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 SLC35E2 9906 broad.mit.edu 37 1 1666215 1666215 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:1666215C>A uc001aib.1 - 5 1062 c.646G>T c.(646-648)GCT>TCT p.A216S SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Missense_Mutation_p.A216S|SLC35E2_uc001ahz.2_Missense_Mutation_p.A216S NM_182838 NP_878258 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 216 integral to membrane pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCAGAAGCAGCAGCACCACGT 0.547 10 54 --- --- --- --- PASS NPHP4 261734 broad.mit.edu 37 1 5964865 5964865 + Splice_Site SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:5964865C>A uc001alq.1 - 16 2222 c.1956_splice c.e16-1 p.R652_splice NPHP4_uc001als.1_Splice_Site|NPHP4_uc009vlt.1_Splice_Site|NPHP4_uc001alt.1_Splice_Site|NPHP4_uc009vlu.1_Splice_Site NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGCCACTCTGAATCCAAC 0.542 36 71 --- --- --- --- PASS RNF207 388591 broad.mit.edu 37 1 6272764 6272764 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:6272764G>C uc001amg.2 + 15 1679 c.1505G>C c.(1504-1506)CGA>CCA p.R502P RNF207_uc010nzp.1_RNA NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN ring finger protein 207 502 Potential. intracellular zinc ion binding 0 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GCCTATCAGCGAGTGGCTAAT 0.498 38 117 --- --- --- --- PASS SPATA21 374955 broad.mit.edu 37 1 16748415 16748415 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:16748415G>C uc001ayn.2 - 4 569 c.86C>G c.(85-87)GCA>GGA p.A29G SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Intron NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 29 calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) CCCTCCTTTTGCTTTTTTAGG 0.448 117 225 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16902793 16902793 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:16902793C>A uc009vos.1 - 19 2976 c.2088G>T c.(2086-2088)CTG>CTT p.L696L NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.L154L|NBPF1_uc010oce.1_Silent_p.L425L NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 696 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGTGCTGTGCCAGTCTACACC 0.567 19 630 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22165442 22165442 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:22165442C>T uc001bfj.2 - 74 10066 c.10026G>A c.(10024-10026)AGG>AGA p.R3342R HSPG2_uc009vqd.2_Silent_p.R3343R NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3342 Ig-like C2-type 19. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGCGGTCGCCCTCCCAGGAA 0.692 11 20 --- --- --- --- PASS CCDC28B 79140 broad.mit.edu 37 1 32669966 32669966 + Nonsense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:32669966C>T uc001bul.1 + 4 643 c.511C>T c.(511-513)CAG>TAG p.Q171* CCDC28B_uc001buk.2_Nonsense_Mutation_p.Q171*|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 171 Potential. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TAACCTGGACCAGCTGCTTAG 0.577 34 41 --- --- --- --- PASS ZNF362 149076 broad.mit.edu 37 1 33745931 33745931 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:33745931G>T uc001bxc.1 + 5 726 c.556G>T c.(556-558)GGC>TGC p.G186C NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN zinc finger protein 362 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CGGCCTGCTTGGCCCCCCCAA 0.662 13 45 --- --- --- --- PASS C1orf94 84970 broad.mit.edu 37 1 34663142 34663142 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:34663142G>T uc001bxs.3 + 2 466 c.67G>T c.(67-69)GCC>TCC p.A23S C1orf94_uc001bxt.2_Missense_Mutation_p.A213S NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 23 protein binding 0 Myeloproliferative disorder(586;0.0393) CATTCTGTGTGCCGCCGAGGT 0.557 16 81 --- --- --- --- PASS GJB4 127534 broad.mit.edu 37 1 35226920 35226920 + Missense_Mutation SNP G T T rs80358212 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:35226920G>T uc001bxv.1 + 2 435 c.65G>T c.(64-66)CGC>CTC p.R22L GJB4_uc001bxw.3_Missense_Mutation_p.R22L NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 22 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GTGCTGAGCCGCATCTGGCTG 0.577 28 42 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43775071 43775071 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:43775071A>T uc001ciu.2 + 9 1280 c.1201A>T c.(1201-1203)ATT>TTT p.I401F TIE1_uc010okd.1_Missense_Mutation_p.I401F|TIE1_uc010oke.1_Missense_Mutation_p.I356F|TIE1_uc009vwq.2_Missense_Mutation_p.I357F|TIE1_uc010okf.1_Missense_Mutation_p.I46F|TIE1_uc010okg.1_Missense_Mutation_p.I46F|TIE1_uc010okc.1_Missense_Mutation_p.H309L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 401 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CACCAAGGCCATTGTGGAGCC 0.612 16 72 --- --- --- --- PASS EPS15 2060 broad.mit.edu 37 1 51912683 51912683 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:51912683C>A uc001csq.1 - 10 838 c.746G>T c.(745-747)CGT>CTT p.R249L EPS15_uc009vyz.1_Missense_Mutation_p.R249L NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 249 EH 3.|EF-hand 2. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 GAATATTTCACGGACCTCCAA 0.338 T MLL ALL 64 165 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55563371 55563371 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:55563371G>C uc001cyg.3 - 45 5135 c.5135C>G c.(5134-5136)ACC>AGC p.T1712S NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1872 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 TTTAATACAGGTCCTTTTCAC 0.343 6 18 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67147845 67147845 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:67147845G>T uc001dcr.2 + 15 1325 c.1108G>T c.(1108-1110)GTA>TTA p.V370L SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.V137L NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 370 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TCCTCGCAATGTACTATCGCC 0.537 68 281 --- --- --- --- PASS ZZZ3 26009 broad.mit.edu 37 1 78097596 78097596 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:78097596C>A uc001dhq.2 - 5 1920 c.1444G>T c.(1444-1446)GAT>TAT p.D482Y ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.D482Y|ZZZ3_uc001dhp.2_Missense_Mutation_p.D482Y NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 GGATCATCATCTTCCTCTTCT 0.393 70 101 --- --- --- --- PASS EPHX4 253152 broad.mit.edu 37 1 92528829 92528829 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:92528829A>G uc001don.2 + 7 1179 c.1075A>G c.(1075-1077)AGA>GGA p.R359G NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 359 integral to membrane hydrolase activity central_nervous_system(1) 1 AGAAGAAACAAGAAAAAAAGA 0.294 35 41 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94463498 94463498 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:94463498C>T uc001dqh.2 - 48 6752 c.6648G>A c.(6646-6648)GCG>GCA p.A2216A NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 2216 Cytoplasmic. A -> V. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGAAGATCCTCGCCAGGGAGG 0.597 31 46 --- --- --- --- PASS ZNF687 57592 broad.mit.edu 37 1 151262644 151262644 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:151262644C>T uc001exq.2 + 7 3109 c.3011C>T c.(3010-3012)TCC>TTC p.S1004F ZNF687_uc009wmo.2_Missense_Mutation_p.S1004F|ZNF687_uc009wmp.2_Missense_Mutation_p.S1004F NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1004 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCTTCTGCTCCGCCCCCAGC 0.602 67 100 --- --- --- --- PASS LCE2B 26239 broad.mit.edu 37 1 152659545 152659545 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:152659545C>T uc001fai.2 + 2 280 c.226C>T c.(226-228)CAC>TAC p.H76Y NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 76 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGAGCCACCACAGGCCCCG 0.672 9 46 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156521502 156521502 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:156521502C>A uc001fpf.2 - 15 1804 c.1729G>T c.(1729-1731)GCC>TCC p.A577S IQGAP3_uc009wsb.1_Missense_Mutation_p.A534S NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 577 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCACCTGGGCCTTCTGCCTT 0.562 25 23 --- --- --- --- PASS SLAMF7 57823 broad.mit.edu 37 1 160719865 160719865 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:160719865G>T uc001fwq.2 + 3 646 c.631G>T c.(631-633)GCC>TCC p.A211S SLAMF7_uc010pjn.1_Missense_Mutation_p.A104S|SLAMF7_uc001fws.2_Missense_Mutation_p.A104S|SLAMF7_uc001fwr.2_Missense_Mutation_p.A211S|SLAMF7_uc010pjo.1_Intron|SLAMF7_uc010pjp.1_Missense_Mutation_p.A104S|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Missense_Mutation_p.A104S NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN SLAM family member 7 211 Extracellular (Potential). cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity skin(2)|ovary(1) 3 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCCCATCCTTGCCAGGAAGCT 0.562 66 75 --- --- --- --- PASS F11R 50848 broad.mit.edu 37 1 160990843 160990843 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:160990843G>C uc009wtt.2 - 1 291 c.21C>G c.(19-21)GTC>GTG p.V7V F11R_uc010pjv.1_Silent_p.V7V|F11R_uc001fxe.3_Silent_p.V7V|F11R_uc009wtu.2_Silent_p.V7V|F11R_uc010pjw.1_Intron|F11R_uc001fxf.3_Silent_p.V7V NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 7 blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GTTTCCTCTCGACTTGCGCCT 0.577 20 34 --- --- --- --- PASS ARHGAP30 257106 broad.mit.edu 37 1 161022516 161022516 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:161022516G>T uc001fxl.2 - 7 1082 c.736C>A c.(736-738)CCC>ACC p.P246T ARHGAP30_uc001fxk.2_Missense_Mutation_p.P246T|ARHGAP30_uc001fxm.2_Missense_Mutation_p.P92T|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.P92T NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 246 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGTGGCCTGGGCATAAGGTCC 0.592 22 34 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176905450 176905450 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:176905450G>A uc001glc.2 - 15 2646 c.2434C>T c.(2434-2436)CGG>TGG p.R812W ASTN1_uc001glb.1_Missense_Mutation_p.R812W|ASTN1_uc001gld.1_Missense_Mutation_p.R812W|ASTN1_uc009wwx.1_Missense_Mutation_p.R812W NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 820 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 ATCACAGACCGGACCTTCCAG 0.512 16 143 --- --- --- --- PASS SEC16B 89866 broad.mit.edu 37 1 177902716 177902716 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:177902716T>C uc001gli.1 - 21 2717 c.2627A>G c.(2626-2628)AAG>AGG p.K876R SEC16B_uc001glk.1_Missense_Mutation_p.K553R|SEC16B_uc009wwy.1_Missense_Mutation_p.K431R|SEC16B_uc001glh.1_Missense_Mutation_p.K535R|SEC16B_uc009wwz.1_Missense_Mutation_p.K535R|SEC16B_uc001glj.1_Missense_Mutation_p.K877R NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 876 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 CTCATCCTCCTTGGCTGAACT 0.418 3 88 --- --- --- --- PASS CDC73 79577 broad.mit.edu 37 1 193099325 193099325 + Nonsense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:193099325A>T uc001gtb.2 + 3 502 c.259A>T c.(259-261)AGA>TGA p.R87* NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 87 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 TCCTGTGGTTAGAAGACCTGA 0.274 Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 4 152 --- --- --- --- PASS ELF3 1999 broad.mit.edu 37 1 201983144 201983144 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:201983144G>A uc001gxg.3 + 7 4185 c.993G>A c.(991-993)CGG>CGA p.R331R ELF3_uc001gxi.3_Silent_p.R331R|ELF3_uc001gxh.3_Silent_p.R331R NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 331 ETS. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 AGCTGAGCCGGGCCATGAGGT 0.602 7 24 --- --- --- --- PASS FMOD 2331 broad.mit.edu 37 1 203317314 203317314 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:203317314G>A uc001gzr.2 - 2 221 c.85C>T c.(85-87)CAC>TAC p.H29Y FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 29 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) CGGAGGTAGTGGAACCACCAA 0.572 68 47 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222802777 222802777 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:222802777G>T uc001hnl.2 + 4 2224 c.2215G>T c.(2215-2217)GCA>TCA p.A739S MIA3_uc009xea.1_Missense_Mutation_p.A575S NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 739 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CGCTATAAATGCAAAACGGTC 0.433 99 69 --- --- --- --- PASS NVL 4931 broad.mit.edu 37 1 224475681 224475681 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:224475681C>T uc001hok.2 - 14 1633 c.1590G>A c.(1588-1590)AGG>AGA p.R530R NVL_uc001hol.2_Silent_p.R424R|NVL_uc010pvd.1_Silent_p.R439R|NVL_uc010pve.1_Silent_p.R341R|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 530 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) ACCCCAGCAGCCTTTGTAATT 0.393 71 55 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229619809 229619809 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:229619809T>A uc001htn.2 - 12 1676 c.1584A>T c.(1582-1584)CAA>CAT p.Q528H NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 528 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ACCTGCAGTATTGCAGAAAGG 0.348 92 51 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241901755 241901755 + Missense_Mutation SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:241901755A>C uc001hze.1 + 10 1462 c.1255A>C c.(1255-1257)ATG>CTG p.M419L WDR64_uc001hzf.1_Missense_Mutation_p.M139L B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 419 WD 5. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GATTTACTCTATGATATATGA 0.383 111 77 --- --- --- --- PASS MAP1LC3C 440738 broad.mit.edu 37 1 242159509 242159509 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:242159509T>A uc001hzk.2 - 4 475 c.400A>T c.(400-402)AGG>TGG p.R134W NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 134 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTCCCATCCCTGGGGGCTGCT 0.567 89 53 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436938 248436938 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:248436938A>G uc010pzi.1 - 1 179 c.179T>C c.(178-180)CTC>CCC p.L60P NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTGGCTCAGGAGGAAGTACAT 0.532 88 83 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248789591 248789591 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr1:248789591G>A uc001ier.1 - 1 839 c.839C>T c.(838-840)CCC>CTC p.P280L NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTAAGCATGGGCGTGACAAT 0.483 11 170 --- --- --- --- PASS GCKR 2646 broad.mit.edu 37 2 27730846 27730846 + Missense_Mutation SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:27730846A>C uc002rky.2 + 15 1309 c.1243A>C c.(1243-1245)AAC>CAC p.N415H GCKR_uc010ezd.2_Missense_Mutation_p.N413H|GCKR_uc010ylu.1_Missense_Mutation_p.N225H NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 415 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) TCTCCTAGACAACCTCACGGA 0.597 23 30 --- --- --- --- PASS VIT 5212 broad.mit.edu 37 2 37041330 37041330 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:37041330G>C uc002rpl.2 + 16 2129 c.1908G>C c.(1906-1908)GTG>GTC p.V636V VIT_uc002rpm.2_Silent_p.V614V|VIT_uc010ezv.2_Silent_p.V592V|VIT_uc010ezw.2_Silent_p.V593V NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 621 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CCACAGGAGTGATCACCTATG 0.522 20 93 --- --- --- --- PASS DYNC2LI1 51626 broad.mit.edu 37 2 44023055 44023055 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:44023055G>T uc002rtk.2 + 7 630 c.534G>T c.(532-534)CCG>CCT p.P178P DYNC2LI1_uc002rtj.2_Silent_p.P178P|DYNC2LI1_uc002rtl.2_Silent_p.P179P|DYNC2LI1_uc010ynz.1_Silent_p.P52P NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 178 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACCCATTTCCGGTACCTCTGG 0.348 66 91 --- --- --- --- PASS ABCG5 64240 broad.mit.edu 37 2 44051508 44051508 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:44051508T>A uc002rtn.2 - 8 1108 c.968A>T c.(967-969)CAG>CTG p.Q323L ABCG5_uc002rtm.2_Intron|ABCG5_uc002rto.2_Missense_Mutation_p.Q152L|ABCG5_uc002rtp.2_Intron NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 323 Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTCTATCATCTGGACTCTCTT 0.388 244 267 --- --- --- --- PASS DQX1 165545 broad.mit.edu 37 2 74750078 74750078 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:74750078G>T uc010yrw.1 - 7 1373 c.1208C>A c.(1207-1209)CCC>CAC p.P403H DQX1_uc002smc.2_5'UTR NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 403 Helicase C-terminal. nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 ACACACCCTGGGTTGTGGCAA 0.517 43 135 --- --- --- --- PASS RNF181 51255 broad.mit.edu 37 2 85823972 85823972 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:85823972A>T uc002spv.1 + 3 295 c.245A>T c.(244-246)GAA>GTA p.E82V NM_016494 NP_057578 Q9P0P0 RN181_HUMAN ring finger protein 181 82 RING-type; atypical. ligase activity|zinc ion binding 0 TGTCTTTTGGAATTTGAGGAG 0.527 125 245 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98736131 98736131 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:98736131C>T uc002syo.2 + 4 711 c.447C>T c.(445-447)GGC>GGT p.G149G VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.G149G|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 149 ovary(3)|large_intestine(2)|skin(1) 6 TGGATTTTGGCGGCATTCTGG 0.527 5 370 --- --- --- --- PASS SLC9A2 6549 broad.mit.edu 37 2 103324932 103324932 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:103324932G>T uc002tca.2 + 12 2565 c.2423G>T c.(2422-2424)GGG>GTG p.G808V NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 808 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GCCCGATTTGGGAGTGAGAAG 0.557 33 102 --- --- --- --- PASS NCK2 8440 broad.mit.edu 37 2 106498213 106498213 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:106498213G>T uc002tdg.2 + 4 1098 c.656G>T c.(655-657)GGG>GTG p.G219V NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.G219V NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 219 SH3 3. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 TTCGAGAAGGGGGAGACCATG 0.612 34 74 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120702715 120702715 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:120702715A>G uc002tmf.1 + 16 2185 c.1414A>G c.(1414-1416)AAA>GAA p.K472E PTPN4_uc010flj.1_Missense_Mutation_p.K185E|PTPN4_uc010yyr.1_Missense_Mutation_p.K105E NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 472 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) ACAGTCAAAGAAAAACAGTTG 0.363 43 86 --- --- --- --- PASS MCM6 4175 broad.mit.edu 37 2 136620287 136620287 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:136620287C>A uc002tuw.2 - 8 1186 c.1110G>T c.(1108-1110)CTG>CTT p.L370L NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 370 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CAAAGAGCATCAGCAGGACAC 0.418 70 116 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155711340 155711340 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:155711340G>T uc002tyv.1 + 3 1216 c.1021G>T c.(1021-1023)GAT>TAT p.D341Y KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 341 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CTTTAAAGTTGATTACTCCCA 0.423 30 131 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158140834 158140834 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:158140834A>T uc002tzg.2 + 2 1750 c.1495A>T c.(1495-1497)AGT>TGT p.S499C GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 499 Catalytic subdomain A.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 CCCAACCACCAGTGTCATCAT 0.468 28 148 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163031394 163031394 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:163031394G>T uc002ucd.2 - 22 2160 c.1952C>A c.(1951-1953)TCC>TAC p.S651Y FAP_uc010fpc.2_Missense_Mutation_p.S200Y|FAP_uc010zct.1_Missense_Mutation_p.S626Y|FAP_uc010fpd.2_Missense_Mutation_p.S130Y NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 651 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TTCCCAGCTGGAGACTGGAGC 0.388 26 82 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166451624 166451624 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:166451624C>A uc002udf.2 + 4 425 c.49C>A c.(49-51)CCC>ACC p.P17T CSRNP3_uc002udg.2_Missense_Mutation_p.P17T NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 17 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CGGCTCCTCACCCTGCTCCTC 0.478 36 133 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170135900 170135900 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:170135900G>A uc002ues.2 - 12 1760 c.1547C>T c.(1546-1548)GCC>GTC p.A516V LRP2_uc010zdf.1_Missense_Mutation_p.A516V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 516 LDL-receptor class B 2.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGGTCCACGGCAATTCCTCT 0.403 5 212 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179434250 179434250 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:179434250G>A uc010zfg.1 - 275 69129 c.68905C>T c.(68905-68907)CGT>TGT p.R22969C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16664C|TTN_uc010zfi.1_Missense_Mutation_p.R16597C|TTN_uc010zfj.1_Missense_Mutation_p.R16472C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23896 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGTAGGACGACCTTTTATA 0.393 9 72 --- --- --- --- PASS EPHA4 2043 broad.mit.edu 37 2 222428482 222428482 + Silent SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:222428482A>T uc002vmq.2 - 3 834 c.792T>A c.(790-792)GCT>GCA p.A264A EPHA4_uc002vmr.2_Silent_p.A264A|EPHA4_uc010zlm.1_Silent_p.A205A|EPHA4_uc010zln.1_Silent_p.A264A NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 264 Cys-rich.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CCTCATGCCCAGCGTTGCATA 0.488 42 93 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225670849 225670849 + Missense_Mutation SNP T G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:225670849T>G uc010fwz.1 - 34 4047 c.3808A>C c.(3808-3810)ATA>CTA p.I1270L DOCK10_uc002vob.2_Missense_Mutation_p.I1264L|DOCK10_uc002voa.2_5'Flank|DOCK10_uc002voc.2_Missense_Mutation_p.I133L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1270 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GTACCTGCTATGGAATTTAAA 0.338 7 38 --- --- --- --- PASS ALPP 250 broad.mit.edu 37 2 233244989 233244989 + Missense_Mutation SNP G T T rs141711512 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:233244989G>T uc002vsq.2 + 6 916 c.751G>T c.(751-753)GAC>TAC p.D251Y ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 251 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GACCAGGCTGGACGGGAAGAA 0.632 6 182 --- --- --- --- PASS ALPPL2 251 broad.mit.edu 37 2 233273070 233273070 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:233273070G>T uc002vss.3 + 6 795 c.742G>T c.(742-744)GAC>TAC p.D248Y NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 248 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GACCAGGCTGGACGGGAAGAA 0.622 8 83 --- --- --- --- PASS UGT1A6 54578 broad.mit.edu 37 2 234601653 234601653 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:234601653G>T uc002vuv.3 + 1 142 c.3G>T c.(1-3)ATG>ATT p.M1I UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.M1I NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 1 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) TTTCCAGGATGGCCTGCCTCC 0.463 37 124 --- --- --- --- PASS PDCD1 5133 broad.mit.edu 37 2 242794944 242794944 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr2:242794944G>T uc002wcq.3 - 2 333 c.265C>A c.(265-267)CCC>ACC p.P89T PDCD1_uc010fzs.2_Missense_Mutation_p.P20T|PDCD1_uc010fzt.2_Intron NM_005018 NP_005009 Q15116 PDCD1_HUMAN programmed cell death 1 precursor 89 Ig-like V-type.|Extracellular (Potential). apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity ovary(1) 1 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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219) TCCTGGCCGGGCTGGCTGCGG 0.642 5 42 --- --- --- --- PASS SLC6A6 6533 broad.mit.edu 37 3 14509682 14509682 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:14509682A>G uc010heg.2 + 16 1349 c.1058A>G c.(1057-1059)CAA>CGA p.Q353R SLC6A6_uc003byq.2_Missense_Mutation_p.Q353R|SLC6A6_uc003byr.2_Intron NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 353 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 TTCATGGCACAAGAGCAAGGG 0.522 OREG0015421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 115 --- --- --- --- PASS KAT2B 8850 broad.mit.edu 37 3 20136868 20136868 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:20136868G>T uc003cbq.2 + 3 990 c.544G>T c.(544-546)GAT>TAT p.D182Y NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 182 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGAAGATGCAGATACCAAACA 0.368 22 96 --- --- --- --- PASS MLH1 4292 broad.mit.edu 37 3 37070325 37070325 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:37070325G>T uc003cgl.2 + 13 1520 c.1460G>T c.(1459-1461)CGA>CTA p.R487L MLH1_uc011aye.1_Missense_Mutation_p.R246L|MLH1_uc011ayb.1_Missense_Mutation_p.R246L|MLH1_uc010hge.2_Missense_Mutation_p.R487L|MLH1_uc003cgn.3_Missense_Mutation_p.R246L|MLH1_uc011ayc.1_Missense_Mutation_p.R389L|MLH1_uc011ayd.1_Missense_Mutation_p.R246L|MLH1_uc003cgo.2_Missense_Mutation_p.R246L|MLH1_uc010hgi.1_Missense_Mutation_p.R129L|MLH1_uc010hgj.1_Missense_Mutation_p.R129L|MLH1_uc010hgk.2_Missense_Mutation_p.R129L|MLH1_uc010hgl.1_Missense_Mutation_p.R62L|MLH1_uc010hgn.2_Missense_Mutation_p.R129L|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Missense_Mutation_p.R129L NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 487 Interaction with EXO1. 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 GATGATTCCCGAAAGGAAATG 0.418 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 144 148 --- --- --- --- PASS DLEC1 9940 broad.mit.edu 37 3 38087137 38087137 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:38087137G>T uc003cho.1 + 2 536 c.515G>T c.(514-516)AGC>ATC p.S172I DLEC1_uc003chp.1_Missense_Mutation_p.S172I|DLEC1_uc010hgv.1_Missense_Mutation_p.S172I NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 172 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CGGGTCATGAGCCAGGCTGGA 0.418 17 41 --- --- --- --- PASS ACAA1 30 broad.mit.edu 37 3 38167686 38167686 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:38167686C>A uc003cht.2 - 9 1171 c.964G>T c.(964-966)GCC>TCC p.A322S ACAA1_uc003chu.2_Intron|ACAA1_uc010hgy.2_Missense_Mutation_p.A281S|ACAA1_uc010hgz.2_Missense_Mutation_p.A322S|ACAA1_uc003chv.2_Missense_Mutation_p.A170S NM_001607 NP_001598 P09110 THIK_HUMAN acetyl-Coenzyme A acyltransferase 1 isoform a 322 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) ATGGCATAGGCAGGTCCAATG 0.562 3 57 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38798291 38798291 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:38798291C>A uc003ciq.2 - 9 1164 c.1164G>T c.(1162-1164)CTG>CTT p.L388L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 388 Helical; Name=S6 of repeat I; (Potential).|I. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCAAGTTGACCAGGTAGAAAG 0.468 72 100 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38805035 38805035 + Nonsense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:38805035T>A uc003ciq.2 - 5 652 c.652A>T c.(652-654)AGA>TGA p.R218* NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 218 I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTAAGAACTCTGAATGTCCGC 0.393 75 94 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42728049 42728049 + Silent SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:42728049C>G uc003clv.1 + 1 1039 c.939C>G c.(937-939)GGC>GGG p.G313G NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 313 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) TGCGCTTCGGCATGTTCCTGC 0.567 65 99 --- --- --- --- PASS ANO10 55129 broad.mit.edu 37 3 43640090 43640090 + Nonsense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:43640090T>A uc003cmv.2 - 4 577 c.406A>T c.(406-408)AGA>TGA p.R136* ANO10_uc011azs.1_Nonsense_Mutation_p.R136*|ANO10_uc003cmw.2_Nonsense_Mutation_p.R70*|ANO10_uc010hil.2_Nonsense_Mutation_p.R136*|ANO10_uc011azt.1_Intron NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 136 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 TCTTTAGCTCTAAGATTTTCA 0.313 32 46 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111664201 111664201 + Silent SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:111664201A>G uc010hqa.2 + 9 2895 c.2484A>G c.(2482-2484)AAA>AAG p.K828K PHLDB2_uc003dyc.2_Silent_p.K812K|PHLDB2_uc003dyd.2_Silent_p.K785K|PHLDB2_uc003dyg.2_Silent_p.K828K|PHLDB2_uc003dyh.2_Silent_p.K785K|PHLDB2_uc003dyi.2_Silent_p.K414K NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 828 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 ATACTTTAAAAGAGGTAAGCT 0.348 70 95 --- --- --- --- PASS CD86 942 broad.mit.edu 37 3 121822396 121822396 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:121822396G>T uc003eet.2 + 3 218 c.102G>T c.(100-102)GAG>GAT p.E34D CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.E28D NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 34 Ig-like V-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ATTTCAATGAGACTGCAGACC 0.433 50 169 --- --- --- --- PASS H1FOO 132243 broad.mit.edu 37 3 129267964 129267964 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:129267964C>G uc003emu.2 + 3 504 c.499C>G c.(499-501)CCT>GCT p.P167A H1FOO_uc003emv.2_Missense_Mutation_p.P28A NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 167 Nuclear localization signal (Potential). meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding skin(1) 1 CAAGGAGGACCCTCCCAACGT 0.632 12 9 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130282165 130282165 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:130282165G>T uc010htl.2 + 2 349 c.318G>T c.(316-318)CAG>CAT p.Q106H NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 106 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GGTCCCTGCAGATAGGAAAGG 0.498 19 69 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136136806 136136806 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:136136806T>C uc003era.1 - 21 2409 c.2117A>G c.(2116-2118)GAT>GGT p.D706G STAG1_uc003erb.1_Missense_Mutation_p.D706G|STAG1_uc003erc.1_Missense_Mutation_p.D480G|STAG1_uc010hua.1_Missense_Mutation_p.D569G NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 706 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TTTTGTGAGATCATGTGCACT 0.348 11 123 --- --- --- --- PASS A4GNT 51146 broad.mit.edu 37 3 137843132 137843132 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:137843132C>T uc003ers.2 - 3 1199 c.997G>A c.(997-999)GGG>AGG p.G333R NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 333 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 CCCAGCTCCCCAGTCACTGAC 0.493 46 248 --- --- --- --- PASS NMNAT3 349565 broad.mit.edu 37 3 139297773 139297773 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:139297773G>T uc003etj.2 - 2 274 c.234C>A c.(232-234)ATC>ATA p.I78I NMNAT3_uc003etk.2_Silent_p.I41I|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Intron NM_178177 NP_835471 Q96T66 NMNA3_HUMAN nicotinamide mononucleotide adenylyltransferase 78 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity 0 GGTCCACCCGGATCCAGTCGG 0.587 11 55 --- --- --- --- PASS PTX3 5806 broad.mit.edu 37 3 157160709 157160709 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:157160709A>T uc003fbl.3 + 3 1230 c.1087A>T c.(1087-1089)ATT>TTT p.I363F VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 363 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCGGGGGAATATTGTTGGGTG 0.468 52 155 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164908179 164908179 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:164908179C>A uc003fej.3 - 2 884 c.440G>T c.(439-441)GGC>GTC p.G147V SLITRK3_uc003fek.2_Missense_Mutation_p.G147V NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 147 LRR 3.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ACTTTCCAAGCCAAGGAAGGT 0.373 HNSCC(40;0.11) 45 165 --- --- --- --- PASS GHSR 2693 broad.mit.edu 37 3 172166131 172166131 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:172166131G>A uc003fib.1 - 1 73 c.73C>T c.(73-75)CCC>TCC p.P25S GHSR_uc011bpv.1_Missense_Mutation_p.P25S NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 25 Extracellular (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCGTTGCCGGGGGAAGCATCC 0.682 9 46 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173993318 173993318 + Splice_Site SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:173993318G>T uc003fio.1 + 5 1282 c.859_splice c.e5+1 p.G287_splice NLGN1_uc010hww.1_Splice_Site_p.G327_splice|NLGN1_uc003fip.1_Splice_Site_p.G287_splice NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TCAACCAAAGGTATTATGCAA 0.413 66 87 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173998935 173998935 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:173998935G>T uc003fio.1 + 7 2737 c.2314G>T c.(2314-2316)GAT>TAT p.D772Y NLGN1_uc003fip.1_Missense_Mutation_p.D772Y NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 789 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTCACCTGATGATGTTCCCTT 0.453 95 211 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184297702 184297702 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:184297702G>T uc003foz.2 + 11 2589 c.2152G>T c.(2152-2154)GCC>TCC p.A718S NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 718 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGAAAACTGCGCCCTGGACTC 0.577 60 175 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192516749 192516749 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:192516749C>T uc011bsp.1 - 2 1223 c.902G>A c.(901-903)TGC>TAC p.C301Y NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 301 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GCTGGAGATGCACTTCTTCAA 0.542 21 81 --- --- --- --- PASS OPA1 4976 broad.mit.edu 37 3 193372726 193372726 + Silent SNP G T T rs138114609 by1000genomes TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:193372726G>T uc003ftm.2 + 20 2157 c.1923G>T c.(1921-1923)GCG>GCT p.A641A OPA1_uc003ftg.2_Silent_p.A696A|OPA1_uc003fth.2_Silent_p.A660A|OPA1_uc003fti.2_Silent_p.A678A|OPA1_uc003ftj.2_Silent_p.A659A|OPA1_uc003ftk.2_Silent_p.A642A|OPA1_uc003ftl.2_Silent_p.A623A|OPA1_uc003ftn.2_Silent_p.A605A NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 641 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TTCCAGCTGCGCAGACCATGA 0.373 20 117 --- --- --- --- PASS LSG1 55341 broad.mit.edu 37 3 194373764 194373764 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:194373764C>G uc003fui.2 - 8 1182 c.867G>C c.(865-867)AGG>AGC p.R289S NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 289 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) AAGGAGAATCCCTAGCTGGGA 0.478 35 223 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195481244 195481244 + Splice_Site SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:195481244C>A uc011bto.1 - 20 15245 c.14785_splice c.e20-1 p.V4929_splice MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Splice_Site_p.V655_splice|MUC4_uc003fva.2_Splice_Site_p.V537_splice|MUC4_uc003fvb.2_Splice_Site_p.V573_splice|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Splice_Site_p.V573_splice|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Splice_Site_p.V537_splice|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Splice_Site_p.V621_splice|MUC4_uc011bti.1_Splice_Site_p.V621_splice|MUC4_uc011btj.1_Splice_Site_p.V798_splice|MUC4_uc011btk.1_Splice_Site_p.V537_splice|MUC4_uc011btl.1_Splice_Site_p.V566_splice|MUC4_uc011btm.1_Splice_Site_p.V746_splice|MUC4_uc011btn.1_Splice_Site_p.V537_splice|MUC4_uc003fvo.2_Splice_Site_p.V821_splice|MUC4_uc003fvp.2_Splice_Site_p.V770_splice NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGCCAGCCACCTGGAGGAGGG 0.647 11 70 --- --- --- --- PASS IQCG 84223 broad.mit.edu 37 3 197640840 197640840 + Missense_Mutation SNP C A A rs141338847 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr3:197640840C>A uc003fyo.2 - 7 946 c.800G>T c.(799-801)CGC>CTC p.R267L IQCG_uc003fyn.2_Missense_Mutation_p.R169L|IQCG_uc003fyp.2_Missense_Mutation_p.R267L|IQCG_uc003fyq.3_Missense_Mutation_p.R267L|IQCG_uc003fym.2_5'Flank NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 267 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TTTCATGTAGCGATTCTCCAA 0.443 167 424 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16504392 16504392 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr4:16504392G>T uc003goz.2 - 8 1312 c.996C>A c.(994-996)AAC>AAA p.N332K LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.N330K|LDB2_uc011bxh.1_Missense_Mutation_p.N304K|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.N207K|LDB2_uc011bxi.1_3'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 332 LIM-binding domain (LID) (By similarity). LIM domain binding|transcription cofactor activity 0 CGTCCATGCCGTTGGCCGCAT 0.522 118 139 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47809040 47809040 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr4:47809040T>C uc003gxm.2 - 2 181 c.88A>G c.(88-90)ATG>GTG p.M30V CORIN_uc011bzg.1_Missense_Mutation_p.M30V|CORIN_uc011bzh.1_Missense_Mutation_p.M30V|CORIN_uc011bzi.1_Missense_Mutation_p.M30V|CORIN_uc003gxn.3_Missense_Mutation_p.M30V NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 30 Cytoplasmic (Potential). 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 CCATTGCCCATGTTATTGTCA 0.433 3 41 --- --- --- --- PASS UGT2B11 10720 broad.mit.edu 37 4 70078389 70078389 + Missense_Mutation SNP T G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr4:70078389T>G uc003heh.2 - 2 781 c.772A>C c.(772-774)ATG>CTG p.M258L uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 258 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GAGTTTCGCATAAGCCATATG 0.393 12 213 --- --- --- --- PASS MEPE 56955 broad.mit.edu 37 4 88766576 88766576 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr4:88766576T>C uc003hqy.2 + 4 595 c.556T>C c.(556-558)TAT>CAT p.Y186H MEPE_uc010ikn.2_Missense_Mutation_p.Y73H NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 186 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AAGTATGAATTATGCTAAAGC 0.408 49 62 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96171649 96171649 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr4:96171649A>T uc003htp.1 - 5 918 c.764T>A c.(763-765)GTC>GAC p.V255D UNC5C_uc010ilc.1_Missense_Mutation_p.V255D|UNC5C_uc003htq.2_Missense_Mutation_p.V255D NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 255 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ATAGACTATGACAGTGGCAGT 0.433 44 52 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123264619 123264619 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr4:123264619C>T uc003ieh.2 + 71 12452 c.12407C>T c.(12406-12408)TCA>TTA p.S4136L KIAA1109_uc003iem.2_Missense_Mutation_p.S492L|KIAA1109_uc003ien.2_Missense_Mutation_p.S70L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4136 Ser-rich. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGTAGTCAGTCAGACCTGACC 0.438 64 64 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10403543 10403543 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:10403543G>C uc003jet.1 + 15 1405 c.1222G>C c.(1222-1224)GAT>CAT p.D408H MARCH6_uc011cmu.1_Missense_Mutation_p.D360H|MARCH6_uc003jeu.1_Missense_Mutation_p.D106H|MARCH6_uc011cmv.1_Missense_Mutation_p.D303H NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 408 Extracellular (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TACTCTGAAAGATCGAGAACT 0.423 9 203 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14485270 14485270 + Missense_Mutation SNP T G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:14485270T>G uc003jff.2 + 47 6756 c.6750T>G c.(6748-6750)ATT>ATG p.I2250M TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.I1899M NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2250 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AGACCTTCATTTTGCATTCAT 0.408 67 86 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45396618 45396618 + Silent SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:45396618A>G uc003jok.2 - 4 1231 c.1206T>C c.(1204-1206)TCT>TCC p.S402S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 402 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCCGCCTCGAAGAATCCAGAG 0.453 21 24 --- --- --- --- PASS ITGA2 3673 broad.mit.edu 37 5 52358644 52358644 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:52358644G>C uc003joy.2 + 13 1630 c.1487G>C c.(1486-1488)TGT>TCT p.C496S ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.C420S|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 496 FG-GAP 5.|Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AGTGTGCTGTGTTCAGTTGAT 0.378 94 141 --- --- --- --- PASS TMEM161B 153396 broad.mit.edu 37 5 87492090 87492090 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:87492090C>G uc003kjc.2 - 12 1527 c.1402G>C c.(1402-1404)GCT>CCT p.A468P TMEM161B_uc011cty.1_Missense_Mutation_p.A457P|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A259P NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 468 Helical; (Potential). 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) AAGAGGCAAGCAGCAATCCAC 0.388 24 39 --- --- --- --- PASS WNT8A 7478 broad.mit.edu 37 5 137426719 137426719 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:137426719G>C uc003lcd.1 + 6 1018 c.1013G>C c.(1012-1014)CGC>CCC p.R338P BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Intron|WNT8A_uc011cyk.1_Missense_Mutation_p.R356P NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 338 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TACTGCGCACGCTCCCCAGGC 0.507 34 72 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140724612 140724612 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:140724612C>G uc003ljm.1 + 1 1012 c.1012C>G c.(1012-1014)CTG>GTG p.L338V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L98V|PCDHGA3_uc011dap.1_Missense_Mutation_p.L338V NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 338 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCACGGTTCTGGATGTGAA 0.423 49 65 --- --- --- --- PASS TCOF1 6949 broad.mit.edu 37 5 149754232 149754232 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:149754232A>T uc003lry.2 + 9 1244 c.1136A>T c.(1135-1137)AAG>ATG p.K379M TCOF1_uc003lrw.2_Missense_Mutation_p.K379M|TCOF1_uc011dch.1_Missense_Mutation_p.K379M|TCOF1_uc003lrz.2_Missense_Mutation_p.K379M|TCOF1_uc003lrx.2_Missense_Mutation_p.K302M|TCOF1_uc003lsa.2_Missense_Mutation_p.K302M|TCOF1_uc011dci.1_5'Flank NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 379 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCCTGCCAAGGAGTCCCCC 0.652 10 32 --- --- --- --- PASS RARS 5917 broad.mit.edu 37 5 167920938 167920938 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr5:167920938A>G uc003lzx.2 + 4 450 c.409A>G c.(409-411)ATT>GTT p.I137V RARS_uc011deo.1_Intron NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 137 REI -> GEF (in Ref. 1; AAB35627). arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TCCAAGAGAAATTGCTGAAAA 0.338 27 42 --- --- --- --- PASS HIST1H4C 8364 broad.mit.edu 37 6 26104417 26104417 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:26104417C>T uc003ngi.2 + 1 242 c.242C>T c.(241-243)ACT>ATT p.T81I NM_003542 NP_003533 P62805 H4_HUMAN histone cluster 1, H4c 81 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 AAGCGCAAAACTGTCACAGCC 0.502 79 45 --- --- --- --- PASS OR2W1 26692 broad.mit.edu 37 6 29012897 29012897 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:29012897T>C uc003nlw.2 - 1 56 c.56A>G c.(55-57)AAC>AGC p.N19S NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TTTTGGATGGTTAGAGAAGCC 0.373 62 224 --- --- --- --- PASS OOEP 441161 broad.mit.edu 37 6 74079068 74079068 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:74079068G>T uc003pgu.3 - 2 231 c.231C>A c.(229-231)AGC>AGA p.S77R OOEP_uc003pgv.3_Missense_Mutation_p.S22R NM_001080507 NP_001073976 A6NGQ2 OOEP_HUMAN oocyte expressed protein homolog 77 KH; atypical. cytoplasm 0 GCAGGGCCTGGCTCGTCCACT 0.542 15 10 --- --- --- --- PASS KIAA0776 23376 broad.mit.edu 37 6 96986576 96986576 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:96986576A>T uc003por.2 + 10 1096 c.1048A>T c.(1048-1050)AGC>TGC p.S350C KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 350 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) GAGGGCATTCAGCAAACAGGC 0.398 77 48 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101075504 101075504 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:101075504C>A uc003pqk.2 - 29 4933 c.4604G>T c.(4603-4605)TGT>TTT p.C1535F NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1535 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) CATACGAGGACAGTAATGTTG 0.403 6 126 --- --- --- --- PASS SOBP 55084 broad.mit.edu 37 6 107824935 107824935 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:107824935G>C uc003prx.2 + 2 675 c.171G>C c.(169-171)GAG>GAC p.E57D SOBP_uc003prw.1_Missense_Mutation_p.E57D NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 57 metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) AAGATGGTGAGGATATTGAAT 0.408 104 70 --- --- --- --- PASS SMPD2 6610 broad.mit.edu 37 6 109763467 109763467 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:109763467C>G uc003pti.2 + 5 767 c.373C>G c.(373-375)CTA>GTA p.L125V PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 125 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) GGTGCTCCATCTAAGTGGCAT 0.572 48 34 --- --- --- --- PASS MED23 9439 broad.mit.edu 37 6 131910675 131910675 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:131910675T>C uc003qcs.1 - 28 4043 c.3869A>G c.(3868-3870)TAC>TGC p.Y1290C MED23_uc003qcq.2_Missense_Mutation_p.Y1296C|MED23_uc003qcr.1_Missense_Mutation_p.Y145C NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 1290 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GGGATCCATGTAATTTAAATG 0.328 57 123 --- --- --- --- PASS MYB 4602 broad.mit.edu 37 6 135507133 135507133 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:135507133G>C uc003qfc.2 + 2 315 c.116G>C c.(115-117)GGG>GCG p.G39A MYB_uc003qfh.2_Missense_Mutation_p.G39A|MYB_uc003qfi.2_Missense_Mutation_p.G39A|MYB_uc010kgi.2_Missense_Mutation_p.G39A|MYB_uc003qfq.2_Missense_Mutation_p.G39A|MYB_uc010kgj.2_Missense_Mutation_p.G39A|MYB_uc003qfo.2_Missense_Mutation_p.G39A|MYB_uc003qfu.2_Missense_Mutation_p.G39A|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G39A|MYB_uc003qgd.1_5'Flank NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 39 HTH myb-type 1. blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CGTCACTTGGGGAAAACAAGG 0.398 T NFIB adenoid cystic carcinoma 6 286 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597502 136597502 + Silent SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:136597502T>C uc003qgx.1 - 5 1414 c.1161A>G c.(1159-1161)AAA>AAG p.K387K BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.K385K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K385K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 387 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCCAGACTCTTTATCACTGA 0.438 102 815 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152673301 152673301 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:152673301C>A uc010kiw.2 - 70 12043 c.11441G>T c.(11440-11442)GGT>GTT p.G3814V SYNE1_uc003qot.3_Missense_Mutation_p.G3799V|SYNE1_uc003qou.3_Missense_Mutation_p.G3814V|SYNE1_uc010kja.1_Missense_Mutation_p.G519V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3814 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAAATGAAGACCTTTTTCCAG 0.438 HNSCC(10;0.0054) 234 353 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152762406 152762406 + Splice_Site SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:152762406C>A uc010kiw.2 - 32 4611 c.4009_splice c.e32-1 p.V1337_splice SYNE1_uc003qot.3_Splice_Site_p.V1344_splice|SYNE1_uc003qou.3_Splice_Site_p.V1337_splice|SYNE1_uc010kjb.1_Splice_Site_p.V1320_splice|SYNE1_uc003qow.2_Splice_Site_p.V632_splice|SYNE1_uc003qox.1_Splice_Site_p.V853_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTAATGTGACCTAAATTTGAA 0.318 HNSCC(10;0.0054) 10 42 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155761239 155761239 + Silent SNP T G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:155761239T>G uc003qqm.2 - 6 622 c.519A>C c.(517-519)GCA>GCC p.A173A NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 173 Ferric oxidoreductase.|Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGGTGACGCCTGCTATTGTCC 0.368 73 117 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157521979 157521979 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr6:157521979G>A uc003qqn.2 + 18 4349 c.4197G>A c.(4195-4197)AGG>AGA p.R1399R ARID1B_uc003qqo.2_Silent_p.R1359R|ARID1B_uc003qqp.2_Silent_p.R1346R NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1404 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGGACCGCAGGCCCATCCAGG 0.637 38 96 --- --- --- --- PASS VPS41 27072 broad.mit.edu 37 7 38785213 38785213 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:38785213C>A uc003tgy.2 - 23 1953 c.1927G>T c.(1927-1929)GCT>TCT p.A643S VPS41_uc003tgz.2_Missense_Mutation_p.A618S|VPS41_uc010kxn.2_Missense_Mutation_p.A554S|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 643 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 ATCTCAAGAGCCTTCAATTAA 0.333 66 97 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44571705 44571705 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:44571705G>A uc003tlb.2 - 9 2577 c.2521C>T c.(2521-2523)CTG>TTG p.L841L NPC1L1_uc003tlc.2_Silent_p.L841L|NPC1L1_uc011kbw.1_Silent_p.L841L NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 841 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) ATCCAGTGCAGCAGGAAGGGG 0.642 59 52 --- --- --- --- PASS UPP1 7378 broad.mit.edu 37 7 48147045 48147045 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:48147045G>T uc003toj.2 + 9 1263 c.734G>T c.(733-735)CGC>CTC p.R245L UPP1_uc003tok.2_Missense_Mutation_p.R245L|UPP1_uc003tol.2_Missense_Mutation_p.R245L|UPP1_uc011kch.1_Missense_Mutation_p.R38L|UPP1_uc003ton.2_Missense_Mutation_p.R108L|UPP1_uc003too.2_Missense_Mutation_p.R108L NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 245 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 GCCGGCGTCCGCAATATCGAG 0.632 29 29 --- --- --- --- PASS PPP1R9A 55607 broad.mit.edu 37 7 94540121 94540121 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:94540121G>T uc003unp.2 + 2 978 c.696G>T c.(694-696)GGG>GGT p.G232G PPP1R9A_uc010lfj.2_Silent_p.G232G|PPP1R9A_uc011kif.1_Silent_p.G232G|PPP1R9A_uc003unq.2_Silent_p.G232G|PPP1R9A_uc011kig.1_Silent_p.G232G NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 232 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAGTGACTGGGCATTATCCCT 0.433 HNSCC(28;0.073) 40 31 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98524818 98524818 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:98524818A>G uc003upp.2 + 23 3213 c.3004A>G c.(3004-3006)ATC>GTC p.I1002V TRRAP_uc011kis.1_Missense_Mutation_p.I1002V|TRRAP_uc003upr.2_Missense_Mutation_p.I694V NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1002 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCCAATGTTATCATCTCACA 0.502 7 110 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508783 106508783 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:106508783G>T uc003vdv.3 + 2 862 c.777G>T c.(775-777)ATG>ATT p.M259I PIK3CG_uc003vdu.2_Missense_Mutation_p.M259I|PIK3CG_uc003vdw.2_Missense_Mutation_p.M259I NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 259 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AATCTCTGATGGATATTCCCG 0.562 100 59 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106509060 106509060 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:106509060G>A uc003vdv.3 + 2 1139 c.1054G>A c.(1054-1056)GTG>ATG p.V352M PIK3CG_uc003vdu.2_Missense_Mutation_p.V352M|PIK3CG_uc003vdw.2_Missense_Mutation_p.V352M NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 352 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TGTGTTCACCGTGTCCCTGTG 0.577 5 184 --- --- --- --- PASS ST7 7982 broad.mit.edu 37 7 116759660 116759660 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:116759660G>A uc003vin.2 + 3 494 c.280G>A c.(280-282)GAA>AAA p.E94K ST7_uc011knl.1_Missense_Mutation_p.E94K|ST7_uc003vio.2_Missense_Mutation_p.E94K|ST7_uc003viq.2_Missense_Mutation_p.E48K|ST7_uc011knm.1_Missense_Mutation_p.E51K|ST7_uc003vir.2_Missense_Mutation_p.E42K|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.E42K|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 94 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TTCATTCATTGAACAAGTCTC 0.408 99 167 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126410117 126410117 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:126410117G>T uc003vlr.2 - 6 1470 c.1159C>A c.(1159-1161)CTG>ATG p.L387M GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L387M|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.L108M NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 387 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATTCGCTCCAGCCCTGCAAAA 0.378 HNSCC(24;0.065) 21 46 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 132192291 132192291 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:132192291C>A uc003vra.3 - 2 1391 c.1162G>T c.(1162-1164)GTG>TTG p.V388L PLXNA4_uc003vrc.2_Missense_Mutation_p.V388L|PLXNA4_uc003vrb.2_Missense_Mutation_p.V388L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 388 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 ATGTCCTTCACCTTGAGCCAG 0.602 29 81 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 132192292 132192292 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:132192292C>A uc003vra.3 - 2 1390 c.1161G>T c.(1159-1161)AAG>AAT p.K387N PLXNA4_uc003vrc.2_Missense_Mutation_p.K387N|PLXNA4_uc003vrb.2_Missense_Mutation_p.K387N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 387 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 TGTCCTTCACCTTGAGCCAGG 0.602 30 79 --- --- --- --- PASS TAS2R41 259287 broad.mit.edu 37 7 143175315 143175315 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:143175315C>A uc003wdc.1 + 1 350 c.350C>A c.(349-351)TCC>TAC p.S117Y uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 117 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) ATCACACACTCCACCTTCCTG 0.522 53 73 --- --- --- --- PASS NOBOX 135935 broad.mit.edu 37 7 144097350 144097350 + Silent SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:144097350A>G uc011kue.1 - 5 900 c.900T>C c.(898-900)GAT>GAC p.D300D NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 300 Homeobox. cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) CTCGGCGTTTATCACTGTCAG 0.562 46 77 --- --- --- --- PASS GIMAP5 55340 broad.mit.edu 37 7 150439822 150439822 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr7:150439822C>A uc003whr.1 + 3 947 c.595C>A c.(595-597)CAG>AAG p.Q199K GIMAP5_uc010lpu.2_Missense_Mutation_p.Q57K NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 199 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGAGGCAGCAGCAGGCAGA 0.587 50 79 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 15967718 15967718 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:15967718G>T uc003wwz.2 - 10 1430 c.1232C>A c.(1231-1233)CCA>CAA p.P411Q MSR1_uc010lsu.2_Missense_Mutation_p.P429Q|MSR1_uc003wxa.2_Missense_Mutation_p.P348Q NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 411 SRCR.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CAGCCATATTGGACCAGTACC 0.373 41 95 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35647908 35647908 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:35647908C>A uc003xjr.1 + 17 3017 c.2689C>A c.(2689-2691)CCA>ACA p.P897T UNC5D_uc003xjs.1_Missense_Mutation_p.P892T|UNC5D_uc003xju.1_Missense_Mutation_p.P473T NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 897 Death.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACAAAGTAGCCCATCTGCTGT 0.428 35 403 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48746885 48746885 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:48746885G>A uc003xqi.2 - 60 8081 c.8024C>T c.(8023-8025)TCT>TTT p.S2675F PRKDC_uc003xqj.2_Missense_Mutation_p.S2675F|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2675 KIP-binding. 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) CAAGGAGTCAGATGAGGGACT 0.537 NHEJ 126 299 --- --- --- --- PASS CYP7B1 9420 broad.mit.edu 37 8 65517287 65517287 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:65517287G>T uc003xvj.2 - 5 1389 c.1185C>A c.(1183-1185)ATC>ATA p.I395I NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 395 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) CTGGAGGAAAGATGGCTACCA 0.463 49 141 --- --- --- --- PASS CYP7B1 9420 broad.mit.edu 37 8 65528652 65528652 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:65528652G>A uc003xvj.2 - 3 650 c.446C>T c.(445-447)TCT>TTT p.S149F NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 149 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TATGTCCAAAGATTTGCCTTG 0.368 77 127 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77617884 77617884 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:77617884G>A uc003yav.2 + 2 1948 c.1561G>A c.(1561-1563)GGT>AGT p.G521S ZFHX4_uc003yat.1_Missense_Mutation_p.G521S|ZFHX4_uc003yau.1_Missense_Mutation_p.G521S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G521S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 521 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) TATTGAAAAGGGTACCTCGTC 0.418 HNSCC(33;0.089) 48 54 --- --- --- --- PASS PSKH2 85481 broad.mit.edu 37 8 87081732 87081732 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:87081732G>T uc011lfy.1 - 1 120 c.120C>A c.(118-120)GCC>GCA p.A40A NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 40 ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) GCGCCGCCTGGGCCGCCGCCT 0.706 4 5 --- --- --- --- PASS POP1 10940 broad.mit.edu 37 8 99148776 99148776 + Missense_Mutation SNP G T T rs150874165 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:99148776G>T uc003yij.3 + 8 1178 c.1078G>T c.(1078-1080)GCT>TCT p.A360S POP1_uc011lgv.1_Missense_Mutation_p.A360S|POP1_uc003yik.2_Missense_Mutation_p.A360S NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 360 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGTCTGCATCGCTGACCCACT 0.383 136 175 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110476998 110476998 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:110476998C>A uc003yne.2 + 49 8041 c.7937C>A c.(7936-7938)GCA>GAA p.A2646E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2646 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTGCACCTGCAATATTTAAC 0.408 HNSCC(38;0.096) 141 418 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116617106 116617106 + Nonsense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:116617106C>A uc003ynz.2 - 3 1510 c.1051G>T c.(1051-1053)GAA>TAA p.E351* TRPS1_uc011lhy.1_Nonsense_Mutation_p.E355*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E364*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E351* NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 351 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AAATGTTGTTCTAATTCGGTG 0.423 Langer-Giedion_syndrome 147 193 --- --- --- --- PASS C8orf85 441376 broad.mit.edu 37 8 117950629 117950629 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:117950629C>T uc003yof.2 + 1 166 c.147C>T c.(145-147)GCC>GCT p.A49A NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 49 0 AGGAGGAGGCCCTCGCCGCCA 0.687 11 13 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124349885 124349885 + Nonsense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:124349885T>A uc003yqh.3 - 21 3139 c.3031A>T c.(3031-3033)AAG>TAG p.K1011* ATAD2_uc011lii.1_Nonsense_Mutation_p.K802*|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1011 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCAACAGGCTTAGTAAACACT 0.358 45 160 --- --- --- --- PASS LINGO2 158038 broad.mit.edu 37 9 27950441 27950441 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:27950441A>G uc003zqu.1 - 2 423 c.229T>C c.(229-231)TTC>CTC p.F77L LINGO2_uc010mjf.1_Missense_Mutation_p.F77L|LINGO2_uc003zqv.1_Missense_Mutation_p.F77L NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 77 LRR 1.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TATGATATGAATTCTTCAGGG 0.448 136 256 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34514727 34514727 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:34514727C>A uc003zum.2 + 18 2001 c.1808C>A c.(1807-1809)ACA>AAA p.T603K NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 603 WD 4. cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GCAGTCACCACAGATGGGAAG 0.562 Kartagener_syndrome 7 121 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90502329 90502329 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:90502329T>C uc004app.3 + 4 2962 c.2927T>C c.(2926-2928)GTC>GCC p.V976A NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 976 integral to membrane ovary(3) 3 AGCAGGACTGTCCTGGAATCC 0.587 13 90 --- --- --- --- PASS ROR2 4920 broad.mit.edu 37 9 94486343 94486343 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:94486343C>T uc004arj.1 - 9 2632 c.2433G>A c.(2431-2433)ATG>ATA p.M811I ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 811 Cytoplasmic (Potential).|Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GCGGGGGCACCATGGGTCTGA 0.657 33 56 --- --- --- --- PASS KIAA1529 57653 broad.mit.edu 37 9 100124029 100124029 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:100124029G>A uc011lut.1 + 39 4827 c.4054G>A c.(4054-4056)GAG>AAG p.E1352K KIAA1529_uc004axe.1_Missense_Mutation_p.E1184K|KIAA1529_uc004axg.1_Missense_Mutation_p.E1213K|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E369K NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GAAGGACCAGGAGGAAGACAG 0.602 26 35 --- --- --- --- PASS LAMC3 10319 broad.mit.edu 37 9 133948095 133948095 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:133948095T>A uc004caa.1 + 19 3388 c.3290T>A c.(3289-3291)CTG>CAG p.L1097Q NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1097 Domain II and I.|Potential. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTGCAGAGGCTGAACAAGGGT 0.652 3 14 --- --- --- --- PASS OLFM1 10439 broad.mit.edu 37 9 137982073 137982073 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:137982073G>T uc010nar.2 + 2 499 c.183G>T c.(181-183)CAG>CAT p.Q61H OLFM1_uc004cfl.3_Missense_Mutation_p.Q43H|OLFM1_uc004cfk.3_Missense_Mutation_p.Q43H|OLFM1_uc004cfm.3_Missense_Mutation_p.Q61H NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 61 nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) AGAGCTGGCAGGTGTACAGCT 0.607 12 25 --- --- --- --- PASS ARRDC1 92714 broad.mit.edu 37 9 140509312 140509312 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr9:140509312C>T uc004cns.2 + 7 1171 c.1097C>T c.(1096-1098)GCC>GTC p.A366V ARRDC1_uc004cnt.2_Missense_Mutation_p.A241V|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.A346V|ARRDC1_uc004cnw.2_Missense_Mutation_p.A241V|ARRDC1_uc004cnp.1_Missense_Mutation_p.A366V|ARRDC1_uc004cnq.1_Missense_Mutation_p.A348V|ARRDC1_uc011mfb.1_Missense_Mutation_p.A241V|ARRDC1_uc004cnx.1_Missense_Mutation_p.A241V|ARRDC1_uc004cny.2_RNA NM_152285 NP_689498 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 366 Pro-rich. 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) GGCAGCCCTGCCTCACACCCG 0.652 24 75 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7262489 7262489 + Missense_Mutation SNP C A A rs144518591 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:7262489C>A uc009xio.1 - 11 1305 c.1214G>T c.(1213-1215)AGT>ATT p.S405I SFMBT2_uc001ijn.1_Missense_Mutation_p.S405I|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 405 MBT 4. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GAAACCTCGACTGAATGATGT 0.502 47 46 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16942801 16942801 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:16942801C>G uc001ioo.2 - 53 8285 c.8233G>C c.(8233-8235)GAC>CAC p.D2745H CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.D101H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2745 CUB 20. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTGACAGAGTCCCAAGCACAA 0.433 30 38 --- --- --- --- PASS CUL2 8453 broad.mit.edu 37 10 35333790 35333790 + Silent SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:35333790A>C uc001ixv.2 - 7 723 c.513T>G c.(511-513)CGT>CGG p.R171R CUL2_uc009xma.2_Silent_p.R40R|CUL2_uc010qer.1_Silent_p.R190R|CUL2_uc001ixw.2_Silent_p.R171R|CUL2_uc010qes.1_Silent_p.R108R NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 171 cell cycle arrest|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 cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 CTTCTCCACCACGATCACTAA 0.333 44 59 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37422844 37422844 + Nonsense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:37422844C>A uc001iza.1 + 5 549 c.450C>A c.(448-450)TGC>TGA p.C150* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 206 ANK 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GTTATTTTAGCACAGCCCTCA 0.358 81 135 --- --- --- --- PASS GDF10 2662 broad.mit.edu 37 10 48429340 48429340 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:48429340G>C uc001jfb.2 - 2 1002 c.546C>G c.(544-546)GCC>GCG p.A182A GDF10_uc009xnp.2_Silent_p.A181A|GDF10_uc009xnq.1_Silent_p.A182A NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 182 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GCCCCTGTGTGGCCGTGTTCT 0.736 8 6 --- --- --- --- PASS GDF10 2662 broad.mit.edu 37 10 48429341 48429341 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:48429341G>T uc001jfb.2 - 2 1001 c.545C>A c.(544-546)GCC>GAC p.A182D GDF10_uc009xnp.2_Missense_Mutation_p.A181D|GDF10_uc009xnq.1_Missense_Mutation_p.A182D NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 182 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CCCCTGTGTGGCCGTGTTCTG 0.736 8 6 --- --- --- --- PASS MSMB 4477 broad.mit.edu 37 10 51556783 51556783 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:51556783A>G uc001jiq.2 + 3 174 c.142A>G c.(142-144)ATA>GTA p.I48V PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Intron NM_002443 NP_002434 P08118 MSMB_HUMAN beta-microseminoprotein isoform a precursor 48 extracellular space|nucleus ovary(2) 2 CAAACACCCAATAAACTCGGA 0.433 Hereditary_Prostate_Cancer 28 36 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55568916 55568916 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:55568916A>T uc010qhs.1 - 37 5304 c.4909T>A c.(4909-4911)TCT>ACT p.S1637T PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.S1630T|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCCTCCTCAGAGGGTGTCTCT 0.463 HNSCC(58;0.16) 45 50 --- --- --- --- PASS KCNMA1 3778 broad.mit.edu 37 10 78713682 78713682 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:78713682C>A uc001jxn.2 - 21 2538 c.2361G>T c.(2359-2361)AGG>AGT p.R787S KCNMA1_uc001jxj.2_Missense_Mutation_p.R733S|KCNMA1_uc001jxk.1_Missense_Mutation_p.R405S|KCNMA1_uc009xrt.1_Missense_Mutation_p.R578S|KCNMA1_uc001jxl.1_Missense_Mutation_p.R412S|KCNMA1_uc001jxo.2_Missense_Mutation_p.R729S|KCNMA1_uc001jxm.2_Missense_Mutation_p.R729S|KCNMA1_uc001jxq.2_Missense_Mutation_p.R732S NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 787 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGGGGTCATGCCTGGGAAGAA 0.428 28 19 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89711893 89711893 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:89711893C>A uc001kfb.2 + 7 1542 c.511C>A c.(511-513)CAG>AAG p.Q171K NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 171 Phosphatase tensin-type. Q->A,E: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q171*(9)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27_N212>Y(2)|p.Q171P(2)|p.Y27fs*1(2)|p.Q171E(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.Q171H(1)|p.S170fs*8(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATTCCCAGTCAGAGGCGCTA 0.353 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 117 131 --- --- --- --- PASS CYP17A1 1586 broad.mit.edu 37 10 104590602 104590602 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:104590602T>A uc001kwg.2 - 8 1556 c.1384A>T c.(1384-1386)AGG>TGG p.R462W C10orf26_uc009xxg.1_RNA NM_000102 NP_000093 P05093 CP17A_HUMAN cytochrome P450, family 17 462 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) AGGTCGAACCTCTGCAGCAGC 0.567 6 9 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115412757 115412757 + Silent SNP G A A rs138386465 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:115412757G>A uc001laj.2 - 6 671 c.507C>T c.(505-507)AGC>AGT p.S169S NRAP_uc001lak.2_Silent_p.S169S|NRAP_uc001lal.3_Silent_p.S169S NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 169 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding p.S169R(1) ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGGCTGGAAAGCTCCCCTTGC 0.473 36 137 --- --- --- --- PASS EBF3 253738 broad.mit.edu 37 10 131757215 131757215 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:131757215G>C uc001lki.1 - 5 527 c.468C>G c.(466-468)ACC>ACG p.T156T NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 156 C5-type (Potential). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGATCTCGTGGGTCAGCAGCA 0.572 7 47 --- --- --- --- PASS EBF3 253738 broad.mit.edu 37 10 131761760 131761760 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr10:131761760G>A uc001lki.1 - 2 221 c.162C>T c.(160-162)TTC>TTT p.F54F EBF3_uc010qur.1_Silent_p.F40F NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 54 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCTGCTTCTCGAAGTGCGCCC 0.517 35 17 --- --- --- --- PASS TH 7054 broad.mit.edu 37 11 2190926 2190926 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:2190926C>A uc001lvq.2 - 3 378 c.359G>T c.(358-360)AGG>ATG p.R120M TH_uc001lvp.2_Missense_Mutation_p.R116M|TH_uc001lvr.2_Missense_Mutation_p.R89M|TH_uc010qxj.1_Missense_Mutation_p.R93M|TH_uc001lvs.2_Missense_Mutation_p.R89M|TH_uc001lvt.2_Missense_Mutation_p.R93M|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 120 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CTTGGTGGCCCTCGGGGAGAA 0.672 21 52 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4903764 4903764 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:4903764A>T uc010qyp.1 + 1 716 c.716A>T c.(715-717)GAC>GTC p.D239V NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGGCACTGACGTATTGTTT 0.443 58 73 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5968758 5968758 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:5968758A>T uc010qzt.1 + 1 182 c.182A>T c.(181-183)CAG>CTG p.Q61L NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCTGCACCAGCCCCTGTAC 0.612 71 102 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22257761 22257761 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:22257761G>A uc001mqi.2 + 8 1018 c.701G>A c.(700-702)AGG>AAG p.R234K ANO5_uc001mqj.2_Missense_Mutation_p.R233K NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 234 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GGGAAGAAAAGGTTTGGGATT 0.373 33 104 --- --- --- --- PASS ACCSL 390110 broad.mit.edu 37 11 44072153 44072153 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:44072153G>A uc001mxw.1 + 3 672 c.616G>A c.(616-618)GAT>AAT p.D206N ACCSL_uc009ykr.2_Missense_Mutation_p.D25N NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 206 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 TCAGTACCCTGATTGGAGAGG 0.468 66 164 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003673 50003673 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:50003673A>T uc010ria.1 - 1 365 c.365T>A c.(364-366)GTG>GAG p.V122E NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GCAGATGGCCACATAGCAGTC 0.493 6 314 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55322725 55322725 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:55322725C>G uc010rig.1 + 1 943 c.943C>G c.(943-945)CCA>GCA p.P315A NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TACACGACCTCCATCTGCTTT 0.398 HNSCC(20;0.049) 96 318 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563693 55563693 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:55563693T>A uc010rim.1 + 1 662 c.662T>A c.(661-663)GTT>GAT p.V221D NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ACTTCCTATGTTTTCATTTTT 0.473 115 229 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55927656 55927656 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:55927656G>A uc010rja.1 - 1 138 c.138C>T c.(136-138)ATC>ATT p.I46I NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TGGTCAAAATGATCATAGTTA 0.433 74 164 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468292 56468292 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:56468292G>A uc010rjn.1 + 1 429 c.429G>A c.(427-429)CTG>CTA p.L143L NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTGCATTGCTGGTAGCAGTCT 0.468 38 353 --- --- --- --- PASS LPXN 9404 broad.mit.edu 37 11 58294964 58294964 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:58294964T>C uc001nmw.2 - 9 1269 c.1124A>G c.(1123-1125)TAT>TGT p.Y375C LPXN_uc009ymp.2_Missense_Mutation_p.Y245C|LPXN_uc010rkj.1_Missense_Mutation_p.Y380C|LPXN_uc010rkk.1_Missense_Mutation_p.Y355C NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 375 LIM zinc-binding 4. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGGTTGACAATAGGTCTTGTC 0.443 53 122 --- --- --- --- PASS MS4A3 932 broad.mit.edu 37 11 59837686 59837686 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:59837686T>A uc001nom.2 + 7 753 c.625T>A c.(625-627)TCA>ACA p.S209T MS4A3_uc001non.2_Missense_Mutation_p.S163T|MS4A3_uc001noo.2_Missense_Mutation_p.S86T NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 209 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) GGAAATTTCCTCACCTCCCAA 0.373 34 96 --- --- --- --- PASS C11orf9 745 broad.mit.edu 37 11 61539172 61539172 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:61539172T>A uc001nsc.1 + 6 1037 c.941T>A c.(940-942)ATT>AAT p.I314N C11orf9_uc001nse.1_Missense_Mutation_p.I305N NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 314 NDT80.|Pro-rich. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CCTCTCAGCATTGCCCGTGTC 0.687 72 165 --- --- --- --- PASS TUT1 64852 broad.mit.edu 37 11 62342867 62342867 + Nonsense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:62342867C>T uc001nto.2 - 9 2476 c.2438G>A c.(2437-2439)TGG>TAG p.W813* EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Nonsense_Mutation_p.W309* NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 775 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 CCGCCCTTGCCACACTCGGTG 0.667 42 90 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64677243 64677243 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:64677243G>C uc001obx.2 - 14 2132 c.2017C>G c.(2017-2019)CTG>GTG p.L673V NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 673 protein binding ovary(1)|central_nervous_system(1) 2 GGCTCACTCAGCTCCAGCCGA 0.706 21 35 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64679608 64679608 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:64679608G>T uc001obx.2 - 8 1151 c.1036C>A c.(1036-1038)CCC>ACC p.P346T NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 346 protein binding ovary(1)|central_nervous_system(1) 2 GGGCTGAGGGGCTCAGCCACT 0.627 37 74 --- --- --- --- PASS EIF1AD 84285 broad.mit.edu 37 11 65767582 65767582 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:65767582C>T uc001ogm.1 - 3 423 c.138G>A c.(136-138)GGG>GGA p.G46G EIF1AD_uc001ogn.1_Silent_p.G46G|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank NM_032325 NP_115701 Q8N9N8 EIF1A_HUMAN eukaryotic translation initiation factor 1A 46 S1-like. nucleus translation initiation factor activity 0 GGAAGCGCTGCCCTTGGGCTG 0.438 54 94 --- --- --- --- PASS DHCR7 1717 broad.mit.edu 37 11 71150031 71150031 + Missense_Mutation SNP C A A rs80338857 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:71150031C>A uc001oqk.2 - 7 975 c.725G>T c.(724-726)CGC>CTC p.R242L DHCR7_uc001oql.2_Missense_Mutation_p.R242L NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 242 R -> H (in SLOS).|R -> C (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) GATCCCGGGGCGCCCATTGAA 0.537 Smith-Lemli-Opitz_syndrome 3 110 --- --- --- --- PASS DHCR7 1717 broad.mit.edu 37 11 71155063 71155063 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:71155063G>C uc001oqk.2 - 4 547 c.297C>G c.(295-297)CTC>CTG p.L99L DHCR7_uc001oql.2_Silent_p.L99L NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 99 L -> P (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) ACAAGGTATAGAGCTGGGCGG 0.627 Smith-Lemli-Opitz_syndrome 6 20 --- --- --- --- PASS MOGAT2 80168 broad.mit.edu 37 11 75431154 75431154 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:75431154A>T uc010rru.1 + 2 209 c.209A>T c.(208-210)CAC>CTC p.H70L MOGAT2_uc001oww.1_Missense_Mutation_p.H70L|MOGAT2_uc010rrv.1_5'UTR NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 70 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GGGGGCCGGCACATCCAGGCC 0.567 98 224 --- --- --- --- PASS DGAT2 84649 broad.mit.edu 37 11 75508290 75508290 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:75508290C>T uc001oxa.2 + 6 981 c.722C>T c.(721-723)GCG>GTG p.A241V DGAT2_uc001oxb.2_Missense_Mutation_p.A198V NM_032564 NP_115953 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 241 Cytoplasmic (Potential). glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 Ovarian(111;0.103) GTCGGGGGTGCGGCTGAGTCT 0.577 5 159 --- --- --- --- PASS CTSC 1075 broad.mit.edu 37 11 88033701 88033701 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:88033701G>C uc001pck.3 - 5 855 c.754C>G c.(754-756)CAA>GAA p.Q252E CTSC_uc001pcl.3_Missense_Mutation_p.Q104E NM_001814 NP_001805 P53634 CATC_HUMAN cathepsin C isoform a preproprotein 252 Q -> L (in PLS). immune response lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTTTTACCTTGGTTTCGAACA 0.368 41 104 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89429876 89429876 + Silent SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:89429876A>T uc001pda.2 + 13 1648 c.1122A>T c.(1120-1122)CCA>CCT p.P374P NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 374 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TAGGGTTACCAGACAGACCTT 0.294 60 106 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95825700 95825700 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:95825700C>A uc001pfw.1 - 2 2780 c.1495G>T c.(1495-1497)GGG>TGG p.G499W NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 499 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCAGCTACCCCAGGCATGGGG 0.587 T MECT1|CRTC3 salivary gland mucoepidermoid 21 56 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103908335 103908335 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:103908335G>T uc001phr.2 + 1 1028 c.785G>T c.(784-786)GGC>GTC p.G262V PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 262 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GTTGACTCGGGCGCCCAGATG 0.532 12 210 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106810492 106810492 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:106810492A>T uc001pjg.1 - 4 1290 c.900T>A c.(898-900)AAT>AAA p.N300K GUCY1A2_uc010rvo.1_Missense_Mutation_p.N300K|GUCY1A2_uc009yxn.1_Missense_Mutation_p.N300K NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 300 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TCTTCATGATATTAGTATTTT 0.423 51 94 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118368740 118368740 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:118368740C>A uc001pta.2 + 21 5768 c.5745C>A c.(5743-5745)GAC>GAA p.D1915E MLL_uc001ptb.2_Missense_Mutation_p.D1918E NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1915 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AAGATGATGACGGATCACTAA 0.403 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 80 193 --- --- --- --- PASS TMEM25 84866 broad.mit.edu 37 11 118403023 118403023 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:118403023T>A uc010rye.1 + 3 403 c.229T>A c.(229-231)TCA>ACA p.S77T TMEM25_uc010ryd.1_Missense_Mutation_p.S77T|TMEM25_uc001ptk.3_Missense_Mutation_p.S77T|TMEM25_uc001pth.2_Missense_Mutation_p.S77T|TMEM25_uc009zad.2_Missense_Mutation_p.S77T|TMEM25_uc001pti.2_Intron|TMEM25_uc010ryf.1_Missense_Mutation_p.S77T|TMEM25_uc001ptl.2_Missense_Mutation_p.S77T|TMEM25_uc001ptm.2_Missense_Mutation_p.S77T|TMEM25_uc001ptn.2_Missense_Mutation_p.S77T NM_032780 NP_116169 Q86YD3 TMM25_HUMAN transmembrane protein 25 isoform 1 77 Extracellular (Potential).|Ig-like. extracellular region|integral to membrane|plasma membrane 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) GGCCAGCACCTCAAGACTGCT 0.642 27 83 --- --- --- --- PASS POU2F3 25833 broad.mit.edu 37 11 120176496 120176496 + Splice_Site SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:120176496T>A uc001pxc.2 + 8 871 c.769_splice c.e8+2 p.E257_splice POU2F3_uc010rzk.1_Splice_Site_p.E211_splice|POU2F3_uc010rzl.1_Splice_Site_p.E187_splice|POU2F3_uc001pxe.1_Splice_Site_p.E42_splice NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) ATGATGCAGGTAGGCCTCGCA 0.562 9 101 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121023771 121023771 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:121023771C>A uc010rzo.1 + 12 4287 c.4287C>A c.(4285-4287)TCC>TCA p.S1429S NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1429 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCTGCTACTCCGATGGCAAAT 0.572 13 15 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777196 123777196 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:123777196C>G uc010saa.1 + 1 58 c.58C>G c.(58-60)CAA>GAA p.Q20E NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ATTAACTGAACAAGCAGAGCT 0.418 79 186 --- --- --- --- PASS ADAMTS8 11095 broad.mit.edu 37 11 130284617 130284617 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:130284617C>A uc001qgg.3 - 5 1733 c.1375G>T c.(1375-1377)GAT>TAT p.D459Y ADAMTS8_uc001qgf.2_5'Flank NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 459 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TGGCGGAAATCCGGCCCAAAG 0.672 54 82 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133791226 133791226 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr11:133791226G>A uc001qgx.3 - 18 2625 c.2394C>T c.(2392-2394)GAC>GAT p.D798D NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 798 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGCCCTGGTCGTCGGAGGATT 0.642 15 20 --- --- --- --- PASS GPR162 27239 broad.mit.edu 37 12 6933072 6933072 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:6933072G>A uc001qqw.1 + 2 543 c.8G>A c.(7-9)CGG>CAG p.R3Q GPR162_uc010sfn.1_Missense_Mutation_p.R3Q|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 3 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGGATGGCTCGGGGCGGGGCG 0.677 7 5 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7459250 7459250 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:7459250C>T uc001qsx.1 + 2 323 c.323C>T c.(322-324)CCC>CTC p.P108L NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 108 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CTCACCAAGCCCTGTGGCCTG 0.562 4 23 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174518 11174518 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:11174518T>C uc010shj.1 - 1 653 c.653A>G c.(652-654)GAT>GGT p.D218G PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 218 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 GGTGCTGGGATCTTGAGATCC 0.393 121 327 --- --- --- --- PASS ZCRB1 85437 broad.mit.edu 37 12 42706889 42706889 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:42706889C>T uc001rmz.2 - 8 843 c.634G>A c.(634-636)GAG>AAG p.E212K PPHLN1_uc001rmy.2_Intron NM_033114 NP_149105 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 212 mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding skin(1) 1 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) AGTTCTTCCTCATCACTGAAA 0.328 10 66 --- --- --- --- PASS KRT79 338785 broad.mit.edu 37 12 53227899 53227899 + Missense_Mutation SNP T C C rs112108733 byFrequency TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:53227899T>C uc001sbb.2 - 1 179 c.146A>G c.(145-147)CAC>CGC p.H49R NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 49 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 GGGGCCACAGTGGGCCCCGCC 0.652 3 25 --- --- --- --- PASS SUOX 6821 broad.mit.edu 37 12 56398187 56398187 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:56398187G>C uc001six.2 + 6 1340 c.1014G>C c.(1012-1014)CGG>CGC p.R338R SUOX_uc001siy.2_Silent_p.R338R|SUOX_uc001siz.2_Silent_p.R338R|SUOX_uc001sja.2_Silent_p.R338R NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 338 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CTCTGGCTCGGGCCATGGACC 0.602 14 61 --- --- --- --- PASS LRRC10 376132 broad.mit.edu 37 12 70003884 70003884 + Silent SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:70003884T>C uc001svc.2 - 1 1059 c.735A>G c.(733-735)CCA>CCG p.P245P NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 245 nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GGTCGGGCTCTGGCGTCTCCT 0.582 10 82 --- --- --- --- PASS BEST3 144453 broad.mit.edu 37 12 70048965 70048965 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:70048965T>A uc001svg.2 - 10 1956 c.1729A>T c.(1729-1731)AAC>TAC p.N577Y BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.N364Y|BEST3_uc010stm.1_Missense_Mutation_p.N471Y NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 577 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCTTCACAGTTGAATATATTT 0.552 40 83 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101723150 101723150 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:101723150G>A uc001tia.1 + 27 3496 c.3340G>A c.(3340-3342)GCA>ACA p.A1114T NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1114 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TCTGATCAGCGCATACCTGCC 0.403 5 198 --- --- --- --- PASS SPIC 121599 broad.mit.edu 37 12 101873438 101873438 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:101873438C>G uc001tid.2 + 4 335 c.176C>G c.(175-177)ACA>AGA p.T59R SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.T58R NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 59 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GTGTTGCCTACAGAGGAGCCT 0.388 30 79 --- --- --- --- PASS TBX5 6910 broad.mit.edu 37 12 114823354 114823354 + Nonsense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:114823354C>A uc001tvo.2 - 7 1177 c.682G>T c.(682-684)GAG>TAG p.E228* TBX5_uc001tvp.2_Nonsense_Mutation_p.E228*|TBX5_uc001tvq.2_Nonsense_Mutation_p.E178*|TBX5_uc010syv.1_Nonsense_Mutation_p.E228* NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 228 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GGATTATTCTCAATCTTTAAT 0.418 4 138 --- --- --- --- PASS TBX5 6910 broad.mit.edu 37 12 114836513 114836513 + Silent SNP G A A rs142293206 TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:114836513G>A uc001tvo.2 - 5 870 c.375C>T c.(373-375)GGC>GGT p.G125G TBX5_uc001tvp.2_Silent_p.G125G|TBX5_uc001tvq.2_Silent_p.G75G|TBX5_uc010syv.1_Silent_p.G125G NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 125 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GCTCAGCTTTGCCCGTCACAG 0.622 5 7 --- --- --- --- PASS RNF10 9921 broad.mit.edu 37 12 120972765 120972765 + Missense_Mutation SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:120972765A>C uc001typ.3 + 1 634 c.151A>C c.(151-153)AAG>CAG p.K51Q RNF10_uc010szk.1_RNA NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 51 Ser-rich. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCTAAACCCAAGAGCGGTAA 0.697 3 6 --- --- --- --- PASS SPPL3 121665 broad.mit.edu 37 12 121206828 121206828 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:121206828G>A uc001tzd.2 - 7 1018 c.537C>T c.(535-537)GCC>GCT p.A179A SPPL3_uc009zwz.2_Silent_p.A179A|SPPL3_uc001tzc.2_Silent_p.A9A NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 180 Helical; (Potential). integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGCGGACAAAGGCGATCATGG 0.567 4 9 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124968189 124968189 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:124968189G>A uc010tba.1 - 3 481 c.364C>T c.(364-366)CCC>TCC p.P122S NCOR2_uc010tay.1_Missense_Mutation_p.P122S|NCOR2_uc010taz.1_Missense_Mutation_p.P122S|NCOR2_uc010tbb.1_Missense_Mutation_p.P122S|NCOR2_uc010tbc.1_Missense_Mutation_p.P122S|NCOR2_uc001ugj.1_Missense_Mutation_p.P122S|NCOR2_uc001ugk.1_Missense_Mutation_p.P122S|uc001ugl.2_5'Flank NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 122 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCCAGCAGGGGTGACGGTCGC 0.642 3 12 --- --- --- --- PASS BRI3BP 140707 broad.mit.edu 37 12 125509609 125509609 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:125509609G>C uc001uha.1 + 3 532 c.389G>C c.(388-390)GGC>GCC p.G130A NM_080626 NP_542193 Q8WY22 BRI3B_HUMAN BRI3-binding protein 130 Helical; (Potential). integral to membrane|mitochondrial outer membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) CTGCTGGTCGGCGTCGTCCTC 0.637 32 51 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133250183 133250183 + Missense_Mutation SNP C T T rs151273553 byFrequency TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr12:133250183C>T uc001uks.1 - 13 1381 c.1337G>A c.(1336-1338)CGG>CAG p.R446Q POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R419Q NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 446 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CGTGGCCATCCGGCACATGTC 0.642 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 174 --- --- --- --- PASS EFHA1 221154 broad.mit.edu 37 13 22140935 22140935 + Splice_Site SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr13:22140935C>G uc001uof.2 - 2 380 c.358_splice c.e2+1 p.R120_splice NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) ACCCAACTCACGTTCCATTTG 0.353 6 14 --- --- --- --- PASS COG6 57511 broad.mit.edu 37 13 40263924 40263924 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr13:40263924T>A uc001uxh.2 + 11 1137 c.1037T>A c.(1036-1038)GTT>GAT p.V346D COG6_uc001uxi.2_Missense_Mutation_p.V294D|COG6_uc010acb.2_Missense_Mutation_p.V346D NM_020751 NP_065802 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 isoform 346 protein transport Golgi membrane|Golgi transport complex kidney(1)|skin(1) 2 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) CAAGAAGTTGTTGGGCATATC 0.274 20 24 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 49030426 49030426 + Nonsense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr13:49030426C>G uc001vcb.2 + 19 2067 c.1901C>G c.(1900-1902)TCA>TGA p.S634* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 634 Pocket; binds T and E1A.|Spacer. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAGCAACCTCAGCCTTCCAG 0.318 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 24 --- --- --- --- PASS F10 2159 broad.mit.edu 37 13 113798324 113798324 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr13:113798324A>G uc001vsx.2 + 6 719 c.662A>G c.(661-663)AAC>AGC p.N221S F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.N221S|F10_uc001vsz.2_Missense_Mutation_p.N221S NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 221 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTGACTTCAACCAGACGCAG 0.607 47 70 --- --- --- --- PASS OR11H12 440153 broad.mit.edu 37 14 19378028 19378028 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:19378028G>A uc010tkp.1 + 1 435 c.435G>A c.(433-435)TTG>TTA p.L145L NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 145 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCGTCCCTTGCTCTATCCTA 0.443 5 306 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20215938 20215938 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:20215938G>T uc010tkt.1 + 1 352 c.352G>T c.(352-354)GTC>TTC p.V118F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGCTGACAGTCATGGCCTA 0.502 93 70 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23873974 23873974 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:23873974G>T uc001wjv.2 - 7 655 c.588C>A c.(586-588)GCC>GCA p.A196A MYH6_uc010akp.1_Silent_p.A196A NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 196 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTGCAATGCTGGCAAAGTACT 0.577 46 35 --- --- --- --- PASS RGS6 9628 broad.mit.edu 37 14 72985064 72985064 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:72985064G>T uc001xna.3 + 15 1620 c.1097G>T c.(1096-1098)TGG>TTG p.W366L RGS6_uc010ttn.1_Missense_Mutation_p.W366L|RGS6_uc001xmx.3_Missense_Mutation_p.W366L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.W366L|RGS6_uc010ttp.1_Missense_Mutation_p.W297L|RGS6_uc001xmz.1_Missense_Mutation_p.W227L NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 366 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTCAGGTTCTGGCTGGCTGTC 0.537 44 61 --- --- --- --- PASS FAM161B 145483 broad.mit.edu 37 14 74413274 74413274 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:74413274G>T uc001xpd.1 - 2 195 c.89C>A c.(88-90)GCA>GAA p.A30E NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 CTCCTCTCCTGCCTCTGTGTC 0.468 148 111 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74825298 74825298 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:74825298C>T uc001xpw.3 + 2 2003 c.1812C>T c.(1810-1812)TCC>TCT p.S604S NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 604 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GAGGGCCTTCCAGAGAGGGGG 0.662 47 28 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75516158 75516158 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:75516158C>G uc001xrd.1 - 2 417 c.201G>C c.(199-201)GAG>GAC p.E67D MLH3_uc001xre.1_Missense_Mutation_p.E67D|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 67 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTCCCACTTTCTCTACATCAT 0.438 MMR 5 222 --- --- --- --- PASS FOXN3 1112 broad.mit.edu 37 14 89878560 89878560 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:89878560G>T uc001xxo.3 - 2 398 c.261C>A c.(259-261)GTC>GTA p.V87V FOXN3_uc001xxn.3_Silent_p.V87V|FOXN3_uc010atk.2_Silent_p.V87V|FOXN3_uc001xxp.2_Silent_p.V87V NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 87 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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 activator activity|transcription factor binding skin(2)|ovary(1) 3 CCAGGTCCTGGACGGGGCTGA 0.592 49 89 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92900300 92900300 + Nonsense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:92900300C>T uc001yak.2 + 3 259 c.235C>T c.(235-237)CAG>TAG p.Q79* SLC24A4_uc001yai.2_Nonsense_Mutation_p.Q32*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.Q96*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.Q79* NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 96 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TAAGGAGCGACAGCACGGAGC 0.542 11 125 --- --- --- --- PASS C14orf177 283598 broad.mit.edu 37 14 99183497 99183497 + Silent SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:99183497T>A uc001yfz.1 + 4 683 c.264T>A c.(262-264)TCT>TCA p.S88S NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 88 0 Melanoma(154;0.128) AAGAAACTTCTCCAGGGTCAT 0.438 96 82 --- --- --- --- PASS CYP46A1 10858 broad.mit.edu 37 14 100188385 100188385 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:100188385C>T uc001ygo.2 + 12 1158 c.1158C>T c.(1156-1158)CCC>CCT p.P386P CYP46A1_uc001ygp.2_Intron NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 386 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) TCAGAGTCCCCGGCAACACCC 0.627 5 106 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103412890 103412890 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:103412890C>A uc001ymi.1 - 28 3895 c.3663G>T c.(3661-3663)CTG>CTT p.L1221L CDC42BPB_uc001ymj.1_Silent_p.L323L NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1221 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCTGATTCCTCAGCCGGTTTT 0.517 17 117 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106963323 106963323 + RNA SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr14:106963323G>C uc010tyt.1 - 206 c.9457C>G Parts of antibodies, mostly variable regions. 0 CCCCTTACCTGTGGCTGCTGC 0.557 9 61 --- --- --- --- PASS CYFIP1 23191 broad.mit.edu 37 15 22999410 22999410 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr15:22999410G>C uc001yus.2 + 29 3386 c.3282G>C c.(3280-3282)GAG>GAC p.E1094D CYFIP1_uc001yut.2_Missense_Mutation_p.E1094D|CYFIP1_uc001yuu.2_Missense_Mutation_p.E663D|CYFIP1_uc001yuv.2_Missense_Mutation_p.E288D NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 1094 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CCATGTTTGAGGTCATCCTGA 0.592 5 74 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811738 23811738 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr15:23811738G>T uc001ywh.3 + 1 1285 c.809G>T c.(808-810)GGG>GTG p.G270V MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G270V NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 270 Makorin-type Cys-His. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GACATGTGTGGGCTGCAGACC 0.527 36 44 --- --- --- --- PASS IVD 3712 broad.mit.edu 37 15 40702942 40702942 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr15:40702942C>T uc001zls.3 + 4 745 c.411C>T c.(409-411)ATC>ATT p.I137I IVD_uc001zlq.2_Silent_p.I107I NM_002225 NP_002216 P26440 IVD_HUMAN isovaleryl Coenzyme A dehydrogenase isoform 1 134 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) ACCTCTGCATCAACCAGCTTG 0.542 37 29 --- --- --- --- PASS SCG3 29106 broad.mit.edu 37 15 51984508 51984508 + Silent SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr15:51984508T>C uc002abh.2 + 7 1251 c.843T>C c.(841-843)TAT>TAC p.Y281Y SCG3_uc010ufz.1_Silent_p.Y49Y NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 281 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) CAAATTTCTATGCGCTACTGA 0.378 75 88 --- --- --- --- PASS MEGF11 84465 broad.mit.edu 37 15 66223281 66223281 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr15:66223281C>T uc002apm.2 - 11 1429 c.1288G>A c.(1288-1290)GGA>AGA p.G430R MEGF11_uc002apl.2_Missense_Mutation_p.G355R|MEGF11_uc002apn.1_Missense_Mutation_p.G430R NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 430 EGF-like 7. basolateral plasma membrane|integral to membrane pancreas(1) 1 CAGACCTCTCCCTGGAAAGGG 0.428 16 18 --- --- --- --- PASS MSLNL 401827 broad.mit.edu 37 16 825561 825561 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:825561C>A uc002cjz.1 - 5 1200 c.1200G>T c.(1198-1200)AGG>AGT p.R400S NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 CCGTGGGCGCCCTTCCCCTCT 0.716 9 14 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16170234 16170234 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:16170234G>T uc010bvi.2 + 15 2139 c.1964G>T c.(1963-1965)AGG>ATG p.R655M ABCC1_uc010bvj.2_Missense_Mutation_p.R655M|ABCC1_uc010bvk.2_Missense_Mutation_p.R655M|ABCC1_uc010bvl.2_Missense_Mutation_p.R655M|ABCC1_uc010bvm.2_Missense_Mutation_p.R655M|ABCC1_uc002del.3_Missense_Mutation_p.R539M NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 655 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACCTGGGCCAGGAGCGACCCT 0.418 14 37 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20702439 20702439 + Silent SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:20702439A>T uc002dhm.1 - 1 140 c.72T>A c.(70-72)CCT>CCA p.P24P ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.P24P NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 24 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 GCAGCTGTGAAGGGGCAGGGT 0.502 72 192 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21030989 21030989 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:21030989G>T uc010vbe.1 - 41 5979 c.5979C>A c.(5977-5979)CCC>CCA p.P1993P NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1993 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TGACGCTTTTGGGCCTTGGGT 0.413 63 171 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 23999892 23999892 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:23999892A>T uc002dmd.2 + 3 466 c.269A>T c.(268-270)GAC>GTC p.D90V PRKCB_uc002dme.2_Missense_Mutation_p.D90V NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 90 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CCTGGCGCTGACAAGGGTCCA 0.428 36 78 --- --- --- --- PASS NETO2 81831 broad.mit.edu 37 16 47117149 47117149 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:47117149T>A uc002eer.1 - 9 1946 c.1561A>T c.(1561-1563)ATA>TTA p.I521L NETO2_uc002eeq.1_Missense_Mutation_p.I256L|NETO2_uc010vgf.1_Missense_Mutation_p.I378L NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 521 Cytoplasmic (Potential). integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TCAATGGATATGGATGCTTGT 0.507 HNSCC(25;0.065) 66 64 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49672234 49672234 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:49672234C>T uc002efs.2 - 5 1127 c.829G>A c.(829-831)GAG>AAG p.E277K ZNF423_uc010vgn.1_Missense_Mutation_p.E160K NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 277 C2H2-type 6. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TTCTCCAGCTCCTCCGTCTGG 0.582 22 28 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51172639 51172639 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:51172639G>T uc010vgs.1 - 2 3525 c.3494C>A c.(3493-3495)ACT>AAT p.T1165N SALL1_uc010vgr.1_Missense_Mutation_p.T1068N|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1165 C2H2-type 9. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCCACAAATAGTGCAAGCAAA 0.483 26 29 --- --- --- --- PASS C16orf48 84080 broad.mit.edu 37 16 67700143 67700143 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr16:67700143C>T uc002etw.1 - 2 394 c.111G>A c.(109-111)GCG>GCA p.A37A C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.A37A|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank NM_032140 NP_115516 Q9H0I2 CP048_HUMAN hypothetical protein LOC84080 37 microtubule cytoskeleton protein binding 0 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCAGCTTCAGCGCGTTTCCCT 0.731 3 39 --- --- --- --- PASS BCL6B 255877 broad.mit.edu 37 17 6927751 6927751 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:6927751C>T uc002geg.2 + 4 490 c.433C>T c.(433-435)CTG>TTG p.L145L BCL6B_uc010clt.1_Silent_p.L145L NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 145 Pro-rich. nucleus zinc ion binding skin(1) 1 CCTGCGCCCCCTGGAAGCAGA 0.587 51 115 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10411234 10411234 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:10411234G>A uc002gmo.2 - 17 2031 c.1937C>T c.(1936-1938)TCT>TTT p.S646F uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 646 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CTGGAAAGAAGAACCCTTCTT 0.398 44 70 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16097825 16097825 + Missense_Mutation SNP T A A rs73281920 by1000genomes TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:16097825T>A uc002gpo.2 - 2 299 c.59A>T c.(58-60)TAT>TTT p.Y20F NCOR1_uc002gpn.2_Missense_Mutation_p.Y20F|NCOR1_uc002gpp.1_Missense_Mutation_p.Y20F|NCOR1_uc002gpr.2_Missense_Mutation_p.Y20F|NCOR1_uc002gps.1_Missense_Mutation_p.Y20F|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.Y20F|NCOR1_uc010cpa.1_Missense_Mutation_p.Y20F|NCOR1_uc002gpu.2_Missense_Mutation_p.Y20F NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 20 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTGAGGAGGATAACGACTTTG 0.428 8 30 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32964687 32964687 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:32964687G>T uc002hif.2 + 10 2719 c.2391G>T c.(2389-2391)CTG>CTT p.L797L NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 797 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) TGACAGACCTGGAGATCGGCA 0.652 25 55 --- --- --- --- PASS DHX58 79132 broad.mit.edu 37 17 40260052 40260052 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:40260052C>A uc002hyw.3 - 7 976 c.753G>T c.(751-753)CGG>CGT p.R251R DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.R244R NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 251 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCCCAAATTTCCGGCTCAACT 0.473 42 53 --- --- --- --- PASS NBR1 4077 broad.mit.edu 37 17 41362019 41362019 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:41362019A>T uc010czd.2 + 21 2967 c.2827A>T c.(2827-2829)AAT>TAT p.N943Y NBR1_uc010diz.2_Missense_Mutation_p.N943Y|NBR1_uc010whv.1_Missense_Mutation_p.N943Y|NBR1_uc010whw.1_3'UTR|TMEM106A_uc002idn.1_5'Flank|TMEM106A_uc010why.1_5'Flank|TMEM106A_uc010cze.1_5'Flank|TMEM106A_uc010whz.1_5'Flank NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 943 UBA. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GAAGAAACACAATTACAATAT 0.443 8 14 --- --- --- --- PASS PRR11 55771 broad.mit.edu 37 17 57275130 57275130 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr17:57275130G>T uc002ixf.1 + 9 1073 c.994G>T c.(994-996)GCC>TCC p.A332S PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 332 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GATGACGCAGGCCTTAAGGAG 0.343 92 66 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3067412 3067412 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:3067412C>T uc002klp.2 - 38 5240 c.4906G>A c.(4906-4908)GTG>ATG p.V1636M MYOM1_uc002klq.2_Missense_Mutation_p.V1540M NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1636 Ig-like C2-type 5. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCGGTGCTCACGCCGTTGATG 0.587 9 62 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5416379 5416379 + Splice_Site SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:5416379T>A uc002kmt.1 - 13 1593 c.1507_splice c.e13-1 p.S503_splice EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CCCAGGTGACTGATGTgaaag 0.408 31 72 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6993639 6993639 + Splice_Site SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:6993639C>T uc002knm.2 - 35 5102 c.5008_splice c.e35+1 p.E1670_splice LAMA1_uc010wzj.1_Splice_Site_p.E1146_splice NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCACACTACCTGTGATGCT 0.428 77 149 --- --- --- --- PASS TXNDC2 84203 broad.mit.edu 37 18 9887052 9887052 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:9887052G>C uc002koi.3 + 2 1025 c.576G>C c.(574-576)GAG>GAC p.E192D TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E125D NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 192 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6. 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 CCAAGAAGGAGGACCTCCCCA 0.567 17 205 --- --- --- --- PASS CTAGE1 64693 broad.mit.edu 37 18 19996472 19996472 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:19996472C>A uc002ktv.1 - 1 1407 c.1303G>T c.(1303-1305)GCA>TCA p.A435S NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 435 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GTCCAAGCTGCCGACCAATTA 0.313 30 121 --- --- --- --- PASS TTR 7276 broad.mit.edu 37 18 29175121 29175121 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:29175121C>T uc002kwx.3 + 3 375 c.239C>T c.(238-240)ACT>ATT p.T80I NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 80 T -> A (in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy). transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) GGGCTCACAACTGAGGAGGAA 0.453 23 69 --- --- --- --- PASS KIAA1012 22878 broad.mit.edu 37 18 29453429 29453429 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:29453429G>A uc002kxc.3 - 14 2390 c.2026C>T c.(2026-2028)CGG>TGG p.R676W KIAA1012_uc002kxb.3_Missense_Mutation_p.R622W|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 676 ER to Golgi vesicle-mediated transport cis-Golgi network 0 AAAAAAACCCGTGTTGCTGAA 0.368 19 51 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31263479 31263479 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr18:31263479C>A uc010dmg.1 + 8 881 c.826C>A c.(826-828)CCT>ACT p.P276T ASXL3_uc002kxq.2_5'UTR NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGCTTCCTTACCTCAGCATTT 0.388 27 60 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 425217 425217 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:425217C>A uc002loq.3 - 10 1189 c.1189G>T c.(1189-1191)GGC>TGC p.G397C SHC2_uc002lop.3_Missense_Mutation_p.G138C NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 397 CH1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCACGTAGCCGTCCCCCGGT 0.721 12 8 --- --- --- --- PASS ZFR2 23217 broad.mit.edu 37 19 3819124 3819124 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:3819124G>A uc002lyw.2 - 12 1862 c.1850C>T c.(1849-1851)GCA>GTA p.A617V NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 617 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GGCCCGCTCTGCGTGGGACAC 0.687 4 7 --- --- --- --- PASS DUS3L 56931 broad.mit.edu 37 19 5788169 5788169 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:5788169G>C uc002mdc.2 - 5 1058 c.961C>G c.(961-963)CGA>GGA p.R321G DUS3L_uc002mdd.2_Missense_Mutation_p.R79G|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 321 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 CAGATCCGTCGGAAGGGCAGG 0.502 18 27 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9075135 9075135 + Nonsense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:9075135G>C uc002mkp.2 - 3 12515 c.12311C>G c.(12310-12312)TCA>TGA p.S4104* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4106 Thr-rich.|Extracellular (Potential).|Ser-rich. 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 TGCACTTAGTGATGTAGCGCC 0.507 36 51 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10610211 10610211 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:10610211C>A uc002moq.1 - 2 655 c.499G>T c.(499-501)GTT>TTT p.V167F KEAP1_uc002mor.1_Missense_Mutation_p.V167F NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 167 V -> F (in a lung adenocarcinoma patient). regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCACGGACAACGCTGTCGATC 0.582 28 40 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11510615 11510615 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:11510615C>T uc002mrp.2 - 16 1726 c.1662G>A c.(1660-1662)GGG>GGA p.G554G RGL3_uc002mrn.2_Silent_p.G318G|RGL3_uc002mrm.2_Silent_p.G318G|RGL3_uc002mro.2_Silent_p.G560G NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 554 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 AGGGGGGTGACCCTGGGGACA 0.637 37 48 --- --- --- --- PASS ECSIT 51295 broad.mit.edu 37 19 11624938 11624938 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:11624938G>C uc002msb.2 - 3 329 c.195C>G c.(193-195)CCC>CCG p.P65P ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.P65P|ECSIT_uc010dyd.2_Silent_p.P65P|ECSIT_uc010xma.1_Intron NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN evolutionarily conserved signaling intermediate 65 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding ovary(1) 1 GAGCCTTGGTGGGCCTCTGCC 0.667 12 15 --- --- --- --- PASS ZNF20 7568 broad.mit.edu 37 19 12243921 12243921 + Silent SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:12243921T>C uc002mtf.1 - 4 1223 c.1080A>G c.(1078-1080)ACA>ACG p.T360T ZNF20_uc002mte.1_Silent_p.T325T|ZNF20_uc002mtg.1_Silent_p.T360T NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 360 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTCAGTGTGTGTCTTTTCAT 0.443 48 58 --- --- --- --- PASS ZNF136 7695 broad.mit.edu 37 19 12297702 12297702 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:12297702G>T uc002mti.2 + 4 609 c.509G>T c.(508-510)TGT>TTT p.C170F ZNF136_uc010xmh.1_Missense_Mutation_p.C104F NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 170 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 CTCTATGATTGTAAGGAATGT 0.393 30 34 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13397745 13397745 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:13397745G>T uc010dze.2 - 20 3364 c.3128C>A c.(3127-3129)CCC>CAC p.P1043H CACNA1A_uc010dzc.2_Missense_Mutation_p.P568H|CACNA1A_uc002mwy.3_Missense_Mutation_p.P1042H|CACNA1A_uc010xne.1_Missense_Mutation_p.P571H NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1043 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGACAGGTTGGGGCCCGACAC 0.552 22 22 --- --- --- --- PASS OR7C2 26658 broad.mit.edu 37 19 15052439 15052439 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:15052439C>A uc010xoc.1 + 1 139 c.139C>A c.(139-141)CTG>ATG p.L47M NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 47 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) GCTCATCATCCTGACCATCAG 0.527 48 54 --- --- --- --- PASS ZNF708 7562 broad.mit.edu 37 19 21476912 21476912 + Missense_Mutation SNP C A A rs112819776 by1000genomes TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:21476912C>A uc002npq.1 - 4 1054 c.856G>T c.(856-858)GGC>TGC p.G286C ZNF708_uc002npr.1_Missense_Mutation_p.G222C|ZNF708_uc010ecs.1_Missense_Mutation_p.G222C NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 286 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 AAAGCTTTGCCACATTCTTCA 0.383 37 68 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24309708 24309708 + Silent SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:24309708A>G uc002nru.2 + 4 1040 c.906A>G c.(904-906)GCA>GCG p.A302A ZNF254_uc010xrk.1_Silent_p.A217A NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 302 C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GTGGCAAAGCATTTATCTGGT 0.363 40 32 --- --- --- --- PASS SLC7A9 11136 broad.mit.edu 37 19 33349399 33349399 + Silent SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:33349399A>G uc002ntv.3 - 9 1041 c.924T>C c.(922-924)TTT>TTC p.F308F SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.F308F|SLC7A9_uc002ntw.3_Silent_p.F99F NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 308 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) AAAATGCCACAAAAAGTGGAA 0.562 21 40 --- --- --- --- PASS GPATCH1 55094 broad.mit.edu 37 19 33600724 33600724 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:33600724A>T uc002nug.1 + 11 1701 c.1387A>T c.(1387-1389)AGG>TGG p.R463W NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 463 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GCTCAAGGCCAGGAGTCTGGC 0.537 31 88 --- --- --- --- PASS RBM42 79171 broad.mit.edu 37 19 36122095 36122095 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:36122095C>T uc002oan.2 + 3 412 c.336C>T c.(334-336)CCC>CCT p.P112P RBM42_uc010xsx.1_Silent_p.P112P|RBM42_uc010eef.2_Silent_p.P112P|RBM42_uc002oao.2_Silent_p.P112P|RBM42_uc002oap.2_Silent_p.P112P|RBM42_uc002oaq.2_Silent_p.P112P|RBM42_uc010eeg.2_Silent_p.P112P NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 112 cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TAGTTCCTCCCATGGTGGGTG 0.587 70 105 --- --- --- --- PASS SPRED3 399473 broad.mit.edu 37 19 38885282 38885282 + Splice_Site SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:38885282G>T uc002oim.2 + 4 428 c.424_splice c.e4-1 p.S142_splice NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ATCTCCTCCAGTCCCACGTGG 0.587 5 3 --- --- --- --- PASS BCKDHA 593 broad.mit.edu 37 19 41916685 41916685 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:41916685G>A uc002oqq.2 + 2 281 c.252G>A c.(250-252)CGG>CGA p.R84R CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.R118R|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Silent_p.R84R|BCKDHA_uc010xvz.1_Silent_p.R62R NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 84 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 TCATGGACCGGCAAGGCCAGA 0.632 4 146 --- --- --- --- PASS ZNF574 64763 broad.mit.edu 37 19 42583881 42583881 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:42583881A>G uc002osm.3 + 2 1292 c.1123A>G c.(1123-1125)ACA>GCA p.T375A ZNF574_uc002osk.3_Missense_Mutation_p.T465A NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 375 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GGCCTTCGGCACAGAGGCCCT 0.577 9 106 --- --- --- --- PASS PSG7 5676 broad.mit.edu 37 19 43441184 43441184 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:43441184C>G uc002ovl.3 - 1 147 c.45G>C c.(43-45)TGG>TGC p.W15C PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.W15C NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 15 female pregnancy extracellular region 0 Prostate(69;0.00682) GGAGCCCTTTCCAGGTTATAT 0.567 50 207 --- --- --- --- PASS PNMAL1 55228 broad.mit.edu 37 19 46973039 46973039 + Silent SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:46973039A>C uc002peq.3 - 2 1560 c.1254T>G c.(1252-1254)TCT>TCG p.S418S PNMAL1_uc002per.3_Intron NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 418 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TCGGACCCCTAGAGGTTGAGG 0.612 21 24 --- --- --- --- PASS PNMAL2 57469 broad.mit.edu 37 19 46998649 46998649 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:46998649C>A uc002pes.2 - 1 521 c.74G>T c.(73-75)GGC>GTC p.G25V uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 25 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ctccgggatgccggtgaccag 0.080 13 56 --- --- --- --- PASS ZC3H4 23211 broad.mit.edu 37 19 47575963 47575963 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:47575963G>A uc002pga.3 - 12 1486 c.1448C>T c.(1447-1449)GCC>GTC p.A483V ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 483 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGCATCATCGGCCAACATCTG 0.562 3 43 --- --- --- --- PASS GPR77 27202 broad.mit.edu 37 19 47844663 47844663 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:47844663A>G uc010ela.1 + 2 825 c.607A>G c.(607-609)ATC>GTC p.I203V GPR77_uc002pgk.1_Missense_Mutation_p.I203V NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 203 Helical; Name=5; (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) GGTGACTGCCATCCGGTTTCT 0.692 6 49 --- --- --- --- PASS ACPT 93650 broad.mit.edu 37 19 51298356 51298356 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:51298356G>A uc002pta.1 + 11 1222 c.1222G>A c.(1222-1224)GGG>AGG p.G408R NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 408 Helical; (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ACTCAGCTTGGGGCTGGGCCT 0.687 4 9 --- --- --- --- PASS ZNF28 7576 broad.mit.edu 37 19 53303427 53303427 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:53303427C>T uc002qad.2 - 4 1791 c.1671G>A c.(1669-1671)GAG>GAA p.E557E ZNF28_uc002qac.2_Silent_p.E504E|ZNF28_uc010eqe.2_Silent_p.E503E NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 557 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGAAAACTTTCTCACATTCTT 0.398 92 154 --- --- --- --- PASS ZNF28 7576 broad.mit.edu 37 19 53303938 53303938 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:53303938T>A uc002qad.2 - 4 1280 c.1160A>T c.(1159-1161)GAA>GTA p.E387V ZNF28_uc002qac.2_Missense_Mutation_p.E334V|ZNF28_uc010eqe.2_Missense_Mutation_p.E333V NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 387 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTTTTCACATTCTTCACATTC 0.388 100 189 --- --- --- --- PASS MIR518A2 574491 broad.mit.edu 37 19 54242613 54242613 + RNA SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:54242613A>T hsa-mir-518a-2|MI0003173 + c.27A>T MIR517C_hsa-mir-517c|MI0003174_5'Flank 0 TGCAAAGGGAAGCCCTTTCTG 0.433 117 85 --- --- --- --- PASS MIR516A1 574498 broad.mit.edu 37 19 54260071 54260071 + RNA SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:54260071G>C hsa-mir-516a-1|MI0003180 + c.77G>C MIR1283-2_hsa-mir-1283-2|MI0006430_5'Flank 0 CTTTCAGAGGGTTACGGTTTG 0.448 108 86 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701832 56701832 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:56701832G>T uc010ygh.1 - 4 852 c.852C>A c.(850-852)AGC>AGA p.S284R NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 284 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CTCTGTTCCCGCTGTGAGTCA 0.522 75 277 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175947 57175947 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:57175947G>A uc010ygo.1 - 2 686 c.686C>T c.(685-687)ACG>ATG p.T229M ZNF835_uc010ygn.1_Missense_Mutation_p.T207M NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GGTCAGGTGCGTGACGCGCGT 0.721 6 10 --- --- --- --- PASS ZNF497 162968 broad.mit.edu 37 19 58867836 58867836 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr19:58867836G>A uc002qsh.1 - 3 1355 c.1166C>T c.(1165-1167)GCC>GTC p.A389V A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A389V|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 389 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 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;0.0278) GCCGCAGTCGGCGCAGGCGAA 0.706 3 6 --- --- --- --- PASS TMX4 56255 broad.mit.edu 37 20 7963243 7963243 + Silent SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:7963243A>T uc002wmx.1 - 8 838 c.705T>A c.(703-705)GCT>GCA p.A235A NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 235 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane 0 CAGCTCTATGAGCCTCCTCTG 0.279 59 123 --- --- --- --- PASS C20orf12 55184 broad.mit.edu 37 20 18433327 18433327 + Nonsense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:18433327C>A uc010zsa.1 - 6 741 c.532G>T c.(532-534)GAG>TAG p.E178* C20orf12_uc002wqr.3_Splice_Site|C20orf12_uc002wqs.3_Splice_Site_p.R9_splice|C20orf12_uc002wqq.3_Splice_Site_p.E159_splice|C20orf12_uc002wqu.1_Intron|C20orf12_uc010gct.1_Intron NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 Error:Variant_position_missing_in_Q9NVP4_after_alignment intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) AATGGACTCTCTGAAAAGTGA 0.408 13 28 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20232401 20232401 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:20232401G>C uc002wru.2 + 20 2398 c.2322G>C c.(2320-2322)CAG>CAC p.Q774H C20orf26_uc010zse.1_Missense_Mutation_p.Q754H|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.Q130H NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 774 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCGGGCAGCAGTACCAGGTAA 0.582 46 104 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33874542 33874542 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:33874542C>A uc010zux.1 - 4 2158 c.2040G>T c.(2038-2040)CTG>CTT p.L680L EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.L335L NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 680 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGATGAGGTCCAGCTTGCTGT 0.617 28 101 --- --- --- --- PASS SEMG2 6407 broad.mit.edu 37 20 43850949 43850949 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:43850949G>A uc010ggz.2 + 2 733 c.676G>A c.(676-678)GTG>ATG p.V226M SEMG2_uc002xnk.2_Missense_Mutation_p.V226M|SEMG2_uc002xnl.2_Missense_Mutation_p.V226M NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 226 2-2.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) TGTGGTTGACGTGAGAGAGGA 0.378 66 167 --- --- --- --- PASS PIGT 51604 broad.mit.edu 37 20 44048147 44048147 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:44048147G>T uc002xoh.1 + 5 671 c.598G>T c.(598-600)GGC>TGC p.G200C PIGT_uc010ghb.1_Missense_Mutation_p.G190C|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Missense_Mutation_p.G107C|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.G163C|PIGT_uc010ghf.1_Missense_Mutation_p.G153C|PIGT_uc002xoj.1_Missense_Mutation_p.G200C|PIGT_uc002xok.1_Splice_Site_p.G165_splice|PIGT_uc010zwu.1_Translation_Start_Site|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Translation_Start_Site|PIGT_uc010zww.1_Missense_Mutation_p.G144C|PIGT_uc010zwx.1_Missense_Mutation_p.G35C|PIGT_uc010zwy.1_Missense_Mutation_p.G98C|PIGT_uc010zwz.1_Translation_Start_Site|PIGT_uc010zxa.1_Missense_Mutation_p.G38C|PIGT_uc002xol.1_Missense_Mutation_p.G56C|PIGT_uc010zxb.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 200 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CCTCCAGGCAGGCCTCTCTGT 0.587 103 203 --- --- --- --- PASS MMP9 4318 broad.mit.edu 37 20 44639932 44639932 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:44639932G>C uc002xqz.2 + 5 819 c.800G>C c.(799-801)CGG>CCG p.R267P NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 267 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) ACCGACGACCGGTTTGGCTTC 0.582 47 102 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47886894 47886894 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:47886894G>A uc002xui.2 - 3 1702 c.1455C>T c.(1453-1455)TGC>TGT p.C485C NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 485 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCTCATTGAAGCAGAGCTGGA 0.502 18 273 --- --- --- --- PASS ATP9A 10079 broad.mit.edu 37 20 50273654 50273654 + Silent SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:50273654C>A uc002xwg.1 - 14 1329 c.1329G>T c.(1327-1329)ACG>ACT p.T443T ATP9A_uc010gih.1_Silent_p.T307T|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 443 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 TAGTGGTGAGCGTTGGGCCCT 0.577 22 69 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51871519 51871519 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:51871519G>C uc002xwo.2 + 2 2478 c.1522G>C c.(1522-1524)GAT>CAT p.D508H NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 508 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGACTTGGAAGATGGCTCAAA 0.458 50 137 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55033731 55033731 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:55033731G>T uc002xxp.2 + 7 2514 c.2289G>T c.(2287-2289)GCG>GCT p.A763A CASS4_uc002xxr.2_Silent_p.A763A|CASS4_uc010zze.1_Silent_p.A709A|CASS4_uc010gio.2_Silent_p.A326A NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 763 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GCCCTGCCGCGCTGGGGCACC 0.637 6 39 --- --- --- --- PASS BIRC7 79444 broad.mit.edu 37 20 61867797 61867797 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:61867797G>T uc002yej.2 + 1 522 c.349G>T c.(349-351)GGC>TGC p.G117C BIRC7_uc010gkc.1_Missense_Mutation_p.G117C|BIRC7_uc002yei.2_Missense_Mutation_p.G117C|hsa-mir-3196|MI0014241_5'Flank NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 117 BIR. activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) CTTCCACACAGGTCAGTCCCG 0.667 25 36 --- --- --- --- PASS MYT1 4661 broad.mit.edu 37 20 62839118 62839118 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr20:62839118C>A uc002yii.2 + 7 933 c.569C>A c.(568-570)CCA>CAA p.P190Q MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 190 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCGGCCAAGCCAGGTCCTGGC 0.587 42 32 --- --- --- --- PASS KRTAP27-1 643812 broad.mit.edu 37 21 31709843 31709843 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr21:31709843G>T uc002ynx.1 - 1 170 c.144C>A c.(142-144)GAC>GAA p.D48E NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 48 intermediate filament ovary(2) 2 CTTGAAAGTTGTCCAGGAAAC 0.463 21 214 --- --- --- --- PASS TTC3 7267 broad.mit.edu 37 21 38460573 38460573 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr21:38460573A>G uc002yvz.2 + 4 370 c.265A>G c.(265-267)ATC>GTC p.I89V TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.I89V|TTC3_uc002ywb.2_Missense_Mutation_p.I89V|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.I89V NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 89 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TAAAATAAACATCTTCTGGCC 0.338 7 163 --- --- --- --- PASS BACE2 25825 broad.mit.edu 37 21 42647528 42647528 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr21:42647528C>T uc002yyw.2 + 9 1997 c.1534C>T c.(1534-1536)CTG>TTG p.L512L BACE2_uc002yyx.2_Silent_p.L462L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 isoform A 512 Cytoplasmic (Potential). membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) TGAGTCCTCTCTGGTCAGACA 0.552 56 120 --- --- --- --- PASS KRTAP12-3 386683 broad.mit.edu 37 21 46078016 46078016 + Nonsense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr21:46078016C>A uc002zft.2 + 1 168 c.120C>A c.(118-120)TGC>TGA p.C40* C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN keratin associated protein 12-3 40 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1) 1 CCGTGAGCTGCACGCGCATTG 0.642 108 70 --- --- --- --- PASS LZTR1 8216 broad.mit.edu 37 22 21347115 21347115 + Silent SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:21347115T>C uc002zto.2 + 11 1285 c.1182T>C c.(1180-1182)GCT>GCC p.A394A LZTR1_uc002ztn.2_Silent_p.A353A|LZTR1_uc011ahy.1_Silent_p.A375A|LZTR1_uc010gsr.1_Silent_p.A265A NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 394 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACGCGGCTGCTGTCATCTCGG 0.642 6 7 --- --- --- --- PASS LZTR1 8216 broad.mit.edu 37 22 21347116 21347116 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:21347116G>T uc002zto.2 + 11 1286 c.1183G>T c.(1183-1185)GTC>TTC p.V395F LZTR1_uc002ztn.2_Missense_Mutation_p.V354F|LZTR1_uc011ahy.1_Missense_Mutation_p.V376F|LZTR1_uc010gsr.1_Missense_Mutation_p.V266F NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 395 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGCGGCTGCTGTCATCTCGGA 0.647 6 7 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32302363 32302363 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:32302363G>T uc003als.2 + 42 4741 c.4599G>T c.(4597-4599)GGG>GGT p.G1533G DEPDC5_uc011als.1_Silent_p.G1464G|DEPDC5_uc011alu.1_Silent_p.G1564G|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.G1555G|DEPDC5_uc003alu.2_Silent_p.G982G|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.G831G|DEPDC5_uc011alx.1_Silent_p.G381G|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.G569*|DEPDC5_uc011aly.1_Silent_p.G381G NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1533 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GCGCCACAGGGGATGAAAAGT 0.562 75 86 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 33700389 33700389 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:33700389C>A uc003and.3 - 13 2135 c.1556G>T c.(1555-1557)GGC>GTC p.G519V LARGE_uc011amd.1_Missense_Mutation_p.G318V|LARGE_uc003ane.3_Missense_Mutation_p.G519V|LARGE_uc010gwp.2_Missense_Mutation_p.G467V|LARGE_uc011ame.1_Missense_Mutation_p.G451V|LARGE_uc011amf.1_Missense_Mutation_p.G519V NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 519 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) CACCTCAGAGCCCTGTGCGTA 0.627 46 54 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38119338 38119338 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:38119338G>A uc003atr.2 + 7 1046 c.775G>A c.(775-777)GCT>ACT p.A259T TRIOBP_uc003atu.2_Missense_Mutation_p.A87T|TRIOBP_uc003atq.1_Missense_Mutation_p.A259T|TRIOBP_uc003ats.1_Missense_Mutation_p.A87T NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 259 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CACGTCTCAGGCTTCTCCTGC 0.617 7 70 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 39996543 39996543 + Missense_Mutation SNP T G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:39996543T>G uc003ayc.2 + 3 367 c.367T>G c.(367-369)TTT>GTT p.F123V CACNA1I_uc003ayd.2_Missense_Mutation_p.F123V|CACNA1I_uc003aye.2_Missense_Mutation_p.F38V|CACNA1I_uc003ayf.2_Missense_Mutation_p.F38V NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 123 I.|Helical; Name=S2 of repeat I; (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) TGACTTCATCTTTATCTTCTT 0.557 21 20 --- --- --- --- PASS CPT1B 1375 broad.mit.edu 37 22 51007796 51007796 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr22:51007796G>C uc003bmk.3 - 18 2452 c.2290C>G c.(2290-2292)CTT>GTT p.L764V CPT1B_uc003bml.2_Missense_Mutation_p.L764V|CPT1B_uc003bmm.2_Missense_Mutation_p.L764V|CPT1B_uc003bmo.2_Missense_Mutation_p.L764V|CPT1B_uc011asa.1_Missense_Mutation_p.L730V|CPT1B_uc003bmn.2_Missense_Mutation_p.L764V|CPT1B_uc011asb.1_Missense_Mutation_p.L683V|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.L559V|uc003bmr.1_5'Flank NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 764 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) ACTTGGAAAAGATCAGCAATG 0.557 5 165 --- --- --- --- PASS GLRA2 2742 broad.mit.edu 37 X 14599312 14599312 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:14599312G>T uc010nep.2 + 5 610 c.278G>T c.(277-279)CGA>CTA p.R93L GLRA2_uc010neq.2_Missense_Mutation_p.R93L|GLRA2_uc004cwe.3_Missense_Mutation_p.R93L|GLRA2_uc011mio.1_Missense_Mutation_p.R4L|GLRA2_uc011mip.1_Missense_Mutation_p.R71L NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 93 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TAGGACTACCGAGTGAATATT 0.468 17 104 --- --- --- --- PASS FANCB 2187 broad.mit.edu 37 X 14861877 14861877 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:14861877C>A uc004cwg.1 - 10 2660 c.2392G>T c.(2392-2394)GTC>TTC p.V798F FANCB_uc004cwh.1_Missense_Mutation_p.V798F NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 798 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) GCAGCCGCGACGACACTACTC 0.408 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 29 193 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29972768 29972768 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:29972768A>T uc004dby.2 + 10 1839 c.1331A>T c.(1330-1332)TAT>TTT p.Y444F NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 444 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CATTATGGATATAAGTTGTTT 0.383 51 136 --- --- --- --- PASS MAGEB1 4112 broad.mit.edu 37 X 30269105 30269105 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:30269105G>A uc004dcc.2 + 4 815 c.495G>A c.(493-495)TTG>TTA p.L165L MAGEB1_uc004dcd.2_Silent_p.L165L|MAGEB1_uc004dce.2_Silent_p.L165L NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 165 MAGE. 0 GCCTTGATTTGAAGGAAGACA 0.483 22 38 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149883 34149883 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:34149883C>T uc004ddg.2 - 1 546 c.513G>A c.(511-513)AAG>AAA p.K171K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 171 ovary(4)|central_nervous_system(1) 5 CCTCTGTTGTCTTCTCCTGGG 0.572 13 81 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34962130 34962130 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:34962130G>T uc004ddi.1 + 1 1200 c.1182G>T c.(1180-1182)ATG>ATT p.M394I NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 394 ovary(3)|breast(1) 4 AGAGTCGGATGCCCCATCTCC 0.582 23 63 --- --- --- --- PASS CXorf59 286464 broad.mit.edu 37 X 36117965 36117965 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:36117965C>A uc004ddk.1 + 7 1007 c.821C>A c.(820-822)GCA>GAA p.A274E NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 274 integral to membrane central_nervous_system(1) 1 AGTAAACGGGCATGGACAGAT 0.333 67 164 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37027930 37027930 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:37027930G>T uc004ddl.1 + 1 1461 c.1447G>T c.(1447-1449)GTA>TTA p.V483L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 483 ovary(3) 3 AGAGAAGGACGTATCTCATCT 0.627 27 86 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028017 37028017 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:37028017C>A uc004ddl.1 + 1 1548 c.1534C>A c.(1534-1536)CCA>ACA p.P512T NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 512 ovary(3) 3 TCATCTCCGCCCAGAGCCTTC 0.597 25 115 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028891 37028891 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:37028891C>T uc004ddl.1 + 1 2422 c.2408C>T c.(2407-2409)CCT>CTT p.P803L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 803 ovary(3) 3 CGCCTGGAGCCTCCCAAGACT 0.587 10 75 --- --- --- --- PASS GPR34 2857 broad.mit.edu 37 X 41555559 41555559 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:41555559G>T uc004dfp.3 + 3 957 c.673G>T c.(673-675)GTA>TTA p.V225L CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.V225L|GPR34_uc010nhg.2_Missense_Mutation_p.V225L|GPR34_uc004dfr.3_Missense_Mutation_p.V225L NM_001097579 NP_001091048 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 225 Helical; Name=5; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 CATTCTTGTGGTAATGTTCTG 0.318 18 92 --- --- --- --- PASS ZNF41 7592 broad.mit.edu 37 X 47308216 47308216 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:47308216G>T uc004dhs.3 - 4 1146 c.1079C>A c.(1078-1080)CCA>CAA p.P360Q ZNF41_uc004dhu.3_Missense_Mutation_p.P352Q|ZNF41_uc004dht.3_Missense_Mutation_p.P232Q|ZNF41_uc004dhv.3_Missense_Mutation_p.P328Q|ZNF41_uc004dhw.3_Missense_Mutation_p.P320Q|ZNF41_uc004dhy.3_Missense_Mutation_p.P318Q|ZNF41_uc004dhx.3_Missense_Mutation_p.P318Q|ZNF41_uc011mlm.1_Missense_Mutation_p.P232Q NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 360 C2H2-type 2; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) ATAAACACTTGGATGTACATC 0.413 63 217 --- --- --- --- PASS SSX1 6756 broad.mit.edu 37 X 48116705 48116705 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:48116705G>T uc004djb.1 + 2 120 c.29G>T c.(28-30)AGA>ATA p.R10I NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 TTTGCAAAGAGACCCAGGGAT 0.547 7 84 --- --- --- --- PASS SSX3 10214 broad.mit.edu 37 X 48207011 48207011 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:48207011G>T uc004djd.1 - 7 589 c.495C>A c.(493-495)ACC>ACA p.T165T NM_021014 NP_066294 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 isoform a 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 GCAGTCTGTGGGTCCAGGCAT 0.478 86 500 --- --- --- --- PASS PRAF2 11230 broad.mit.edu 37 X 48931479 48931479 + Silent SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:48931479G>C uc004dmi.2 - 1 184 c.168C>G c.(166-168)CTC>CTG p.L56L PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron NM_007213 NP_009144 O60831 PRAF2_HUMAN PRA1 domain family, member 2 56 Helical; (Potential). L-glutamate transport|protein transport endosome membrane|integral to membrane 0 CGGCGAGAGCGAGGCCGATGC 0.647 10 66 --- --- --- --- PASS PRICKLE3 4007 broad.mit.edu 37 X 49034343 49034343 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:49034343G>A uc004dmy.1 - 7 980 c.954C>T c.(952-954)ATC>ATT p.I318I PRICKLE3_uc011mmv.1_Silent_p.I250I|PRICKLE3_uc011mmw.1_Silent_p.I237I|PRICKLE3_uc011mmx.1_Silent_p.I280I|PRICKLE3_uc011mmy.1_Silent_p.I305I NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 318 LIM zinc-binding 3. protein binding|zinc ion binding breast(1) 1 TTCACCCACCGATGTGCTCCC 0.652 27 37 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49086835 49086835 + Splice_Site SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:49086835C>A uc004dnb.2 - 6 727 c.665_splice c.e6-1 p.S222_splice CACNA1F_uc010nip.2_Splice_Site_p.S222_splice NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) ATGTGCAGGCCTGCGGGGAGG 0.607 5 30 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50051880 50051880 + Silent SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:50051880A>C uc004dox.3 + 6 1009 c.711A>C c.(709-711)GCA>GCC p.A237A CCNB3_uc004doy.2_Silent_p.A237A|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 237 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AGATGTGTGCAAGTCAGCGGA 0.423 17 129 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53574675 53574675 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:53574675G>T uc004dsp.2 - 68 10997 c.10595C>A c.(10594-10596)ACC>AAC p.T3532N HUWE1_uc004dsn.2_Missense_Mutation_p.T2340N|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3532 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGTCACTGTGGTCGAAGCAGC 0.547 7 41 --- --- --- --- PASS USP51 158880 broad.mit.edu 37 X 55513251 55513251 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:55513251G>T uc004dun.1 - 2 2201 c.2122C>A c.(2122-2124)CTA>ATA p.L708I USP51_uc011moo.1_Missense_Mutation_p.L412I NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 708 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TCTTTCTCTAGACCCTGTTTG 0.418 19 142 --- --- --- --- PASS UBQLN2 29978 broad.mit.edu 37 X 56590724 56590724 + Missense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:56590724A>T uc004dus.2 + 1 653 c.418A>T c.(418-420)AGC>TGC p.S140C UBQLN2_uc011moq.1_Missense_Mutation_p.S140C NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 140 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 TTCCACAAATAGCAACCCGTT 0.592 9 44 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65476119 65476119 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:65476119C>G uc011moz.1 + 17 2912 c.2852C>G c.(2851-2853)CCA>CGA p.P951R HEPH_uc004dwn.2_Missense_Mutation_p.P951R|HEPH_uc004dwo.2_Missense_Mutation_p.P681R|HEPH_uc010nkr.2_Missense_Mutation_p.P759R|HEPH_uc011mpa.1_Missense_Mutation_p.P951R|HEPH_uc010nks.2_Missense_Mutation_p.P240R NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 948 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TCCCAGGATCCAGGCAGTATT 0.408 21 118 --- --- --- --- PASS FOXO4 4303 broad.mit.edu 37 X 70316676 70316676 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:70316676G>T uc004dys.1 + 1 651 c.298G>T c.(298-300)GCC>TCC p.A100S FOXO4_uc010nkz.2_Missense_Mutation_p.A100S|FOXO4_uc004dyt.1_Intron NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 100 Fork-head. cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) CCGCCGGAATGCCTGGGGAAA 0.637 4 19 --- --- --- --- PASS NLGN3 54413 broad.mit.edu 37 X 70389919 70389919 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:70389919C>A uc004dzb.2 + 7 2763 c.2459C>A c.(2458-2460)CCC>CAC p.P820H NLGN3_uc004dzc.2_Missense_Mutation_p.P703H|NLGN3_uc011mps.1_Missense_Mutation_p.P800H|NLGN3_uc004dze.2_Missense_Mutation_p.P638H NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 840 Cytoplasmic (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) ACCGGGCTGCCCCACTCACAC 0.527 8 36 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70472962 70472962 + Silent SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:70472962A>T uc004dzh.1 - 2 231 c.144T>A c.(142-144)CCT>CCA p.P48P BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.P48P|ZMYM3_uc004dzj.1_Silent_p.P48P|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Silent_p.P48P|ZMYM3_uc004dzl.3_Silent_p.P48P|ZMYM3_uc004dzm.3_Silent_p.P48P NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 48 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GAGAAGGGCCAGGGGGGGCCC 0.607 OREG0019858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 21 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70603813 70603813 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:70603813T>C uc004dzu.3 + 13 1997 c.1946T>C c.(1945-1947)ATG>ACG p.M649T BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M670T NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 649 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TCTGGACAGATGAGAGAACAA 0.428 31 169 --- --- --- --- PASS ERCC6L 54821 broad.mit.edu 37 X 71425039 71425039 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:71425039G>C uc004eaq.1 - 2 3675 c.3578C>G c.(3577-3579)GCG>GGG p.A1193G PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.A1070G NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 1193 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) AGCCTCTGCCGCCTTATCCTG 0.473 12 96 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73960135 73960135 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:73960135G>T uc004eby.2 - 3 4874 c.4257C>A c.(4255-4257)AAC>AAA p.N1419K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1419 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GAGAGTCCTCGTTATAACCAG 0.428 56 255 --- --- --- --- PASS PGK1 5230 broad.mit.edu 37 X 77373610 77373610 + Missense_Mutation SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:77373610A>G uc004ecz.3 + 6 756 c.584A>G c.(583-585)AAC>AGC p.N195S PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.N167S NM_000291 NP_000282 P00558 PGK1_HUMAN phosphoglycerate kinase 1 195 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity upper_aerodigestive_tract(1)|ovary(1) 2 AAGGAGCTGAACTACTTTGCA 0.468 42 263 --- --- --- --- PASS DIAPH2 1730 broad.mit.edu 37 X 96396771 96396771 + Silent SNP A G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:96396771A>G uc004efu.3 + 22 3093 c.2697A>G c.(2695-2697)GAA>GAG p.E899E DIAPH2_uc004eft.3_Silent_p.E899E NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 899 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 AAGAACTGGAACACGTAGAAA 0.318 14 91 --- --- --- --- PASS XKRX 402415 broad.mit.edu 37 X 100169714 100169714 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:100169714G>T uc004egn.2 - 3 1568 c.963C>A c.(961-963)GGC>GGA p.G321G XKRX_uc011mre.1_Silent_p.G117G NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 321 Helical; (Potential). integral to membrane|plasma membrane breast(1) 1 AGAAGTTGATGCCAGCATAGA 0.517 73 306 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101909873 101909873 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:101909873G>A uc004ejj.3 + 5 1833 c.1032G>A c.(1030-1032)ATG>ATA p.M344I GPRASP1_uc004eji.3_Missense_Mutation_p.M344I|GPRASP1_uc010nod.2_Missense_Mutation_p.M344I NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 344 cytoplasm protein binding ovary(1)|lung(1) 2 TTGATTTCATGCCTGGGTCTA 0.478 40 210 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107978980 107978980 + Missense_Mutation SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:107978980G>A uc004eoc.2 - 1 628 c.595C>T c.(595-597)CTC>TTC p.L199F NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 199 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TTGCTCTCGAGGATGAGGCGG 0.662 5 9 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686050 125686050 + Missense_Mutation SNP G C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:125686050G>C uc004eul.2 - 1 793 c.542C>G c.(541-543)TCC>TGC p.S181C NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 181 WD 1. skin(3)|ovary(1) 4 GGGATCCAGGGAGGGCAGCTG 0.667 8 36 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128709990 128709990 + Silent SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:128709990C>T uc004euq.2 + 17 1995 c.1830C>T c.(1828-1830)TAC>TAT p.Y610Y OCRL_uc004eur.2_Silent_p.Y610Y NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 610 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 ACAGCCAGTACTGCAAGCCAT 0.468 6 272 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128722174 128722174 + Missense_Mutation SNP C T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:128722174C>T uc004euq.2 + 21 2440 c.2275C>T c.(2275-2277)CCT>TCT p.P759S OCRL_uc004eur.2_Missense_Mutation_p.P751S|OCRL_uc010nrb.2_5'Flank NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 759 Rho-GAP. 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 GTTCCAGACCCCTGGAATGCA 0.473 16 139 --- --- --- --- PASS MIR18B 574033 broad.mit.edu 37 X 133304101 133304101 + RNA SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:133304101C>A hsa-mir-18b|MI0001518 - c.41C>A MIR363_hsa-mir-363|MI0000764_5'Flank|MIR92A2_hsa-mir-92a-2|MI0000094_5'Flank|uc004exf.2_5'Flank|uc011mvi.1_5'Flank|MIR19B2_hsa-mir-19b-2|MI0000075_5'Flank|MIR20B_hsa-mir-20b|MI0001519_5'Flank 0 GCAGTAGATTCTAAGCTGCTT 0.388 4 104 --- --- --- --- PASS FAM127C 441518 broad.mit.edu 37 X 134156424 134156424 + Silent SNP G A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:134156424G>A uc004eyc.1 - 1 143 c.66C>T c.(64-66)CGC>CGT p.R22R NM_001078173 NP_001071641 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 22 0 Acute lymphoblastic leukemia(192;0.000127) GGTTCCTCCAGCGACGCGCCG 0.647 17 119 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135443706 135443706 + Nonsense_Mutation SNP A T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:135443706A>T uc004ezu.1 + 12 7528 c.7237A>T c.(7237-7239)AGA>TGA p.R2413* GPR112_uc010nsb.1_Nonsense_Mutation_p.R2208*|GPR112_uc010nsc.1_Nonsense_Mutation_p.R2041* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2413 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGCCCAAACCAGATGCATAAA 0.418 10 127 --- --- --- --- PASS CD40LG 959 broad.mit.edu 37 X 135738538 135738538 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:135738538G>T uc004faa.2 + 4 442 c.370G>T c.(370-372)GCA>TCA p.A124S CD40LG_uc010nsd.2_Intron|CD40LG_uc010nse.1_RNA NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 124 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) TCAAATTGCGGCACATGTCAT 0.463 Immune_Deficiency_with_Hyper-IgM 27 140 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138644099 138644099 + Missense_Mutation SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:138644099G>T uc004fas.1 + 8 1284 c.1255G>T c.(1255-1257)GTG>TTG p.V419L F9_uc004fat.1_Missense_Mutation_p.V381L NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 419 Peptidase S1. V -> E (in HEMB; moderately severe). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGTTACTGAAGTGGAAGGGAC 0.428 79 128 --- --- --- --- PASS ATP11C 286410 broad.mit.edu 37 X 138870478 138870478 + Missense_Mutation SNP C A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:138870478C>A uc004faz.2 - 14 1501 c.1402G>T c.(1402-1404)GCC>TCC p.A468S ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A468S NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 468 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) AAACACAAGGCACGTAGAAAC 0.373 26 147 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141291463 141291463 + Missense_Mutation SNP C G G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:141291463C>G uc004fbu.1 - 3 659 c.311G>C c.(310-312)TGC>TCC p.C104S NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 104 Ser-rich. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AAAAGAGGAGCAGCAGGAGCT 0.428 HNSCC(46;0.14) 25 117 --- --- --- --- PASS MIR888 100126306 broad.mit.edu 37 X 145076308 145076308 + RNA SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:145076308T>A hsa-mir-888|MI0005537 - c.71T>A MIR890_hsa-mir-890|MI0005533_5'Flank 0 TTGGTGAGCCTTCCTTCACCC 0.498 9 57 --- --- --- --- PASS FMR1 2332 broad.mit.edu 37 X 147009842 147009842 + Silent SNP G T T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:147009842G>T uc010nst.2 + 4 390 c.201G>T c.(199-201)GTG>GTT p.V67V FMR1_uc011mwz.1_Silent_p.V67V|FMR1_uc004fcj.2_Silent_p.V67V|FMR1_uc004fck.3_Silent_p.V67V|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 67 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTGTGTAGGTGTATTCCAGAG 0.323 Fragile_X_syndrome 59 281 --- --- --- --- PASS PNMA5 114824 broad.mit.edu 37 X 152159451 152159451 + Missense_Mutation SNP A C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:152159451A>C uc010ntw.2 - 3 1031 c.692T>G c.(691-693)CTA>CGA p.L231R PNMA5_uc004fha.3_Missense_Mutation_p.L231R|PNMA5_uc010ntx.2_Missense_Mutation_p.L231R|PNMA5_uc004fgy.3_Missense_Mutation_p.L231R NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 231 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GATCTGCTTTAGGGCGTCAAG 0.522 23 175 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153596279 153596279 + Missense_Mutation SNP T C C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:153596279T>C uc004fkk.2 - 3 802 c.553A>G c.(553-555)ATC>GTC p.I185V FLNA_uc010nuu.1_Missense_Mutation_p.I185V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 185 CH 2.|Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 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) AAGTTGGTGATGGGCAGCTGC 0.682 4 51 --- --- --- --- PASS G6PD 2539 broad.mit.edu 37 X 153774349 153774349 + Missense_Mutation SNP T A A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chrX:153774349T>A uc004fly.1 - 2 135 c.22A>T c.(22-24)AGC>TGC p.S8C G6PD_uc004flx.1_Missense_Mutation_p.S38C|IKBKG_uc011mzr.1_Intron|IKBKG_uc010nva.2_5'Flank|IKBKG_uc004fmb.3_5'Flank|IKBKG_uc011mzs.1_5'Flank|IKBKG_uc004fma.3_5'Flank|IKBKG_uc004fmc.3_5'Flank|IKBKG_uc004fmd.2_5'Flank NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 8 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGTCCGGCTCAGGGCCACC 0.547 46 225 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113301700 113301700 + Frame_Shift_Del DEL C - - TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 7ce90b30-d372-4edb-9807-b71cb5eb4cb7 0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba g.chr8:113301700delC uc003ynu.2 - 57 9201 c.9042delG c.(9040-9042)GGGfs p.G3014fs CSMD3_uc003yns.2_Frame_Shift_Del_p.G2216fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.G2974fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.G2845fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3014 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAACAGTAGACCCAAAAGTAT 0.418 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 128 82 --- --- --- ---