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 PRDM16 63976 broad.mit.edu 37 1 3102984 3102984 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:3102984C>T uc001akf.2 + 2 413 c.333C>T c.(331-333)GGC>GGT p.G111G PRDM16_uc001akc.2_Silent_p.G111G|PRDM16_uc001akd.2_Silent_p.G111G|PRDM16_uc001ake.2_Silent_p.G111G|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 111 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGAGGCTGGGCCCCTGCGTGG 0.637 T EVI1 MDS|AML 4 41 --- --- --- --- PASS KIAA0562 9731 broad.mit.edu 37 1 3761503 3761503 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:3761503G>A uc001aky.2 - 6 893 c.534C>T c.(532-534)AGC>AGT p.S178S KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Silent_p.S178S NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 178 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) CAGGGTCCTCGCTGTTGTGCC 0.478 4 98 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17557070 17557070 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:17557070G>A uc001bah.1 + 10 1149 c.1057G>A c.(1057-1059)GAG>AAG p.E353K PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 353 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CTCCCAGGACGAGATGGAGTT 0.577 4 39 --- --- --- --- PASS SLC30A2 7780 broad.mit.edu 37 1 26369919 26369919 + Missense_Mutation SNP G A A rs148861822 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:26369919G>A uc001blh.1 - 3 612 c.395C>T c.(394-396)ACG>ATG p.T132M SLC30A2_uc001blg.1_Missense_Mutation_p.T181M NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 132 Helical; (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCCCGACGTGATCAGCAT 0.607 5 36 --- --- --- --- PASS EYA3 2140 broad.mit.edu 37 1 28337512 28337512 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:28337512C>A uc001bpi.1 - 10 1020 c.855G>T c.(853-855)AAG>AAT p.K285N EYA3_uc010ofs.1_Missense_Mutation_p.K232N|EYA3_uc010oft.1_Missense_Mutation_p.K239N|EYA3_uc001bpj.2_Missense_Mutation_p.K239N|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 285 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TGCCCCGGTTCTTGCTAGTCA 0.413 11 130 --- --- --- --- PASS PTAFR 5724 broad.mit.edu 37 1 28477434 28477434 + Missense_Mutation SNP A T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:28477434A>T uc001bpl.2 - 2 226 c.99T>A c.(97-99)AAT>AAA p.N33K PTAFR_uc001bpm.3_Missense_Mutation_p.N33K|PTAFR_uc009vte.2_Missense_Mutation_p.N33K NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 33 Helical; Name=1; (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GCACGTAGCCATTAGCAATGA 0.493 7 41 --- --- --- --- PASS COL8A2 1296 broad.mit.edu 37 1 36564093 36564093 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:36564093C>T uc001bzv.1 - 2 1196 c.1189G>A c.(1189-1191)GGG>AGG p.G397R COL8A2_uc001bzw.1_Missense_Mutation_p.G332R NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 397 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCACTAGGCCCCTGGTCACCT 0.697 3 16 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38411462 38411462 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:38411462G>A uc001ccg.1 - 3 212 c.118C>T c.(118-120)CGC>TGC p.R40C INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 40 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGGCGGTAGCGCACGAGTCCC 0.667 5 112 --- --- --- --- PASS EDN2 1907 broad.mit.edu 37 1 41949800 41949800 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:41949800G>A uc001cgx.2 - 2 211 c.139C>T c.(139-141)CGC>TGC p.R47C EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA NM_001956 NP_001947 P20800 EDN2_HUMAN endothelin 2 preproprotein 47 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAGCAACGGCGAAGCCGAAGG 0.612 4 46 --- --- --- --- PASS MUTYH 4595 broad.mit.edu 37 1 45798117 45798117 + Missense_Mutation SNP C T T rs140342925 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:45798117C>T uc001cnm.2 - 9 941 c.725G>A c.(724-726)CGT>CAT p.R242H MUTYH_uc009vxn.2_Missense_Mutation_p.R67H|MUTYH_uc001cnf.2_Missense_Mutation_p.R217H|MUTYH_uc009vxo.2_Missense_Mutation_p.R217H|MUTYH_uc001cng.2_Missense_Mutation_p.R228H|MUTYH_uc001cnj.2_Missense_Mutation_p.R125H|MUTYH_uc001cni.2_Missense_Mutation_p.R217H|MUTYH_uc001cnh.2_Missense_Mutation_p.R218H|MUTYH_uc001cno.2_Missense_Mutation_p.R125H|MUTYH_uc001cnk.2_Missense_Mutation_p.R102H|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R231H|MUTYH_uc009vxp.2_Missense_Mutation_p.R245H|MUTYH_uc001cnn.2_Missense_Mutation_p.R232H NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 242 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) GGCTCGGACACGGCACAGCAC 0.617 Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 5 70 --- --- --- --- PASS CDKN2C 1031 broad.mit.edu 37 1 51439730 51439730 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:51439730G>A uc001csf.2 + 3 1511 c.295G>A c.(295-297)GAG>AAG p.E99K CDKN2C_uc001csg.2_Missense_Mutation_p.E99K NM_001262 NP_001253 P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C 99 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(4)|p.?(1) central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1) 17 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) TGTTAACATCGAGGATAATGA 0.532 D glioma|MM Multiple_Endocrine_Neoplasia_type_1 5 70 --- --- --- --- PASS C1orf163 65260 broad.mit.edu 37 1 53153698 53153698 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:53153698G>A uc001cui.1 - 3 430 c.390C>T c.(388-390)GAC>GAT p.D130D NM_023077 NP_075565 Q96BR5 SELR1_HUMAN hypothetical protein LOC65260 130 Sel1-like 3. binding 0 CCTTTCCCAAGTCAGGCTGGC 0.542 5 124 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54607066 54607066 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:54607066G>A uc001cwv.1 - 3 1316 c.468C>T c.(466-468)CTC>CTT p.L156L NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 156 CUB 2. extracellular region ovary(1) 1 CAGGACTGGTGAGGACCCCTG 0.607 5 61 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57481000 57481000 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:57481000G>A uc001cys.1 - 14 1674 c.1000C>T c.(1000-1002)CCG>TCG p.P334S DAB1_uc001cyt.1_Missense_Mutation_p.P332S|DAB1_uc001cyq.1_Missense_Mutation_p.P332S|DAB1_uc001cyr.1_Missense_Mutation_p.P248S|DAB1_uc009vzw.1_Missense_Mutation_p.P316S|DAB1_uc009vzx.1_Missense_Mutation_p.P334S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 367 cell differentiation|nervous system development skin(2)|ovary(1) 3 TGAGCCCCCGGCATCACCTGA 0.667 6 89 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92184997 92184997 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:92184997C>T uc001doh.2 - 10 1904 c.1438G>A c.(1438-1440)GTC>ATC p.V480I TGFBR3_uc009wde.2_Missense_Mutation_p.V257I|TGFBR3_uc010osy.1_Missense_Mutation_p.V438I|TGFBR3_uc001doi.2_Missense_Mutation_p.V479I|TGFBR3_uc001doj.2_Missense_Mutation_p.V479I NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 480 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AACAGGGTGACGTCCATCCCC 0.517 7 90 --- --- --- --- PASS SASS6 163786 broad.mit.edu 37 1 100551139 100551139 + Missense_Mutation SNP T A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:100551139T>A uc001dsu.2 - 16 1961 c.1820A>T c.(1819-1821)GAT>GTT p.D607V SASS6_uc009wdz.2_Missense_Mutation_p.D440V NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 607 centriole replication centriole upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) AGGAATGCTATCTTCCCTTTT 0.313 5 151 --- --- --- --- PASS KCNC4 3749 broad.mit.edu 37 1 110765655 110765655 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:110765655G>A uc001dzh.2 + 2 805 c.748G>A c.(748-750)GCC>ACC p.A250T KCNC4_uc001dzf.2_Missense_Mutation_p.A250T|KCNC4_uc009wfr.2_Missense_Mutation_p.A250T|KCNC4_uc001dzg.2_Missense_Mutation_p.A250T|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 250 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GACCCATGAGGCCTTTAATAT 0.582 8 145 --- --- --- --- PASS VANGL1 81839 broad.mit.edu 37 1 116206498 116206498 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:116206498G>A uc001efv.1 + 4 692 c.421G>A c.(421-423)GAG>AAG p.E141K VANGL1_uc009wgy.1_Missense_Mutation_p.E139K|VANGL1_uc001efw.1_Missense_Mutation_p.E141K NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 141 Extracellular (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTGGAGGGATGAGCTGGAGCC 0.507 12 146 --- --- --- --- PASS BCL9 607 broad.mit.edu 37 1 147096108 147096108 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:147096108G>T uc001epq.2 + 10 4369 c.3629G>T c.(3628-3630)AGC>ATC p.S1210I BCL9_uc010ozr.1_Missense_Mutation_p.S1124I NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1210 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CTGGGGAACAGCATGCCTTCG 0.577 T IGH@|IGL@ B-ALL 9 157 --- --- --- --- PASS FAM63A 55793 broad.mit.edu 37 1 150974945 150974945 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:150974945C>T uc001ewf.2 - 3 1833 c.149G>A c.(148-150)CGG>CAG p.R50Q FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.R98Q|FAM63A_uc001ewg.2_Missense_Mutation_p.R50Q NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 50 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGCTGGCTCCCGTTCTCTAGC 0.592 6 170 --- --- --- --- PASS SLC39A1 27173 broad.mit.edu 37 1 153932959 153932959 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:153932959G>A uc001fdh.2 - 4 759 c.590C>T c.(589-591)GCG>GTG p.A197V CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdj.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdk.2_Missense_Mutation_p.A197V|SLC39A1_uc010pee.1_Missense_Mutation_p.A95V|SLC39A1_uc001fdl.2_Missense_Mutation_p.A197V NM_014437 NP_055252 Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), 197 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CAGCCCTACCGCCAGCCCCTC 0.677 6 61 --- --- --- --- PASS FAM189B 10712 broad.mit.edu 37 1 155217906 155217906 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:155217906G>A uc001fjm.2 - 11 2374 c.1768C>T c.(1768-1770)CGT>TGT p.R590C RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.R392C|FAM189B_uc001fjn.2_Missense_Mutation_p.R494C|FAM189B_uc001fjo.2_Missense_Mutation_p.R572C|FAM189B_uc001fjp.2_RNA NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 590 integral to membrane WW domain binding ovary(1)|breast(1) 2 TGGAGGAAACGAGTGACCAGG 0.607 3 48 --- --- --- --- PASS PKLR 5313 broad.mit.edu 37 1 155263347 155263347 + Missense_Mutation SNP G A A rs74315362 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:155263347G>A uc001fkb.3 - 8 1190 c.1151C>T c.(1150-1152)ACG>ATG p.T384M RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.T353M NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 384 T -> M (in PKRD; Tokyo/Beirut; most common mutation in Japanese population; no conformational change). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CTCTGCCCTCGTTGGCCGGGG 0.587 15 55 --- --- --- --- PASS SYT11 23208 broad.mit.edu 37 1 155838391 155838391 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:155838391G>C uc001fmg.2 + 2 933 c.670G>C c.(670-672)GAC>CAC p.D224H SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 224 Cytoplasmic (Potential).|C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CCCTGTGTTTGACGAGACCTT 0.557 7 96 --- --- --- --- PASS RXFP4 339403 broad.mit.edu 37 1 155912482 155912482 + Silent SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:155912482C>A uc010pgs.1 + 1 1003 c.982C>A c.(982-984)CGG>AGG p.R328R NM_181885 NP_871001 Q8TDU9 RL3R2_HUMAN relaxin 3 receptor 2 328 Cytoplasmic (Potential). integral to membrane|plasma membrane angiotensin type II receptor activity 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CAGGGATCTGCGGTTGAGGCT 0.662 15 115 --- --- --- --- PASS UBQLN4 56893 broad.mit.edu 37 1 156020177 156020177 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:156020177G>A uc001fna.2 - 4 670 c.646C>T c.(646-648)CGT>TGT p.R216C UBQLN4_uc010pgx.1_Missense_Mutation_p.R196C NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 216 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) ATCATGTGACGCATCAGATCA 0.532 7 250 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158912017 158912017 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:158912017G>A uc001ftb.2 + 5 1075 c.830G>A c.(829-831)CGT>CAT p.R277H PYHIN1_uc001ftc.2_Missense_Mutation_p.R268H|PYHIN1_uc001ftd.2_Missense_Mutation_p.R277H|PYHIN1_uc001fte.2_Missense_Mutation_p.R268H NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 277 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) TATTCCAAACGTAATAGTCTC 0.373 13 53 --- --- --- --- PASS COPA 1314 broad.mit.edu 37 1 160260349 160260349 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:160260349T>C uc009wti.2 - 32 3942 c.3548A>G c.(3547-3549)GAA>GGA p.E1183G COPA_uc001fvv.3_Missense_Mutation_p.E1192G NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 1183 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGACACTTTTCTACTGGCTT 0.463 23 137 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171755080 171755080 + Silent SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:171755080G>C uc001ghz.2 + 3 1322 c.975G>C c.(973-975)GCG>GCC p.A325A METTL13_uc001gia.2_Silent_p.A239A|METTL13_uc001gib.2_Silent_p.A169A|METTL13_uc010pml.1_Silent_p.A324A NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 325 methyltransferase activity|protein binding kidney(1) 1 AACAGCTGGCGGCCAGTGCTG 0.557 6 33 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174221626 174221626 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:174221626C>G uc001gjx.2 + 7 1079 c.884C>G c.(883-885)CCT>CGT p.P295R RABGAP1L_uc009wwq.1_Missense_Mutation_p.P307R|RABGAP1L_uc001gjw.2_Missense_Mutation_p.P258R|RABGAP1L_uc001gjy.2_5'UTR NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 295 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 AGCCCTGTGCCTAAGGATAGA 0.289 15 102 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207700114 207700114 + Silent SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:207700114A>G uc001hfy.2 + 6 1043 c.903A>G c.(901-903)CCA>CCG p.P301P CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Silent_p.P301P|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Silent_p.P301P|CR1_uc010psh.1_5'Flank NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 301 Sushi 5.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 AGCCACCTCCAGATGTCCTGC 0.478 6 203 --- --- --- --- PASS SMYD2 56950 broad.mit.edu 37 1 214478553 214478553 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:214478553G>T uc010ptx.1 + 2 230 c.197G>T c.(196-198)GGA>GTA p.G66V SMYD2_uc009xdj.2_Intron|SMYD2_uc010ptw.1_Intron|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 66 MYND-type. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) TCCAAATGTGGAAGATGCAAG 0.458 15 179 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227300098 227300098 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:227300098G>T uc001hqr.2 - 14 2859 c.1916C>A c.(1915-1917)GCT>GAT p.A639D CDC42BPA_uc001hqs.2_Missense_Mutation_p.A558D|CDC42BPA_uc009xes.2_Missense_Mutation_p.A639D|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A639D NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 639 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TGCTTCAGCAGCTAGAGCTTC 0.368 11 230 --- --- --- --- PASS C1orf69 200205 broad.mit.edu 37 1 228363082 228363082 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:228363082C>T uc001hsl.3 + 3 1028 c.939C>T c.(937-939)GGC>GGT p.G313G C1orf69_uc010pvw.1_Silent_p.G120G NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 313 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) TCAGGGCTGGCCAGGGCAACG 0.637 8 110 --- --- --- --- PASS ARV1 64801 broad.mit.edu 37 1 231131696 231131696 + Silent SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:231131696A>G uc009xfl.1 + 4 668 c.639A>G c.(637-639)GTA>GTG p.V213V ARV1_uc001huh.2_Silent_p.V213V NM_022786 NP_073623 Q9H2C2 ARV1_HUMAN ARV1 homolog 213 sphingolipid metabolic process integral to membrane breast(2) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) TCATTAAAGTATTTGTTCTTA 0.348 7 156 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232650420 232650420 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:232650420G>A uc001hvg.2 - 1 824 c.666C>T c.(664-666)CAC>CAT p.H222H NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 222 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCATTGCTTTGTGGTCATAAT 0.463 6 155 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237972262 237972262 + Missense_Mutation SNP A T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:237972262A>T uc001hyl.1 + 100 14480 c.14360A>T c.(14359-14361)AAT>ATT p.N4787I RYR2_uc010pyb.1_Missense_Mutation_p.N220I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4787 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) GTGGCATTCAATTTTTTCCGA 0.358 20 332 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243471407 243471407 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:243471407G>C uc001hzw.2 + 8 1013 c.857G>C c.(856-858)TGT>TCT p.C286S SDCCAG8_uc010pyk.1_Missense_Mutation_p.C141S|SDCCAG8_uc010pyl.1_Missense_Mutation_p.C98S|SDCCAG8_uc001hzx.2_Missense_Mutation_p.C98S NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 286 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TGTTTGAAATGTGCTCAGCAT 0.403 28 174 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614912 247614912 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr1:247614912C>G uc010pyx.1 - 1 373 c.373G>C c.(373-375)GAC>CAC p.D125H NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACGTAGCGGTCCAGGGCCATG 0.612 14 92 --- --- --- --- PASS ATP6V1C2 245973 broad.mit.edu 37 2 10922457 10922457 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:10922457G>A uc002ras.2 + 13 1259 c.1150G>A c.(1150-1152)GTC>ATC p.V384I ATP6V1C2_uc002rat.2_Missense_Mutation_p.V338I NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 384 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TCTAAACTCTGTCTTCCGACA 0.443 8 53 --- --- --- --- PASS MAP4K3 8491 broad.mit.edu 37 2 39552742 39552742 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:39552742G>A uc002rro.2 - 12 926 c.835C>T c.(835-837)CGG>TGG p.R279W MAP4K3_uc002rrp.2_Missense_Mutation_p.R279W|MAP4K3_uc010yns.1_Translation_Start_Site NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 279 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) GCCAAAGACCGTGTCAAATGT 0.313 5 81 --- --- --- --- PASS SIX2 10736 broad.mit.edu 37 2 45233549 45233549 + Silent SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:45233549C>A uc002ruo.2 - 2 929 c.636G>T c.(634-636)TCG>TCT p.S212S SIX2_uc002rup.2_Silent_p.S214S NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 212 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCTCATCCTCCGAGCTGCCTA 0.632 9 175 --- --- --- --- PASS PTCD3 55037 broad.mit.edu 37 2 86346095 86346095 + Missense_Mutation SNP G A A rs140431055 byFrequency TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:86346095G>A uc002sqw.2 + 7 532 c.466G>A c.(466-468)GCC>ACC p.A156T PTCD3_uc010ytc.1_Intron NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 156 PPR 1. mitochondrion protein binding ovary(1) 1 AAGTGAAGCCGCCCTGAAGGA 0.428 6 184 --- --- --- --- PASS INPP4A 3631 broad.mit.edu 37 2 99155410 99155410 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:99155410C>T uc002syy.2 + 9 1029 c.636C>T c.(634-636)TAC>TAT p.Y212Y INPP4A_uc010yvj.1_Silent_p.Y212Y|INPP4A_uc010yvk.1_Silent_p.Y212Y|INPP4A_uc002syx.2_Silent_p.Y212Y|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 212 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 GATCCAAATACGCTTCATTGC 0.468 5 39 --- --- --- --- PASS C2orf64 493753 broad.mit.edu 37 2 99220597 99220597 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:99220597C>T uc002syz.2 - 2 244 c.157G>A c.(157-159)GCA>ACA p.A53T C2orf64_uc002sza.2_Intron NM_001008215 NP_001008216 Q86WW8 COA5_HUMAN hypothetical protein LOC493753 53 A -> P (in MT-C4D). 0 TCAAAAAATGCGTACTTCAAA 0.328 5 97 --- --- --- --- PASS TGFBRAP1 9392 broad.mit.edu 37 2 105886000 105886000 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:105886000C>T uc002tcq.2 - 11 2219 c.2135G>A c.(2134-2136)CGC>CAC p.R712H TGFBRAP1_uc010fjc.2_Missense_Mutation_p.R481H|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.R712H NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 712 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 GAGTTGCTGGCGGTGGGGTGG 0.662 4 29 --- --- --- --- PASS ST6GAL2 84620 broad.mit.edu 37 2 107459969 107459969 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:107459969C>T uc002tdq.2 - 2 584 c.465G>A c.(463-465)GAG>GAA p.E155E ST6GAL2_uc002tdr.2_Silent_p.E155E|ST6GAL2_uc002tds.3_Silent_p.E155E NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 155 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GTGGGCCTGGCTCCCCGGGGG 0.632 42 228 --- --- --- --- PASS TSN 7247 broad.mit.edu 37 2 122522919 122522919 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:122522919G>A uc002tnl.2 + 6 898 c.663G>A c.(661-663)ACG>ACA p.T221T TSN_uc002tnm.2_Silent_p.T174T|TSN_uc010yze.1_3'UTR|TSN_uc010flt.2_RNA NM_004622 NP_004613 Q15631 TSN_HUMAN translin 221 DNA recombination cytoplasm|nucleus sequence-specific DNA binding breast(2)|large_intestine(1) 3 Ovarian(717;0.0563)|Prostate(154;0.116) ATAAGGAGACGGCAGCAGCTT 0.522 4 97 --- --- --- --- PASS HS6ST1 9394 broad.mit.edu 37 2 129026332 129026332 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:129026332G>A uc002tpt.3 - 2 674 c.640C>T c.(640-642)CGC>TGC p.R214C NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 214 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GTGGGCGTGCGCCCATCACAC 0.647 5 130 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141108447 141108447 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:141108447C>G uc002tvj.1 - 77 12783 c.11811G>C c.(11809-11811)TGG>TGC p.W3937C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3937 Extracellular (Potential).|LDL-receptor class B 33. 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) ACTGAGTACTCCAAATAATCA 0.343 TSP Lung(27;0.18) 5 119 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152410492 152410492 + Silent SNP G A A rs113068669 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:152410492G>A uc010fnx.2 - 98 14564 c.14373C>T c.(14371-14373)ATC>ATT p.I4791I NEB_uc002txr.2_Silent_p.I1214I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4791 Nebulin 131. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTCGGGCACGATGTGGATTT 0.458 17 216 --- --- --- --- PASS PRPF40A 55660 broad.mit.edu 37 2 153530207 153530207 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:153530207T>C uc002tyi.2 - 11 1139 c.1126A>G c.(1126-1128)AAA>GAA p.K376E PRPF40A_uc002tyh.3_Missense_Mutation_p.K349E|PRPF40A_uc010zcd.1_Missense_Mutation_p.K296E|PRPF40A_uc002tyj.2_Missense_Mutation_p.K245E NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 376 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TCCTCTTCTTTTTTGGGAGTA 0.284 4 46 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160287584 160287584 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:160287584C>G uc002uao.2 - 10 2336 c.1984G>C c.(1984-1986)GAT>CAT p.D662H BAZ2B_uc002uap.2_Missense_Mutation_p.D660H|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.D235H NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 662 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CCTTCAGTATCACTATCTGAT 0.378 12 130 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160295564 160295564 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:160295564C>T uc002uao.2 - 7 1208 c.856G>A c.(856-858)GAT>AAT p.D286N BAZ2B_uc002uap.2_Missense_Mutation_p.D284N|BAZ2B_uc002uas.1_Missense_Mutation_p.D223N|BAZ2B_uc002uau.1_Missense_Mutation_p.D284N|BAZ2B_uc002uaq.1_Missense_Mutation_p.D214N|BAZ2B_uc002uat.3_Missense_Mutation_p.D223N|BAZ2B_uc010fop.1_Missense_Mutation_p.D284N NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GAATCAGAATCATCATCTTCA 0.294 12 180 --- --- --- --- PASS B3GALT1 8708 broad.mit.edu 37 2 168726029 168726029 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:168726029G>A uc002udz.1 + 2 831 c.480G>A c.(478-480)ATG>ATA p.M160I NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 160 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 TAATGGGGATGAGATGGGTGG 0.383 8 83 --- --- --- --- PASS CDCA7 83879 broad.mit.edu 37 2 174231026 174231026 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:174231026C>G uc002uid.1 + 7 945 c.814C>G c.(814-816)CAA>GAA p.Q272E CDCA7_uc002uic.1_Missense_Mutation_p.Q351E|CDCA7_uc010zej.1_Missense_Mutation_p.Q307E|CDCA7_uc010zek.1_Missense_Mutation_p.Q230E NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 272 Mediates transcriptional activity. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) TACTTGTCATCAATGCCGTCA 0.428 5 169 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180830638 180830638 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:180830638C>T uc010frh.1 - 12 1582 c.1282G>A c.(1282-1284)GAA>AAA p.E428K CWC22_uc002unp.2_Missense_Mutation_p.E428K NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 428 Poly-Glu. catalytic step 2 spliceosome protein binding|RNA binding 0 tcctcttcttcttcctcgtcc 0.234 6 42 --- --- --- --- PASS TMEFF2 23671 broad.mit.edu 37 2 193059101 193059101 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:193059101C>T uc002utc.2 - 1 544 c.150G>A c.(148-150)ACG>ACA p.T50T TMEFF2_uc002utd.1_Silent_p.T50T NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 50 Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AGCCGGTGGGCGTTTGGCAGT 0.592 10 134 --- --- --- --- PASS RFTN2 130132 broad.mit.edu 37 2 198482601 198482601 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:198482601C>G uc002uuo.3 - 6 1375 c.973G>C c.(973-975)GAA>CAA p.E325Q NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 325 plasma membrane 0 GAACCTTCTTCTTCATAGATA 0.388 7 94 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207171375 207171375 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:207171375C>G uc002vbp.2 + 5 2373 c.2123C>G c.(2122-2124)TCT>TGT p.S708C NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 708 nucleic acid binding|zinc ion binding ovary(3) 3 TCTCTGAGTTCTGATTCTCCG 0.408 11 68 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207173250 207173250 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:207173250C>T uc002vbp.2 + 5 4248 c.3998C>T c.(3997-3999)TCA>TTA p.S1333L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1333 nucleic acid binding|zinc ion binding ovary(3) 3 ATTTATGTTTCAAATATCCCT 0.383 4 69 --- --- --- --- PASS IRS1 3667 broad.mit.edu 37 2 227663295 227663295 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:227663295G>A uc002voh.3 - 1 212 c.160C>T c.(160-162)CGG>TGG p.R54W NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 54 PH.|Mediates interaction with PHIP (By similarity). 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) GACTTGTGCCGCCACTTCTTC 0.607 23 127 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227917019 227917019 + Splice_Site SNP A T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:227917019A>T uc010zlt.1 - 32 3622 c.2968_splice c.e32+1 p.G990_splice NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTAAGTGTTTACCTCTTTCTC 0.408 9 45 --- --- --- --- PASS PSMD1 5707 broad.mit.edu 37 2 231948391 231948391 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:231948391C>T uc002vrn.1 + 14 1767 c.1636C>T c.(1636-1638)CGT>TGT p.R546C PSMD1_uc002vrm.1_Missense_Mutation_p.R546C|PSMD1_uc010fxu.1_Missense_Mutation_p.R410C NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 546 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GAAGATTCTGCGTGGTCTTGC 0.458 5 99 --- --- --- --- PASS ILKAP 80895 broad.mit.edu 37 2 239092332 239092332 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:239092332C>A uc002vxv.2 - 8 806 c.676G>T c.(676-678)GAC>TAC p.D226Y ILKAP_uc010zns.1_Missense_Mutation_p.D158Y|ILKAP_uc002vxw.2_Missense_Mutation_p.D106Y|ILKAP_uc010znt.1_Missense_Mutation_p.D106Y NM_030768 NP_110395 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated protein 226 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding ovary(3) 3 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) AGAATGTTGTCTACAGCCAGA 0.493 6 91 --- --- --- --- PASS STK25 10494 broad.mit.edu 37 2 242438156 242438156 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:242438156C>T uc002wbm.2 - 7 1086 c.815G>A c.(814-816)CGC>CAC p.R272H STK25_uc002wbk.2_Missense_Mutation_p.R91H|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.R272H|STK25_uc002wbo.2_Missense_Mutation_p.R195H|STK25_uc010zos.1_Missense_Mutation_p.R178H|STK25_uc010zot.1_Missense_Mutation_p.R198H|STK25_uc002wbp.2_Missense_Mutation_p.R272H|STK25_uc010fzo.2_Missense_Mutation_p.R195H|STK25_uc010zou.1_Missense_Mutation_p.R178H|STK25_uc010zov.1_Missense_Mutation_p.R178H NM_006374 NP_006365 O00506 STK25_HUMAN serine/threonine kinase 25 272 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CTTGGTGTAGCGTGTGATGAA 0.602 12 157 --- --- --- --- PASS D2HGDH 728294 broad.mit.edu 37 2 242681886 242681886 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr2:242681886G>T uc002wce.1 + 4 560 c.387G>T c.(385-387)CAG>CAT p.Q129H D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Translation_Start_Site|D2HGDH_uc002wcg.1_RNA NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 129 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TGAACCCACAGGGGGGCAACA 0.642 8 40 --- --- --- --- PASS SRGAP3 9901 broad.mit.edu 37 3 9101998 9101998 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:9101998G>A uc003brf.1 - 6 1394 c.718C>T c.(718-720)CGG>TGG p.R240W SRGAP3_uc003brg.1_Missense_Mutation_p.R240W|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.R240W|SRGAP3_uc003brj.1_Missense_Mutation_p.R100W NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 240 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TAGTCATTCCGGGCCTTTGTG 0.483 T RAF1 pilocytic astrocytoma 5 126 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9788039 9788039 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:9788039C>A uc003bse.2 + 13 3761 c.3362C>A c.(3361-3363)CCT>CAT p.P1121H BRPF1_uc003bsf.2_Missense_Mutation_p.P1127H|BRPF1_uc003bsg.2_Missense_Mutation_p.P1120H|BRPF1_uc011ati.1_Missense_Mutation_p.P1026H NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 1121 PWWP. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GTTCCCATCCCTGTGCCCCCA 0.527 7 128 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10413690 10413690 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:10413690C>G uc003bvt.2 - 12 1901 c.1462G>C c.(1462-1464)GAG>CAG p.E488Q ATP2B2_uc003bvv.2_Missense_Mutation_p.E443Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.E443Q|ATP2B2_uc010hdo.2_Missense_Mutation_p.E193Q NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 488 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CCCATGGTCTCACAGGCATCC 0.577 12 85 --- --- --- --- PASS MLH1 4292 broad.mit.edu 37 3 37061819 37061819 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:37061819G>A uc003cgl.2 + 11 963 c.903G>A c.(901-903)CAG>CAA p.Q301Q MLH1_uc011aye.1_Silent_p.Q60Q|MLH1_uc011ayb.1_Silent_p.Q60Q|MLH1_uc010hge.2_Silent_p.Q301Q|MLH1_uc003cgn.3_Silent_p.Q60Q|MLH1_uc011ayc.1_Silent_p.Q203Q|MLH1_uc011ayd.1_Silent_p.Q60Q|MLH1_uc003cgo.2_Silent_p.Q60Q|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_5'UTR NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 301 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 TCAGTCCCCAGAATGTGGATG 0.493 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 12 103 --- --- --- --- PASS MLH1 4292 broad.mit.edu 37 3 37061853 37061853 + Nonsense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:37061853G>T uc003cgl.2 + 11 997 c.937G>T c.(937-939)GAA>TAA p.E313* MLH1_uc011aye.1_Nonsense_Mutation_p.E72*|MLH1_uc011ayb.1_Nonsense_Mutation_p.E72*|MLH1_uc010hge.2_Nonsense_Mutation_p.E313*|MLH1_uc003cgn.3_Nonsense_Mutation_p.E72*|MLH1_uc011ayc.1_Nonsense_Mutation_p.E215*|MLH1_uc011ayd.1_Nonsense_Mutation_p.E72*|MLH1_uc003cgo.2_Nonsense_Mutation_p.E72*|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_Missense_Mutation_p.M11I NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 313 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 CACAAAGCATGAAGTTCACTT 0.502 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 13 91 --- --- --- --- PASS EIF1B 10289 broad.mit.edu 37 3 40352450 40352450 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:40352450T>C uc003ckc.2 + 2 358 c.98T>C c.(97-99)ATA>ACA p.I33T uc003ckb.2_5'Flank NM_005875 NP_005866 O60739 EIF1B_HUMAN translation factor sui1 homolog 33 regulation of translational initiation protein binding|translation initiation factor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) TACATTCATATAAGAATCCAG 0.403 13 59 --- --- --- --- PASS CDCP1 64866 broad.mit.edu 37 3 45132780 45132780 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:45132780G>A uc003com.2 - 7 2013 c.1878C>T c.(1876-1878)CTC>CTT p.L626L NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 626 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TTGGCTTGGGGAGCACATCCT 0.602 11 115 --- --- --- --- PASS CDCP1 64866 broad.mit.edu 37 3 45153706 45153706 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:45153706C>T uc003com.2 - 3 659 c.524G>A c.(523-525)GGA>GAA p.G175E CDCP1_uc003con.2_Missense_Mutation_p.G175E NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 175 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GCAGAAGGTTCCGATCCTGAC 0.587 31 121 --- --- --- --- PASS LRIG1 26018 broad.mit.edu 37 3 66431074 66431074 + Silent SNP C T T rs148872922 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:66431074C>T uc003dmx.2 - 18 2996 c.2982G>A c.(2980-2982)TCG>TCA p.S994S SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Silent_p.S614S|LRIG1_uc003dmw.2_Silent_p.S660S|LRIG1_uc010hnz.2_Silent_p.S710S|LRIG1_uc010hoa.2_Silent_p.S971S NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 994 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TGGGGTAGAGCGACCCTTGGC 0.557 7 227 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100949881 100949881 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:100949881G>T uc003duq.1 - 16 3545 c.3342C>A c.(3340-3342)GTC>GTA p.V1114V IMPG2_uc011bhe.1_Silent_p.V977V|IMPG2_uc010hpj.1_Intron NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1114 Helical; (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CAGAAAAGATGACAAGAAGTC 0.478 20 220 --- --- --- --- PASS QTRTD1 79691 broad.mit.edu 37 3 113804605 113804605 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:113804605C>T uc003eay.2 + 10 1332 c.1102C>T c.(1102-1104)CTG>TTG p.L368L QTRTD1_uc003eaz.2_Silent_p.L380L|QTRTD1_uc011biq.1_Silent_p.L245L|QTRTD1_uc011bir.1_Silent_p.L262L NM_024638 NP_078914 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain 368 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|skin(1) 2 CCACCATCTGCTGGTGACCAA 0.473 12 267 --- --- --- --- PASS TMEM39A 55254 broad.mit.edu 37 3 119153616 119153616 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:119153616C>T uc003eck.1 - 8 1589 c.1226G>A c.(1225-1227)CGC>CAC p.R409H TMEM39A_uc003ecl.1_Missense_Mutation_p.R257H NM_018266 NP_060736 Q9NV64 TM39A_HUMAN transmembrane protein 39A 409 integral to membrane ovary(1)|breast(1) 2 GBM - Glioblastoma multiforme(114;0.244) TGCATAAAAGCGGGCATGAGA 0.468 11 193 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129303326 129303326 + Missense_Mutation SNP C T T rs139388919 byFrequency TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:129303326C>T uc003emx.2 - 6 2031 c.1931G>A c.(1930-1932)CGC>CAC p.R644H NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 644 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGCCACAGTGCGGATGTTGTT 0.637 6 120 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130282153 130282153 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:130282153C>T uc010htl.2 + 2 337 c.306C>T c.(304-306)GGC>GGT p.G102G NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 102 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GATTCATTGGCGGGTCCCTGC 0.498 10 43 --- --- --- --- PASS KY 339855 broad.mit.edu 37 3 134322712 134322712 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:134322712C>T uc010hty.2 - 11 1757 c.1695G>A c.(1693-1695)TGG>TGA p.W565* KY_uc011blw.1_3'UTR|KY_uc011blx.1_Nonsense_Mutation_p.W544* NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase Error:Variant_position_missing_in_Q8NBH2_after_alignment cytoskeleton|Z disc peptidase activity ovary(2) 2 GGAACATGGGCCAGTTCACCT 0.493 4 73 --- --- --- --- PASS CHST2 9435 broad.mit.edu 37 3 142841021 142841021 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:142841021G>T uc003evm.2 + 2 2252 c.1363G>T c.(1363-1365)GCC>TCC p.A455S NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 455 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 GGAGCAGTTTGCCCTGAACAT 0.612 7 61 --- --- --- --- PASS IQCJ 654502 broad.mit.edu 37 3 158983100 158983100 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:158983100C>G uc003fcp.1 + 5 493 c.388C>G c.(388-390)CTC>GTC p.L130V SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.L103V NM_001042705 NP_001036170 Q1A5X6 IQCJ_HUMAN IQ motif containing J isoform CaMBPv1 130 0 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) GGTGATTCTTCTCTACCTTGA 0.512 17 205 --- --- --- --- PASS EIF2B5 8893 broad.mit.edu 37 3 183858308 183858308 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:183858308C>T uc003fmp.2 + 7 1310 c.946C>T c.(946-948)CGA>TGA p.R316* EIF2B5_uc003fmq.2_Nonsense_Mutation_p.R37*|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 316 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CGTCATCCGCCGATGGGTCTA 0.567 11 272 --- --- --- --- PASS AHSG 197 broad.mit.edu 37 3 186338694 186338694 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:186338694G>A uc003fqk.3 + 7 1160 c.1079G>A c.(1078-1080)GGG>GAG p.G360E AHSG_uc003fql.3_Missense_Mutation_p.G361E|AHSG_uc003fqm.3_Missense_Mutation_p.G359E|AHSG_uc010hyp.2_Missense_Mutation_p.G323E NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 360 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCATGTCCGGGGAGGATCAGA 0.572 5 82 --- --- --- --- PASS CPN2 1370 broad.mit.edu 37 3 194062396 194062396 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:194062396T>C uc003fts.2 - 2 1126 c.1036A>G c.(1036-1038)AGC>GGC p.S346G NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 346 LRR 11. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 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;4.65e-05) AGGTTGTTGCTGCCCAGGTAG 0.577 4 105 --- --- --- --- PASS FAM43A 131583 broad.mit.edu 37 3 194407900 194407900 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr3:194407900G>A uc003fuj.2 + 1 1279 c.345G>A c.(343-345)GCG>GCA p.A115A NM_153690 NP_710157 Q8N2R8 FA43A_HUMAN hypothetical protein LOC131583 115 central_nervous_system(1) 1 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) CGGTGAGTGCGCAGGGTATCC 0.711 7 54 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6114505 6114505 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:6114505C>G uc003giu.3 - 2 349 c.73G>C c.(73-75)GAG>CAG p.E25Q JAKMIP1_uc010idb.1_Missense_Mutation_p.E25Q|JAKMIP1_uc010idc.1_Missense_Mutation_p.E25Q|JAKMIP1_uc010idd.1_Missense_Mutation_p.E25Q|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E25Q|JAKMIP1_uc003giv.3_Missense_Mutation_p.E25Q|JAKMIP1_uc010ide.2_Missense_Mutation_p.E25Q NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 25 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCCCGCAGCTCCTCGTTGGCC 0.602 5 100 --- --- --- --- PASS PSAPL1 768239 broad.mit.edu 37 4 7435593 7435593 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:7435593G>A uc011bwj.1 - 1 1108 c.1014C>T c.(1012-1014)ATC>ATT p.I338I SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 338 Saposin B-type 3. sphingolipid metabolic process extracellular region|lysosome 0 TGTCCACCAAGATGATGCACT 0.577 20 167 --- --- --- --- PASS PI4K2B 55300 broad.mit.edu 37 4 25260783 25260783 + Missense_Mutation SNP T A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:25260783T>A uc003grk.2 + 5 1014 c.881T>A c.(880-882)GTT>GAT p.V294D PI4K2B_uc011bxs.1_Missense_Mutation_p.V198D NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 294 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) GAAAGATTAGTTATTTTGGAT 0.318 13 121 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47605540 47605540 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:47605540C>T uc003gxm.2 - 20 2779 c.2686G>A c.(2686-2688)GTT>ATT p.V896I CORIN_uc011bzf.1_Missense_Mutation_p.V757I|CORIN_uc011bzg.1_Missense_Mutation_p.V829I NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 896 Extracellular (Potential).|Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CTCAGCTCAACGATGCTGATG 0.537 6 92 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56831849 56831849 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:56831849C>T uc003hbi.2 + 8 1102 c.868C>T c.(868-870)CGT>TGT p.R290C CEP135_uc003hbj.2_5'UTR|CEP135_uc010igz.1_Missense_Mutation_p.R120C NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 290 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) CCTGGAGAAGCGTATACGAGA 0.333 8 45 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57215996 57215996 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:57215996T>C uc003hbn.2 - 11 2074 c.1921A>G c.(1921-1923)AGT>GGT p.S641G AASDH_uc010ihb.2_Missense_Mutation_p.S156G|AASDH_uc011caa.1_Missense_Mutation_p.S488G|AASDH_uc003hbo.2_Missense_Mutation_p.S541G|AASDH_uc011cab.1_Missense_Mutation_p.S156G|AASDH_uc010ihc.2_Missense_Mutation_p.S641G|AASDH_uc003hbp.2_Missense_Mutation_p.S641G NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 641 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding p.S641I(1) ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GTGGCACAACTCTTCCTGAAT 0.403 5 261 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62849149 62849149 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:62849149G>T uc010ihh.2 + 16 3033 c.2860G>T c.(2860-2862)GCC>TCC p.A954S LPHN3_uc003hcq.3_Missense_Mutation_p.A954S|LPHN3_uc003hct.2_Missense_Mutation_p.A347S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 941 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CTTCTTGGCTGCCTTCACCTG 0.443 17 74 --- --- --- --- PASS CXCL6 6372 broad.mit.edu 37 4 74702938 74702938 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:74702938G>A uc003hhf.2 + 3 456 c.261G>A c.(259-261)GGG>GGA p.G87G IL8_uc011cbh.1_Intron NM_002993 NP_002984 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 (granulocyte 87 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGAAGAACGGGAAGCAAGTTT 0.463 4 105 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100530115 100530115 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:100530115C>T uc003hvc.3 + 13 2006 c.1750C>T c.(1750-1752)CGT>TGT p.R584C MTTP_uc011cej.1_Missense_Mutation_p.R611C NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 584 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGACATCCTACGTTTTGAAAT 0.408 7 146 --- --- --- --- PASS SGMS2 166929 broad.mit.edu 37 4 108816946 108816946 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:108816946G>A uc003hyl.3 + 3 792 c.237G>A c.(235-237)ACG>ACA p.T79T uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.T79T|SGMS2_uc003hyo.2_Silent_p.T79T NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 79 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) GGTGGAAAACGGGCATTGCCT 0.483 7 105 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114275200 114275200 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:114275200C>T uc003ibe.3 + 38 5526 c.5426C>T c.(5425-5427)GCG>GTG p.A1809V ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.A1824V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1776 Repeat A.|Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CATCCAGCTGCGTCACCCTCT 0.522 9 138 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126328171 126328171 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:126328171G>T uc003ifj.3 + 3 5444 c.5444G>T c.(5443-5445)CGT>CTT p.R1815L FAT4_uc011cgp.1_Missense_Mutation_p.R113L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1815 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTGCTAGTTCGTGCTGATGAT 0.468 23 211 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126373015 126373015 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:126373015G>T uc003ifj.3 + 9 10844 c.10844G>T c.(10843-10845)CGG>CTG p.R3615L FAT4_uc011cgp.1_Missense_Mutation_p.R1913L|FAT4_uc003ifi.1_Missense_Mutation_p.R1093L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3615 Cadherin 34.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCACAGTCTCGGACGGTGGAG 0.438 6 172 --- --- --- --- PASS MFSD8 256471 broad.mit.edu 37 4 128851936 128851936 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:128851936C>T uc003ifp.2 - 10 1063 c.900G>A c.(898-900)TGG>TGA p.W300* MFSD8_uc011cgu.1_Nonsense_Mutation_p.W255*|MFSD8_uc011cgv.1_Nonsense_Mutation_p.W262*|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 300 Extracellular (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 GTTCTTGAGTCCAGGCATACA 0.308 10 174 --- --- --- --- PASS PALLD 23022 broad.mit.edu 37 4 169606677 169606677 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:169606677C>T uc011cjx.1 + 6 1513 c.1302C>T c.(1300-1302)ACC>ACT p.T434T PALLD_uc003iru.2_Silent_p.T434T|PALLD_uc003irv.2_Silent_p.T52T NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 434 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CTGATGGAACCACTACTGCCT 0.393 Pancreatic_Cancer_Familial_Clustering_of 6 184 --- --- --- --- PASS LRP2BP 55805 broad.mit.edu 37 4 186291928 186291928 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:186291928C>T uc003ixj.1 - 7 1656 c.844G>A c.(844-846)GCC>ACC p.A282T LRP2BP_uc003ixk.1_Missense_Mutation_p.A256T|LRP2BP_uc011ckr.1_Missense_Mutation_p.A282T NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 282 cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GTGACCTGGGCGATCATGGGG 0.498 8 131 --- --- --- --- PASS CYP4V2 285440 broad.mit.edu 37 4 187120144 187120144 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr4:187120144G>A uc003iyw.3 + 6 1012 c.708G>A c.(706-708)ATG>ATA p.M236I NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily v, 236 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) GAATAAAGATGCCCTGGCTTT 0.363 28 129 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13845026 13845026 + Nonsense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:13845026G>A uc003jfd.2 - 32 5233 c.5191C>T c.(5191-5193)CAG>TAG p.Q1731* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1731 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCCGACGCCTGCCCCAGAATC 0.448 Kartagener_syndrome 34 153 --- --- --- --- PASS WDR70 55100 broad.mit.edu 37 5 37392194 37392194 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:37392194G>A uc003jkv.2 + 4 326 c.268G>A c.(268-270)GTC>ATC p.V90I WDR70_uc010iva.1_Missense_Mutation_p.V90I NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 90 Ser-rich. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCAAATGTGGTCAGAGATTG 0.328 17 190 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38352359 38352359 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:38352359G>T uc003jlc.1 + 5 795 c.471G>T c.(469-471)GAG>GAT p.E157D EGFLAM_uc003jlb.1_Missense_Mutation_p.E157D NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 157 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CGGATTCTGAGGTGGCCCTGT 0.507 7 255 --- --- --- --- PASS RICTOR 253260 broad.mit.edu 37 5 38944564 38944564 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:38944564C>G uc003jlp.2 - 36 4921 c.4897G>C c.(4897-4899)GAG>CAG p.E1633Q RICTOR_uc003jlo.2_Missense_Mutation_p.E1657Q|RICTOR_uc010ivf.2_Missense_Mutation_p.E1310Q NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1633 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AGCCCAGTCTCATGACATTTA 0.323 5 238 --- --- --- --- PASS FBXO4 26272 broad.mit.edu 37 5 41927220 41927220 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:41927220T>C uc003jmq.2 + 2 351 c.295T>C c.(295-297)TGG>CGG p.W99R FBXO4_uc003jmp.2_Missense_Mutation_p.W99R|FBXO4_uc003jmr.2_Missense_Mutation_p.W99R NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 99 F-box. positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TCCAATTCTGTGGAGATACTT 0.373 15 263 --- --- --- --- PASS GZMA 3001 broad.mit.edu 37 5 54404118 54404118 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:54404118G>T uc003jpm.2 + 4 560 c.523G>T c.(523-525)GAC>TAC p.D175Y NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 175 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CACCATCATAGACAGAAAAGT 0.453 5 48 --- --- --- --- PASS TMEM161B 153396 broad.mit.edu 37 5 87502852 87502852 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:87502852C>G uc003kjc.2 - 6 717 c.592G>C c.(592-594)GAA>CAA p.E198Q TMEM161B_uc011cty.1_Missense_Mutation_p.E187Q|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.E65Q|TMEM161B_uc011ctx.1_Missense_Mutation_p.E16Q NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 198 integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TTACCTGTTTCAAGTCCAAAT 0.289 3 39 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112175432 112175432 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:112175432C>T uc010jby.2 + 16 4521 c.4141C>T c.(4141-4143)CCA>TCA p.P1381S APC_uc011cvt.1_Missense_Mutation_p.P1363S|APC_uc003kpz.3_Missense_Mutation_p.P1381S|APC_uc003kpy.3_Missense_Mutation_p.P1381S|APC_uc010jbz.2_Missense_Mutation_p.P1098S|APC_uc010jca.2_Missense_Mutation_p.P681S NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1381 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.P1381fs*4(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCAGGAGACCCCACTCATGTT 0.468 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 7 97 --- --- --- --- PASS ETF1 2107 broad.mit.edu 37 5 137878559 137878559 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:137878559T>C uc003ldc.3 - 2 214 c.49A>G c.(49-51)ATC>GTC p.I17V ETF1_uc011cyv.1_5'Flank|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_5'UTR NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 17 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCTTCTTGATCTTCCAGATC 0.677 5 42 --- --- --- --- PASS CTNNA1 1495 broad.mit.edu 37 5 138268318 138268318 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:138268318G>A uc003ldh.2 + 17 2445 c.2350G>A c.(2350-2352)GCC>ACC p.A784T CTNNA1_uc011cyx.1_Missense_Mutation_p.A681T|CTNNA1_uc011cyy.1_Missense_Mutation_p.A661T|CTNNA1_uc003ldi.2_Missense_Mutation_p.A482T|CTNNA1_uc003ldj.2_Missense_Mutation_p.A784T|CTNNA1_uc003ldl.2_Missense_Mutation_p.A414T NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 784 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GCAACGCATCGCCCTCTACTG 0.587 9 45 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475054 140475054 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:140475054C>T uc003lil.2 + 1 818 c.680C>T c.(679-681)ACG>ATG p.T227M PCDHB2_uc003lim.1_Translation_Start_Site NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 227 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGTCCGGCACGGCCCTGGTA 0.592 9 48 --- --- --- --- PASS FCHSD1 89848 broad.mit.edu 37 5 141029088 141029088 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:141029088G>A uc003llk.2 - 5 300 c.249C>T c.(247-249)TTC>TTT p.F83F FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 83 FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGGCACCGAACACTGTCC 0.657 10 60 --- --- --- --- PASS MED7 9443 broad.mit.edu 37 5 156565862 156565862 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:156565862C>A uc010jik.2 - 2 973 c.581G>T c.(580-582)AGC>ATC p.S194I MED7_uc003lwm.3_Missense_Mutation_p.S194I NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 194 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACAATTGTTGCTATCATCAGC 0.378 16 147 --- --- --- --- PASS WWC1 23286 broad.mit.edu 37 5 167858385 167858385 + Missense_Mutation SNP T G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr5:167858385T>G uc003lzu.2 + 15 2309 c.2216T>G c.(2215-2217)CTT>CGT p.L739R WWC1_uc003lzv.2_Missense_Mutation_p.L739R|WWC1_uc011den.1_Missense_Mutation_p.L739R|WWC1_uc003lzw.2_Missense_Mutation_p.L538R|WWC1_uc010jjf.1_Missense_Mutation_p.L6R NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 739 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TATCCAGCCCTTCACCAGAAG 0.488 6 73 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7585249 7585249 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:7585249C>G uc003mxp.1 + 24 8033 c.7754C>G c.(7753-7755)TCC>TGC p.S2585C DSP_uc003mxq.1_Missense_Mutation_p.S1986C NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2585 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTTAGCAGCTCCCGACATGAA 0.483 13 117 --- --- --- --- PASS SLC44A4 80736 broad.mit.edu 37 6 31833154 31833154 + Silent SNP G A A rs145759335 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:31833154G>A uc010jti.2 - 17 1764 c.1698C>T c.(1696-1698)TAC>TAT p.Y566Y NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 566 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) AATTCTTCCCGTAGATGGCGA 0.552 13 180 --- --- --- --- PASS BRPF3 27154 broad.mit.edu 37 6 36178207 36178207 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:36178207G>A uc003olv.3 + 6 2305 c.2081G>A c.(2080-2082)CGG>CAG p.R694Q BRPF3_uc010jwb.2_Missense_Mutation_p.R694Q|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R694Q NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 694 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 CGGCACGCCCGGCGGCAGGCA 0.532 5 115 --- --- --- --- PASS MTCH1 23787 broad.mit.edu 37 6 36945884 36945884 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:36945884C>T uc003ond.1 - 4 561 c.561G>A c.(559-561)ATG>ATA p.M187I MTCH1_uc003onc.1_Missense_Mutation_p.M187I|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.M187I|MTCH1_uc011dtt.1_Missense_Mutation_p.M19I NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 187 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 GGGAAGTCTTCATATCATCCT 0.498 5 107 --- --- --- --- PASS RNF8 9025 broad.mit.edu 37 6 37344705 37344705 + Nonsense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:37344705G>T uc003onq.3 + 6 1325 c.1132G>T c.(1132-1134)GAG>TAG p.E378* RNF8_uc003onr.3_Nonsense_Mutation_p.E378*|RNF8_uc011dtx.1_Nonsense_Mutation_p.E310* NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 378 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 CTTGCAGGAAGAGAAGGAGAA 0.403 4 67 --- --- --- --- PASS TSPO2 222642 broad.mit.edu 37 6 41011317 41011317 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:41011317G>T uc003opj.2 + 3 496 c.195G>T c.(193-195)TGG>TGT p.W65C UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Intron|TSPO2_uc011dub.1_Missense_Mutation_p.W65C NM_001010873 NP_001010873 Q5TGU0 TSPO2_HUMAN benzodiazapine receptor (peripheral)-like 1 65 Helical; (Potential). transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity 0 ACCTGGTGTGGAAGGACCTGG 0.572 10 170 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43190375 43190375 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:43190375G>A uc003ouk.2 + 37 7103 c.7028G>A c.(7027-7029)CGG>CAG p.R2343Q CUL9_uc003oul.2_Missense_Mutation_p.R2315Q|CUL9_uc010jyk.2_Missense_Mutation_p.R1495Q|CUL9_uc003oun.2_Missense_Mutation_p.R138Q NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2343 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GAGCAGGCTCGGAAGGTGGTA 0.617 8 32 --- --- --- --- PASS GSTA5 221357 broad.mit.edu 37 6 52699019 52699019 + Missense_Mutation SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:52699019A>G uc003pba.1 - 5 404 c.334T>C c.(334-336)TGT>CGT p.C112R NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 112 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) TCTGGTTGACATATGAGCAGA 0.378 6 239 --- --- --- --- PASS KIAA1586 57691 broad.mit.edu 37 6 56918751 56918751 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:56918751C>T uc003pdj.2 + 4 1624 c.1454C>T c.(1453-1455)GCG>GTG p.A485V KIAA1586_uc011dxm.1_Missense_Mutation_p.A458V NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 485 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CCAAGATGGGCGGCATGTAGT 0.368 9 107 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 64004921 64004921 + Silent SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:64004921A>G uc003peh.2 - 2 94 c.60T>C c.(58-60)ACT>ACC p.T20T LGSN_uc003pei.2_Silent_p.T20T|LGSN_uc003pej.1_Silent_p.T20T NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 20 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) TGTTGGCTTCAGTCTCATTGC 0.353 9 149 --- --- --- --- PASS SMAP1 60682 broad.mit.edu 37 6 71567858 71567858 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:71567858G>A uc003pfr.2 + 10 1443 c.1195G>A c.(1195-1197)GTG>ATG p.V399M SMAP1_uc003pfs.2_Missense_Mutation_p.V372M|SMAP1_uc010kao.2_Missense_Mutation_p.V372M|SMAP1_uc010kap.2_Missense_Mutation_p.V389M NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 399 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 AGGAGGAATGGTGGGACAAAT 0.547 9 83 --- --- --- --- PASS SYNCRIP 10492 broad.mit.edu 37 6 86329009 86329009 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:86329009C>G uc003pla.2 - 9 1676 c.1135G>C c.(1135-1137)GAT>CAT p.D379H SYNCRIP_uc003pku.2_Missense_Mutation_p.D379H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D344H|SYNCRIP_uc003pky.2_Missense_Mutation_p.D281H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D379H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D227H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D344H NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 379 RRM 3. 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) TCTCGCTCATCAAAATGAATG 0.338 18 155 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101296201 101296201 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:101296201G>A uc003pqk.2 - 4 953 c.624C>T c.(622-624)TGC>TGT p.C208C ASCC3_uc011eai.1_Silent_p.C110C|ASCC3_uc003pql.2_Silent_p.C208C|ASCC3_uc010kcv.2_Silent_p.C208C NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTTCTGGGGTGCAAGCCTCCT 0.393 9 103 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106987389 106987389 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:106987389G>A uc003prh.2 + 7 4093 c.3606G>A c.(3604-3606)ATG>ATA p.M1202I AIM1_uc003pri.2_5'Flank NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1202 Beta/gamma crystallin 'Greek key' 4. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TTGGATCCATGCGGCCTCTGA 0.433 9 124 --- --- --- --- PASS PDSS2 57107 broad.mit.edu 37 6 107780271 107780271 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:107780271C>T uc003prt.2 - 1 509 c.219G>A c.(217-219)CTG>CTA p.L73L PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Silent_p.L73L|PDSS2_uc003pru.2_Silent_p.L73L|PDSS2_uc003prv.2_Silent_p.L73L NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 73 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GCTCGTCGCTCAGCAGGCAGC 0.622 OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 86 --- --- --- --- PASS GJA1 2697 broad.mit.edu 37 6 121768435 121768435 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:121768435C>T uc003pyr.2 + 2 692 c.442C>T c.(442-444)CGA>TGA p.R148* GJA1_uc011ebo.1_Nonsense_Mutation_p.R49*|GJA1_uc011ebp.1_Intron NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 148 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) GGTGAAAATGCGAGGGGGGTT 0.453 7 114 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129591883 129591883 + Missense_Mutation SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:129591883A>G uc003qbn.2 + 17 2542 c.2437A>G c.(2437-2439)ATC>GTC p.I813V LAMA2_uc003qbo.2_Missense_Mutation_p.I813V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 813 Laminin EGF-like 7. 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) TCCACTCAATATCCCATCCAA 0.418 5 109 --- --- --- --- PASS SLC35D3 340146 broad.mit.edu 37 6 137245683 137245683 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:137245683C>G uc003qhe.2 + 2 1265 c.1100C>G c.(1099-1101)CCC>CGC p.P367R NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 367 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) AGGGGCAGCCCCCGAGGAGTC 0.637 4 47 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138196093 138196093 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:138196093G>A uc003qhr.2 + 3 473 c.407G>A c.(406-408)CGC>CAC p.R136H TNFAIP3_uc003qhs.2_Missense_Mutation_p.R136H NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 136 TRAF-binding.|OTU. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.R136fs*3(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) ACAGACACACGCAACTTTAAA 0.488 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 6 109 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 150004302 150004302 + Silent SNP G A A rs35163691 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:150004302G>A uc003qmu.1 - 4 2471 c.1923C>T c.(1921-1923)TTC>TTT p.F641F LATS1_uc010kif.1_Silent_p.F536F|LATS1_uc003qmv.1_Silent_p.F641F|LATS1_uc003qmw.2_Silent_p.F641F|LATS1_uc010kig.1_Silent_p.F536F NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 641 Interaction with YAP1. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GCTCCATAAAGAATTTAAATG 0.338 10 103 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151869452 151869452 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:151869452G>A uc003qol.2 + 5 691 c.602G>A c.(601-603)CGC>CAC p.R201H NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 201 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGAGACCTGCGCAAAGAAAAT 0.353 5 47 --- --- --- --- PASS SYNJ2 8871 broad.mit.edu 37 6 158509790 158509790 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr6:158509790G>A uc003qqx.1 + 24 3517 c.3442G>A c.(3442-3444)GCA>ACA p.A1148T SYNJ2_uc003qqw.1_Missense_Mutation_p.A1148T|SYNJ2_uc003qqy.1_Missense_Mutation_p.A861T|SYNJ2_uc003qqz.1_Missense_Mutation_p.A765T|SYNJ2_uc003qra.1_Missense_Mutation_p.A491T|SYNJ2_uc010kjp.1_Missense_Mutation_p.A31T NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 1148 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCTACCAGGAGCACCTCAGCA 0.478 6 98 --- --- --- --- PASS C7orf27 221927 broad.mit.edu 37 7 2578022 2578022 + Missense_Mutation SNP G A A rs140802292 byFrequency TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:2578022G>A uc003smi.2 - 14 2189 c.2147C>T c.(2146-2148)GCG>GTG p.A716V C7orf27_uc003smh.3_Missense_Mutation_p.A148V NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 716 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) AGACTTCTGCGCCACAGGGCG 0.627 9 107 --- --- --- --- PASS USP42 84132 broad.mit.edu 37 7 6189851 6189851 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:6189851C>T uc011jwo.1 + 13 2147 c.2024C>T c.(2023-2025)GCG>GTG p.A675V USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.1_Missense_Mutation_p.A675V|USP42_uc011jwq.1_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 675 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) AACGGCCTAGCGCCTGATGGT 0.562 5 30 --- --- --- --- PASS BLVRA 644 broad.mit.edu 37 7 43843318 43843318 + Silent SNP C T T rs146563888 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:43843318C>T uc003tir.2 + 7 587 c.504C>T c.(502-504)AGC>AGT p.S168S BLVRA_uc010kxv.2_Silent_p.S168S NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 168 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) CTGCATTCAGCGGCATCTCTC 0.522 9 286 --- --- --- --- PASS MYO1G 64005 broad.mit.edu 37 7 45009408 45009408 + Missense_Mutation SNP C T T rs150434835 byFrequency TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:45009408C>T uc003tmh.2 - 11 1543 c.1399G>A c.(1399-1401)GTG>ATG p.V467M MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Missense_Mutation_p.V229M|MYO1G_uc010kym.2_Missense_Mutation_p.V352M|MYO1G_uc003tmi.1_Missense_Mutation_p.V379M|MYO1G_uc003tmj.2_Missense_Mutation_p.V229M NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 467 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 TCGTCCAGCACGGCCAGGATG 0.607 24 176 --- --- --- --- PASS CLDN3 1365 broad.mit.edu 37 7 73184230 73184230 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:73184230C>A uc003tzg.3 - 1 371 c.150G>T c.(148-150)TGG>TGT p.W50C RFC2_uc011kfa.1_Intron NM_001306 NP_001297 O15551 CLD3_HUMAN claudin 3 50 Extracellular (Potential). response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity 0 Lung NSC(55;0.159) CGCAGTTCATCCACAGGCCCT 0.647 5 59 --- --- --- --- PASS HSPB1 3315 broad.mit.edu 37 7 75933484 75933484 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:75933484C>T uc003uew.2 + 3 767 c.612C>T c.(610-612)GCC>GCT p.A204A HSPB1_uc010ldj.1_RNA|uc003uey.1_5'Flank NM_001540 NP_001531 P04792 HSPB1_HUMAN heat shock protein beta-1 204 Interaction with TGFB1I1 (By similarity). anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus cell surface|cytosol|nucleus|proteasome complex|spindle identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding 0 AGACTGCCGCCAAGTAAAGCC 0.582 3 12 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964767 88964767 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:88964767G>T uc011khi.1 + 4 3009 c.2471G>T c.(2470-2472)AGA>ATA p.R824I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 824 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAATCTACGAGAATCATCTAT 0.363 HNSCC(36;0.09) 6 86 --- --- --- --- PASS KRIT1 889 broad.mit.edu 37 7 91855866 91855866 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:91855866G>C uc003ulq.1 - 9 1291 c.1120C>G c.(1120-1122)CTC>GTC p.L374V KRIT1_uc010lev.1_Missense_Mutation_p.L167V|KRIT1_uc003ulr.1_Missense_Mutation_p.L374V|KRIT1_uc003uls.1_Missense_Mutation_p.L374V|KRIT1_uc003ult.1_Missense_Mutation_p.L326V|KRIT1_uc003ulu.1_Missense_Mutation_p.L374V|KRIT1_uc003ulv.1_Missense_Mutation_p.L374V NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 374 ANK 3. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGGTTTAGGAGAATCTGTACT 0.343 Familial_Cerebral_Cavernous_Angioma 14 108 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 91980322 91980322 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:91980322G>C uc003ulw.2 + 8 1520 c.1144G>C c.(1144-1146)GAT>CAT p.D382H NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 382 RING-type 1; atypical. protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCCTGCATATGATTGCTTCCA 0.358 3 24 --- --- --- --- PASS ARPC1A 10552 broad.mit.edu 37 7 98955978 98955978 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:98955978G>C uc003upx.1 + 7 876 c.729G>C c.(727-729)AAG>AAC p.K243N ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.K229N|ARPC1A_uc011kit.1_RNA NM_006409 NP_006400 Q92747 ARC1A_HUMAN actin related protein 2/3 complex subunit 1A 243 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) CGACTCTGAAGACAGAGTTCC 0.463 9 76 --- --- --- --- PASS ACHE 43 broad.mit.edu 37 7 100490391 100490391 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:100490391C>T uc003uxd.2 - 2 1273 c.1117G>A c.(1117-1119)GGG>AGG p.G373R ACHE_uc003uxe.2_Missense_Mutation_p.G373R|ACHE_uc003uxf.2_Missense_Mutation_p.G373R|ACHE_uc003uxg.2_Missense_Mutation_p.G373R|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Missense_Mutation_p.G373R NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 373 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCTGGGGCCCCGTAAACCAGA 0.582 4 26 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100686564 100686564 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:100686564C>A uc003uxp.1 + 3 11920 c.11867C>A c.(11866-11868)GCA>GAA p.A3956E MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3956 Extracellular (Potential). 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) GTCTTTCCTGCAACAACTGGT 0.443 28 147 --- --- --- --- PASS TRIM56 81844 broad.mit.edu 37 7 100731660 100731660 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:100731660C>A uc003uxq.2 + 3 1298 c.1067C>A c.(1066-1068)CCT>CAT p.P356H TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 356 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding p.P356S(1) kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) GAGCTCCATCCTGGGCTCCTG 0.667 6 28 --- --- --- --- PASS SLC26A5 375611 broad.mit.edu 37 7 103048320 103048320 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:103048320G>A uc003vbz.2 - 8 1102 c.866C>T c.(865-867)CCT>CTT p.P289L SLC26A5_uc003vbt.1_Missense_Mutation_p.P289L|SLC26A5_uc003vbu.1_Missense_Mutation_p.P289L|SLC26A5_uc003vbv.1_Missense_Mutation_p.P289L|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P289L|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 289 Helical; Name=7; (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TAAAGGAATAGGCGCCGGCAA 0.458 4 126 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107743572 107743572 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:107743572G>C uc010ljo.1 - 10 1181 c.1097C>G c.(1096-1098)ACT>AGT p.T366S LAMB4_uc003vey.2_Missense_Mutation_p.T366S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 366 Laminin EGF-like 2. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CTGCCCCTCAGTGTTGTGCTG 0.607 3 45 --- --- --- --- PASS WDR91 29062 broad.mit.edu 37 7 134890753 134890753 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:134890753C>G uc003vsp.2 - 5 714 c.652G>C c.(652-654)GAG>CAG p.E218Q WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 218 breast(2)|ovary(1)|skin(1) 4 GCCTCTTCCTCTTCTGGCTGT 0.512 18 238 --- --- --- --- PASS STRA8 346673 broad.mit.edu 37 7 134925438 134925438 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:134925438G>A uc011kpx.1 + 2 228 c.228G>A c.(226-228)GTG>GTA p.V76V NM_182489 NP_872295 Q7Z7C7 STRA8_HUMAN STRA8 76 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus 0 GGAAGACAGTGTACTCTCAGT 0.607 9 143 --- --- --- --- PASS ZNF282 8427 broad.mit.edu 37 7 148895705 148895705 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:148895705G>A uc003wfm.2 + 2 551 c.446G>A c.(445-447)AGC>AAC p.S149N ZNF282_uc011kun.1_Missense_Mutation_p.S149N|ZNF282_uc003wfn.2_Missense_Mutation_p.S89N|ZNF282_uc003wfo.2_Missense_Mutation_p.S89N NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 149 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CACATGGAGAGCAAGTGGGCC 0.627 6 121 --- --- --- --- PASS AGAP3 116988 broad.mit.edu 37 7 150784082 150784082 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr7:150784082C>A uc003wjg.1 + 1 257 c.254C>A c.(253-255)GCC>GAC p.A85D AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Missense_Mutation_p.A85D|AGAP3_uc010lpy.1_Missense_Mutation_p.A85D NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 49 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 AATATCTACGCCATCTACGAC 0.667 3 43 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1626520 1626520 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:1626520G>A uc003wpl.2 + 9 2286 c.2189G>A c.(2188-2190)AGC>AAC p.S730N DLGAP2_uc003wpm.2_Missense_Mutation_p.S716N NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 809 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TCCGAGCCCAGCACCCCCACC 0.622 16 72 --- --- --- --- PASS PEBP4 157310 broad.mit.edu 37 8 22785204 22785204 + Silent SNP G T T rs11547477 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:22785204G>T uc003xcn.1 - 2 116 c.24C>A c.(22-24)GTC>GTA p.V8V NM_144962 NP_659399 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 8 lysosome ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) GTGCTGCTGTGACCAGCCTCA 0.597 14 97 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38187141 38187141 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:38187141C>G uc003xli.2 - 6 1854 c.1336G>C c.(1336-1338)GAA>CAA p.E446Q WHSC1L1_uc011lbm.1_Missense_Mutation_p.E446Q|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E446Q|WHSC1L1_uc003xlj.2_Missense_Mutation_p.E446Q NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 446 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTCCGAATTTCAGTACTTGAG 0.507 T NUP98 AML 17 138 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42611901 42611901 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:42611901G>T uc003xpj.2 - 5 487 c.441C>A c.(439-441)ACC>ACA p.T147T CHRNA6_uc011lcw.1_Silent_p.T132T NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 147 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GTGGAGTCCAGGTTATCATGC 0.408 8 207 --- --- --- --- PASS FNTA 2339 broad.mit.edu 37 8 42927429 42927429 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:42927429G>T uc003xps.2 + 5 660 c.612G>T c.(610-612)CAG>CAT p.Q204H FNTA_uc003xpt.2_Missense_Mutation_p.Q113H|FNTA_uc003xpu.2_Missense_Mutation_p.Q137H|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 204 PFTA 3. cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ATGCCTGGCAGCATCGACAAT 0.343 5 131 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48761740 48761740 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:48761740C>A uc003xqi.2 - 55 7312 c.7255G>T c.(7255-7257)GAC>TAC p.D2419Y PRKDC_uc003xqj.2_Missense_Mutation_p.D2419Y|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2419 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAACGAAGTCCTTGCTCTTT 0.458 NHEJ 10 140 --- --- --- --- PASS OPRK1 4986 broad.mit.edu 37 8 54142388 54142388 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:54142388G>A uc003xrh.1 - 3 987 c.612C>T c.(610-612)GAC>GAT p.D204D OPRK1_uc003xri.1_Silent_p.D204D|OPRK1_uc010lyc.1_Silent_p.D115D NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 204 Extracellular (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGACATCGACGTCTGGAGGAG 0.423 11 51 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71068967 71068967 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:71068967C>T uc003xyn.1 - 11 1795 c.1633G>A c.(1633-1635)GGG>AGG p.G545R NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 545 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AATGAGACCCCGTGCCCCTCG 0.512 T RUNXBP2 AML 9 165 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618552 77618552 + Silent SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:77618552C>A uc003yav.2 + 2 2616 c.2229C>A c.(2227-2229)GCC>GCA p.A743A ZFHX4_uc003yat.1_Silent_p.A743A|ZFHX4_uc003yau.1_Silent_p.A743A|ZFHX4_uc003yaw.1_Silent_p.A743A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 743 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCACTCTGCCCCAGCCCCCA 0.522 HNSCC(33;0.089) 6 42 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103274250 103274250 + Silent SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:103274250A>G uc003ykr.1 - 55 7768 c.7735T>C c.(7735-7737)TTG>CTG p.L2579L UBR5_uc003yks.1_Silent_p.L2578L|UBR5_uc003ykq.2_Silent_p.L90L NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2579 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGTTGCCGCAAACTCTCATAC 0.378 10 124 --- --- --- --- PASS C8orf85 441376 broad.mit.edu 37 8 117954881 117954881 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:117954881G>C uc003yof.2 + 2 428 c.409G>C c.(409-411)GAA>CAA p.E137Q NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 137 0 AAAGGAGTATGAACTGGAAAT 0.353 13 80 --- --- --- --- PASS MTSS1 9788 broad.mit.edu 37 8 125565386 125565386 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:125565386G>T uc003yrk.2 - 14 2649 c.2115C>A c.(2113-2115)GCC>GCA p.A705A NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.A354A|MTSS1_uc011lin.1_Silent_p.A479A|MTSS1_uc011lio.1_Silent_p.A595A|MTSS1_uc003yri.2_Silent_p.A423A|MTSS1_uc003yrj.2_Silent_p.A680A|MTSS1_uc003yrl.2_Silent_p.A709A NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 705 Pro-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GGGAGACAGTGGCACTTGGGG 0.587 33 456 --- --- --- --- PASS PUF60 22827 broad.mit.edu 37 8 144898903 144898903 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:144898903C>G uc003yzs.2 - 12 1531 c.1467G>C c.(1465-1467)AAG>AAC p.K489N SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.K429N|PUF60_uc003yzt.2_Missense_Mutation_p.K472N|PUF60_uc003yzq.2_Missense_Mutation_p.K446N NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 489 RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGGCCCCGAACTTGCCACACT 0.537 19 184 --- --- --- --- PASS ZNF16 7564 broad.mit.edu 37 8 146156294 146156294 + Missense_Mutation SNP G A A rs145120548 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr8:146156294G>A uc003zet.2 - 4 2066 c.1879C>T c.(1879-1881)CGC>TGC p.R627C ZNF16_uc003zeu.2_Missense_Mutation_p.R627C NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TTGTAGGGGCGCTCGCCCGTG 0.532 13 115 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32542684 32542684 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:32542684C>A uc003zrb.2 - 3 2006 c.1839G>T c.(1837-1839)AAG>AAT p.K613N TOPORS_uc003zrc.2_Missense_Mutation_p.K546N NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 613 Arg-rich.|Interaction with TOP1.|Interaction with SUMO1.|Interaction with p53/TP53. 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) TTCTATGATTCTTCTGATCAT 0.403 8 367 --- --- --- --- PASS PIP5K1B 8395 broad.mit.edu 37 9 71538235 71538235 + Silent SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:71538235T>C uc004agu.2 + 12 1439 c.1134T>C c.(1132-1134)CAT>CAC p.H378H PIP5K1B_uc011lrq.1_Silent_p.H378H|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 378 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) TTTCTGTTCATAGACCAAGCT 0.338 13 171 --- --- --- --- PASS TJP2 9414 broad.mit.edu 37 9 71849460 71849460 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:71849460G>A uc004ahe.2 + 12 1977 c.1777G>A c.(1777-1779)GAT>AAT p.D593N TJP2_uc011lrs.1_Missense_Mutation_p.D570N|TJP2_uc011lrt.1_Missense_Mutation_p.D570N|TJP2_uc004ahd.2_Missense_Mutation_p.D593N|TJP2_uc004ahf.2_Missense_Mutation_p.D593N|TJP2_uc011lru.1_Missense_Mutation_p.D597N|TJP2_uc011lrv.1_Missense_Mutation_p.D615N NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 593 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GAGCCGAGCCGATGGTGAGCA 0.488 5 56 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73206004 73206004 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:73206004T>C uc004aid.2 - 21 3374 c.3130A>G c.(3130-3132)ATC>GTC p.I1044V TRPM3_uc004ahu.2_Missense_Mutation_p.I874V|TRPM3_uc004ahv.2_Missense_Mutation_p.I846V|TRPM3_uc004ahw.2_Missense_Mutation_p.I916V|TRPM3_uc004ahx.2_Missense_Mutation_p.I903V|TRPM3_uc004ahy.2_Missense_Mutation_p.I906V|TRPM3_uc004ahz.2_Missense_Mutation_p.I893V|TRPM3_uc004aia.2_Missense_Mutation_p.I891V|TRPM3_uc004aib.2_Missense_Mutation_p.I881V|TRPM3_uc004aic.2_Missense_Mutation_p.I1044V NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1069 Extracellular (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 ATGTAGAAGATGTTCTTGGCC 0.448 7 201 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 9 78953262 78953262 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:78953262G>A uc004akc.1 + 7 1260 c.1040G>A c.(1039-1041)CGC>CAC p.R347H Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B. TTTCTGCTCCGCTCCAAAGGA 0.547 5 32 --- --- --- --- PASS MURC 347273 broad.mit.edu 37 9 103348485 103348485 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:103348485G>A uc004bba.2 + 2 937 c.847G>A c.(847-849)GCT>ACT p.A283T NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 283 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) CCGAACAGTGGCTGAAGGTGA 0.512 5 172 --- --- --- --- PASS ZNF189 7743 broad.mit.edu 37 9 104170627 104170627 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:104170627G>C uc004bbh.1 + 3 853 c.577G>C c.(577-579)GAA>CAA p.E193Q ZNF189_uc004bbg.1_Missense_Mutation_p.E151Q|ZNF189_uc004bbi.1_Missense_Mutation_p.E179Q|ZNF189_uc011lvk.1_Missense_Mutation_p.E178Q NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 193 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) ATTTGTTATTGAACATCAGAG 0.403 6 114 --- --- --- --- PASS ZNF189 7743 broad.mit.edu 37 9 104171282 104171282 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:104171282G>C uc004bbh.1 + 3 1508 c.1232G>C c.(1231-1233)AGA>ACA p.R411T ZNF189_uc004bbg.1_Missense_Mutation_p.R369T|ZNF189_uc004bbi.1_Missense_Mutation_p.R397T|ZNF189_uc011lvk.1_Missense_Mutation_p.R396T NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 411 C2H2-type 10. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) GCCTTTAGTAGAAGCTCAGGT 0.408 8 94 --- --- --- --- PASS OR13C4 138804 broad.mit.edu 37 9 107288712 107288712 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:107288712G>T uc011lvn.1 - 1 779 c.779C>A c.(778-780)GCA>GAA p.A260E NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTTAGGTTTTGCATACATAAA 0.468 15 147 --- --- --- --- PASS ACTL7B 10880 broad.mit.edu 37 9 111617236 111617236 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:111617236G>A uc004bdi.2 - 1 1040 c.975C>T c.(973-975)CGC>CGT p.R325R NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 325 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TGTCCTGGCAGCGGCCCAGGC 0.677 6 132 --- --- --- --- PASS CDK5RAP2 55755 broad.mit.edu 37 9 123169494 123169494 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:123169494G>C uc004bkf.2 - 32 4940 c.4759C>G c.(4759-4761)CCT>GCT p.P1587A CDK5RAP2_uc010mvi.2_Missense_Mutation_p.P596A|CDK5RAP2_uc004bke.2_Missense_Mutation_p.P872A|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.P852A|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.P852A|CDK5RAP2_uc011lya.1_Missense_Mutation_p.P852A|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1357A|CDK5RAP2_uc004bki.2_3'UTR NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1587 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 TCCCTGAAAGGATCCTGCCCC 0.562 11 113 --- --- --- --- PASS DDX31 64794 broad.mit.edu 37 9 135538025 135538025 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:135538025G>T uc004cbq.1 - 2 600 c.448C>A c.(448-450)CGG>AGG p.R150R DDX31_uc010mzu.1_Silent_p.R150R|DDX31_uc004cbr.1_Silent_p.R150R|DDX31_uc004cbs.1_Silent_p.R150R NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 150 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TCGTTCCTCCGTTTCGCTGGG 0.438 4 158 --- --- --- --- PASS SURF6 6838 broad.mit.edu 37 9 136198994 136198994 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:136198994G>A uc004cdb.3 - 5 875 c.797C>T c.(796-798)GCG>GTG p.A266V NM_006753 NP_006744 O75683 SURF6_HUMAN surfeit 6 266 granular component DNA binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CTTCATCTTCGCCTCCAGCTC 0.667 6 187 --- --- --- --- PASS VAV2 7410 broad.mit.edu 37 9 136635533 136635533 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:136635533G>A uc004ces.2 - 27 2360 c.2314C>T c.(2314-2316)CGT>TGT p.R772C VAV2_uc004cer.2_Missense_Mutation_p.R762C|VAV2_uc004cet.1_Missense_Mutation_p.R311C NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 772 angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GAGGCCGAACGTTCCCGGGAC 0.657 7 97 --- --- --- --- PASS INPP5E 56623 broad.mit.edu 37 9 139329253 139329253 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr9:139329253C>T uc004cho.2 - 2 1260 c.875G>A c.(874-876)CGC>CAC p.R292H INPP5E_uc010nbm.2_Missense_Mutation_p.R292H NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 292 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) TGGGAAGTAGCGGGCCAGCTC 0.577 3 32 --- --- --- --- PASS PRKCQ 5588 broad.mit.edu 37 10 6504316 6504316 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr10:6504316G>A uc001ijj.1 - 14 1532 c.1457C>T c.(1456-1458)GCT>GTT p.A486V PRKCQ_uc009xim.1_Missense_Mutation_p.A486V|PRKCQ_uc001iji.1_Missense_Mutation_p.A519V|PRKCQ_uc009xin.1_Missense_Mutation_p.A450V|PRKCQ_uc010qax.1_Missense_Mutation_p.A361V NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 486 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 AATGATTTCAGCAGCATAAAA 0.413 9 87 --- --- --- --- PASS SUV39H2 79723 broad.mit.edu 37 10 14939354 14939354 + Nonsense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr10:14939354C>A uc001inh.2 + 2 563 c.507C>A c.(505-507)TGC>TGA p.C169* SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Nonsense_Mutation_p.C169*|SUV39H2_uc001inj.2_Nonsense_Mutation_p.C169* NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 229 Pre-SET. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 TCTATGAATGCAACTCAAGGT 0.413 13 125 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129910038 129910038 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr10:129910038C>T uc001lke.2 - 11 2326 c.2131G>A c.(2131-2133)GCA>ACA p.A711T MKI67_uc001lkf.2_Missense_Mutation_p.A351T|MKI67_uc009yav.1_Missense_Mutation_p.A286T|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 711 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGAGAGTTTGCGTGGCCTGTA 0.433 10 121 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135106715 135106715 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr10:135106715C>T uc001lmg.1 - 7 1209 c.852G>A c.(850-852)GAG>GAA p.E284E TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.E312E|TUBGCP2_uc009ybk.1_Silent_p.E284E|TUBGCP2_uc010qvd.1_Silent_p.E154E|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 284 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CCTGCCCGTACTCGAAGGAAG 0.557 8 96 --- --- --- --- PASS OR52I2 143502 broad.mit.edu 37 11 4608686 4608686 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:4608686C>T uc010qyh.1 + 1 644 c.644C>T c.(643-645)GCC>GTC p.A215V NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 215 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCTTTGGCCAGGTTAGCA 0.512 23 291 --- --- --- --- PASS OR51V1 283111 broad.mit.edu 37 11 5221786 5221786 + Silent SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:5221786A>G uc010qyz.1 - 1 145 c.145T>C c.(145-147)TTG>CTG p.L49L NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 49 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATTGCCCAAAAGCACCATG 0.502 6 133 --- --- --- --- PASS EIF3F 8665 broad.mit.edu 37 11 8016879 8016879 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:8016879G>C uc001mfw.2 + 7 994 c.961G>C c.(961-963)GAT>CAT p.D321H EIF3F_uc010rbj.1_Missense_Mutation_p.D172H NM_003754 NP_003745 O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, 321 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(1) 1 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATAGTTCCCGATGACTTTGA 0.493 23 263 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17153558 17153558 + Silent SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:17153558T>C uc001mmq.3 - 11 2202 c.2136A>G c.(2134-2136)TCA>TCG p.S712S PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.S332S|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 712 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) TGTGAGACAGTGAACATATCA 0.279 7 140 --- --- --- --- PASS RCN1 5954 broad.mit.edu 37 11 32118747 32118747 + Silent SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:32118747G>C uc010reb.1 + 2 578 c.312G>C c.(310-312)CTG>CTC p.L104L RCN1_uc010rea.1_Silent_p.L53L|RCN1_uc001mtk.2_5'UTR NM_002901 NP_002892 Q15293 RCN1_HUMAN reticulocalbin 1 precursor 104 EF-hand 1. endoplasmic reticulum lumen calcium ion binding large_intestine(1) 1 Lung SC(675;0.225) CTGAGGAGCTGAAAACCTGGA 0.413 4 33 --- --- --- --- PASS QSER1 79832 broad.mit.edu 37 11 32956815 32956815 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:32956815C>T uc001mty.2 + 4 3891 c.3624C>T c.(3622-3624)GGC>GGT p.G1208G QSER1_uc001mtz.1_Silent_p.G969G|QSER1_uc001mua.2_Silent_p.G713G NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1208 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) CTGAAACTGGCGGTAACAGTC 0.428 6 168 --- --- --- --- PASS GYLTL1B 120071 broad.mit.edu 37 11 45950326 45950326 + Missense_Mutation SNP G A A rs140560270 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:45950326G>A uc001nbv.1 + 14 2207 c.2096G>A c.(2095-2097)CGC>CAC p.R699H GYLTL1B_uc001nbw.1_Missense_Mutation_p.R668H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R699H|GYLTL1B_uc001nby.1_Missense_Mutation_p.R382H|GYLTL1B_uc001nbz.1_Missense_Mutation_p.A48T NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 699 Lumenal (Potential). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.226) GACTTGTCCCGCCACCATGGG 0.672 5 127 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46920945 46920945 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:46920945C>A uc001ndn.3 - 5 686 c.540G>T c.(538-540)GAG>GAT p.E180D LRP4_uc009ylh.1_Missense_Mutation_p.E131D NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 180 Extracellular (Potential).|LDL-receptor class A 4. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CACGACAGTTCTCCTCATCGG 0.572 11 209 --- --- --- --- PASS FAM111B 374393 broad.mit.edu 37 11 58893237 58893237 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:58893237C>T uc001nnl.2 + 4 1910 c.1667C>T c.(1666-1668)GCG>GTG p.A556V FAM111B_uc001nnm.2_Missense_Mutation_p.A526V|FAM111B_uc010rko.1_Missense_Mutation_p.A526V NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 556 catalytic activity ovary(2) 2 AATGGAAATGCGTTTCCTCCA 0.383 13 148 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61067618 61067618 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:61067618C>T uc001nrc.3 - 27 3639 c.3413G>A c.(3412-3414)CGG>CAG p.R1138Q NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 1138 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CTAATGGATCCGAGTTAGCTC 0.597 NER 11 51 --- --- --- --- PASS SDHAF2 54949 broad.mit.edu 37 11 61205522 61205522 + Missense_Mutation SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:61205522A>G uc001nrt.2 + 3 329 c.307A>G c.(307-309)AAC>GAC p.N103D NM_017841 NP_060311 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 103 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding ovary(2) 2 AAAGCAGCTGAACCTCTATGA 0.393 Familial_Paragangliomas 8 145 --- --- --- --- PASS INCENP 3619 broad.mit.edu 37 11 61897526 61897526 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:61897526G>C uc001nsw.1 + 4 729 c.527G>C c.(526-528)CGC>CCC p.R176P INCENP_uc009ynv.2_Missense_Mutation_p.R176P|INCENP_uc009ynw.1_Missense_Mutation_p.R176P|INCENP_uc001nsx.1_Missense_Mutation_p.R176P NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 176 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 ATCAGTGAGCGCCAGAATGCT 0.617 13 74 --- --- --- --- PASS EFEMP2 30008 broad.mit.edu 37 11 65635415 65635415 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:65635415T>C uc001ofy.3 - 10 1281 c.1087A>G c.(1087-1089)ATC>GTC p.I363V EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.I363V NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 363 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GTCGCCTGGATCTGGAACACG 0.582 22 161 --- --- --- --- PASS KDM4D 55693 broad.mit.edu 37 11 94731334 94731334 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:94731334G>A uc001pfe.2 + 3 1630 c.798G>A c.(796-798)CAG>CAA p.Q266Q NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 266 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GCATAACTCAGGAGGCTGGAG 0.547 5 82 --- --- --- --- PASS CUL5 8065 broad.mit.edu 37 11 107923528 107923528 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:107923528G>A uc001pjv.2 + 5 1220 c.553G>A c.(553-555)GTT>ATT p.V185I CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 185 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AGAATCCTATGGTATGTTCTG 0.343 6 51 --- --- --- --- PASS KCNJ5 3762 broad.mit.edu 37 11 128781427 128781427 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr11:128781427C>T uc001qet.2 + 2 573 c.259C>T c.(259-261)CGC>TGC p.R87C KCNJ5_uc009zck.2_Missense_Mutation_p.R87C|KCNJ5_uc001qew.2_Missense_Mutation_p.R87C NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 87 Helical; Name=M1; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCTCAAGTGGCGCTTCAACTT 0.552 10 149 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1005492 1005492 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:1005492C>T uc001qio.3 + 24 6346 c.5839C>T c.(5839-5841)CAG>TAG p.Q1947* WNK1_uc001qip.3_Nonsense_Mutation_p.Q1699*|WNK1_uc001qir.3_Nonsense_Mutation_p.Q1120* NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1947 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TGGACGTTTTCAGGTGACAAC 0.488 5 114 --- --- --- --- PASS ADIPOR2 79602 broad.mit.edu 37 12 1889659 1889659 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:1889659G>T uc001qjm.2 + 5 703 c.506G>T c.(505-507)CGC>CTC p.R169L ADIPOR2_uc001qjn.2_Missense_Mutation_p.R169L NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 169 Extracellular (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) TATATGTTTCGCCCAAATATC 0.403 32 275 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9265040 9265040 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:9265040C>A uc001qvk.1 - 3 476 c.363G>T c.(361-363)ATG>ATT p.M121I A2M_uc009zgk.1_Intron NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 121 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CGTTCTTAACCATCACTGTGG 0.448 7 60 --- --- --- --- PASS GSG1 83445 broad.mit.edu 37 12 13243687 13243687 + Silent SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:13243687T>C uc001rbn.2 - 2 287 c.114A>G c.(112-114)TCA>TCG p.S38S GSG1_uc001rbj.2_Silent_p.S25S|GSG1_uc001rbk.2_Silent_p.S25S|GSG1_uc001rbl.2_Silent_p.S25S|GSG1_uc001rbm.2_Silent_p.S25S|GSG1_uc001rbo.2_Silent_p.S38S|GSG1_uc001rbp.2_Silent_p.S38S|GSG1_uc001rbq.1_Silent_p.S38S NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 25 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AGAAGCTGAGTGATAGCATGC 0.552 6 113 --- --- --- --- PASS ADCY6 112 broad.mit.edu 37 12 49170131 49170131 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:49170131C>T uc001rsh.3 - 7 2198 c.1538G>A c.(1537-1539)CGC>CAC p.R513H ADCY6_uc001rsj.3_Missense_Mutation_p.R513H|ADCY6_uc001rsi.3_Missense_Mutation_p.R513H|ADCY6_uc010slw.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 513 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 GATGTGGATGCGGCTGTATGT 0.667 4 81 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49421039 49421039 + Nonsense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:49421039G>A uc001rta.3 - 48 14710 c.14710C>T c.(14710-14712)CGA>TGA p.R4904* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4904 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GAGAGCTGTCGCACATCCAGA 0.612 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 152 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56078904 56078904 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:56078904G>T uc001shh.2 - 25 3584 c.3364C>A c.(3364-3366)CTG>ATG p.L1122M ITGA7_uc001shg.2_Missense_Mutation_p.L1118M|ITGA7_uc010sps.1_Missense_Mutation_p.L1025M|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.L365M|ITGA7_uc009znx.2_Missense_Mutation_p.L999M NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1162 3 X 4 AA repeats of D-X-H-P.|Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 TCAGCAGCCAGGATGGGGTGT 0.682 6 40 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57593149 57593149 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:57593149C>T uc001snd.2 + 61 10297 c.9831C>T c.(9829-9831)GAC>GAT p.D3277D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3277 LDL-receptor class B 30.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCCCATGGACCTGCATGTCT 0.627 6 154 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94965417 94965417 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:94965417G>C uc001tdj.2 - 4 1346 c.1228C>G c.(1228-1230)CTC>GTC p.L410V TMCC3_uc001tdi.2_Missense_Mutation_p.L379V NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 410 integral to membrane ovary(1)|skin(1) 2 CTCCCCAGGAGAACTTTAGCA 0.527 8 114 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94965482 94965482 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:94965482G>A uc001tdj.2 - 4 1281 c.1163C>T c.(1162-1164)TCT>TTT p.S388F TMCC3_uc001tdi.2_Missense_Mutation_p.S357F NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 388 Potential. integral to membrane ovary(1)|skin(1) 2 CTCCAGCTTAGAAATGCGAGT 0.552 9 75 --- --- --- --- PASS TDG 6996 broad.mit.edu 37 12 104378655 104378655 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:104378655C>T uc001tkg.2 + 8 1144 c.921C>T c.(919-921)GAC>GAT p.D307D TDG_uc009zuk.2_Silent_p.D303D|TDG_uc010swi.1_Silent_p.D164D|TDG_uc010swj.1_Silent_p.D95D NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 307 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) GAAATATGGACGTTCAAGAGG 0.363 BER_DNA_glycosylases 6 119 --- --- --- --- PASS KIAA1033 23325 broad.mit.edu 37 12 105536924 105536924 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:105536924G>A uc001tld.2 + 20 2000 c.1913G>A c.(1912-1914)CGC>CAC p.R638H KIAA1033_uc010swr.1_Missense_Mutation_p.R639H|KIAA1033_uc010sws.1_Missense_Mutation_p.R450H NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 638 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 AGTGCTTTGCGCGACTGTGTA 0.333 3 45 --- --- --- --- PASS ANAPC5 51433 broad.mit.edu 37 12 121746350 121746350 + Missense_Mutation SNP G A A rs115934510 by1000genomes TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:121746350G>A uc001uag.2 - 17 2323 c.2201C>T c.(2200-2202)GCG>GTG p.A734V ANAPC5_uc010szu.1_Missense_Mutation_p.A400V|ANAPC5_uc001uae.2_Missense_Mutation_p.A298V|ANAPC5_uc010szv.1_Missense_Mutation_p.A336V|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.A622V NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 734 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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 protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GAAGAGCATCGCACACCGGTT 0.562 18 159 --- --- --- --- PASS KDM2B 84678 broad.mit.edu 37 12 122016728 122016728 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:122016728C>T uc001uat.2 - 2 354 c.250G>A c.(250-252)GTG>ATG p.V84M KDM2B_uc001uas.2_Missense_Mutation_p.V53M|KDM2B_uc001uau.2_Translation_Start_Site|KDM2B_uc001uav.3_Missense_Mutation_p.V84M NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 84 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 ATGGCGTGCACGAAGTCCCCC 0.697 6 62 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133331494 133331494 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr12:133331494C>A uc001ukx.2 - 2 474 c.407G>T c.(406-408)AGG>ATG p.R136M ANKLE2_uc001uky.3_Missense_Mutation_p.R74M NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 136 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CTTCAAAATCCTTTGTGGGTC 0.498 7 89 --- --- --- --- PASS SIAH3 283514 broad.mit.edu 37 13 46425674 46425674 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr13:46425674C>A uc001vap.2 - 1 173 c.91G>T c.(91-93)GCC>TCC p.A31S NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 31 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 AGTTGCCCGGCAGCGGAGAAA 0.483 4 120 --- --- --- --- PASS KPNA3 3839 broad.mit.edu 37 13 50280449 50280449 + Silent SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr13:50280449T>C uc001vdj.2 - 13 1507 c.1092A>G c.(1090-1092)GTA>GTG p.V364V NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 364 ARM 8.|NLS binding site (minor) (By similarity). interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CAGCATCTATTACAGCTTGAA 0.358 4 75 --- --- --- --- PASS SLC15A1 6564 broad.mit.edu 37 13 99364785 99364785 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr13:99364785C>A uc001vno.2 - 10 854 c.777G>T c.(775-777)GAG>GAT p.E259D NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 259 Cytoplasmic (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCAGCCAGTGCTCCCTCTTGG 0.418 15 109 --- --- --- --- PASS C14orf183 196913 broad.mit.edu 37 14 50550460 50550460 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr14:50550460C>G uc010tqk.1 - 5 884 c.884G>C c.(883-885)TGG>TCG p.W295S NM_001014830 NP_001014830 Q8WXQ3 CN183_HUMAN hypothetical protein LOC196913 295 0 GACTGGCATCCATTCGCTGCT 0.552 13 112 --- --- --- --- PASS DDHD1 80821 broad.mit.edu 37 14 53619565 53619565 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr14:53619565G>A uc001xai.2 - 1 482 c.252C>T c.(250-252)CTC>CTT p.L84L DDHD1_uc001xaj.2_Silent_p.L84L|DDHD1_uc001xah.2_Silent_p.L84L NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 84 lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) TCTCGTCACTGAGGCAGGGGT 0.701 5 31 --- --- --- --- PASS MTHFD1 4522 broad.mit.edu 37 14 64898281 64898281 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr14:64898281C>T uc001xhb.2 + 14 1730 c.1343C>T c.(1342-1344)GCC>GTC p.A448V MTHFD1_uc010aqe.2_Missense_Mutation_p.A484V|MTHFD1_uc010aqf.2_Missense_Mutation_p.A504V NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 448 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GACATCCATGCCATCACTGCA 0.463 4 74 --- --- --- --- PASS PAPOLA 10914 broad.mit.edu 37 14 97018866 97018866 + Missense_Mutation SNP A C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr14:97018866A>C uc001yfq.2 + 17 1781 c.1571A>C c.(1570-1572)GAC>GCC p.D524A PAPOLA_uc001yfr.2_Missense_Mutation_p.D524A|PAPOLA_uc010twv.1_Missense_Mutation_p.D524A|PAPOLA_uc010avp.2_Missense_Mutation_p.D274A NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 524 Ser/Thr-rich. Interaction with RNA (By similarity). mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AGCAGCCTCGACTTGTCTATG 0.413 6 101 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28493709 28493709 + Nonsense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:28493709G>C uc001zbj.2 - 21 3330 c.3224C>G c.(3223-3225)TCA>TGA p.S1075* NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1075 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGAAATATCTGAGGTCTGACC 0.393 3 51 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42710039 42710039 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:42710039G>A uc001zpw.2 - 18 5894 c.5559C>T c.(5557-5559)TGC>TGT p.C1853C ZFP106_uc001zpu.2_Silent_p.C951C|ZFP106_uc001zpv.2_Silent_p.C1038C|ZFP106_uc001zpx.2_Silent_p.C1081C NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1853 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) AAAAAGCATCGCAGTTCTTCC 0.463 8 90 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44920876 44920876 + Silent SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:44920876G>C uc001ztx.2 - 10 2089 c.2058C>G c.(2056-2058)CTC>CTG p.L686L SPG11_uc010ueh.1_Silent_p.L686L|SPG11_uc010uei.1_Silent_p.L686L|SPG11_uc001zua.1_Silent_p.L686L NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 686 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTCAAAGCTGAGTTTCTTCC 0.338 11 157 --- --- --- --- PASS C15orf33 196951 broad.mit.edu 37 15 49882125 49882125 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:49882125G>A uc001zxl.2 - 4 479 c.185C>T c.(184-186)TCA>TTA p.S62L C15orf33_uc001zxm.2_Missense_Mutation_p.S62L NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 62 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TGAAACAAATGAACTATCTTC 0.308 10 102 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65682603 65682603 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:65682603G>A uc002aou.1 - 13 2508 c.2298C>T c.(2296-2298)ATC>ATT p.I766I IGDCC4_uc002aot.1_Silent_p.I354I NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 766 Fibronectin type-III 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 ACCGAAGCCAGATGGATGTGG 0.552 7 89 --- --- --- --- PASS SMAD3 4088 broad.mit.edu 37 15 67358513 67358513 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:67358513C>T uc002aqj.2 + 1 319 c.21C>T c.(19-21)TTC>TTT p.F7F NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 7 activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) TCCTGCCTTTCACTCCCCCGA 0.537 3 13 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79339219 79339219 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:79339219C>T uc002beq.2 - 5 1122 c.747G>A c.(745-747)CTG>CTA p.L249L RASGRF1_uc002bep.2_Silent_p.L249L|RASGRF1_uc010blm.1_Silent_p.L171L|RASGRF1_uc002ber.3_Silent_p.L249L NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 249 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CCTCAGCCTCCAGCATGCTGA 0.602 11 104 --- --- --- --- PASS ZNF592 9640 broad.mit.edu 37 15 85327190 85327190 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:85327190G>T uc002bld.2 + 4 1620 c.1284G>T c.(1282-1284)GTG>GTT p.V428V ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 428 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGTGCCTGTGGAAGAGCACT 0.597 6 84 --- --- --- --- PASS TTC23 64927 broad.mit.edu 37 15 99758814 99758814 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr15:99758814C>T uc002bur.2 - 7 1091 c.560G>A c.(559-561)CGG>CAG p.R187Q TTC23_uc002bus.2_Missense_Mutation_p.R187Q|TTC23_uc002but.2_Missense_Mutation_p.R187Q|TTC23_uc002buu.2_Missense_Mutation_p.R187Q|TTC23_uc002buv.2_Missense_Mutation_p.R187Q|TTC23_uc002bux.2_Missense_Mutation_p.R187Q|TTC23_uc002buw.2_Missense_Mutation_p.R187Q|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.R187Q|TTC23_uc010bor.2_Missense_Mutation_p.R187Q|TTC23_uc002buz.2_Missense_Mutation_p.R187Q NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 187 TPR 3. binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) TAATCTGATCCGTGCTTCAAT 0.408 4 175 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15814831 15814831 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:15814831C>A uc002ddy.2 - 33 4763 c.4656G>T c.(4654-4656)GAG>GAT p.E1552D MYH11_uc002ddv.2_Missense_Mutation_p.E1559D|MYH11_uc002ddw.2_Missense_Mutation_p.E1552D|MYH11_uc002ddx.2_Missense_Mutation_p.E1559D|MYH11_uc010bvg.2_Missense_Mutation_p.E1384D|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E258D|NDE1_uc002ddz.1_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1552 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GCAGCTCGTCCTCCAGCTCTT 0.642 T CBFB AML 10 109 --- --- --- --- PASS GDE1 51573 broad.mit.edu 37 16 19516332 19516332 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:19516332C>T uc002dgh.2 - 5 883 c.719G>A c.(718-720)CGC>CAC p.R240H GDE1_uc002dgi.2_Missense_Mutation_p.R130H NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 240 Lumenal (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 AGTATCATAGCGTGGTTTCCC 0.408 6 223 --- --- --- --- PASS ARHGAP17 55114 broad.mit.edu 37 16 24980023 24980023 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:24980023C>T uc002dnb.2 - 5 436 c.343G>A c.(343-345)GTT>ATT p.V115I ARHGAP17_uc002dnc.2_Missense_Mutation_p.V115I|ARHGAP17_uc010vcf.1_5'UTR|ARHGAP17_uc002dnf.2_Missense_Mutation_p.V23I|ARHGAP17_uc002dng.1_Missense_Mutation_p.V115I NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 115 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) TCCTTCTCAACAAAGACTTCG 0.552 12 189 --- --- --- --- PASS KCTD13 253980 broad.mit.edu 37 16 29922394 29922394 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:29922394C>T uc002duv.2 - 5 849 c.658G>A c.(658-660)GAG>AAG p.E220K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN potassium channel tetramerisation domain 220 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 CAGCAGATCTCGTCCCCCAGG 0.562 10 79 --- --- --- --- PASS FTO 79068 broad.mit.edu 37 16 53844090 53844090 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:53844090C>T uc002ehr.2 + 2 306 c.84C>T c.(82-84)CTC>CTT p.L28L FTO_uc010vha.1_5'UTR NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 28 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ACACTTGGCTCCCTTATCTGA 0.264 8 81 --- --- --- --- PASS PSKH1 5681 broad.mit.edu 37 16 67943531 67943531 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:67943531C>T uc002euv.2 + 2 1049 c.879C>T c.(877-879)GGC>GGT p.G293G PSKH1_uc010cet.2_Silent_p.G293G NM_006742 NP_006733 P11801 KPSH1_HUMAN protein serine kinase H1 293 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) TACTCAGTGGCACCATGCCGT 0.587 5 74 --- --- --- --- PASS FOXC2 2303 broad.mit.edu 37 16 86601394 86601394 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:86601394C>A uc002fjq.2 + 1 538 c.453C>A c.(451-453)GAC>GAA p.D151E NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 151 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 TGGACCCGGACTCCTACAACA 0.622 Late-onset_Hereditary_Lymphedema 10 99 --- --- --- --- PASS KIF1C 10749 broad.mit.edu 37 17 4908161 4908161 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:4908161G>A uc002gan.1 + 13 1357 c.1031G>A c.(1030-1032)CGC>CAC p.R344H NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 344 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 TATGCTGACCGCACCAAGCAA 0.612 5 129 --- --- --- --- PASS TEKT1 83659 broad.mit.edu 37 17 6704111 6704111 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:6704111T>C uc002gdt.2 - 7 1114 c.1004A>G c.(1003-1005)TAT>TGT p.Y335C TEKT1_uc010vth.1_Missense_Mutation_p.Y189C NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 335 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) CATTAGCCTATATTGTGCGAC 0.507 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 202 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8049287 8049287 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:8049287G>T uc002gkd.2 - 17 2445 c.2207C>A c.(2206-2208)CCC>CAC p.P736H PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.P720H NM_002616 NP_002607 O15534 PER1_HUMAN period 1 736 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CGACTCCGGGGGCTTCTTGTC 0.637 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 13 108 --- --- --- --- PASS RICH2 9912 broad.mit.edu 37 17 12883479 12883479 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:12883479G>C uc002gnr.3 + 19 2195 c.1868G>C c.(1867-1869)GGA>GCA p.G623A RICH2_uc010vvk.1_Missense_Mutation_p.G623A|RICH2_uc010vvl.1_Missense_Mutation_p.G617A|RICH2_uc002gns.3_Missense_Mutation_p.G417A|RICH2_uc010vvm.1_Missense_Mutation_p.G617A|RICH2_uc010vvn.1_Intron NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 623 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 GCTCAACCTGGAGCTCAGCCG 0.627 9 30 --- --- --- --- PASS TTC19 54902 broad.mit.edu 37 17 15907564 15907564 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:15907564C>G uc002gph.1 + 6 950 c.932C>G c.(931-933)GCT>GGT p.A311G TTC19_uc010cox.1_RNA NM_017775 NP_060245 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 190 TPR 2. cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGTATCTATGCTGCGCAGAAC 0.418 11 128 --- --- --- --- PASS NLK 51701 broad.mit.edu 37 17 26518101 26518101 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:26518101C>T uc010crj.2 + 9 1503 c.1291C>T c.(1291-1293)CGA>TGA p.R431* NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 431 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGATGAAGGGCGACTACGATA 0.423 9 122 --- --- --- --- PASS NEK8 284086 broad.mit.edu 37 17 27066122 27066122 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:27066122G>A uc002hcp.2 + 10 1320 c.1320G>A c.(1318-1320)TTG>TTA p.L440L NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 440 RCC1 2. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) TGGAGGCTTTGCTGGGCTATG 0.587 7 147 --- --- --- --- PASS KRT12 3859 broad.mit.edu 37 17 39017927 39017927 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:39017927C>G uc002hvk.2 - 8 1495 c.1471G>C c.(1471-1473)GAA>CAA p.E491Q NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 491 Tail. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) ATTAGTTCTTCAATTTCCTGA 0.373 10 121 --- --- --- --- PASS CNTNAP1 8506 broad.mit.edu 37 17 40837258 40837258 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:40837258G>A uc002iay.2 + 5 751 c.535G>A c.(535-537)GGC>AGC p.G179S CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 179 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTATTTCGACGGCGACGATGC 0.627 4 127 --- --- --- --- PASS DHX8 1659 broad.mit.edu 37 17 41570888 41570888 + Silent SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:41570888G>C uc002idu.1 + 7 1012 c.939G>C c.(937-939)GTG>GTC p.V313V DHX8_uc010wif.1_Silent_p.V222V|DHX8_uc010wig.1_Silent_p.V313V NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 313 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CTGATGTCGTGAGCAAAGGCC 0.572 11 137 --- --- --- --- PASS TTLL6 284076 broad.mit.edu 37 17 46863659 46863659 + Missense_Mutation SNP T G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:46863659T>G uc010wlo.1 - 13 1663 c.1628A>C c.(1627-1629)AAG>ACG p.K543T TTLL6_uc002iob.2_Missense_Mutation_p.K236T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.K296T|TTLL6_uc002iod.2_Missense_Mutation_p.K390T NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 495 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 TTGGAAGGGCTTTTTCTCCCG 0.522 10 462 --- --- --- --- PASS PHB 5245 broad.mit.edu 37 17 47482457 47482457 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:47482457C>T uc002iox.1 - 7 789 c.716G>A c.(715-717)CGC>CAC p.R239H NM_002634 NP_002625 P35232 PHB_HUMAN prohibitin 239 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding 0 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) TTCCAGCTTGCGCAGCTCGAT 0.622 3 18 --- --- --- --- PASS EME1 146956 broad.mit.edu 37 17 48458295 48458295 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:48458295G>C uc002iqs.1 + 9 1781 c.1708G>C c.(1708-1710)GAC>CAC p.D570H EME1_uc010dbp.1_Missense_Mutation_p.D583H|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank NM_152463 NP_689676 Q96AY2 EME1_HUMAN essential meiotic endonuclease 1 homolog 1 570 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) AGATAGTGCTGACTGATTCTA 0.502 Direct_reversal_of_damage|Homologous_recombination 4 77 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48917580 48917580 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:48917580G>T uc002isv.3 + 2 1625 c.931G>T c.(931-933)GCA>TCA p.A311S WFIKKN2_uc010dbu.2_Missense_Mutation_p.A218S NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 311 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TCATCAGGCTGCAGCCACCTC 0.662 7 62 --- --- --- --- PASS RNFT1 51136 broad.mit.edu 37 17 58040334 58040334 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:58040334G>A uc002iya.2 - 2 461 c.368C>T c.(367-369)GCA>GTA p.A123V uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.A123V|RNFT1_uc002iyd.3_Missense_Mutation_p.A123V NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 123 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) AGTCAGCCTTGCTTCACTGTG 0.483 5 122 --- --- --- --- PASS AXIN2 8313 broad.mit.edu 37 17 63554607 63554607 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:63554607C>T uc002jfi.2 - 2 421 c.132G>A c.(130-132)CAG>CAA p.Q44Q AXIN2_uc010den.1_Silent_p.Q44Q|AXIN2_uc002jfh.2_Silent_p.Q44Q|AXIN2_uc002jfj.1_Silent_p.Q44Q NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 44 QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 GTTTGGTGACCTGGCCCTTGC 0.682 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 5 100 --- --- --- --- PASS PRPSAP1 5635 broad.mit.edu 37 17 74308994 74308994 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr17:74308994G>C uc010wta.1 - 9 1402 c.956C>G c.(955-957)TCT>TGT p.S319C PRPSAP1_uc010wtb.1_Missense_Mutation_p.S216C NM_002766 NP_002757 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate 290 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity ovary(1) 1 GGCCTCTGCAGACAGGATGCC 0.502 15 108 --- --- --- --- PASS TXNDC2 84203 broad.mit.edu 37 18 9886977 9886977 + Silent SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr18:9886977C>A uc002koi.3 + 2 950 c.501C>A c.(499-501)GCC>GCA p.A167A TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Silent_p.A100A NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 167 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|4. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 TTCCCAAGGCCTCAGTGAAGC 0.552 7 229 --- --- --- --- PASS CABLES1 91768 broad.mit.edu 37 18 20768804 20768804 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr18:20768804G>A uc002kuc.2 + 2 848 c.848G>A c.(847-849)CGG>CAG p.R283Q CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.R18Q NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 283 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTCTGCAGACGGCGCCTCATC 0.408 4 61 --- --- --- --- PASS RNF152 220441 broad.mit.edu 37 18 59483590 59483590 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr18:59483590G>A uc002lih.1 - 2 519 c.107C>T c.(106-108)TCA>TTA p.S36L NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 36 RING-type. apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) CAGGCACACTGAACAGCAGGT 0.612 13 106 --- --- --- --- PASS GALR1 2587 broad.mit.edu 37 18 74962959 74962959 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr18:74962959C>T uc002lms.3 + 1 952 c.455C>T c.(454-456)GCG>GTG p.A152V NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 152 Helical; Name=4; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TCCCGCAACGCGCTGCTGGGC 0.692 8 70 --- --- --- --- PASS POLR2E 5434 broad.mit.edu 37 19 1090909 1090909 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:1090909C>T uc002lre.3 - 4 504 c.427G>A c.(427-429)GAG>AAG p.E143K POLR2E_uc010xgf.1_RNA NM_002695 NP_002686 P19388 RPAB1_HUMAN DNA directed RNA polymerase II polypeptide E 143 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCCCACCTCGTGCTCCGTG 0.647 6 52 --- --- --- --- PASS AES 166 broad.mit.edu 37 19 3061229 3061229 + Silent SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:3061229G>C uc002lwy.1 - 2 227 c.54C>G c.(52-54)CTC>CTG p.L18L AES_uc002lwz.1_Silent_p.L18L|AES_uc002lxa.1_5'UTR|AES_uc002lxb.1_Silent_p.L85L|AES_uc002lxc.2_Silent_p.L85L NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 18 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTGAATTTGAGTTGCTGGG 0.652 17 205 --- --- --- --- PASS LONP1 9361 broad.mit.edu 37 19 5711826 5711826 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:5711826C>G uc002mcx.2 - 4 859 c.826G>C c.(826-828)GAG>CAG p.E276Q LONP1_uc002mcy.2_Missense_Mutation_p.E212Q|LONP1_uc010duh.2_Missense_Mutation_p.E17Q|LONP1_uc010dui.2_Intron|LONP1_uc002mcz.2_Missense_Mutation_p.E80Q NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 276 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 ACAACGTTCTCTACCTCCACC 0.672 9 136 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6828713 6828713 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:6828713G>C uc002mfu.1 + 12 1270 c.1173G>C c.(1171-1173)GAG>GAC p.E391D VAV1_uc010xjh.1_Missense_Mutation_p.E359D|VAV1_uc010dva.1_Missense_Mutation_p.E391D|VAV1_uc002mfv.1_Missense_Mutation_p.E336D NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 391 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TGTCCATTGAGAACCTGGTGA 0.627 19 229 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9065822 9065822 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:9065822G>T uc002mkp.2 - 3 21828 c.21624C>A c.(21622-21624)GCC>GCA p.A7208A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7210 Ser-rich.|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 TTGGTGATGTGGCTTTGGATG 0.473 20 179 --- --- --- --- PASS DDX39 10212 broad.mit.edu 37 19 14522397 14522397 + Missense_Mutation SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:14522397A>G uc010xnp.1 - 4 395 c.350T>C c.(349-351)GTC>GCC p.V117A DDX39_uc002myo.2_Missense_Mutation_p.V117A|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.V117A NM_005804 NP_005795 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 117 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding 0 GTGGCACATGACCAGGACCGT 0.582 6 66 --- --- --- --- PASS CYP4F11 57834 broad.mit.edu 37 19 16035633 16035633 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:16035633G>A uc002nbu.2 - 6 621 c.585C>T c.(583-585)ATC>ATT p.I195I CYP4F11_uc010eab.1_Silent_p.I195I|CYP4F11_uc002nbt.2_Silent_p.I195I NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 195 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 TCATGAGGCTGATGTGTTCAA 0.532 7 72 --- --- --- --- PASS SIN3B 23309 broad.mit.edu 37 19 16942351 16942351 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:16942351G>A uc002ney.1 + 3 288 c.274G>A c.(274-276)GAG>AAG p.E92K SIN3B_uc002new.2_Missense_Mutation_p.E92K|SIN3B_uc002nex.2_Missense_Mutation_p.E24K|SIN3B_uc002nez.1_Missense_Mutation_p.E92K NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 92 Interaction with REST (By similarity).|PAH 1. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 GCTCTTCCACGAGCACCCTGA 0.453 7 241 --- --- --- --- PASS TSSK6 83983 broad.mit.edu 37 19 19625912 19625912 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:19625912C>T uc002nmr.2 - 1 558 c.325G>A c.(325-327)GGA>AGA p.G109R TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 109 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 GCCTGAACTCCGGGGATGCGC 0.637 6 61 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31769840 31769840 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:31769840G>T uc002nsy.3 - 2 924 c.859C>A c.(859-861)CTG>ATG p.L287M NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 287 C2H2-type 2. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AAATCCTGCAGGGACTCAAAG 0.522 6 154 --- --- --- --- PASS ZNF567 163081 broad.mit.edu 37 19 37210533 37210533 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:37210533C>G uc010xtl.1 + 6 1129 c.907C>G c.(907-909)CAC>GAC p.H303D ZNF567_uc002oeo.1_Missense_Mutation_p.H303D|ZNF567_uc010xtk.1_Missense_Mutation_p.H303D|ZNF567_uc002oep.3_Missense_Mutation_p.H272D|ZNF567_uc002oeq.1_Missense_Mutation_p.H272D NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 303 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCAGAGAACTCACACAGGAGA 0.423 3 56 --- --- --- --- PASS PSG11 5680 broad.mit.edu 37 19 43523150 43523150 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:43523150C>T uc002ovm.1 - 3 588 c.481G>A c.(481-483)GCC>ACC p.A161T PSG11_uc002ouw.2_Missense_Mutation_p.A167T|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A167T|PSG11_uc002ovn.1_Missense_Mutation_p.A167T|PSG11_uc002ovo.1_Missense_Mutation_p.A39T|PSG11_uc002ovp.1_Missense_Mutation_p.A39T NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 161 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) GTCTCCATGGCCTCCCTGGGG 0.522 17 311 --- --- --- --- PASS RCN3 57333 broad.mit.edu 37 19 50046438 50046438 + Missense_Mutation SNP G A A rs139927137 by1000genomes TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:50046438G>A uc002poj.2 + 7 1402 c.955G>A c.(955-957)GAG>AAG p.E319K NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 319 endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CAACTATGGCGAGGACCTGAC 0.632 3 45 --- --- --- --- PASS ZNF614 80110 broad.mit.edu 37 19 52519532 52519532 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:52519532C>T uc002pyj.2 - 5 1721 c.1319G>A c.(1318-1320)CGC>CAC p.R440H ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.R143H NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 440 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AATAAGAGTGCGCTTTGTGGT 0.408 8 186 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55708603 55708603 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:55708603C>A uc002qjq.2 - 9 1945 c.1872G>T c.(1870-1872)AGG>AGT p.R624S PTPRH_uc010esv.2_Missense_Mutation_p.R446S|PTPRH_uc002qjs.2_Missense_Mutation_p.R631S NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 624 Extracellular (Potential).|Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCTCATTGGTCCTGCTGGTCT 0.577 21 114 --- --- --- --- PASS ZSCAN22 342945 broad.mit.edu 37 19 58849911 58849911 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:58849911C>T uc002qsc.2 + 3 842 c.695C>T c.(694-696)GCG>GTG p.A232V ZSCAN22_uc010yhz.1_Missense_Mutation_p.R227C NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 232 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) AGTTCTAGTGCGTGGCCAAAC 0.522 22 307 --- --- --- --- PASS ZNF324B 388569 broad.mit.edu 37 19 58966636 58966636 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr19:58966636G>A uc002qsv.1 + 4 432 c.325G>A c.(325-327)GTC>ATC p.V109I ZNF324B_uc002qsu.1_Missense_Mutation_p.V99I|ZNF324B_uc010euq.1_Missense_Mutation_p.V109I NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GACTACTAGCGTCTTCCCAGT 0.547 7 101 --- --- --- --- PASS XRN2 22803 broad.mit.edu 37 20 21328833 21328833 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr20:21328833C>T uc002wsf.1 + 18 1810 c.1715C>T c.(1714-1716)GCT>GTT p.A572V XRN2_uc002wsg.1_Missense_Mutation_p.A496V|XRN2_uc010zsk.1_Missense_Mutation_p.A518V NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 572 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 GCACCATTTGCTTCAGACTTT 0.348 4 80 --- --- --- --- PASS DLGAP4 22839 broad.mit.edu 37 20 35127697 35127697 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr20:35127697C>T uc002xff.2 + 9 2498 c.2063C>T c.(2062-2064)GCG>GTG p.A688V DLGAP4_uc010zvp.1_Missense_Mutation_p.A688V|DLGAP4_uc002xfg.2_Intron|DLGAP4_uc002xfh.2_Intron|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'UTR NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GGACCCAAAGCGATCGATGTG 0.433 4 88 --- --- --- --- PASS PTGIS 5740 broad.mit.edu 37 20 48164500 48164500 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr20:48164500C>T uc002xut.2 - 3 309 c.255G>A c.(253-255)GCG>GCA p.A85A PTGIS_uc010zyi.1_Intron NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 85 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CCCACACCACCGCGTCGTAGG 0.557 5 140 --- --- --- --- PASS TAF4 6874 broad.mit.edu 37 20 60578821 60578821 + Silent SNP C T T rs140240263 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr20:60578821C>T uc002ybs.2 - 8 2337 c.2337G>A c.(2335-2337)ACG>ACA p.T779T NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 779 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCTGCTGAGGCGTGGTGAGCA 0.677 4 30 --- --- --- --- PASS ZNF512B 57473 broad.mit.edu 37 20 62591483 62591483 + Nonsense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr20:62591483G>A uc002yhl.1 - 17 2491 c.2437C>T c.(2437-2439)CGA>TGA p.R813* NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GCTGATGTTCGGAACCAGTTC 0.552 11 75 --- --- --- --- PASS MRAP 56246 broad.mit.edu 37 21 33684247 33684247 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr21:33684247C>T uc002ypj.2 + 5 646 c.459C>T c.(457-459)CTC>CTT p.L153L MRAP_uc002ypk.2_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.1_Silent_p.L94L|MRAP_uc002ypl.2_Silent_p.L153L NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 153 Extracellular (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 GGGGTCCCCTCGTCAGGAGCA 0.602 5 116 --- --- --- --- PASS PRDM15 63977 broad.mit.edu 37 21 43277285 43277285 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr21:43277285C>A uc002yzq.1 - 11 1494 c.1383G>T c.(1381-1383)AAG>AAT p.K461N PRDM15_uc002yzo.2_Missense_Mutation_p.K132N|PRDM15_uc002yzp.2_Missense_Mutation_p.K132N|PRDM15_uc002yzr.1_Missense_Mutation_p.K132N NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 461 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGCCTTTACCTTCAGGGGAA 0.527 7 78 --- --- --- --- PASS FTCD 10841 broad.mit.edu 37 21 47575431 47575431 + Nonsense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr21:47575431G>A uc002zif.2 - 1 51 c.7C>T c.(7-9)CAG>TAG p.Q3* FTCD_uc002zig.2_Nonsense_Mutation_p.Q3*|FTCD_uc002zih.2_Nonsense_Mutation_p.Q3*|FTCD_uc010gqf.2_Nonsense_Mutation_p.Q3*|FTCD_uc010gqg.1_5'UTR NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 3 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCCACCAGCTGGGACATGGCC 0.622 13 58 --- --- --- --- PASS FTCD 10841 broad.mit.edu 37 21 47575432 47575432 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr21:47575432G>A uc002zif.2 - 1 50 c.6C>T c.(4-6)TCC>TCT p.S2S FTCD_uc002zig.2_Silent_p.S2S|FTCD_uc002zih.2_Silent_p.S2S|FTCD_uc010gqf.2_Silent_p.S2S|FTCD_uc010gqg.1_5'UTR NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 2 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCACCAGCTGGGACATGGCCA 0.622 13 58 --- --- --- --- PASS SLC25A18 83733 broad.mit.edu 37 22 18070729 18070729 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:18070729C>T uc002zmp.1 + 9 1108 c.614C>T c.(613-615)GCC>GTC p.A205V SLC25A18_uc010gqx.2_Missense_Mutation_p.A205V|SLC25A18_uc002zmq.1_Missense_Mutation_p.A205V NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 205 Solcar 2.|Helical; Name=4; (Potential). integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) CCACTGTTTGCCAACCTTAAC 0.557 6 135 --- --- --- --- PASS ARVCF 421 broad.mit.edu 37 22 19959465 19959465 + Missense_Mutation SNP G A A rs34687532 byFrequency TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:19959465G>A uc002zqz.2 - 18 2996 c.2725C>T c.(2725-2727)CGG>TGG p.R909W ARVCF_uc002zqy.2_Missense_Mutation_p.R425W NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 909 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CGTGGCCTCCGCTCCCTCCGG 0.647 8 114 --- --- --- --- PASS KLHL22 84861 broad.mit.edu 37 22 20819605 20819605 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:20819605G>T uc002zsl.1 - 4 761 c.652C>A c.(652-654)CTT>ATT p.L218I KLHL22_uc011ahr.1_Missense_Mutation_p.L75I|KLHL22_uc002zsm.1_Missense_Mutation_p.L218I NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 218 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGGTAGAGAAGGGCCCCCTCA 0.582 3 49 --- --- --- --- PASS KLHL22 84861 broad.mit.edu 37 22 20819760 20819760 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:20819760C>T uc002zsl.1 - 4 606 c.497G>A c.(496-498)CGC>CAC p.R166H KLHL22_uc011ahr.1_Missense_Mutation_p.R23H|KLHL22_uc002zsm.1_Missense_Mutation_p.R166H NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 166 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CTCAGTCAGGCGGCTCAAGTC 0.502 7 63 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21064988 21064988 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:21064988G>A uc002zsz.3 - 52 6139 c.5908C>T c.(5908-5910)CGG>TGG p.R1970W PI4KA_uc010gsp.2_Missense_Mutation_p.R361W|PI4KA_uc002zsy.3_Missense_Mutation_p.R780W NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1970 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CAGGCTCACCGCACAGCCAGG 0.587 4 84 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26422432 26422432 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:26422432C>A uc003abz.1 + 43 6742 c.6492C>A c.(6490-6492)GAC>GAA p.D2164E MYO18B_uc003aca.1_Missense_Mutation_p.D2045E|MYO18B_uc010guy.1_Missense_Mutation_p.D2046E|MYO18B_uc010guz.1_Missense_Mutation_p.D2044E|MYO18B_uc011aka.1_Missense_Mutation_p.D1318E|MYO18B_uc011akb.1_Missense_Mutation_p.D1677E|MYO18B_uc010gva.1_Missense_Mutation_p.D147E|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2164 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AGGCTGGGGACACTGAGAGGA 0.512 15 258 --- --- --- --- PASS SEC14L3 266629 broad.mit.edu 37 22 30864530 30864530 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:30864530G>A uc003ahy.2 - 5 477 c.388C>T c.(388-390)CGC>TGC p.R130C SEC14L3_uc003ahz.2_Missense_Mutation_p.R53C|SEC14L3_uc003aia.2_Missense_Mutation_p.R71C|SEC14L3_uc003aib.2_Missense_Mutation_p.R71C NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 130 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) TGCAGGATGCGCTCACAGTCC 0.607 9 112 --- --- --- --- PASS TMPRSS6 164656 broad.mit.edu 37 22 37491609 37491609 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:37491609C>A uc003aqs.1 - 6 754 c.640G>T c.(640-642)GCA>TCA p.A214S TMPRSS6_uc003aqt.1_Missense_Mutation_p.A205S|TMPRSS6_uc003aqu.2_Missense_Mutation_p.A205S NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 214 CUB 1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 GAATTCAATGCAGCTATGTCT 0.308 6 57 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40038863 40038863 + Missense_Mutation SNP A G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:40038863A>G uc003ayc.2 + 7 1118 c.1118A>G c.(1117-1119)TAC>TGC p.Y373C CACNA1I_uc003ayd.2_Missense_Mutation_p.Y373C|CACNA1I_uc003aye.2_Missense_Mutation_p.Y288C|CACNA1I_uc003ayf.2_Missense_Mutation_p.Y288C NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 373 I.|Extracellular (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CACTCCTTCTACAACTTCATC 0.557 5 20 --- --- --- --- PASS SLC25A17 10478 broad.mit.edu 37 22 41173355 41173355 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:41173355G>A uc003azc.2 - 6 614 c.474C>T c.(472-474)CGC>CGT p.R158R SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_Silent_p.R121R|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Silent_p.R85R NM_006358 NP_006349 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; 158 Lumenal (Potential).|Solcar 2. fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding 0 TTCCTTCATCGCGAATGATCT 0.408 5 49 --- --- --- --- PASS TUBGCP6 85378 broad.mit.edu 37 22 50657616 50657616 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr22:50657616C>T uc003bkb.1 - 20 5019 c.4507G>A c.(4507-4509)GCT>ACT p.A1503T TUBGCP6_uc003bka.1_Missense_Mutation_p.A590T|TUBGCP6_uc010har.1_Missense_Mutation_p.A1495T|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1503 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TAGTCGACAGCGGCCTTGTTC 0.662 4 27 --- --- --- --- PASS ARSH 347527 broad.mit.edu 37 X 2945446 2945446 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:2945446G>A uc011mhj.1 + 7 1129 c.1129G>A c.(1129-1131)GAG>AAG p.E377K NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 377 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGTGATCAATGAGCCCACCAG 0.527 5 144 --- --- --- --- PASS ATXN3L 92552 broad.mit.edu 37 X 13337594 13337594 + Nonsense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:13337594G>A uc010ned.2 - 1 925 c.460C>T c.(460-462)CGA>TGA p.R154* NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 154 Josephin. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 TGTTGTAATCGAGCCAAGAAA 0.398 9 81 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17744705 17744705 + Nonsense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:17744705C>T uc004cxx.2 + 6 2754 c.2416C>T c.(2416-2418)CAG>TAG p.Q806* NHS_uc011mix.1_Nonsense_Mutation_p.Q827*|NHS_uc004cxy.2_Nonsense_Mutation_p.Q650*|NHS_uc004cxz.2_Nonsense_Mutation_p.Q629*|NHS_uc004cya.2_Nonsense_Mutation_p.Q529* NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 806 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) TTGTGCCTGGCAGGACTACTT 0.522 8 276 --- --- --- --- PASS PPEF1 5475 broad.mit.edu 37 X 18775754 18775754 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:18775754G>A uc004cyq.2 + 8 887 c.406G>A c.(406-408)GCC>ACC p.A136T PPEF1_uc004cyp.2_Missense_Mutation_p.A136T|PPEF1_uc004cyr.2_Missense_Mutation_p.A136T|PPEF1_uc004cys.2_Missense_Mutation_p.A136T|PPEF1_uc011mja.1_Missense_Mutation_p.A71T|PPEF1_uc011mjb.1_Missense_Mutation_p.A80T NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 136 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) GATACTTCATGCCCATTATGT 0.413 9 391 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27998586 27998586 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:27998586G>A uc004dbx.1 - 1 981 c.866C>T c.(865-867)GCC>GTC p.A289V NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 289 WD 3. ovary(3)|skin(1) 4 CAACTCGTGGGCAGGTCCCCT 0.527 8 114 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37027835 37027835 + Missense_Mutation SNP G C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:37027835G>C uc004ddl.1 + 1 1366 c.1352G>C c.(1351-1353)CGC>CCC p.R451P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 451 ovary(3) 3 TCCCATCTCCGCCCAGAGCCT 0.617 16 103 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37913575 37913575 + Silent SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:37913575C>A uc004ddu.2 + 4 763 c.229C>A c.(229-231)CGG>AGG p.R77R SYTL5_uc004ddv.2_Silent_p.R77R|SYTL5_uc004ddx.2_Silent_p.R77R NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 77 FYVE-type.|RabBD. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 AATCTTTGACCGGGGAGACCC 0.507 16 115 --- --- --- --- PASS ARAF 369 broad.mit.edu 37 X 47426043 47426043 + Missense_Mutation SNP G A A rs66933407 TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:47426043G>A uc011mlq.1 + 7 696 c.563G>A c.(562-564)CGC>CAC p.R188H ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.R54H|ARAF_uc011mlp.1_Missense_Mutation_p.R188H|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 188 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) GGCAGCCCCCGCACCCAGCAC 0.622 4 32 --- --- --- --- PASS MAGED1 9500 broad.mit.edu 37 X 51640678 51640678 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:51640678G>A uc004dpm.2 + 6 1617 c.1522G>A c.(1522-1524)GTT>ATT p.V508I MAGED1_uc004dpn.2_Missense_Mutation_p.V564I|MAGED1_uc004dpo.2_Missense_Mutation_p.V508I NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 508 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) ATACACTGATGTTTATCCAGA 0.493 Multiple Myeloma(10;0.10) 22 124 --- --- --- --- PASS HSD17B10 3028 broad.mit.edu 37 X 53459056 53459056 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:53459056G>A uc004dsl.1 - 4 397 c.366C>T c.(364-366)CTC>CTT p.L122L HSD17B10_uc004dsm.1_Silent_p.L122L NM_004493 NP_004484 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 122 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity 0 NADH(DB00157) AGGTGCCCATGAGATTCACCT 0.537 10 124 --- --- --- --- PASS FGD1 2245 broad.mit.edu 37 X 54476175 54476175 + Missense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:54476175G>T uc004dtg.2 - 14 2799 c.2065C>A c.(2065-2067)CTG>ATG p.L689M FGD1_uc011moi.1_Missense_Mutation_p.L447M NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 689 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 TCATGCTTCAGGAGGGTGGAG 0.517 8 130 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54954175 54954175 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:54954175C>T uc004dtq.2 + 11 1946 c.1839C>T c.(1837-1839)CAC>CAT p.H613H TRO_uc004dts.2_Silent_p.H613H|TRO_uc004dtr.2_Silent_p.H613H|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Silent_p.H216H|TRO_uc011mok.1_Silent_p.H144H|TRO_uc004dtw.2_Silent_p.H216H|TRO_uc004dtx.2_Translation_Start_Site NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 613 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GCTCCTACCACGAGACTAGCA 0.502 4 72 --- --- --- --- PASS EFNB1 1947 broad.mit.edu 37 X 68060194 68060194 + Silent SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:68060194C>T uc004dxd.3 + 5 1518 c.738C>T c.(736-738)GCC>GCT p.A246A EFNB1_uc004dxe.2_Silent_p.A246A NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 246 Helical; (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 CTGTCGGTGCCGGTTGCGTCA 0.612 8 41 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83723684 83723684 + Missense_Mutation SNP C T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:83723684C>T uc004eek.1 - 3 1156 c.1047G>A c.(1045-1047)ATG>ATA p.M349I HDX_uc011mqv.1_Missense_Mutation_p.M349I|HDX_uc004eel.1_Missense_Mutation_p.M291I NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 349 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GTGAATTTGGCATATTTCTTC 0.408 8 117 --- --- --- --- PASS BHLHB9 80823 broad.mit.edu 37 X 102005284 102005284 + Missense_Mutation SNP C G G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:102005284C>G uc010nog.2 + 4 1932 c.1361C>G c.(1360-1362)TCC>TGC p.S454C BHLHB9_uc011mrq.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrr.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrs.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrt.1_Missense_Mutation_p.S454C|BHLHB9_uc004ejo.2_Missense_Mutation_p.S454C|BHLHB9_uc011mru.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrv.1_Missense_Mutation_p.S454C NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 454 cytoplasm|nucleus binding ovary(2) 2 CATTTGCTGTCCTCAGGAAAT 0.368 19 159 --- --- --- --- PASS CXorf41 139212 broad.mit.edu 37 X 106462113 106462113 + Silent SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:106462113G>A uc004enc.2 + 4 308 c.246G>A c.(244-246)GAG>GAA p.E82E CXorf41_uc004end.2_Silent_p.E82E NM_173494 NP_775765 Q9NQM4 CX041_HUMAN hypothetical protein LOC139212 82 0 AAACCAGCGAGGAAAATAATG 0.398 3 60 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111195610 111195610 + Silent SNP C T T rs150908311 byFrequency TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:111195610C>T uc004epl.1 - 2 958 c.39G>A c.(37-39)CCG>CCA p.P13P TRPC5_uc004epm.1_Silent_p.P13P NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 13 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GGTCTCTGTACGGTGAGTAGT 0.483 6 122 --- --- --- --- PASS CUL4B 8450 broad.mit.edu 37 X 119680457 119680457 + Missense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:119680457C>A uc004esw.2 - 6 1282 c.845G>T c.(844-846)AGC>ATC p.S282I CUL4B_uc010nqq.2_5'UTR|CUL4B_uc004esv.2_Missense_Mutation_p.S264I NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 282 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 AAAAAGAACGCTATCCAATGA 0.333 6 54 --- --- --- --- PASS XIAP 331 broad.mit.edu 37 X 123019782 123019782 + Nonsense_Mutation SNP C A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:123019782C>A uc010nqu.2 + 2 396 c.270C>A c.(268-270)TGC>TGA p.C90* XIAP_uc004etx.2_Nonsense_Mutation_p.C90*|XIAP_uc010nqv.2_Intron NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 90 BIR 1. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 CCCCAAATTGCAGATTTATCA 0.423 X-linked_Lymphoproliferative_syndrome 21 131 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 124097472 124097472 + Missense_Mutation SNP T C C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:124097472T>C uc004euj.2 - 1 195 c.131A>G c.(130-132)GAG>GGG p.E44G ODZ1_uc011muj.1_Missense_Mutation_p.E44G|ODZ1_uc010nqy.2_Missense_Mutation_p.E44G NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 44 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.E44K(1) ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTGCAGGGTCTCCCTGGAGTT 0.408 8 487 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128674794 128674794 + Missense_Mutation SNP A T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:128674794A>T uc004euq.2 + 2 278 c.113A>T c.(112-114)CAA>CTA p.Q38L OCRL_uc004eur.2_Missense_Mutation_p.Q38L NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 38 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 AGGAACGGGCAATATGAGTAA 0.597 12 105 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130220305 130220305 + Silent SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:130220305G>T uc004evz.2 + 10 1629 c.1284G>T c.(1282-1284)GTG>GTT p.V428V ARHGAP36_uc004ewa.2_Silent_p.V416V|ARHGAP36_uc004ewb.2_Silent_p.V397V|ARHGAP36_uc004ewc.2_Silent_p.V292V NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 428 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 ACCCTCAGGTGCCTCCCCATA 0.483 7 78 --- --- --- --- PASS EMD 2010 broad.mit.edu 37 X 153609143 153609143 + Missense_Mutation SNP G A A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:153609143G>A uc004fkl.2 + 5 678 c.430G>A c.(430-432)GAA>AAA p.E144K NM_000117 NP_000108 P50402 EMD_HUMAN emerin 144 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCTTCTTCTGAAGAGGAGTG 0.612 18 204 --- --- --- --- PASS EMD 2010 broad.mit.edu 37 X 153609540 153609540 + Nonsense_Mutation SNP G T T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chrX:153609540G>T uc004fkl.2 + 6 996 c.748G>T c.(748-750)GAA>TAA p.E250* NM_000117 NP_000108 P50402 EMD_HUMAN emerin 250 cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAGGCTGAAGAAGGCAACCC 0.527 9 79 --- --- --- --- PASS LOC100132247 100132247 broad.mit.edu 37 16 22545666 22545684 + Frame_Shift_Del DEL TGAGCGTCTGCGGGGGCCG - - TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0 b8840076-c0a1-469e-ac61-efbf06758422 g.chr16:22545666_22545684delTGAGCGTCTGCGGGGGCCG uc010bxg.2 + 9 1544_1562 c.1362_1380delTGAGCGTCTGCGGGGGCCG c.(1360-1380)GCTGAGCGTCTGCGGGGGCCGfs p.A454fs LOC100132247_uc010vbv.1_Frame_Shift_Del_p.A454fs|LOC100132247_uc010vbw.1_Frame_Shift_Del_p.A454fs|LOC100132247_uc010bxi.2_Frame_Shift_Del_p.A435fs|LOC100132247_uc010bxk.2_Frame_Shift_Del_p.A271fs NM_001135865 NP_001129337 A8MRT5 K220L_HUMAN hypothetical protein LOC100132247 454_460 Pro-rich. integral to membrane 0 AGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCT 0.557 3 4 --- --- --- ---