu 37 8 37914609 37914609 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:37914609C>T uc003xks.2 + 2 228 c.156C>T c.(154-156)ATC>ATT p.I52I NM_004095 NP_004086 Q13541 4EBP1_HUMAN eukaryotic translation initiation factor 4E 52 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation cytosol 0 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) GTACCAGGATCATCTATGACC 0.552 44 42 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56436018 56436018 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:56436018G>A uc003xsf.2 + 3 1217 c.1185G>A c.(1183-1185)TCG>TCA p.S395S NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 395 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TCTTTGCCTCGGTTTTCCAGC 0.512 105 385 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72942187 72942187 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:72942187G>A uc003xza.2 - 24 3061 c.2886C>T c.(2884-2886)GGC>GGT p.G962G uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 962 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CAGCAATGTCGCCAACTGCCA 0.299 16 65 --- --- --- --- PASS GDF6 392255 broad.mit.edu 37 8 97172832 97172832 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:97172832G>A uc003yhp.2 - 1 189 c.89C>T c.(88-90)TCC>TTC p.S30F NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 30 Poly-Ser. activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) CGACGAGGAGGATGAGATGGA 0.642 65 73 --- --- --- --- PASS GDF6 392255 broad.mit.edu 37 8 97172833 97172833 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:97172833A>T uc003yhp.2 - 1 188 c.88T>A c.(88-90)TCC>ACC p.S30T NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 30 Poly-Ser. activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GACGAGGAGGATGAGATGGAA 0.642 65 73 --- --- --- --- PASS LYNX1 66004 broad.mit.edu 37 8 143846491 143846491 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:143846491G>C uc003yxb.2 - 4 849 c.222C>G c.(220-222)TGC>TGG p.C74W LYNX1_uc003yxa.2_Missense_Mutation_p.C40W NM_023946 NP_076435 Q9BZG9 LYNX1_HUMAN Ly-6 neurotoxin-like protein 1 isoform a Error:Variant_position_missing_in_Q9BZG9_after_alignment anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AGTCCCTCAGGCATCTGGATC 0.617 3 29 --- --- --- --- PASS CYC1 1537 broad.mit.edu 37 8 145151504 145151504 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:145151504A>T uc003zaz.3 + 5 672 c.629A>T c.(628-630)TAC>TTC p.Y210F CYC1_uc003zay.2_Missense_Mutation_p.Y151F NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 210 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTGAGGACTACGTCTTCTCC 0.612 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 105 --- --- --- --- PASS RLN2 6019 broad.mit.edu 37 9 5300201 5300201 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:5300201C>A uc003zja.1 - 2 455 c.455G>T c.(454-456)GGC>GTC p.G152V RLN2_uc003ziz.1_3'UTR NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 152 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) AGTATCCAAGCCTAAGTATTT 0.363 120 75 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32541488 32541488 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:32541488G>A uc003zrb.2 - 3 3202 c.3035C>T c.(3034-3036)CCC>CTC p.P1012L TOPORS_uc003zrc.2_Missense_Mutation_p.P945L NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 1012 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AATGTTACTGGGCTGGTTCTC 0.423 64 155 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79321366 79321366 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:79321366C>T uc010mpk.2 - 8 5948 c.5824G>A c.(5824-5826)GTG>ATG p.V1942M PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1942 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GCAGCAGACACAAAGGTTTGC 0.483 78 49 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114246757 114246757 + Silent SNP A C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:114246757A>C uc004bfe.1 - 2 156 c.156T>G c.(154-156)CGT>CGG p.R52R KIAA0368_uc010muc.1_5'Flank NM_001080398 NP_001073867 KIAA0368 protein 0 TCAGTCCCGGACGAGCCCCTG 0.711 6 9 --- --- --- --- PASS TRAF1 7185 broad.mit.edu 37 9 123675781 123675781 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:123675781G>A uc004bku.1 - 5 1102 c.530C>T c.(529-531)GCC>GTC p.A177V TRAF1_uc011lyg.1_Missense_Mutation_p.A55V|TRAF1_uc010mvl.1_Missense_Mutation_p.A177V NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 177 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 GTGCTGCAGGGCCAGCTCCTC 0.612 55 29 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126439038 126439038 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:126439038C>A uc004bnz.1 - 6 566 c.333G>T c.(331-333)AAG>AAT p.K111N DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Missense_Mutation_p.K79N|DENND1A_uc004boa.1_Missense_Mutation_p.K111N|DENND1A_uc004bob.1_Missense_Mutation_p.K81N|DENND1A_uc004boc.2_Missense_Mutation_p.K79N NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 111 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TGTTAAGCAGCTTATAAAATA 0.318 52 56 --- --- --- --- PASS SEC16A 9919 broad.mit.edu 37 9 139369734 139369734 + Silent SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:139369734C>G uc004chx.2 - 3 2643 c.2334G>C c.(2332-2334)CCG>CCC p.P778P SEC16A_uc004chv.3_Silent_p.P405P|SEC16A_uc004chw.2_Silent_p.P778P|SEC16A_uc010nbn.2_Silent_p.P778P|SEC16A_uc010nbo.1_Silent_p.P778P NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 600 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCTCTGCACCGGGGCCGCCG 0.592 9 16 --- --- --- --- PASS KIAA1984 84960 broad.mit.edu 37 9 139693672 139693672 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:139693672G>A uc004cjf.2 + 2 237 c.189G>A c.(187-189)AAG>AAA p.K63K NM_001039374 NP_001034463 Q5T5S1 K1984_HUMAN hypothetical protein LOC84960 63 ovary(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CTTTGGCCAAGAAGGTACACA 0.652 17 18 --- --- --- --- PASS C9orf172 389813 broad.mit.edu 37 9 139739515 139739515 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:139739515C>A uc011meh.1 + 1 649 c.649C>A c.(649-651)CGC>AGC p.R217S PHPT1_uc004cjp.2_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 217 Pro-rich. 0 GCACTGGGCCCGCCCCGCCCC 0.761 2 0 --- --- --- --- PASS FBXW5 54461 broad.mit.edu 37 9 139835710 139835710 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr9:139835710C>A uc004cjx.2 - 8 1601 c.1450G>T c.(1450-1452)GTG>TTG p.V484L FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.V232L|FBXW5_uc004cjz.2_Missense_Mutation_p.V214L NM_018998 NP_061871 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 484 WD 2. catalytic activity|protein binding 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CACCTGGCCACGAAGTCCCTG 0.716 18 9 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 7860717 7860717 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:7860717G>T uc010qbd.1 + 1 45 c.45G>T c.(43-45)GCG>GCT p.A15A NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 15 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TCTCGGTGGCGCAGATCTGCC 0.692 21 13 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15614302 15614302 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:15614302G>T uc001ioc.1 - 25 2545 c.2545C>A c.(2545-2547)CGG>AGG p.R849R ITGA8_uc010qcb.1_Silent_p.R834R NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 849 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AATTCATCCCGGGCAGAGAAA 0.443 123 195 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17152948 17152948 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:17152948C>G uc001ioo.2 - 9 1037 c.985G>C c.(985-987)GGG>CGG p.G329R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 329 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGGAAGACCCAGGTGTATTC 0.512 59 157 --- --- --- --- PASS DNAJC1 64215 broad.mit.edu 37 10 22209861 22209861 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:22209861C>G uc001irc.2 - 4 690 c.403G>C c.(403-405)GAT>CAT p.D135H DNAJC1_uc001ird.2_Missense_Mutation_p.D21H NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 135 Lumenal (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TGTCGCCAATCTGGAAGTCCA 0.378 46 100 --- --- --- --- PASS YME1L1 10730 broad.mit.edu 37 10 27425295 27425295 + Silent SNP A C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:27425295A>C uc001iti.2 - 6 803 c.621T>G c.(619-621)GGT>GGG p.G207G YME1L1_uc001itj.2_Silent_p.G150G|YME1L1_uc010qdl.1_Silent_p.G117G|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 207 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 AAGTTTTAAAACCCCGAGACT 0.373 14 116 --- --- --- --- PASS ANUBL1 93550 broad.mit.edu 37 10 46121631 46121631 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:46121631C>A uc001jcp.3 - 7 1882 c.1640G>T c.(1639-1641)CGG>CTG p.R547L ANUBL1_uc001jcl.3_Missense_Mutation_p.R67L|ANUBL1_uc001jcm.3_Missense_Mutation_p.R547L|ANUBL1_uc009xmu.2_Missense_Mutation_p.R473L|ANUBL1_uc001jcn.3_Missense_Mutation_p.R473L|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 547 zinc ion binding 0 TGTGATATCCCGAGCCTCAAC 0.398 136 201 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73563143 73563143 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:73563143G>A uc001jrx.3 + 53 8215 c.7838G>A c.(7837-7839)CGC>CAC p.R2613H CDH23_uc001jsg.3_Missense_Mutation_p.R373H|CDH23_uc001jsh.3_Missense_Mutation_p.R373H|CDH23_uc001jsi.3_Missense_Mutation_p.R373H NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2613 Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GTCTTTGTGCGCCCACCCAAC 0.612 3 7 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96534956 96534956 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:96534956G>C uc010qnz.1 + 2 310 c.310G>C c.(310-312)GAA>CAA p.E104Q CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.E82Q NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 104 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCCACTGGCTGAAAGAGCTAA 0.517 138 266 --- --- --- --- PASS TCTN3 26123 broad.mit.edu 37 10 97440360 97440360 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:97440360T>G uc001klb.3 - 13 1703 c.1459A>C c.(1459-1461)AAC>CAC p.N487H TCTN3_uc001kla.3_Missense_Mutation_p.N331H|TCTN3_uc010qoi.1_Missense_Mutation_p.N339H NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 487 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) GAAGTACAGTTTATAGCCTGC 0.448 157 213 --- --- --- --- PASS CRTAC1 55118 broad.mit.edu 37 10 99695956 99695956 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:99695956T>C uc001kou.1 - 3 748 c.392A>G c.(391-393)TAC>TGC p.Y131C CRTAC1_uc001kov.2_Missense_Mutation_p.Y120C|CRTAC1_uc001kot.1_5'UTR NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 131 FG-GAP 2; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GTTGAGGAAGTAGATCTCCTC 0.632 30 78 --- --- --- --- PASS PDZD7 79955 broad.mit.edu 37 10 102781698 102781698 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:102781698C>T uc001kso.1 - 6 939 c.724G>A c.(724-726)GAC>AAC p.D242N PDZD7_uc001ksn.2_Missense_Mutation_p.D242N NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 242 PDZ 2. cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CCACCATGGTCCACTCTGAGG 0.627 42 77 --- --- --- --- PASS LBX1 10660 broad.mit.edu 37 10 102987051 102987051 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:102987051G>A uc001ksx.2 - 2 967 c.822C>T c.(820-822)GAC>GAT p.D274D uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 274 Asp/Glu-rich (highly acidic). muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) CGATCTCTTCGTCTTCCTCGT 0.726 67 73 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118203937 118203937 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:118203937G>T uc001lcl.3 + 4 469 c.368G>T c.(367-369)TGG>TTG p.W123L NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 123 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AATTTAGATTGGATCAACGGT 0.363 98 186 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118434813 118434813 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:118434813G>T uc001lct.2 - 12 1612 c.1507C>A c.(1507-1509)CGG>AGG p.R503R HSPA12A_uc001lcu.2_Silent_p.R420R NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 503 ATP binding ovary(1) 1 all cancers(201;0.0158) ATGATGATCCGGCACTGGTCC 0.672 24 32 --- --- --- --- PASS PTPRE 5791 broad.mit.edu 37 10 129877825 129877825 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr10:129877825G>A uc001lkb.2 + 20 2173 c.1894G>A c.(1894-1896)GCC>ACC p.A632T PTPRE_uc009yat.2_Missense_Mutation_p.A643T|PTPRE_uc009yau.2_Missense_Mutation_p.A632T|PTPRE_uc001lkd.2_Missense_Mutation_p.A574T|PTPRE_uc010quq.1_Intron NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 632 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TCTCTGCAGTGCCGGAGCTGG 0.483 71 169 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6648382 6648382 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:6648382C>T uc001mem.1 - 14 6298 c.5888G>A c.(5887-5889)AGT>AAT p.S1963N NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1963 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGCAGAGGACTGGTGGGGAA 0.617 48 33 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6652605 6652605 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:6652605T>A uc001mem.1 - 8 4119 c.3709A>T c.(3709-3711)ACG>TCG p.T1237S NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1237 Cadherin 12.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGAGTCGTCACCAGTGTT 0.537 143 98 --- --- --- --- PASS GALNTL4 374378 broad.mit.edu 37 11 11292798 11292798 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:11292798C>A uc001mjo.2 - 11 2138 c.1717G>T c.(1717-1719)GAG>TAG p.E573* NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 573 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) TCCTGCAGCTCCAGACAGCGC 0.602 96 70 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55111377 55111377 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:55111377C>A uc010rie.1 + 1 701 c.701C>A c.(700-702)GCC>GAC p.A234D NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 234 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 AGGCATAAAGCCCTGCCTACC 0.413 80 180 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703186 55703186 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:55703186G>A uc010ris.1 - 1 691 c.691C>T c.(691-693)CGC>TGC p.R231C NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGAAAGAGCGGATCTTTAAG 0.453 21 26 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904850 55904850 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:55904850C>T uc010riz.1 - 1 345 c.345G>A c.(343-345)CTG>CTA p.L115L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CCATCACAGCCAGCATCATTA 0.483 112 205 --- --- --- --- PASS OR5B17 219965 broad.mit.edu 37 11 58125912 58125912 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:58125912C>G uc010rke.1 - 1 631 c.631G>C c.(631-633)GTT>CTT p.V211L NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATCAAGGTAACAAGAAGTGCA 0.383 65 92 --- --- --- --- PASS OR5A2 219981 broad.mit.edu 37 11 59189633 59189633 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:59189633G>C uc010rkt.1 - 1 794 c.794C>G c.(793-795)TCC>TGC p.S265C NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGAGTAGCTGGAACTGGGTCG 0.488 51 101 --- --- --- --- PASS MS4A8B 83661 broad.mit.edu 37 11 60470880 60470880 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:60470880C>A uc001npv.2 + 3 452 c.249C>A c.(247-249)CAC>CAA p.H83Q MS4A8B_uc009yne.1_Missense_Mutation_p.H83Q NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 83 Helical; (Potential). H -> R (in Ref. 3; AAH22895). integral to membrane receptor activity 0 GCCTGGCTCACATCGGCCTCG 0.552 76 119 --- --- --- --- PASS RAB3IL1 5866 broad.mit.edu 37 11 61672267 61672267 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:61672267G>C uc001nso.2 - 6 903 c.745C>G c.(745-747)CGA>GGA p.R249G RAB3IL1_uc001nsp.2_Missense_Mutation_p.R223G NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 249 protein binding skin(2)|central_nervous_system(1) 3 ACGTCCTCTCGGTACACCCTT 0.667 4 18 --- --- --- --- PASS MUS81 80198 broad.mit.edu 37 11 65630596 65630596 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:65630596G>T uc001ofv.3 + 7 1019 c.666G>T c.(664-666)CTG>CTT p.L222L MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 222 Interaction with BLM. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) CAGAAGGCCTGAGCTTGCTGA 0.622 Homologous_recombination 52 96 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68174200 68174200 + Silent SNP G T T rs143304197 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:68174200G>T uc001ont.2 + 9 2085 c.2010G>T c.(2008-2010)CCG>CCT p.P670P LRP5_uc009ysg.2_Silent_p.P80P NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 670 Beta-propeller 3.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TGGCCATCCCGCTCACGGGCG 0.582 41 59 --- --- --- --- PASS MRGPRF 116535 broad.mit.edu 37 11 68773465 68773465 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:68773465C>A uc001ooo.3 - 3 680 c.313G>T c.(313-315)GGG>TGG p.G105W MRGPRF_uc001oop.3_Missense_Mutation_p.G105W NM_001098515 NP_001091985 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 105 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AGGAAGCCCCCCGTGTTCAGG 0.632 5 6 --- --- --- --- PASS OR2AT4 341152 broad.mit.edu 37 11 74800303 74800303 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:74800303A>T uc010rro.1 - 1 456 c.456T>A c.(454-456)AGT>AGA p.S152R NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTAGCCAGGCACTGGCTGCCA 0.552 89 105 --- --- --- --- PASS CAPN5 726 broad.mit.edu 37 11 76826625 76826625 + Nonsense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:76826625G>A uc001oxx.2 + 6 1069 c.884G>A c.(883-885)TGG>TAG p.W295* CAPN5_uc009yup.2_Nonsense_Mutation_p.W335*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.W331*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.W335* NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 295 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 AACGGGCCCTGGAGTGACACG 0.662 29 31 --- --- --- --- PASS KCTD14 65987 broad.mit.edu 37 11 77727702 77727702 + Silent SNP C T T rs151197596 byFrequency TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:77727702C>T uc001oyw.3 - 2 730 c.705G>A c.(703-705)ACG>ACA p.T235T NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 235 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TGGTGGGGTACGTCAGGTAGA 0.498 98 117 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82880718 82880718 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:82880718C>A uc001ozx.3 + 8 3686 c.3341C>A c.(3340-3342)ACA>AAA p.T1114K PCF11_uc010rsu.1_Missense_Mutation_p.T1245K NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 1114 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CTTCAAGGCACAAGATTTGAC 0.428 4 245 --- --- --- --- PASS CCDC83 220047 broad.mit.edu 37 11 85627088 85627088 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:85627088C>G uc001pbh.1 + 10 1404 c.892C>G c.(892-894)CAA>GAA p.Q298E CCDC83_uc001pbg.1_Missense_Mutation_p.Q329E|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.Q198E NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 298 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GTCAGAATTGCAACCCACAGA 0.318 73 157 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89424614 89424614 + Splice_Site SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:89424614G>T uc001pda.2 + 12 1491 c.965_splice c.e12-1 p.D322_splice NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTCTATTTCAGATTCACTTTT 0.313 37 67 --- --- --- --- PASS TRIM49 57093 broad.mit.edu 37 11 89531664 89531664 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:89531664C>A uc001pdb.2 - 8 1322 c.993G>T c.(991-993)TGG>TGT p.W331C NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 331 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCTGAACACCCCATGCAAGAA 0.418 42 90 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108384166 108384166 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:108384166G>C uc001pkk.2 - 6 2179 c.2068C>G c.(2068-2070)CCC>GCC p.P690A EXPH5_uc010rvy.1_Missense_Mutation_p.P502A|EXPH5_uc010rvz.1_Missense_Mutation_p.P534A|EXPH5_uc010rwa.1_Missense_Mutation_p.P614A NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 690 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AAGATATTGGGCTGGCTTTTG 0.418 146 207 --- --- --- --- PASS NCAM1 4684 broad.mit.edu 37 11 113102370 113102370 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:113102370C>T uc009yyq.1 + 11 1511 c.817C>T c.(817-819)CTG>TTG p.L273L NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 365 Ig-like C2-type 4.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCGGCAGACTCTGGATGGGCA 0.627 16 55 --- --- --- --- PASS ZBTB16 7704 broad.mit.edu 37 11 114113012 114113012 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:114113012C>A uc001pop.2 + 5 1841 c.1577C>A c.(1576-1578)ACC>AAC p.T526N ZBTB16_uc001poq.2_Missense_Mutation_p.T526N NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 526 C2H2-type 5. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGCAACCGCACCTTCCCCAGC 0.627 12 23 --- --- --- --- PASS ADAMTS15 170689 broad.mit.edu 37 11 130341141 130341141 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:130341141C>T uc010scd.1 + 7 1941 c.1941C>T c.(1939-1941)TCC>TCT p.S647S NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 647 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) ACTCCACCTCCGTCTGTGTCC 0.587 51 79 --- --- --- --- PASS OPCML 4978 broad.mit.edu 37 11 132398959 132398959 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:132398959G>T uc001qgs.2 - 3 572 c.522C>A c.(520-522)GTC>GTA p.V174V OPCML_uc001qgu.2_Silent_p.V167V|OPCML_uc010sck.1_Silent_p.V174V|OPCML_uc001qgt.2_Silent_p.V174V|OPCML_uc010scl.1_Silent_p.V133V NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 174 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CCTTACCCTTGACTGACAGGT 0.473 64 116 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2692027 2692027 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:2692027G>T uc009zdu.1 + 15 2456 c.2143G>T c.(2143-2145)GGG>TGG p.G715W CACNA1C_uc009zdv.1_Missense_Mutation_p.G712W|CACNA1C_uc001qkb.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkc.2_Missense_Mutation_p.G715W|CACNA1C_uc001qke.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkf.2_Missense_Mutation_p.G715W|CACNA1C_uc001qjz.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkd.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkg.2_Missense_Mutation_p.G715W|CACNA1C_uc009zdw.1_Missense_Mutation_p.G715W|CACNA1C_uc001qkh.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkl.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkn.2_Missense_Mutation_p.G715W|CACNA1C_uc001qko.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkp.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkr.2_Missense_Mutation_p.G715W|CACNA1C_uc001qku.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkq.2_Missense_Mutation_p.G715W|CACNA1C_uc001qks.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkt.2_Missense_Mutation_p.G715W|CACNA1C_uc001qka.1_Missense_Mutation_p.G250W|CACNA1C_uc001qki.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkj.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkk.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkm.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkw.2_Missense_Mutation_p.G4W NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 715 II.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GATGTATGATGGGATCATGGC 0.488 33 20 --- --- --- --- PASS ZNF384 171017 broad.mit.edu 37 12 6778300 6778300 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:6778300C>T uc010sfh.1 - 10 1437 c.1229G>A c.(1228-1230)CGG>CAG p.R410Q ZNF384_uc001qpz.2_Missense_Mutation_p.R349Q|ZNF384_uc001qqa.2_Missense_Mutation_p.R349Q|ZNF384_uc001qqb.2_Missense_Mutation_p.R333Q|ZNF384_uc001qqc.2_Missense_Mutation_p.R349Q|ZNF384_uc001qqd.2_Missense_Mutation_p.R294Q|ZNF384_uc001qqe.2_Missense_Mutation_p.R333Q NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 410 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 CGTGTACGCCCGATGACAGTT 0.493 T EWSR1|TAF15 ALL 67 49 --- --- --- --- PASS SLC2A3 6515 broad.mit.edu 37 12 8075586 8075586 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:8075586C>A uc001qtr.2 - 9 1365 c.1103G>T c.(1102-1104)GGG>GTG p.G368V NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 368 Extracellular (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) CAAGATAGCCCCAATACAGAC 0.468 24 22 --- --- --- --- PASS ZNF705A 440077 broad.mit.edu 37 12 8330040 8330040 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:8330040G>A uc001qud.1 + 5 836 c.764G>A c.(763-765)TGT>TAT p.C255Y FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) GGAAAAAAGTGTTATGAATGT 0.393 148 116 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15702147 15702147 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:15702147C>A uc001rcv.1 + 14 2598 c.2424C>A c.(2422-2424)GCC>GCA p.A808A PTPRO_uc001rcw.1_Silent_p.A808A|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 808 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CGTTCATAGCCGTCTCAACAA 0.383 146 97 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21229394 21229394 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:21229394C>G uc010sil.1 + 15 2004 c.1939C>G c.(1939-1941)CTA>GTA p.L647V LST-3TM12_uc010sim.1_Missense_Mutation_p.L586V|LST-3TM12_uc010sin.1_Missense_Mutation_p.L539V Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.M647L(1) large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AGGAGGTATTCTAGTTCCAAT 0.368 165 98 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40037721 40037721 + Splice_Site SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:40037721T>A uc001rmc.2 + 3 369 c.202_splice c.e3+2 p.E68_splice C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 ovary(6) 6 AAATTCCTGGTAAGTCATTCC 0.323 30 39 --- --- --- --- PASS LARP4 113251 broad.mit.edu 37 12 50860745 50860745 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:50860745C>G uc001rwp.1 + 13 1531 c.1387C>G c.(1387-1389)CCT>GCT p.P463A LARP4_uc001rwo.1_Missense_Mutation_p.P469A|LARP4_uc001rwq.1_Missense_Mutation_p.P392A|LARP4_uc001rwr.1_Missense_Mutation_p.P392A|LARP4_uc001rws.1_Missense_Mutation_p.P462A|LARP4_uc009zlr.1_Missense_Mutation_p.P282A|LARP4_uc001rwt.1_Missense_Mutation_p.P54A NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 463 nucleotide binding|RNA binding ovary(1) 1 ATTTTAGAGACCTCATCCTTC 0.393 95 85 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54912486 54912486 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:54912486A>T uc001sgc.3 + 14 1469 c.1390A>T c.(1390-1392)AGT>TGT p.S464C NCKAP1L_uc010sox.1_Missense_Mutation_p.S6C|NCKAP1L_uc010soy.1_Missense_Mutation_p.S414C NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 464 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CTCATTCGTCAGTATCCTCTC 0.473 95 76 --- --- --- --- PASS OR6C75 390323 broad.mit.edu 37 12 55759647 55759647 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:55759647T>A uc010spk.1 + 1 753 c.753T>A c.(751-753)AGT>AGA p.S251R NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 TCTCTTACAGTAGCTGTATCT 0.418 89 70 --- --- --- --- PASS PIP4K2C 79837 broad.mit.edu 37 12 57989764 57989764 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:57989764T>C uc001sou.2 + 4 594 c.463T>C c.(463-465)TCC>CCC p.S155P PIP4K2C_uc001sot.2_Missense_Mutation_p.S155P|PIP4K2C_uc010srs.1_Missense_Mutation_p.S137P|PIP4K2C_uc010srt.1_Intron NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 155 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) CAAAGAAGTATCCAGTGAGGA 0.527 125 65 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 73046262 73046262 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:73046262T>A uc001sxa.2 + 16 2731 c.2701T>A c.(2701-2703)TTA>ATA p.L901I NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 901 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CAGGAATTTATTAAACAGGTA 0.333 11 96 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99640279 99640279 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:99640279C>A uc001tge.1 - 13 2537 c.2120G>T c.(2119-2121)GGG>GTG p.G707V ANKS1B_uc001tgf.1_Missense_Mutation_p.G287V|ANKS1B_uc001tgk.2_Missense_Mutation_p.G4V|ANKS1B_uc009ztt.1_Missense_Mutation_p.G673V NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 707 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CACAAATCCCCCTGCGTTCAT 0.448 67 61 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100795605 100795605 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:100795605C>A uc010svi.1 + 6 1040 c.727C>A c.(727-729)CAG>AAG p.Q243K SLC17A8_uc009ztx.2_Missense_Mutation_p.Q243K NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 243 Vesicular (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 GGTGTTGGTGCAGTACATTGG 0.453 176 186 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104149394 104149394 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:104149394G>A uc001tjw.2 + 63 7071 c.6885G>A c.(6883-6885)GTG>GTA p.V2295V STAB2_uc009zug.2_Intron NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2295 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTCCAGATGTGAACTGCACCT 0.587 119 73 --- --- --- --- PASS ASCL4 121549 broad.mit.edu 37 12 108169159 108169159 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:108169159C>G uc001tmr.2 + 1 998 c.167C>G c.(166-168)GCA>GGA p.A56G NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN achaete-scute complex-like 4 55 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 AGCGGCTGCGCACGGGGATGG 0.756 9 6 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130919366 130919366 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:130919366G>A uc001uil.2 - 11 2279 c.2115C>T c.(2113-2115)GAC>GAT p.D705D RIMBP2_uc001uim.2_Silent_p.D613D|RIMBP2_uc001uin.1_Silent_p.D364D NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 705 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGTCCTCCTCGTCTGAGGCGG 0.597 107 54 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599829 29599829 + Missense_Mutation SNP C A A rs182740 by1000genomes TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:29599829C>A uc001usl.3 + 1 1082 c.1024C>A c.(1024-1026)CTG>ATG p.L342M NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 332 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GGAAGGGTATCTGGGATGCCA 0.547 53 79 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39264593 39264593 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:39264593G>T uc001uwv.2 + 1 3421 c.3112G>T c.(3112-3114)GAT>TAT p.D1038Y NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1038 CSPG 6.|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) GAGTCTGTCAGATATGTCTCA 0.453 165 285 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39454818 39454818 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:39454818G>T uc001uwv.2 + 24 9713 c.9404G>T c.(9403-9405)TGC>TTC p.C3135F NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 3135 Cytoplasmic (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) GTGCTGATGTGCAGGGGCAAG 0.587 29 71 --- --- --- --- PASS COG3 83548 broad.mit.edu 37 13 46067577 46067577 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:46067577G>A uc001vak.2 + 12 1384 c.1283G>A c.(1282-1284)GGG>GAG p.G428E COG3_uc001vai.2_Missense_Mutation_p.G428E|COG3_uc001vaj.1_Missense_Mutation_p.G428E|COG3_uc010tfv.1_Missense_Mutation_p.G265E|COG3_uc010aci.2_Missense_Mutation_p.G204E NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 428 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) GAACTTTGTGGGATTCTTAAA 0.353 82 210 --- --- --- --- PASS EBPL 84650 broad.mit.edu 37 13 50265552 50265552 + Silent SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:50265552A>G uc001vdg.2 - 1 72 c.9T>C c.(7-9)GCT>GCC p.A3A EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_Silent_p.A3A NM_032565 NP_115954 Q9BY08 EBPL_HUMAN emopamil binding related protein, delta8-delta7 3 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity 0 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) GCTCCCACTCAGCGCCCATGC 0.433 6 16 --- --- --- --- PASS C13orf1 57213 broad.mit.edu 37 13 50495673 50495673 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:50495673C>A uc001vdl.2 - 4 696 c.434G>T c.(433-435)GGA>GTA p.G145V C13orf1_uc001vdm.2_Missense_Mutation_p.G106V|C13orf1_uc010tgm.1_RNA|C13orf1_uc010adj.2_Missense_Mutation_p.G145V NM_020456 NP_065189 Q5W111 SPRY7_HUMAN chromosome 13 open reading frame 1 isoform 1 145 B30.2/SPRY. 0 Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117) GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208) CATGTTTTTTCCATTCAAGTA 0.343 63 134 --- --- --- --- PASS SPRY2 10253 broad.mit.edu 37 13 80911698 80911698 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:80911698G>C uc001vli.2 - 2 1121 c.143C>G c.(142-144)GCC>GGC p.A48G SPRY2_uc001vlj.2_Missense_Mutation_p.A48G NM_005842 NP_005833 O43597 SPY2_HUMAN sprouty 2 48 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity ovary(1)|lung(1) 2 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) GTTTCGGATGGCTCTGATCTG 0.612 86 151 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88327697 88327697 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:88327697G>A uc001vln.2 + 2 273 c.54G>A c.(52-54)ATG>ATA p.M18I SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 18 integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGAAAAATGCATAGCTGGA 0.438 88 165 --- --- --- --- PASS FARP1 10160 broad.mit.edu 37 13 99047633 99047633 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:99047633G>T uc001vnj.2 + 13 1653 c.1317G>T c.(1315-1317)CAG>CAT p.Q439H FARP1_uc001vnh.2_Missense_Mutation_p.Q439H NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 439 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GTAACAAGCAGGCGGACGGAG 0.687 34 28 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101890194 101890194 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:101890194G>T uc001vox.1 - 12 1535 c.1346C>A c.(1345-1347)TCT>TAT p.S449Y NALCN_uc001voy.2_Missense_Mutation_p.S164Y|NALCN_uc001voz.2_Missense_Mutation_p.S449Y|NALCN_uc001vpa.2_Missense_Mutation_p.S449Y NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 449 Helical; Name=S3 of repeat II; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTGTGGAGAGATGAGCTAAT 0.338 70 118 --- --- --- --- PASS ITGBL1 9358 broad.mit.edu 37 13 102367913 102367913 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:102367913G>A uc001vpb.2 + 11 1613 c.1394G>A c.(1393-1395)GGG>GAG p.G465E ITGBL1_uc010agb.2_Missense_Mutation_p.G416E|ITGBL1_uc001vpc.3_Missense_Mutation_p.G324E NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 465 X.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTATTGCAGGGAATGGAATA 0.338 140 330 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33291723 33291723 + Missense_Mutation SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:33291723T>G uc001wrq.2 + 13 4874 c.4704T>G c.(4702-4704)ATT>ATG p.I1568M NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1568 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTTCATCTATTGAGTCCCTTT 0.403 153 315 --- --- --- --- PASS SLC25A21 89874 broad.mit.edu 37 14 37180664 37180664 + Silent SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:37180664T>A uc001wtz.1 - 7 772 c.462A>T c.(460-462)GCA>GCT p.A154A NM_030631 NP_085134 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial 154 Solcar 2. lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding skin(1) 1 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGATTTGTCTTGCATAACCCA 0.438 56 101 --- --- --- --- PASS GCH1 2643 broad.mit.edu 37 14 55312518 55312518 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:55312518C>A uc001xbh.1 - 5 755 c.594G>T c.(592-594)CGG>CGT p.R198R GCH1_uc001xbi.1_Silent_p.R198R|GCH1_uc001xbj.1_Silent_p.R198R|GCH1_uc001xbk.1_Silent_p.R198R|GCH1_uc010aol.1_Intron|GCH1_uc001xbl.1_Silent_p.R198R NM_001024024 NP_001019195 P30793 GCH1_HUMAN GTP cyclohydrolase 1 isoform 1 198 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding skin(1) 1 CTCCAGCAGGCCGCAAGGCTT 0.468 76 184 --- --- --- --- PASS GCH1 2643 broad.mit.edu 37 14 55312519 55312519 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:55312519C>A uc001xbh.1 - 5 754 c.593G>T c.(592-594)CGG>CTG p.R198L GCH1_uc001xbi.1_Missense_Mutation_p.R198L|GCH1_uc001xbj.1_Missense_Mutation_p.R198L|GCH1_uc001xbk.1_Missense_Mutation_p.R198L|GCH1_uc010aol.1_Intron|GCH1_uc001xbl.1_Missense_Mutation_p.R198L NM_001024024 NP_001019195 P30793 GCH1_HUMAN GTP cyclohydrolase 1 isoform 1 198 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding skin(1) 1 TCCAGCAGGCCGCAAGGCTTC 0.473 76 184 --- --- --- --- PASS SIX1 6495 broad.mit.edu 37 14 61115580 61115580 + Missense_Mutation SNP G C C rs80356459 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:61115580G>C uc001xfb.3 - 1 576 c.328C>G c.(328-330)CGG>GGG p.R110G NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 110 R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction). branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CGGCGCACCCGATATTTGCCC 0.632 64 83 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73718432 73718432 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:73718432G>T uc010ttx.1 + 8 894 c.731G>T c.(730-732)CGG>CTG p.R244L PAPLN_uc001xnw.3_Missense_Mutation_p.R217L|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R244L NM_173462 NP_775733 O95428 PPN_HUMAN papilin 244 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GAGGCGGCCCGGGCCCTGCCA 0.672 25 39 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79433705 79433705 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:79433705C>G uc001xun.2 + 10 2304 c.1813C>G c.(1813-1815)CAG>GAG p.Q605E NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.Q730E NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 978 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGTGGTCACTCAGGTTATCAA 0.403 50 68 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106054595 106054595 + RNA SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:106054595C>G uc010tyt.1 - 3650 c.62891G>C uc001yrs.2_RNA|uc001yrt.2_Missense_Mutation_p.Q52H Parts of antibodies, mostly variable regions. 0 CGGTCACGTTCTGTCCGCTTT 0.642 31 53 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106311969 106311969 + RNA SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:106311969A>G uc010tyt.1 - 3608 c.56954T>C uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.C29R|uc001ysk.1_Missense_Mutation_p.C29R|uc001ysl.1_Missense_Mutation_p.C29R|uc001ysm.1_5'UTR|uc001ysn.1_5'UTR|uc001yso.1_5'UTR Parts of antibodies, mostly variable regions. 0 GGGTGTCTGCACCCTGATATG 0.582 52 94 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107199225 107199225 + RNA SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr14:107199225G>T uc010tyt.1 - 21 c.1473C>A Parts of antibodies, mostly variable regions. 0 TCCACCAGCTGCACCTCACAC 0.547 86 139 --- --- --- --- PASS C15orf53 400359 broad.mit.edu 37 15 38990597 38990597 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:38990597C>G uc001zkf.1 + 2 401 c.391C>G c.(391-393)CGC>GGC p.R131G NM_207444 NP_997327 Q8NAA6 CO053_HUMAN hypothetical protein LOC400359 131 0 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) AACTGTGCCCCGCCGTTCACC 0.547 24 15 --- --- --- --- PASS DUOX2 50506 broad.mit.edu 37 15 45390241 45390241 + Missense_Mutation SNP C A A rs144254445 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:45390241C>A uc010bea.2 - 27 3734 c.3531G>T c.(3529-3531)CAG>CAT p.Q1177H DUOX2_uc001zun.2_Missense_Mutation_p.Q1177H NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1177 Extracellular (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AATAGAACTTCTGGGGAAGCT 0.562 55 36 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48766523 48766523 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:48766523C>T uc001zwx.1 - 34 4467 c.4139G>A c.(4138-4140)TGC>TAC p.C1380Y NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1380 EGF-like 23; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGTATTCTTGCAGTCTGCATG 0.423 57 33 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51750748 51750748 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:51750748T>A uc002abf.2 - 35 8312 c.8087A>T c.(8086-8088)CAG>CTG p.Q2696L DMXL2_uc002abd.2_Missense_Mutation_p.Q788L|DMXL2_uc010ufy.1_Missense_Mutation_p.Q2697L|DMXL2_uc010bfa.2_Missense_Mutation_p.Q2060L NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2696 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TATGTATGACTGACAGGCCAG 0.358 63 36 --- --- --- --- PASS UACA 55075 broad.mit.edu 37 15 70957052 70957052 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:70957052C>G uc002asr.2 - 17 4166 c.4062G>C c.(4060-4062)CAG>CAC p.Q1354H UACA_uc010uke.1_Missense_Mutation_p.Q1245H|UACA_uc002asq.2_Missense_Mutation_p.Q1341H NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 1354 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TGTCAATCAGCTGGCTCTGCC 0.512 58 35 --- --- --- --- PASS NR2E3 10002 broad.mit.edu 37 15 72106440 72106440 + Missense_Mutation SNP A C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:72106440A>C uc002ati.2 + 8 1272 c.1082A>C c.(1081-1083)CAC>CCC p.H361P NR2E3_uc002ath.1_Missense_Mutation_p.H361P NM_014249 NP_055064 Q9Y5X4 NR2E3_HUMAN photoreceptor-specific nuclear receptor isoform 361 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 AAGGCCCACCACCCCAGCCAG 0.622 3 15 --- --- --- --- PASS CYP11A1 1583 broad.mit.edu 37 15 74632057 74632057 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:74632057G>A uc002axt.2 - 6 1183 c.1028C>T c.(1027-1029)GCA>GTA p.A343V CYP11A1_uc002axs.2_Missense_Mutation_p.A185V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A185V|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Intron|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.A123V NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 343 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CAGGTTGCGTGCCATCTCATA 0.627 42 28 --- --- --- --- PASS ZSCAN2 54993 broad.mit.edu 37 15 85164140 85164140 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr15:85164140C>A uc002bkr.2 + 3 940 c.714C>A c.(712-714)ATC>ATA p.I238I ZSCAN2_uc010bmz.1_Silent_p.I236I|ZSCAN2_uc010bna.2_Silent_p.I88I|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 238 C2H2-type 1. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCCACCTCATCACACACGAGA 0.493 5 319 --- --- --- --- PASS SNX29 92017 broad.mit.edu 37 16 12571616 12571616 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:12571616G>T uc002dby.3 + 12 979 c.923G>T c.(922-924)CGC>CTC p.R308L NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 308 PX. cell communication phosphatidylinositol binding ovary(1) 1 AATATTTATCGCCGGTATACA 0.403 25 83 --- --- --- --- PASS C16orf62 57020 broad.mit.edu 37 16 19659206 19659206 + Splice_Site SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:19659206T>G uc002dgn.1 + 24 2040 c.2028_splice c.e24+2 p.H676_splice C16orf62_uc002dgo.1_Splice_Site_p.H609_splice|C16orf62_uc002dgp.1_Splice_Site_p.H425_splice NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 integral to membrane ovary(1) 1 TTGATTCATGTAAGTATTTTC 0.299 159 255 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20387453 20387453 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:20387453G>T uc002dhc.1 - 4 703 c.480C>A c.(478-480)AAC>AAA p.N160K NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 160 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GCTCGCTGCTGTTGAACAAAA 0.488 61 124 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21065766 21065766 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:21065766C>A uc010vbe.1 - 28 4014 c.4014G>T c.(4012-4014)GGG>GGT p.G1338G NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1338 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CCGTGAGGGCCCCGAGAGTGA 0.547 26 53 --- --- --- --- PASS POLR3E 55718 broad.mit.edu 37 16 22314317 22314317 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:22314317G>T uc002dkk.2 + 2 184 c.28G>T c.(28-30)GTA>TTA p.V10L POLR3E_uc002dkj.1_Missense_Mutation_p.V10L|POLR3E_uc002dkm.2_Intron|POLR3E_uc010vbr.1_Missense_Mutation_p.V10L|POLR3E_uc002dkl.2_Missense_Mutation_p.V10L|POLR3E_uc010vbs.1_Missense_Mutation_p.V10L|POLR3E_uc010vbt.1_5'UTR NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 10 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) TGACCCAGTTGTACAGGAGGT 0.572 127 170 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30734316 30734316 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:30734316G>C uc002dze.1 + 24 4310 c.3925G>C c.(3925-3927)GTG>CTG p.V1309L SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.V1104L|SRCAP_uc010bzz.1_Missense_Mutation_p.V879L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1309 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TACAGGCGTGGTGAAGATTGT 0.527 22 174 --- --- --- --- PASS PRSS36 146547 broad.mit.edu 37 16 31160456 31160456 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:31160456G>C uc002ebd.2 - 4 269 c.210C>G c.(208-210)CAC>CAG p.H70Q PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Missense_Mutation_p.H70Q|PRSS36_uc010vfh.1_Missense_Mutation_p.H70Q NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 70 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 CCCCGCAGATGTGGCCACCTC 0.682 4 3 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50828243 50828243 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:50828243G>T uc002egp.1 + 18 3005 c.2590G>T c.(2590-2592)GTT>TTT p.V864F CYLD_uc010cbs.1_Missense_Mutation_p.V861F|CYLD_uc002egq.1_Missense_Mutation_p.V861F|CYLD_uc002egr.1_Missense_Mutation_p.V861F NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 864 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) GTTATTTGCTGTTCTCTGCAT 0.478 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 146 256 --- --- --- --- PASS RSPRY1 89970 broad.mit.edu 37 16 57243027 57243027 + Silent SNP T G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:57243027T>G uc002elb.2 + 4 722 c.444T>G c.(442-444)GTT>GTG p.V148V RSPRY1_uc002elc.2_Silent_p.V148V|RSPRY1_uc002eld.2_Silent_p.V148V NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 148 extracellular region zinc ion binding ovary(1) 1 TAATTAGAGTTATTCCACTGG 0.333 6 515 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75268934 75268934 + Silent SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:75268934C>G uc002fdv.2 - 5 1986 c.1863G>C c.(1861-1863)CTG>CTC p.L621L BCAR1_uc002fdt.2_Silent_p.L74L|BCAR1_uc002fdu.2_Silent_p.L411L|BCAR1_uc010cgu.2_Silent_p.L610L|BCAR1_uc010vna.1_Silent_p.L619L|BCAR1_uc010vnb.1_Silent_p.L667L|BCAR1_uc002fdw.2_Silent_p.L621L|BCAR1_uc010vnc.1_Silent_p.L473L|BCAR1_uc010vnd.1_Silent_p.L639L|BCAR1_uc002fdx.2_Silent_p.L639L NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 621 actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTTGGGGTGCAGGGTGCCAC 0.652 39 73 --- --- --- --- PASS KARS 3735 broad.mit.edu 37 16 75669923 75669923 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:75669923C>A uc002feq.2 - 5 604 c.556G>T c.(556-558)GGG>TGG p.G186W KARS_uc002fer.2_Missense_Mutation_p.G214W|KARS_uc002fes.2_Missense_Mutation_p.G30W|KARS_uc010cgz.2_Missense_Mutation_p.G30W NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 186 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CCAGGATTCCCCTGAACTCCA 0.383 38 92 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C A A rs121912655 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:7577556C>A uc002gim.2 - 7 919 c.725G>T c.(724-726)TGC>TTC p.C242F TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(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) GCCGCCCATGCAGGAACTGTT 0.577 111 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) 53 55 --- --- --- --- PASS RAI1 10743 broad.mit.edu 37 17 17700660 17700660 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:17700660G>A uc002grm.2 + 3 4867 c.4398G>A c.(4396-4398)CGG>CGA p.R1466R RAI1_uc002grn.1_Silent_p.R1466R NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1466 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) TGGAGAAGCGGCCCTATCTTG 0.667 18 13 --- --- --- --- PASS TBC1D29 26083 broad.mit.edu 37 17 28887175 28887175 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:28887175G>T uc002hfh.2 + 2 202 c.53G>T c.(52-54)TGG>TTG p.W18L TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 18 Rab-GAP TBC; truncated. intracellular Rab GTPase activator activity 0 Myeloproliferative disorder(56;0.0255) TCATTCAGCTGGCTTCTCCGG 0.612 8 18 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29221655 29221655 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:29221655C>A uc002hfs.1 + 22 5717 c.5371C>A c.(5371-5373)CAA>AAA p.Q1791K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1791 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGGTAATAGACAAGCTAGTAT 0.338 4 94 --- --- --- --- PASS KRT27 342574 broad.mit.edu 37 17 38938435 38938435 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:38938435G>T uc002hvg.2 - 1 352 c.311C>A c.(310-312)GCC>GAC p.A104D NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 104 Rod.|Coil 1A. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) CTCCTCTAGGGCTCGAACATT 0.542 8 242 --- --- --- --- PASS STAT3 6774 broad.mit.edu 37 17 40474352 40474352 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:40474352G>T uc002hzl.1 - 21 2289 c.2049C>A c.(2047-2049)TTC>TTA p.F683L STAT3_uc002hzk.1_Missense_Mutation_p.F683L|STAT3_uc002hzm.1_Missense_Mutation_p.F683L|STAT3_uc010wgh.1_Missense_Mutation_p.F585L|STAT3_uc002hzn.1_Missense_Mutation_p.F683L NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 683 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) AATACTTTCCGAATGCCTCCT 0.458 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome 4 222 --- --- --- --- PASS NPEPPS 9520 broad.mit.edu 37 17 45668158 45668158 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:45668158C>T uc002ilr.3 + 10 1394 c.1171C>T c.(1171-1173)CCA>TCA p.P391S NPEPPS_uc010wkt.1_Missense_Mutation_p.P387S|NPEPPS_uc010wku.1_Missense_Mutation_p.P355S|NPEPPS_uc010wkv.1_5'UTR NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 391 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 CCACTGCTTCCCAGAGTATGA 0.413 31 290 --- --- --- --- PASS SP2 6668 broad.mit.edu 37 17 45994334 45994334 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:45994334G>C uc002imk.2 + 3 1034 c.897G>C c.(895-897)CAG>CAC p.Q299H SP2_uc002iml.2_Missense_Mutation_p.Q292H|uc002imm.2_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Sp2 transcription factor 299 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding 0 CTGTGGTCCAGCAGGTCCAGG 0.647 9 119 --- --- --- --- PASS ABCA5 23461 broad.mit.edu 37 17 67282383 67282383 + Nonsense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:67282383C>T uc002jif.2 - 15 3329 c.2111G>A c.(2110-2112)TGG>TAG p.W704* ABCA5_uc002jic.2_5'UTR|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.W704*|ABCA5_uc002jih.2_Nonsense_Mutation_p.W704*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.W704* NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 704 ABC transporter 1. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GCCGATCCCCCATTTACTTTT 0.338 33 27 --- --- --- --- PASS TMEM104 54868 broad.mit.edu 37 17 72832362 72832362 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:72832362G>A uc002jls.3 + 10 1189 c.1027G>A c.(1027-1029)GCG>ACG p.A343T TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.A343T NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 343 Extracellular (Potential). integral to membrane 0 all_lung(278;0.23) CCTCAACTTCGCGCGCTGTGA 0.612 207 300 --- --- --- --- PASS FDXR 2232 broad.mit.edu 37 17 72860614 72860614 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:72860614C>A uc002jly.2 - 8 877 c.790G>T c.(790-792)GAC>TAC p.D264Y FDXR_uc010wri.1_Missense_Mutation_p.D212Y|FDXR_uc010wrj.1_Missense_Mutation_p.D262Y|FDXR_uc002jlw.2_Missense_Mutation_p.D21Y|FDXR_uc002jlx.2_Missense_Mutation_p.D270Y|FDXR_uc002jmc.2_Intron|FDXR_uc010wrk.1_Missense_Mutation_p.D295Y|FDXR_uc010wrl.1_Missense_Mutation_p.D307Y|FDXR_uc002jma.2_Missense_Mutation_p.D265Y|FDXR_uc010wrm.1_Missense_Mutation_p.D224Y|FDXR_uc002jlz.2_Missense_Mutation_p.D256Y|FDXR_uc002jmb.2_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 264 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) TTGATCTTGTCCTGGAGACCC 0.607 OREG0024720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 67 --- --- --- --- PASS SIRT7 51547 broad.mit.edu 37 17 79870473 79870473 + Missense_Mutation SNP A C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr17:79870473A>C uc002kcj.1 - 10 1055 c.1022T>G c.(1021-1023)TTC>TGC p.F341C PCYT2_uc010wva.1_5'Flank|PCYT2_uc010wvb.1_5'Flank|PCYT2_uc002kce.1_5'Flank|PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.F192C|SIRT7_uc002kcl.1_Missense_Mutation_p.F259C NM_016538 NP_057622 Q9NRC8 SIRT7_HUMAN sirtuin 7 341 chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGCCAGTGAGAAAATGGGATC 0.647 4 24 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22807238 22807238 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr18:22807238C>G uc002kvk.2 - 4 891 c.644G>C c.(643-645)AGT>ACT p.S215T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S215T|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 215 C2H2-type 5. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTGTAAGGAACTAGAGGACAG 0.493 T PAX5 ALL 60 73 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44561184 44561184 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr18:44561184G>T uc002lcr.1 - 1 805 c.452C>A c.(451-453)CCC>CAC p.P151H KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 151 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CTCAGCTCTGGGCTCGCGACT 0.662 79 174 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63548089 63548089 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr18:63548089G>A uc002ljz.2 + 12 2642 c.2317G>A c.(2317-2319)GCG>ACG p.A773T CDH7_uc002lkb.2_Missense_Mutation_p.A773T NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 773 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A773T(1) ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TAAACGACTCGCGGACATGTA 0.408 80 139 --- --- --- --- PASS C18orf62 284274 broad.mit.edu 37 18 73130763 73130763 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr18:73130763T>C uc002lma.1 - 2 309 c.238A>G c.(238-240)AGG>GGG p.R80G C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_RNA NM_001037331 NP_001032408 Q3B7S5 CR062_HUMAN hypothetical protein LOC284274 80 integral to membrane 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) OV - Ovarian serous cystadenocarcinoma(15;6.21e-06) ctgttggcccttttccagtct 0.109 4 445 --- --- --- --- PASS MAP2K2 5605 broad.mit.edu 37 19 4099227 4099227 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:4099227C>A uc002lzk.2 - 7 1145 c.891G>T c.(889-891)CGG>CGT p.R297R MAP2K2_uc002lzj.2_Silent_p.R107R NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 297 Protein kinase.|Pro-rich. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGCCTCGGCCGAGGCGAGA 0.711 Cardiofaciocutaneous_syndrome 8 7 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087266 9087266 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:9087266A>T uc002mkp.2 - 1 4753 c.4549T>A c.(4549-4551)TTG>ATG p.L1517M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1517 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGCTGATCCAACGTTGTTGAA 0.448 20 385 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9581175 9581175 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:9581175C>T uc002mlp.1 - 7 551 c.341G>A c.(340-342)AGT>AAT p.S114N ZNF560_uc010dwr.1_Missense_Mutation_p.S8N NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 114 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CACAGCCACACTGTCAAAGGT 0.498 109 58 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10468502 10468502 + Missense_Mutation SNP C A A rs148148659 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:10468502C>A uc002moc.3 - 17 2782 c.2404G>T c.(2404-2406)GCC>TCC p.A802S TYK2_uc010dxe.2_Missense_Mutation_p.A617S|TYK2_uc002mod.2_Missense_Mutation_p.A802S NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 802 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) AGGAGGGTGGCGCCAAACCCC 0.667 19 25 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11114047 11114047 + Nonsense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:11114047G>T uc002mqf.3 + 13 2259 c.1975G>T c.(1975-1977)GAA>TAA p.E659* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E659*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E659*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E659* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 659 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGATAGTGAAGAAAGTGGCTC 0.473 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 147 153 --- --- --- --- PASS B3GNT3 10331 broad.mit.edu 37 19 17918884 17918884 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:17918884C>T uc002nhk.1 + 2 353 c.268C>T c.(268-270)CGC>TGC p.R90C B3GNT3_uc002nhl.1_Missense_Mutation_p.R90C|B3GNT3_uc010ebd.1_Missense_Mutation_p.R90C|B3GNT3_uc010ebe.1_Missense_Mutation_p.R90C NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 90 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CAGACACTGCCGCCACTTTCC 0.642 14 9 --- --- --- --- PASS TMEM59L 25789 broad.mit.edu 37 19 18726810 18726810 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:18726810G>T uc002njy.3 + 4 521 c.434G>T c.(433-435)GGG>GTG p.G145V TMEM59L_uc010ebu.1_Missense_Mutation_p.G145V NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 145 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 GCTCCAAGTGGGGCCCTCTCC 0.493 147 111 --- --- --- --- PASS ZNF93 81931 broad.mit.edu 37 19 20044388 20044388 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:20044388A>T uc002non.2 + 4 735 c.624A>T c.(622-624)AAA>AAT p.K208N NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 208 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 AATGTGGCAAAGCCTTTAAGT 0.373 40 26 --- --- --- --- PASS SHKBP1 92799 broad.mit.edu 37 19 41086391 41086391 + Missense_Mutation SNP G A A rs145900196 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:41086391G>A uc002oob.2 + 7 611 c.562G>A c.(562-564)GGA>AGA p.G188R SHKBP1_uc002ooc.2_Missense_Mutation_p.G188R|SHKBP1_uc002ood.2_Missense_Mutation_p.G188R|SHKBP1_uc010xvl.1_Missense_Mutation_p.G111R|SHKBP1_uc002ooe.2_Missense_Mutation_p.G25R|SHKBP1_uc002oof.2_Missense_Mutation_p.G25R|SHKBP1_uc010xvm.1_Missense_Mutation_p.G25R|SHKBP1_uc010xvn.1_Missense_Mutation_p.G66R NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 188 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCACCCTCAGGTACGTTTCT 0.617 33 56 --- --- --- --- PASS DMRTC2 63946 broad.mit.edu 37 19 42353006 42353006 + Silent SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:42353006G>C uc002ors.2 + 5 674 c.591G>C c.(589-591)CTG>CTC p.L197L DMRTC2_uc002orr.1_Silent_p.L74L|DMRTC2_uc010xwe.1_Silent_p.L197L NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 197 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 GCCGCCTGCTGTACCAAGAAC 0.468 78 60 --- --- --- --- PASS PSG9 5678 broad.mit.edu 37 19 43762597 43762597 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:43762597G>T uc002owd.3 - 5 1099 c.1000C>A c.(1000-1002)CTC>ATC p.L334I PSG9_uc002owe.3_Missense_Mutation_p.L241I|PSG9_uc010xwm.1_Missense_Mutation_p.L241I|PSG9_uc002owf.3_Missense_Mutation_p.L148I|PSG9_uc002owg.2_Missense_Mutation_p.L241I|PSG9_uc002owh.2_Missense_Mutation_p.L148I NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 334 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) ATTCTGGGGAGGTCTGGACCA 0.493 213 91 --- --- --- --- PASS ZNF284 342909 broad.mit.edu 37 19 44590676 44590676 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:44590676G>A uc002oyg.1 + 5 1261 c.1045G>A c.(1045-1047)GGA>AGA p.G349R ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 349 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) TGAAGAATGTGGAAGGAGCTT 0.398 85 54 --- --- --- --- PASS ZNF611 81856 broad.mit.edu 37 19 53210037 53210037 + Missense_Mutation SNP G C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:53210037G>C uc002pzz.2 - 7 588 c.271C>G c.(271-273)CAA>GAA p.Q91E ZNF611_uc010eqc.2_Missense_Mutation_p.Q21E|ZNF611_uc010ydo.1_Missense_Mutation_p.Q21E|ZNF611_uc010ydr.1_Missense_Mutation_p.Q22E|ZNF611_uc010ydp.1_Missense_Mutation_p.Q91E|ZNF611_uc010ydq.1_Missense_Mutation_p.Q91E|ZNF611_uc002qaa.3_Missense_Mutation_p.Q21E NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 91 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCATGTCTTTGCAATGTCCCT 0.378 310 203 --- --- --- --- PASS MIR521-1 574494 broad.mit.edu 37 19 54251905 54251905 + RNA SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:54251905C>T hsa-mir-521-1|MI0003176 + c.16C>T MIR522_hsa-mir-522|MI0003177_5'Flank 0 GGCTGTGACCCTCCAAAGGGA 0.403 100 90 --- --- --- --- PASS LILRA1 11024 broad.mit.edu 37 19 55107869 55107869 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:55107869T>A uc002qgh.1 + 7 1356 c.1174T>A c.(1174-1176)TCG>ACG p.S392T LILRA2_uc010yfg.1_Missense_Mutation_p.S390T|LILRA1_uc010yfh.1_Missense_Mutation_p.S392T NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 392 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CTCAGCCCACTCGGGGACCTA 0.587 159 86 --- --- --- --- PASS ZSCAN5A 79149 broad.mit.edu 37 19 56733262 56733262 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:56733262C>A uc002qmq.2 - 5 1339 c.1173G>T c.(1171-1173)AAG>AAT p.K391N ZSCAN5A_uc010ygi.1_Missense_Mutation_p.K274N|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.K391N|ZSCAN5A_uc002qms.1_Missense_Mutation_p.K390N NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 391 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 GCATGAAGCGCTTCCCACAGA 0.507 35 23 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58565155 58565155 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:58565155G>A uc002qrc.1 + 6 1210 c.963G>A c.(961-963)CCG>CCA p.P321P NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 321 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGCCCTTTCCGTGCCCCGAGT 0.627 64 30 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58579304 58579304 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:58579304C>A uc010yhq.1 + 5 1584 c.1488C>A c.(1486-1488)CAC>CAA p.H496Q ZNF135_uc002qre.2_Missense_Mutation_p.H484Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.H442Q|ZNF135_uc002qrg.2_Missense_Mutation_p.H454Q|ZNF135_uc010yhr.1_Missense_Mutation_p.H305Q NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 496 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TCACCCAACACCAGCGAATCC 0.567 72 46 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2380260 2380260 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:2380260C>A uc002wfy.1 + 6 787 c.726C>A c.(724-726)TAC>TAA p.Y242* TGM6_uc010gal.1_Nonsense_Mutation_p.Y242* NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 242 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AGGGCAAGTACGGCGGCGGCA 0.652 38 82 --- --- --- --- PASS C20orf94 128710 broad.mit.edu 37 20 10603960 10603960 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:10603960C>G uc010zre.1 + 8 1340 c.1160C>G c.(1159-1161)ACT>AGT p.T387S NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 387 protein binding 0 GCCACAAACACTGAAAGATTA 0.433 61 118 --- --- --- --- PASS SSTR4 6754 broad.mit.edu 37 20 23016993 23016993 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:23016993C>T uc002wsr.2 + 1 937 c.873C>T c.(871-873)ACC>ACT p.T291T NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 291 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TTGATGCCACCGTCAACCACG 0.572 39 157 --- --- --- --- PASS CST5 1473 broad.mit.edu 37 20 23858245 23858245 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:23858245C>T uc002wtr.1 - 2 309 c.242G>A c.(241-243)GGG>GAG p.G81E NM_001900 NP_001891 P28325 CYTD_HUMAN cystatin D precursor 81 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding 0 GTAGTTCACCCCACCCACGAT 0.527 96 137 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24646078 24646078 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:24646078G>A uc002wtw.1 + 4 1348 c.715G>A c.(715-717)GGC>AGC p.G239S NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 239 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 CATTGGGACTGGCGTCTATGT 0.647 91 194 --- --- --- --- PASS DNMT3B 1789 broad.mit.edu 37 20 31394017 31394017 + Silent SNP A G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:31394017A>G uc002wyc.2 + 22 2625 c.2304A>G c.(2302-2304)TTA>TTG p.L768L DNMT3B_uc002wyd.2_Silent_p.L748L|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Silent_p.L760L|DNMT3B_uc002wyg.2_Intron|DNMT3B_uc010geg.2_Intron|DNMT3B_uc010geh.2_RNA NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 768 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 TTCTCCAGTTAAAGAAAGTAC 0.453 90 124 --- --- --- --- PASS CTNNBL1 56259 broad.mit.edu 37 20 36500353 36500353 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:36500353C>T uc010zvw.1 + 17 1721 c.1630C>T c.(1630-1632)CGG>TGG p.R544W CTNNBL1_uc002xhh.2_Missense_Mutation_p.R357W|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.R292W NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 544 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) CGGGGACGGCCGGAGCCCGGA 0.587 55 119 --- --- --- --- PASS SGK2 10110 broad.mit.edu 37 20 42196603 42196603 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:42196603G>T uc002xkv.2 + 4 591 c.372G>T c.(370-372)AAG>AAT p.K124N SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.K64N|SGK2_uc010ggm.2_Missense_Mutation_p.K64N|SGK2_uc002xks.2_Missense_Mutation_p.K64N|SGK2_uc002xku.2_Missense_Mutation_p.K64N|SGK2_uc002xkq.1_Missense_Mutation_p.K64N NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 124 Protein kinase. ATP (By similarity). intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ATGCAGTGAAGGTACTACAGA 0.493 82 153 --- --- --- --- PASS JPH2 57158 broad.mit.edu 37 20 42744475 42744475 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:42744475G>T uc002xli.1 - 4 2713 c.1840C>A c.(1840-1842)CCT>ACT p.P614T NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 614 Pro-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCGCGTGCAGGCTCGGGGCCT 0.731 8 14 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46313280 46313280 + Silent SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:46313280G>T uc002xto.2 - 6 1113 c.783C>A c.(781-783)ATC>ATA p.I261I SULF2_uc002xtr.2_Silent_p.I261I|SULF2_uc002xtq.2_Silent_p.I261I NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 261 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TGTAGCGCATGATCCAGTGTT 0.602 29 45 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47259002 47259002 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:47259002C>T uc002xtw.1 - 28 3650 c.3627G>A c.(3625-3627)CGG>CGA p.R1209R PREX1_uc002xtv.1_Silent_p.R506R NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1209 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CAGATGGGATCCGCATGTCAC 0.572 25 71 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47269240 47269240 + Missense_Mutation SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:47269240A>T uc002xtw.1 - 21 2374 c.2351T>A c.(2350-2352)CTG>CAG p.L784Q PREX1_uc002xtv.1_Missense_Mutation_p.L81Q NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 784 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCACTGGTACAGGCCCTGCCA 0.647 20 45 --- --- --- --- PASS SNAI1 6615 broad.mit.edu 37 20 48600469 48600469 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:48600469T>A uc002xuz.2 + 2 261 c.191T>A c.(190-192)GTC>GAC p.V64D NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 64 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TGGGACTCTGTCCTGGCGCCC 0.657 43 77 --- --- --- --- PASS PPP1R3D 5509 broad.mit.edu 37 20 58514404 58514404 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr20:58514404C>A uc002ybb.2 - 1 949 c.583G>T c.(583-585)GTG>TTG p.V195L C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 195 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) ACGTTGCACACGCGCACCGTA 0.701 18 27 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28315775 28315775 + Silent SNP A T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr21:28315775A>T uc002ymg.2 - 3 2058 c.1329T>A c.(1327-1329)CTT>CTA p.L443L NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 443 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CAATGCTGGTAAGGATGGAAG 0.453 34 75 --- --- --- --- PASS KRTAP24-1 643803 broad.mit.edu 37 21 31654547 31654547 + Missense_Mutation SNP G T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr21:31654547G>T uc002ynv.2 - 1 730 c.704C>A c.(703-705)CCC>CAC p.P235H NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 235 6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].|5. keratin filament structural molecule activity 0 AAAGGTACTGGGTATATAGCT 0.428 97 168 --- --- --- --- PASS CHAF1B 8208 broad.mit.edu 37 21 37763859 37763859 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr21:37763859C>A uc002yvj.2 + 4 408 c.270C>A c.(268-270)ATC>ATA p.I90I NM_005441 NP_005432 Q13112 CAF1B_HUMAN chromatin assembly factor 1 subunit B 90 WD 2. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding ovary(1)|skin(1) 2 ATGCTGTCATCCTATTGTGGA 0.418 26 73 --- --- --- --- PASS XKR3 150165 broad.mit.edu 37 22 17288960 17288960 + Nonsense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr22:17288960C>A uc002zlv.2 - 2 102 c.4G>T c.(4-6)GAG>TAG p.E2* XKR3_uc011agf.1_Nonsense_Mutation_p.E2* NM_175878 NP_787074 Q5GH77 XKR3_HUMAN X Kell blood group precursor-related family, 2 integral to membrane|plasma membrane large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AACACTGTCTCCATTCTCAGG 0.383 83 164 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18300435 18300435 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr22:18300435C>T uc002zng.3 - 26 5345 c.4992G>A c.(4990-4992)AAG>AAA p.K1664K MICAL3_uc011agl.1_Silent_p.K1580K|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1664 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TGGCTTCATGCTTCAGGGTGG 0.682 13 17 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23063529 23063529 + RNA SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr22:23063529G>A uc011aim.1 + 167 c.9728G>A Parts of antibodies, mostly variable regions. 0 ATCCCAGACCGATTCTCTGGC 0.537 32 79 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26701973 26701973 + Silent SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr22:26701973C>T uc003acb.2 + 6 1533 c.1377C>T c.(1375-1377)GCC>GCT p.A459A SEZ6L_uc003acc.2_Silent_p.A459A|SEZ6L_uc011akc.1_Silent_p.A459A|SEZ6L_uc003acd.2_Silent_p.A459A|SEZ6L_uc011akd.1_Silent_p.A459A|SEZ6L_uc003ace.2_Silent_p.A459A|SEZ6L_uc003acf.1_Silent_p.A232A|SEZ6L_uc010gvc.1_Silent_p.A232A NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 459 CUB 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 TGCACAATGCCACCATCGGCC 0.458 32 70 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 43950942 43950942 + Missense_Mutation SNP C T T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr22:43950942C>T uc003bdy.1 - 27 3670 c.3455G>A c.(3454-3456)GGC>GAC p.G1152D EFCAB6_uc003bdz.1_Missense_Mutation_p.G1000D|EFCAB6_uc010gzi.1_Missense_Mutation_p.G1000D|EFCAB6_uc010gzj.1_Missense_Mutation_p.G378D NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AGGCGGCGGGCCTTTGGGCAT 0.532 71 41 --- --- --- --- PASS KLHL34 257240 broad.mit.edu 37 X 21675117 21675117 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:21675117G>A uc004czz.1 - 1 1332 c.790C>T c.(790-792)CGC>TGC p.R264C NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 264 ovary(1) 1 AGCGGCTGGCGGGAGGGCGTC 0.692 12 7 --- --- --- --- PASS MAGEB4 4115 broad.mit.edu 37 X 30260892 30260892 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:30260892T>A uc004dcb.2 + 1 724 c.640T>A c.(640-642)TGT>AGT p.C214S MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 214 MAGE. ovary(1) 1 AAATGGCAACTGTGCCCGTGA 0.507 99 58 --- --- --- --- PASS TMEM47 83604 broad.mit.edu 37 X 34657478 34657478 + Missense_Mutation SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:34657478G>A uc004ddh.2 - 2 512 c.253C>T c.(253-255)CTC>TTC p.L85F TMEM47_uc010ngs.2_RNA NM_031442 NP_113630 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 85 Helical; (Potential). integral to membrane lung(1) 1 CCGCCCAGGAGTAAAGCCAGA 0.448 13 10 --- --- --- --- PASS IQSEC2 23096 broad.mit.edu 37 X 53277929 53277929 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:53277929C>A uc004dsd.2 - 6 2634 c.2433G>T c.(2431-2433)CAG>CAT p.Q811H IQSEC2_uc004dsc.2_Missense_Mutation_p.Q606H NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 801 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 TGAACTGCTTCTGCCGGTTCC 0.607 5 127 --- --- --- --- PASS GDPD2 54857 broad.mit.edu 37 X 69647202 69647202 + Silent SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:69647202C>A uc004dyh.2 + 10 1076 c.825C>A c.(823-825)CTC>CTA p.L275L GDPD2_uc010nkx.1_Intron|GDPD2_uc010nky.1_Silent_p.L61L|GDPD2_uc011mpk.1_Silent_p.L275L|GDPD2_uc011mpl.1_Silent_p.L196L|GDPD2_uc011mpm.1_Silent_p.L196L NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 275 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) ATGAGCACCTCAGCAGGACCA 0.567 59 28 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76937345 76937345 + Missense_Mutation SNP T A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:76937345T>A uc004ecp.3 - 9 3635 c.3403A>T c.(3403-3405)AGG>TGG p.R1135W ATRX_uc004ecq.3_Missense_Mutation_p.R1097W|ATRX_uc004eco.3_Missense_Mutation_p.R920W|ATRX_uc004ecr.2_Missense_Mutation_p.R1067W|ATRX_uc010nlx.1_Missense_Mutation_p.R1106W|ATRX_uc010nly.1_Missense_Mutation_p.R1080W NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1135 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CTTCTTTCCCTCAATTCTATT 0.323 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 146 72 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79999572 79999572 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:79999572C>A uc004edt.2 - 8 1035 c.772G>T c.(772-774)GCA>TCA p.A258S BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.A87S|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 258 WD 3. ovary(4) 4 TGAAGGACTGCAACGGGTGCA 0.388 98 92 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91134266 91134266 + Silent SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:91134266C>G uc004efk.1 + 2 3872 c.3027C>G c.(3025-3027)ACC>ACG p.T1009T PCDH11X_uc004efl.1_Silent_p.T1009T|PCDH11X_uc004efo.1_Silent_p.T1009T|PCDH11X_uc010nmv.1_Silent_p.T1009T|PCDH11X_uc004efm.1_Silent_p.T1009T|PCDH11X_uc004efn.1_Silent_p.T1009T|PCDH11X_uc004efh.1_Silent_p.T1009T|PCDH11X_uc004efj.1_Silent_p.T1009T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1009 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CCGTACACACCAGACCGGTAG 0.398 128 130 --- --- --- --- PASS TMEM164 84187 broad.mit.edu 37 X 109388078 109388078 + Missense_Mutation SNP T C C TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:109388078T>C uc004eom.2 + 5 879 c.560T>C c.(559-561)GTA>GCA p.V187A TMEM164_uc004eol.2_Missense_Mutation_p.V38A|TMEM164_uc010npq.2_Missense_Mutation_p.V148A NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 187 Helical; (Potential). integral to membrane large_intestine(1)|lung(1)|skin(1) 3 CTCTACGTGGTACCCATCTAC 0.473 6 157 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134989135 134989135 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:134989135C>A uc004ezh.2 + 8 954 c.787C>A c.(787-789)CCC>ACC p.P263T SAGE1_uc010nry.1_Missense_Mutation_p.P232T|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 263 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAAGGGCCAACCCCAACCTGA 0.463 188 133 --- --- --- --- PASS ATP11C 286410 broad.mit.edu 37 X 138882219 138882219 + Missense_Mutation SNP C G G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:138882219C>G uc004faz.2 - 8 818 c.719G>C c.(718-720)AGG>ACG p.R240T ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Missense_Mutation_p.R240T NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 240 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) GCAAACTTACCTGGCAACAGC 0.353 66 40 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795397 142795397 + Missense_Mutation SNP C A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:142795397C>A uc004fbz.2 - 2 1035 c.281G>T c.(280-282)GGA>GTA p.G94V NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 94 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGCTGA 0.502 389 319 --- --- --- --- PASS GAB3 139716 broad.mit.edu 37 X 153940970 153940970 + Silent SNP G A A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chrX:153940970G>A uc004fmj.1 - 4 648 c.600C>T c.(598-600)CCC>CCT p.P200P GAB3_uc004fmk.1_Silent_p.P201P|GAB3_uc010nve.1_Silent_p.P201P|GAB3_uc004fml.1_Intron NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 200 ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CACATCTGGTGGGTAGACTGG 0.502 18 47 --- --- --- --- PASS SLC30A10 55532 broad.mit.edu 37 1 220091756 220091756 + Frame_Shift_Del DEL G - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr1:220091756delG uc001hlw.2 - 3 1010 c.799delC c.(799-801)CTGfs p.L267fs SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Frame_Shift_Del_p.L22fs|SLC30A10_uc001hlx.2_Frame_Shift_Del_p.L42fs NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 267 Extracellular (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TCACTCTTCAGGGGAAGCACA 0.507 326 162 --- --- --- --- TRPC3 7222 broad.mit.edu 37 4 122833102 122833102 + Frame_Shift_Del DEL G - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:122833102delG uc003ieg.2 - 5 1562 c.1488delC c.(1486-1488)CCCfs p.P496fs TRPC3_uc010inr.2_Frame_Shift_Del_p.P368fs|TRPC3_uc003ief.2_Frame_Shift_Del_p.P423fs|TRPC3_uc011cgl.1_Frame_Shift_Del_p.P160fs NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 411 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AGATCTGTTTGGGATAGTCAG 0.418 114 121 --- --- --- --- ZFP42 132625 broad.mit.edu 37 4 188924487 188924487 + Frame_Shift_Del DEL C - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr4:188924487delC uc003izg.1 + 3 771 c.526delC c.(526-528)CCCfs p.P176fs ZFP42_uc003izh.1_Frame_Shift_Del_p.P176fs|ZFP42_uc003izi.1_Frame_Shift_Del_p.P176fs NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 176 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TAGAAAGAAGCCCCCCATAAA 0.468 177 187 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 55925758 55925758 + Frame_Shift_Del DEL C - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr6:55925758delC uc003pcs.2 - 26 2515 c.2283delG c.(2281-2283)GGGfs p.G761fs COL21A1_uc010jzz.2_Frame_Shift_Del_p.G146fs|COL21A1_uc011dxg.1_Frame_Shift_Del_p.G134fs|COL21A1_uc011dxh.1_Frame_Shift_Del_p.G146fs|COL21A1_uc003pcr.2_Frame_Shift_Del_p.G118fs NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 761 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GACCTGCGGGCCCCATCAAGC 0.517 78 50 --- --- --- --- TRPS1 7227 broad.mit.edu 37 8 116616283 116616303 + In_Frame_Del DEL TCAGGGGTGGTGAATGAACAC - - rs13282485 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr8:116616283_116616303delTCAGGGGTGGTGAATGAACAC uc003ynz.2 - 3 2313_2333 c.1854_1874delGTGTTCATTCACCACCCCTGA c.(1852-1875)CAGTGTTCATTCACCACCCCTGAC>CAC p.618_625QCSFTTPD>H TRPS1_uc011lhy.1_In_Frame_Del_p.622_629QCSFTTPD>H|TRPS1_uc003yny.2_In_Frame_Del_p.631_638QCSFTTPD>H|TRPS1_uc010mcy.2_In_Frame_Del_p.618_625QCSFTTPD>H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 618_625 C2H2-type 3; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TACATCTACGTCAGGGGTGGTGAATGAACACTGATGGCACT 0.493 Langer-Giedion_syndrome 68 31 --- --- --- --- RRAS2 22800 broad.mit.edu 37 11 14380349 14380349 + Frame_Shift_Del DEL C - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr11:14380349delC uc001mlf.3 - 1 381 c.68delG c.(67-69)GGCfs p.G23fs RRAS2_uc009ygq.2_5'Flank|RRAS2_uc010rco.1_Frame_Shift_Del_p.G23fs NM_012250 NP_036382 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 23 GTP. endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(1) 1 Epithelial(150;0.203) GCCCACGCCGCCCCCGCCGAC 0.537 5 7 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546395 11546395 + Frame_Shift_Del DEL G - - rs11054277 TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr12:11546395delG uc010shk.1 - 3 652 c.617delC c.(616-618)CCAfs p.P206fs NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GCCTCCTTGTGGGGGTGGTCC 0.602 305 240 --- --- --- --- EDNRB 1910 broad.mit.edu 37 13 78474726 78474726 + Frame_Shift_Del DEL G - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr13:78474726delG uc001vko.2 - 5 1273 c.1015delC c.(1015-1017)CTTfs p.L339fs EDNRB_uc001vkq.1_Frame_Shift_Del_p.L339fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.L339fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.L422fs NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 339 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CTGAGGTGAAGGGGAAGCCAG 0.433 85 42 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53524205 53524205 + Frame_Shift_Del DEL C - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr16:53524205delC uc002ehi.3 + 22 3531 c.3413delC c.(3412-3414)TCCfs p.S1138fs RBL2_uc002ehj.2_Frame_Shift_Del_p.S848fs|RBL2_uc010vgw.1_Frame_Shift_Del_p.S517fs NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1138 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GACCGTGGTTCCCACTGAGGT 0.403 282 158 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36017741 36017741 + Frame_Shift_Del DEL G - - TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 3d4f4555-d71a-4c7d-8667-c42dcc20c076 ce965afc-6c45-495a-aeb9-a14fb76b067e g.chr19:36017741delG uc002oae.1 - 2 484 c.414delC c.(412-414)CACfs p.H138fs SBSN_uc002oad.1_Frame_Shift_Del_p.H481fs NM_198538 NP_940940 Q6UWP8 SBSN_HUMAN suprabasin isoform 2 precursor 138 Ala/Gly/His-rich. extracellular region ovary(1) 1 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGACCCCAGTGTGGAACCCTT 0.597 39 47 --- --- --- ---