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 NADK 65220 broad.mit.edu 37 1 1696810 1696810 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:1696810C>A uc009vkw.2 - 2 157 c.36G>T c.(34-36)AAG>AAT p.K12N NADK_uc001aic.2_Missense_Mutation_p.K12N|NADK_uc001aid.3_Missense_Mutation_p.K12N|NADK_uc001aie.2_Missense_Mutation_p.K12N|NADK_uc009vkx.1_Translation_Start_Site NM_023018 NP_075394 O95544 NADK_HUMAN NAD kinase 12 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding 0 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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GACTCAATTCCTTATTCATGG 0.463 11 47 --- --- --- --- PASS PLCH2 9651 broad.mit.edu 37 1 2415982 2415982 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:2415982C>A uc001aji.1 + 5 1015 c.741C>A c.(739-741)CTC>CTA p.L247L PLCH2_uc010nyz.1_Silent_p.L35L|PLCH2_uc009vle.1_Silent_p.L35L|PLCH2_uc001ajj.1_Silent_p.L35L|PLCH2_uc001ajk.1_Silent_p.L35L NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 247 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TCTACCTGCTCATGCTGACCT 0.607 6 34 --- --- --- --- PASS PLCH2 9651 broad.mit.edu 37 1 2421253 2421253 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:2421253G>A uc001aji.1 + 10 1736 c.1462G>A c.(1462-1464)GAT>AAT p.D488N PLCH2_uc010nyz.1_Missense_Mutation_p.D276N|PLCH2_uc009vle.1_Missense_Mutation_p.D276N|PLCH2_uc001ajj.1_Missense_Mutation_p.D276N|PLCH2_uc001ajk.1_Missense_Mutation_p.D276N NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 488 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CGAGGTGTCTGATGAGGACAG 0.612 19 80 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7812544 7812544 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:7812544G>C uc001aoi.2 + 21 5116 c.4909G>C c.(4909-4911)GAT>CAT p.D1637H CAMTA1_uc001aok.3_Missense_Mutation_p.D680H|CAMTA1_uc001aoj.2_Missense_Mutation_p.D600H|CAMTA1_uc009vmf.2_Missense_Mutation_p.D227H NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1637 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CAAAAAGCAGGATCAAGCTGC 0.423 9 56 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12343540 12343540 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:12343540A>G uc001atv.2 + 21 5522 c.5381A>G c.(5380-5382)AAG>AGG p.K1794R VPS13D_uc001atw.2_Missense_Mutation_p.K1794R|VPS13D_uc001atx.2_Missense_Mutation_p.K982R NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1794 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGGTAGATAAGAAACATCCA 0.408 28 132 --- --- --- --- PASS CASP9 842 broad.mit.edu 37 1 15844829 15844829 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:15844829C>G uc001awn.2 - 2 289 c.194G>C c.(193-195)CGA>CCA p.R65P CASP9_uc001awm.1_Missense_Mutation_p.R65P|CASP9_uc001awo.2_Missense_Mutation_p.R65P|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 65 CARD. activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CTGACTCCCTCGAGTCTCCAG 0.527 4 115 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17250858 17250858 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:17250858C>T uc001azt.2 + 3 304 c.235C>T c.(235-237)CTG>TTG p.L79L CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 79 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCTGCTGTCGCTGCAGGAGGA 0.642 4 22 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17279892 17279892 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:17279892G>C uc001azt.2 + 21 3171 c.3102G>C c.(3100-3102)GAG>GAC p.E1034D CROCC_uc009voz.1_Missense_Mutation_p.E633D|CROCC_uc001azu.2_Missense_Mutation_p.E337D NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1034 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGGAGGCTGAGAAGGAAGAGC 0.667 3 20 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17552530 17552530 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:17552530C>A uc001bah.1 + 6 621 c.529C>A c.(529-531)CTG>ATG p.L177M NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 177 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CTCTCCAGACCTGCAGGACAT 0.562 18 86 --- --- --- --- PASS ACTL8 81569 broad.mit.edu 37 1 18152600 18152600 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:18152600G>C uc001bat.2 + 3 903 c.687G>C c.(685-687)CAG>CAC p.Q229H NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 229 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) AGAGGCAGCAGAGTGCCTTGG 0.607 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 65 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22214545 22214545 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:22214545T>C uc001bfj.2 - 7 629 c.589A>G c.(589-591)AGA>GGA p.R197G HSPG2_uc009vqd.2_Missense_Mutation_p.R197G|HSPG2_uc009vqe.1_Silent_p.Q95Q NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 197 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) GTGCAGGCTCTTGGGAACTGG 0.632 8 47 --- --- --- --- PASS CDC42 998 broad.mit.edu 37 1 22413036 22413036 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:22413036G>C uc001bfq.2 + 5 575 c.283G>C c.(283-285)GAA>CAA p.E95Q CDC42_uc009vqg.1_Missense_Mutation_p.E95Q|CDC42_uc001bfp.2_Missense_Mutation_p.E95Q|CDC42_uc001bfr.2_Missense_Mutation_p.E95Q|CDC42_uc010odr.1_Missense_Mutation_p.E140Q|CDC42_uc010ods.1_Missense_Mutation_p.E137Q|CDC42_uc009vqh.2_Missense_Mutation_p.E54Q NM_001039802 NP_001034891 P60953 CDC42_HUMAN cell division cycle 42 isoform 1 95 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding haematopoietic_and_lymphoid_tissue(1) 1 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) AAACGTGAAAGAAAAGGTAAG 0.373 25 99 --- --- --- --- PASS NIPAL3 57185 broad.mit.edu 37 1 24795600 24795600 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:24795600C>A uc001bjh.2 + 12 1553 c.1146C>A c.(1144-1146)GTC>GTA p.V382V NIPAL3_uc009vrc.2_Silent_p.V300V NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 382 integral to membrane 0 CCCTGCCAGTCATGCAAGAAG 0.507 17 77 --- --- --- --- PASS MAN1C1 57134 broad.mit.edu 37 1 26085168 26085168 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:26085168G>A uc001bkm.2 + 6 1345 c.1015G>A c.(1015-1017)GAA>AAA p.E339K MAN1C1_uc009vry.1_Missense_Mutation_p.E159K NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 339 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) ACACCTCACTGAACTCTCTGG 0.577 15 116 --- --- --- --- PASS MAP3K6 9064 broad.mit.edu 37 1 27682180 27682180 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:27682180G>T uc001bny.1 - 28 4017 c.3768C>A c.(3766-3768)GAC>GAA p.D1256E MAP3K6_uc009vsw.1_Missense_Mutation_p.D1248E NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1256 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGTAGATGAGGTCATCTCGAG 0.532 14 118 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29638003 29638003 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:29638003A>G uc001bru.2 + 21 3033 c.2923A>G c.(2923-2925)ATG>GTG p.M975V PTPRU_uc001brv.2_Missense_Mutation_p.M971V|PTPRU_uc001brw.2_Missense_Mutation_p.M965V|PTPRU_uc009vtq.2_Missense_Mutation_p.M971V|PTPRU_uc009vtr.2_Missense_Mutation_p.M965V NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 975 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTTCTGGCGTATGGTGTGGCA 0.627 11 33 --- --- --- --- PASS GJB3 2707 broad.mit.edu 37 1 35250801 35250801 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:35250801C>G uc001bxx.2 + 2 1053 c.438C>G c.(436-438)CTC>CTG p.L146L GJB3_uc001bxy.2_Silent_p.L146L|GJB3_uc001bxz.3_Silent_p.L146L|uc010ohs.1_Intron NM_024009 NP_076872 O75712 CXB3_HUMAN connexin 31 146 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TCCTCTTCCTCTACCTGCTGC 0.582 32 99 --- --- --- --- PASS NCDN 23154 broad.mit.edu 37 1 36026776 36026776 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:36026776G>C uc001bza.2 + 4 1151 c.1024G>C c.(1024-1026)GAG>CAG p.E342Q NCDN_uc001bzb.2_Missense_Mutation_p.E342Q|NCDN_uc001bzc.2_Missense_Mutation_p.E325Q NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 342 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGCCCTCATGGAGTTGGGGAT 0.602 5 10 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36935300 36935300 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:36935300G>A uc001caw.1 - 11 1605 c.1427C>T c.(1426-1428)ACC>ATC p.T476I CSF3R_uc001cat.1_Missense_Mutation_p.T39I|CSF3R_uc009vvc.1_Missense_Mutation_p.T39I|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.T476I|CSF3R_uc001cax.1_Missense_Mutation_p.T476I|CSF3R_uc001cay.1_Missense_Mutation_p.T476I NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 476 Extracellular (Potential).|Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CATCCTCCAGGTCTTGTTGCT 0.627 27 181 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39903536 39903536 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:39903536G>C uc010oiu.1 + 36 13536 c.13405G>C c.(13405-13407)GAC>CAC p.D4469H MACF1_uc010ois.1_Missense_Mutation_p.D3967H NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGCTGAAGTAGACAAGATCAG 0.478 53 455 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39914334 39914334 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:39914334G>A uc010oiu.1 + 49 15617 c.15486G>A c.(15484-15486)CTG>CTA p.L5162L MACF1_uc010ois.1_Silent_p.L4660L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 6728 Spectrin 16. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCAGAGCACTGAAAGAAAAGA 0.418 20 278 --- --- --- --- PASS COL9A2 1298 broad.mit.edu 37 1 40777372 40777372 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:40777372C>T uc001cfh.1 - 9 503 c.433G>A c.(433-435)GAT>AAT p.D145N COL9A2_uc001cfi.1_5'UTR NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 145 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GATGGTCCATCTGGTCCAGGG 0.607 29 294 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44422280 44422280 + Silent SNP C A A rs143861524 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:44422280C>A uc001ckx.2 + 4 1806 c.1011C>A c.(1009-1011)GTC>GTA p.V337V NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 337 HEAT 5. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGGCACTCGTCAACATGATTA 0.542 33 241 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45484142 45484142 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:45484142C>T uc001cnd.2 - 14 3770 c.3542G>A c.(3541-3543)CGA>CAA p.R1181Q NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 1181 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) AAAGCGCTCTCGCACCAGCAG 0.542 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 286 --- --- --- --- PASS NASP 4678 broad.mit.edu 37 1 46073007 46073007 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:46073007G>C uc001coi.1 + 6 526 c.424G>C c.(424-426)GAG>CAG p.E142Q NASP_uc010olq.1_Missense_Mutation_p.E105Q|NASP_uc001coh.1_Missense_Mutation_p.E144Q|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.E78Q|NASP_uc001cok.1_Missense_Mutation_p.E25Q NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 142 Potential.|Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) AGCAAGGGAAGAGTTGAGAGA 0.368 8 81 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46489559 46489559 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:46489559A>T uc001cov.2 + 15 1970 c.1687A>T c.(1687-1689)ATA>TTA p.I563L MAST2_uc001cow.2_Missense_Mutation_p.I563L|MAST2_uc001coy.1_Missense_Mutation_p.I237L|MAST2_uc001coz.1_Missense_Mutation_p.I448L|MAST2_uc009vya.2_Missense_Mutation_p.I485L|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 563 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GGAGCGTGACATACTGACTTT 0.532 31 91 --- --- --- --- PASS EPS15 2060 broad.mit.edu 37 1 51822469 51822469 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:51822469C>T uc001csq.1 - 25 2686 c.2594G>A c.(2593-2595)AGA>AAA p.R865K EPS15_uc009vyz.1_Missense_Mutation_p.R731K|EPS15_uc001csp.3_Missense_Mutation_p.R551K NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 865 UIM 1. 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 CTCTTCCTCTCTCTCACTTTC 0.413 T MLL ALL 22 156 --- --- --- --- PASS ZYG11B 79699 broad.mit.edu 37 1 53262027 53262027 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:53262027G>C uc001cuj.2 + 7 1593 c.1398G>C c.(1396-1398)AGG>AGC p.R466S ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.R457S|ZYG11B_uc009vzh.2_5'Flank NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 466 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 ACATGCAAAGGATGGCAGTTG 0.418 4 130 --- --- --- --- PASS SLC1A7 6512 broad.mit.edu 37 1 53554633 53554633 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:53554633C>A uc001cuy.2 - 10 1548 c.1380G>T c.(1378-1380)ATG>ATT p.M460I SLC1A7_uc001cux.2_Missense_Mutation_p.M113I NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 460 Helical; (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCACGTTAATCATGGTGCGGA 0.592 7 99 --- --- --- --- PASS TTC4 7268 broad.mit.edu 37 1 55194063 55194063 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:55194063G>C uc001cxx.3 + 6 692 c.639G>C c.(637-639)AAG>AAC p.K213N C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.K213N|TTC4_uc001cxv.2_Missense_Mutation_p.K224N NM_004623 NP_004614 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 213 binding 0 TGAAAGAAAAGAAGGAGAGGA 0.418 15 53 --- --- --- --- PASS TMEM61 199964 broad.mit.edu 37 1 55457683 55457683 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:55457683C>G uc001cyd.2 + 3 814 c.540C>G c.(538-540)ATC>ATG p.I180M NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN transmembrane protein 61 180 integral to membrane 0 ATGAGAGCATCAGCCTTGCTC 0.622 6 243 --- --- --- --- PASS DAB1 1600 broad.mit.edu 37 1 57480785 57480785 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:57480785C>G uc001cys.1 - 14 1889 c.1215G>C c.(1213-1215)AAG>AAC p.K405N DAB1_uc001cyt.1_Missense_Mutation_p.K403N|DAB1_uc001cyq.1_Missense_Mutation_p.K403N|DAB1_uc001cyr.1_Missense_Mutation_p.K319N|DAB1_uc009vzw.1_Missense_Mutation_p.K387N|DAB1_uc009vzx.1_Missense_Mutation_p.K405N NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 438 cell differentiation|nervous system development skin(2)|ovary(1) 3 TCTGCCTGGGCTTGTCGGTCT 0.602 22 157 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62739549 62739549 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:62739549C>G uc001dah.3 - 3 1604 c.1227G>C c.(1225-1227)CAG>CAC p.Q409H KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 409 ovary(3)|skin(2)|lung(1) 6 TCACGTCCGTCTGGCCCTGAG 0.512 54 351 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 62960018 62960018 + Silent SNP T G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:62960018T>G uc001daq.2 - 40 5152 c.5118A>C c.(5116-5118)GCA>GCC p.A1706A DOCK7_uc001dan.2_Silent_p.A1567A|DOCK7_uc001dao.2_Silent_p.A1567A|DOCK7_uc001dap.2_Silent_p.A1684A|DOCK7_uc001dam.2_Silent_p.A886A|DOCK7_uc010oov.1_Silent_p.A445A NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1715 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CAACAAGTGCTGCTGAGTGGA 0.468 55 87 --- --- --- --- PASS CACHD1 57685 broad.mit.edu 37 1 65130343 65130343 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:65130343G>C uc001dbo.1 + 15 2209 c.2104G>C c.(2104-2106)GAT>CAT p.D702H CACHD1_uc001dbp.1_Missense_Mutation_p.D457H|CACHD1_uc001dbq.1_Missense_Mutation_p.D457H|CACHD1_uc010opa.1_5'Flank NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 753 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 CAAAGCATTTGATCCCACTAG 0.453 38 282 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67109381 67109381 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:67109381C>A uc001dcr.2 + 7 655 c.438C>A c.(436-438)ATC>ATA p.I146I SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 146 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 TAGGCAACATCGCACTTTCCC 0.378 40 381 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70482164 70482164 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:70482164T>C uc001dep.2 + 12 1183 c.1153T>C c.(1153-1155)TTC>CTC p.F385L LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 385 LRR 16. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GAATTTACCATTCTCATTTAC 0.254 23 163 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74834918 74834918 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:74834918G>T uc001dgf.1 + 15 1493 c.1442G>T c.(1441-1443)CGA>CTA p.R481L TNNI3K_uc001dgc.1_Missense_Mutation_p.R582L|TNNI3K_uc001dgd.2_Missense_Mutation_p.R582L|TNNI3K_uc001dge.1_Missense_Mutation_p.R582L NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 481 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 TATAAAGGACGATGCAGAAAT 0.313 7 132 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 75005943 75005943 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:75005943C>A uc001dgf.1 + 24 2428 c.2377C>A c.(2377-2379)CTG>ATG p.L793M TNNI3K_uc001dge.1_Missense_Mutation_p.L894M NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 793 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 CTCTCAAGGTCTGTCTTTGGA 0.348 110 94 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75036851 75036851 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:75036851G>T uc001dgg.2 - 14 4762 c.4543C>A c.(4543-4545)CAA>AAA p.Q1515K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1515 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTTCTCCTTGCACCATATGC 0.502 311 278 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75097467 75097467 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:75097467G>T uc001dgg.2 - 7 968 c.749C>A c.(748-750)TCT>TAT p.S250Y C1orf173_uc001dgi.3_Missense_Mutation_p.S44Y NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 250 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCATGTTTCAGATCTATTTTC 0.373 34 284 --- --- --- --- PASS CRYZ 1429 broad.mit.edu 37 1 75185054 75185054 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:75185054T>A uc001dgk.2 - 5 772 c.267A>T c.(265-267)AAA>AAT p.K89N CRYZ_uc001dgj.2_Missense_Mutation_p.K89N|CRYZ_uc001dgl.2_Missense_Mutation_p.K89N|CRYZ_uc001dgm.2_Intron NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 89 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) CTCTGTCACCTTTCTAGGGGA 0.373 12 95 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75602794 75602794 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:75602794G>A uc001dgo.2 + 4 779 c.115G>A c.(115-117)GAG>AAG p.E39K LHX8_uc001dgq.2_5'UTR NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 39 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GGTGAGCCCCGAGGGAGCGGG 0.731 8 94 --- --- --- --- PASS ST6GALNAC5 81849 broad.mit.edu 37 1 77510165 77510165 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:77510165G>C uc001dhi.2 + 3 713 c.538G>C c.(538-540)GAC>CAC p.D180H ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 180 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 CATGCGGCGGGACGGCAAGGG 0.602 24 147 --- --- --- --- PASS PRKACB 5567 broad.mit.edu 37 1 84700929 84700929 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:84700929G>A uc001djj.2 + 10 1261 c.997G>A c.(997-999)GAA>AAA p.E333K PRKACB_uc001djl.2_Missense_Mutation_p.E380K|PRKACB_uc010ort.1_Missense_Mutation_p.E340K|PRKACB_uc001djn.2_Missense_Mutation_p.E337K|PRKACB_uc010oru.1_Missense_Mutation_p.E321K|PRKACB_uc001djp.2_Missense_Mutation_p.E339K|PRKACB_uc001djq.2_Missense_Mutation_p.E303K|PRKACB_uc010orv.1_Missense_Mutation_p.E320K NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 333 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TGACTATGAAGAAGAAGATAT 0.368 19 159 --- --- --- --- PASS SYDE2 84144 broad.mit.edu 37 1 85624809 85624809 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:85624809G>C uc009wcm.2 - 7 3258 c.3209C>G c.(3208-3210)TCA>TGA p.S1070* NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1070 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) AAGTACTCCTGATGAATCAGT 0.408 10 331 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86374306 86374306 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:86374306C>T uc001dlj.2 - 27 2741 c.2699G>A c.(2698-2700)GGA>GAA p.G900E COL24A1_uc001dli.2_Missense_Mutation_p.G36E|COL24A1_uc010osd.1_Missense_Mutation_p.G200E|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 900 Collagen-like 7. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ACCGATAGGTCCTGGAACCCC 0.328 3 28 --- --- --- --- PASS CLCA2 9635 broad.mit.edu 37 1 86907182 86907182 + Nonsense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:86907182A>T uc001dlr.3 + 9 1606 c.1444A>T c.(1444-1446)AGA>TGA p.R482* NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 482 VWFA.|Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TGCTTTCAGTAGAATTTCCTC 0.378 7 92 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89652147 89652147 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:89652147C>A uc001dnb.2 - 10 1692 c.1576G>T c.(1576-1578)GAG>TAG p.E526* NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 526 Potential. cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TGCTGCTGCTCCTTCTGTTTT 0.478 16 77 --- --- --- --- PASS GBP5 115362 broad.mit.edu 37 1 89729533 89729533 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:89729533T>C uc001dnc.2 - 9 1785 c.1248A>G c.(1246-1248)CTA>CTG p.L416L GBP5_uc001dnd.2_Silent_p.L416L|GBP5_uc001dne.1_Silent_p.L416L NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 416 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) CTGCTTCTTCTAGAGGACCAA 0.418 74 392 --- --- --- --- PASS GLMN 11146 broad.mit.edu 37 1 92737089 92737089 + Missense_Mutation SNP T C C rs139743855 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:92737089T>C uc001dor.2 - 8 971 c.856A>G c.(856-858)ATG>GTG p.M286V GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.M286V NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 286 Potential. muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) AGAGAAGCCATTGAGTCTGCT 0.353 Multiple_Glomus_Tumors_(of_the_Skin)_Familial 26 185 --- --- --- --- PASS DBT 1629 broad.mit.edu 37 1 100671853 100671853 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:100671853C>G uc001dta.2 - 10 1247 c.1214G>C c.(1213-1215)GGT>GCT p.G405A DBT_uc010oug.1_Missense_Mutation_p.G224A NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 405 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AAAGGTACCACCAATCtattt 0.323 16 51 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103364285 103364285 + Silent SNP G C C rs112577505 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:103364285G>C uc001dul.2 - 56 4503 c.4185C>G c.(4183-4185)GTC>GTG p.V1395V COL11A1_uc001duk.2_Silent_p.V591V|COL11A1_uc001dum.2_Silent_p.V1407V|COL11A1_uc001dun.2_Silent_p.V1356V|COL11A1_uc009weh.2_Silent_p.V1279V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1395 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGAGGACCGACTGGGCCGG 0.473 14 87 --- --- --- --- PASS C1orf59 113802 broad.mit.edu 37 1 109197375 109197375 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:109197375G>A uc001dvt.3 - 5 599 c.361C>T c.(361-363)CGT>TGT p.R121C C1orf59_uc001dvu.3_Missense_Mutation_p.R121C|C1orf59_uc009wer.2_Missense_Mutation_p.R121C NM_001102592 NP_001096062 Q5T8I9 HENMT_HUMAN hypothetical protein LOC113802 121 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163) CCAAGCAAACGAGAGTCTCTC 0.403 20 65 --- --- --- --- PASS AKNAD1 254268 broad.mit.edu 37 1 109391602 109391602 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:109391602G>C uc001dwa.2 - 4 1383 c.1114C>G c.(1114-1116)CAA>GAA p.Q372E AKNAD1_uc010ovb.1_Missense_Mutation_p.Q79E|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 372 Potential. ovary(3) 3 GATATCTTTTGAAATATGTAA 0.343 13 225 --- --- --- --- PASS AMIGO1 57463 broad.mit.edu 37 1 110050902 110050902 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:110050902C>A uc001dxx.3 - 2 1015 c.633G>T c.(631-633)TGG>TGT p.W211C NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN AMIGO protein precursor 211 Extracellular (Potential). axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane ovary(1)|breast(1) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CATTCTTGATCCAGGCCGGCA 0.527 33 168 --- --- --- --- PASS GSTM4 2948 broad.mit.edu 37 1 110201676 110201676 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:110201676G>C uc001dyf.2 + 7 825 c.511G>C c.(511-513)GAG>CAG p.E171Q GSTM4_uc001dyg.2_Missense_Mutation_p.E67Q|GSTM4_uc009wfj.2_Missense_Mutation_p.E110Q|GSTM4_uc001dyh.2_Missense_Mutation_p.E171Q|GSTM2_uc001dyi.2_Intron NM_000850 NP_000841 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 isoform 1 171 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) CCGTATATTTGAGCCCAACTG 0.502 122 623 --- --- --- --- PASS SLC16A4 9122 broad.mit.edu 37 1 110925519 110925519 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:110925519C>T uc001dzo.1 - 3 339 c.157G>A c.(157-159)GAA>AAA p.E53K SLC16A4_uc009wfs.1_Missense_Mutation_p.E53K|SLC16A4_uc001dzp.1_Missense_Mutation_p.E53K|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron NM_004696 NP_004687 O15374 MOT5_HUMAN solute carrier family 16, member 4 53 Extracellular (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity ovary(3) 3 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GAGGTGCCTTCAAACTCTTCT 0.418 28 128 --- --- --- --- PASS HIPK1 204851 broad.mit.edu 37 1 114483936 114483936 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:114483936C>T uc001eem.2 + 2 1092 c.931C>T c.(931-933)CTG>TTG p.L311L HIPK1_uc001eel.2_Silent_p.L311L|HIPK1_uc001een.2_Silent_p.L311L NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 311 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTCTTGGTCTGATCCACGC 0.478 31 177 --- --- --- --- PASS C1orf161 126868 broad.mit.edu 37 1 116666819 116666819 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:116666819G>A uc001egc.1 + 4 587 c.322G>A c.(322-324)GAG>AAG p.E108K NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 108 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GCGGGACCCTGAGGGTCTGCA 0.607 13 88 --- --- --- --- PASS CD2 914 broad.mit.edu 37 1 117297467 117297467 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:117297467G>C uc001egu.3 + 2 305 c.276G>C c.(274-276)CTG>CTC p.L92L CD2_uc010owz.1_Silent_p.L92L|CD2_uc010oxa.1_Silent_p.L92L NM_001767 NP_001758 P06729 CD2_HUMAN CD2 molecule precursor 92 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity breast(1) 1 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) ATGGAACTCTGAAAATTAAGC 0.294 11 85 --- --- --- --- PASS CD2 914 broad.mit.edu 37 1 117297543 117297543 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:117297543T>C uc001egu.3 + 2 381 c.352T>C c.(352-354)TTG>CTG p.L118L CD2_uc010owz.1_Silent_p.L118L|CD2_uc010oxa.1_Silent_p.L118L NM_001767 NP_001758 P06729 CD2_HUMAN CD2 molecule precursor 118 Extracellular (Potential).|LFA-3 (CD58) binding region 2.|Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity breast(1) 1 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AAAAAATGTGTTGGAAAAAAT 0.308 11 71 --- --- --- --- PASS PIAS3 10401 broad.mit.edu 37 1 145578463 145578463 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:145578463C>G uc001eoc.1 + 2 517 c.426C>G c.(424-426)ATC>ATG p.I142M NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.I133M|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 142 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGGAGCTCATCCGGCCCACCA 0.547 12 182 --- --- --- --- PASS VPS45 11311 broad.mit.edu 37 1 150082657 150082657 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:150082657G>C uc001etp.2 + 14 2113 c.1540G>C c.(1540-1542)GAG>CAG p.E514Q VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.E478Q|VPS45_uc010pbs.1_Missense_Mutation_p.E409Q|VPS45_uc001etq.2_Missense_Mutation_p.E334Q NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 514 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CACCTATGAAGAGGCTCTAAC 0.418 15 151 --- --- --- --- PASS CA14 23632 broad.mit.edu 37 1 150236221 150236221 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:150236221C>G uc001etx.2 + 10 1200 c.891C>G c.(889-891)ATC>ATG p.I297M NM_012113 NP_036245 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV precursor 297 Helical; (Potential). integral to membrane carbonate dehydratase activity|metal ion binding ovary(1) 1 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GTGTAGGAATCTTGGTTGGCT 0.453 103 691 --- --- --- --- PASS ADAMTSL4 54507 broad.mit.edu 37 1 150526437 150526437 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:150526437C>T uc001eux.2 + 6 1206 c.970C>T c.(970-972)CAC>TAC p.H324Y ADAMTSL4_uc001euw.2_Missense_Mutation_p.H324Y|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.H324Y|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.H324Y NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 324 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGGGACTCCTCACGGGCCCCG 0.711 5 39 --- --- --- --- PASS CTSS 1520 broad.mit.edu 37 1 150724428 150724428 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:150724428C>T uc001evn.2 - 5 589 c.456G>A c.(454-456)CTG>CTA p.L152L CTSS_uc010pcj.1_Silent_p.L102L|CTSS_uc001evo.1_Silent_p.L152L NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 152 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TTTTCAGCTTCAGCTGTGCTT 0.478 19 153 --- --- --- --- PASS TNFAIP8L2 79626 broad.mit.edu 37 1 151131683 151131683 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:151131683G>C uc001ewx.2 + 2 636 c.510G>C c.(508-510)AAG>AAC p.K170N NM_024575 NP_078851 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 170 innate immune response 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACCTTGGCAAGATCTGTGACG 0.542 9 84 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152277254 152277254 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:152277254C>G uc001ezu.1 - 3 10144 c.10108G>C c.(10108-10110)GAG>CAG p.E3370Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3370 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGCGGACTCTTGGTGGCTC 0.582 Ichthyosis 86 759 --- --- --- --- PASS C1orf77 26097 broad.mit.edu 37 1 153617731 153617731 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:153617731G>T uc001fcm.1 + 6 1045 c.733G>T c.(733-735)GAA>TAA p.E245* C1orf77_uc001fcn.1_Nonsense_Mutation_p.E246*|C1orf77_uc001fco.1_Nonsense_Mutation_p.E220*|C1orf77_uc001fcp.2_RNA NM_015607 NP_056422 Q9Y3Y2 CHTOP_HUMAN small protein rich in arginine and glycine 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GACAGATCCCGAAACCAATGA 0.448 12 64 --- --- --- --- PASS CREB3L4 148327 broad.mit.edu 37 1 153945266 153945266 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:153945266T>A uc001fdn.3 + 5 856 c.590T>A c.(589-591)CTG>CAG p.L197Q CREB3L4_uc010pef.1_Missense_Mutation_p.L50Q|CREB3L4_uc001fdo.3_Missense_Mutation_p.L177Q|CREB3L4_uc001fdm.1_Missense_Mutation_p.L197Q|CREB3L4_uc001fdp.1_Missense_Mutation_p.L177Q|CREB3L4_uc001fdr.2_Missense_Mutation_p.L197Q|CREB3L4_uc001fdq.2_Missense_Mutation_p.L177Q NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 197 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGCGTCTGCTGGGGCAGGAA 0.602 23 58 --- --- --- --- PASS JTB 10899 broad.mit.edu 37 1 153949464 153949464 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:153949464C>G uc001fds.2 - 2 832 c.109G>C c.(109-111)GAG>CAG p.E37Q NM_006694 NP_006685 O76095 JTB_HUMAN jumping translocation breakpoint precursor 37 Extracellular (Potential). apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GACAGCTTCTCTTCCTGCACG 0.532 35 237 --- --- --- --- PASS ADAR 103 broad.mit.edu 37 1 154562783 154562783 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:154562783G>C uc001ffh.2 - 7 2573 c.2373C>G c.(2371-2373)GTC>GTG p.V791V ADAR_uc001ffj.2_Silent_p.V772V|ADAR_uc001ffi.2_Silent_p.V791V|ADAR_uc001ffk.2_Silent_p.V496V NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 791 DRBM 3. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CCCCAATCAAGACACGGAGAG 0.557 6 177 --- --- --- --- PASS THBS3 7059 broad.mit.edu 37 1 155175103 155175103 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:155175103C>T uc001fix.2 - 3 314 c.291G>A c.(289-291)CTG>CTA p.L97L RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.L97L|THBS3_uc001fiz.2_Silent_p.L97L|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA|THBS3_uc009wqj.1_Silent_p.L59L NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 97 TSP N-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGTATCGCACCAGTACTGCCC 0.597 31 74 --- --- --- --- PASS YY1AP1 55249 broad.mit.edu 37 1 155646348 155646348 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:155646348C>G uc001fln.2 - 5 537 c.513G>C c.(511-513)CAG>CAC p.Q171H YY1AP1_uc010pgg.1_Missense_Mutation_p.Q39H|YY1AP1_uc010pgh.1_Missense_Mutation_p.Q94H|YY1AP1_uc010pgi.1_Missense_Mutation_p.Q243H|YY1AP1_uc001flh.2_Missense_Mutation_p.Q243H|YY1AP1_uc009wqt.2_Missense_Mutation_p.Q94H|YY1AP1_uc001flk.2_Missense_Mutation_p.Q94H|YY1AP1_uc001fll.2_Missense_Mutation_p.Q105H|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.Q94H|YY1AP1_uc001fli.2_Missense_Mutation_p.Q105H|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.Q105H|YY1AP1_uc009wqw.2_Missense_Mutation_p.Q94H|YY1AP1_uc001flo.2_Missense_Mutation_p.Q39H|YY1AP1_uc001flp.2_Missense_Mutation_p.Q105H|YY1AP1_uc010pgj.1_Missense_Mutation_p.Q171H|YY1AP1_uc009wqx.2_Missense_Mutation_p.Q243H|YY1AP1_uc010pgk.1_Missense_Mutation_p.Q243H NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 171 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CCTGCTGCATCTGCTGCTGGA 0.423 70 466 --- --- --- --- PASS SYT11 23208 broad.mit.edu 37 1 155838163 155838163 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:155838163T>A uc001fmg.2 + 2 705 c.442T>A c.(442-444)TCT>ACT p.S148T SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 148 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CAAAACCACCTCTCCATCATC 0.498 64 207 --- --- --- --- PASS SSR2 6746 broad.mit.edu 37 1 155979398 155979398 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:155979398C>T uc001fmx.2 - 6 565 c.485G>A c.(484-486)GGC>GAC p.G162D SSR2_uc001fmv.2_RNA|SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_3'UTR NM_003145 NP_003136 P43308 SSRB_HUMAN signal sequence receptor, beta precursor 162 Helical; (Potential). cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CAGGGGGATGCCGATGGAGGG 0.517 6 348 --- --- --- --- PASS CCT3 7203 broad.mit.edu 37 1 156280936 156280936 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:156280936G>C uc001fol.1 - 12 1426 c.1206C>G c.(1204-1206)CTC>CTG p.L402L CCT3_uc001fom.1_Silent_p.L401L|CCT3_uc001fon.1_Silent_p.L364L|CCT3_uc010phj.1_Silent_p.L356L|CCT3_uc010phk.1_Silent_p.L356L|CCT3_uc010phl.1_Silent_p.L356L NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 402 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) GAGGGTCCAGGAGAACATTGC 0.532 23 139 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156509192 156509192 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:156509192G>C uc001fpf.2 - 25 3105 c.3030C>G c.(3028-3030)TTC>TTG p.F1010L NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1010 Ras-GAP. 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) GTGCTGTCTTGAACAGCTGGA 0.522 17 60 --- --- --- --- PASS C1orf66 51093 broad.mit.edu 37 1 156703852 156703852 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:156703852G>C uc001fpu.2 + 6 1322 c.688G>C c.(688-690)GAC>CAC p.D230H C1orf66_uc001fpv.2_Intron NM_015997 NP_057081 Q96FB5 RRNAD_HUMAN hypothetical protein LOC51093 isoform 1 230 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TAGGTGGGTAGACCCCACAGC 0.607 28 156 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157509064 157509064 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:157509064C>G uc001fqu.2 - 7 1372 c.1214G>C c.(1213-1215)AGA>ACA p.R405T FCRL5_uc009wsm.2_Missense_Mutation_p.R405T|FCRL5_uc010phv.1_Missense_Mutation_p.R405T|FCRL5_uc010phw.1_Missense_Mutation_p.R320T|FCRL5_uc001fqv.1_Missense_Mutation_p.R405T|FCRL5_uc010phx.1_Missense_Mutation_p.R156T NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 405 Extracellular (Potential).|Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAGTGAACCTCTCTGGGCTTC 0.557 11 82 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157771948 157771948 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:157771948G>A uc001frg.2 - 5 756 c.643C>T c.(643-645)CCC>TCC p.P215S FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.P215S|FCRL1_uc001fri.2_Missense_Mutation_p.P215S|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 215 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGGCCCTGGGAGCCCTGAGC 0.562 5 111 --- --- --- --- PASS OR10K2 391107 broad.mit.edu 37 1 158389820 158389820 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:158389820A>G uc010pii.1 - 1 837 c.837T>C c.(835-837)ACT>ACC p.T279T NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 279 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GAGTTATAATAGTGTAGGATA 0.378 33 154 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158581092 158581092 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:158581092C>T uc001fst.1 - 52 7421 c.7222G>A c.(7222-7224)GAC>AAC p.D2408N NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2408 GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCAACGTAGTCATAGCCAGAG 0.473 11 111 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158612261 158612261 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:158612261G>C uc001fst.1 - 33 4876 c.4677C>G c.(4675-4677)ATC>ATG p.I1559M NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1559 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCCCCAGGTTGATGACGCCAT 0.463 25 189 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158641934 158641934 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:158641934C>T uc001fst.1 - 11 1602 c.1403G>A c.(1402-1404)CGT>CAT p.R468H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 468 Spectrin 5. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTGACGATGACGCTCGTCCCA 0.438 15 133 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687704 158687704 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:158687704A>T uc010pip.1 - 1 250 c.250T>A c.(250-252)TTT>ATT p.F84I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 84 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) ATCTCCAGAAAGGAAAATATA 0.408 58 423 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159277627 159277627 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:159277627C>T uc001ftq.2 + 6 778 c.679C>T c.(679-681)CAG>TAG p.Q227* NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 227 Cytoplasmic (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TATCTCAACTCAGCAGCAGGT 0.423 5 266 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160104397 160104397 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:160104397C>G uc001fvc.2 + 14 2083 c.1951C>G c.(1951-1953)CAA>GAA p.Q651E ATP1A2_uc001fvb.2_Missense_Mutation_p.Q651E|ATP1A2_uc001fvd.2_Missense_Mutation_p.Q387E NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 651 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCCATGAGTCAAGTCAACCC 0.557 14 150 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160765981 160765981 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:160765981G>A uc001fwu.2 + 1 54 c.4G>A c.(4-6)GTG>ATG p.V2M LY9_uc001fwt.2_Missense_Mutation_p.V2M|LY9_uc010pjs.1_Missense_Mutation_p.V2M|LY9_uc001fwv.2_Missense_Mutation_p.V2M|LY9_uc001fww.2_Missense_Mutation_p.V2M|LY9_uc001fwx.2_Missense_Mutation_p.V2M NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 2 cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GATCATCATGGTGGCACCAAA 0.443 25 232 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160784311 160784311 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:160784311G>C uc001fwu.2 + 4 882 c.832G>C c.(832-834)GAG>CAG p.E278Q LY9_uc010pjs.1_Missense_Mutation_p.E278Q|LY9_uc001fwv.2_Missense_Mutation_p.E278Q|LY9_uc001fww.2_Missense_Mutation_p.E278Q|LY9_uc001fwx.2_Missense_Mutation_p.E278Q|LY9_uc001fwy.1_Missense_Mutation_p.E180Q|LY9_uc001fwz.2_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 278 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCGGGACACAGAGAAGGTTGT 0.542 16 164 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160788107 160788107 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:160788107G>C uc001fwu.2 + 6 1492 c.1442G>C c.(1441-1443)CGG>CCG p.R481P LY9_uc001fwv.2_Missense_Mutation_p.R481P|LY9_uc001fww.2_Missense_Mutation_p.R391P|LY9_uc001fwx.2_Missense_Mutation_p.R391P|LY9_uc001fwy.1_Missense_Mutation_p.R293P|LY9_uc001fwz.2_Missense_Mutation_p.R133P NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 481 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CGAAAAGGACGGTGTGAGTTT 0.532 23 165 --- --- --- --- PASS CD244 51744 broad.mit.edu 37 1 160811267 160811267 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:160811267C>G uc009wtq.2 - 3 581 c.403G>C c.(403-405)GAG>CAG p.E135Q CD244_uc001fxa.2_Missense_Mutation_p.E130Q|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_Intron NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 135 Extracellular (Potential).|Ig-like 2. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CGGGGTTTCTCAACTTTATCT 0.507 4 119 --- --- --- --- PASS FCGR3A 2214 broad.mit.edu 37 1 161518423 161518423 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:161518423C>T uc001gat.3 - 4 244 c.107G>A c.(106-108)AGG>AAG p.R36K FCGR3A_uc001gar.2_Missense_Mutation_p.R72K|FCGR3A_uc001gas.2_Missense_Mutation_p.R71K|FCGR3A_uc009wuh.2_Missense_Mutation_p.R35K|FCGR3A_uc009wui.2_Missense_Mutation_p.R36K NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 36 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCGAGCACCCTGTACCATTG 0.542 23 394 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097043 167097043 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:167097043C>T uc001geb.1 + 5 2675 c.2675C>T c.(2674-2676)GCC>GTC p.A892V NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 892 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 ACTGACAGTGCCATAGGGAGC 0.517 25 84 --- --- --- --- PASS DCAF6 55827 broad.mit.edu 37 1 167962587 167962587 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:167962587G>A uc001gew.2 + 7 1054 c.812G>A c.(811-813)AGT>AAT p.S271N DCAF6_uc001gev.2_Missense_Mutation_p.S271N|DCAF6_uc001gex.2_Missense_Mutation_p.S271N|DCAF6_uc010plk.1_Missense_Mutation_p.S240N|DCAF6_uc001gey.2_Missense_Mutation_p.S124N NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 271 WD 5. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 ATTCTCGTTAGTTACTCTTCA 0.398 43 125 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169580801 169580801 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:169580801C>G uc001ggi.3 - 7 1141 c.1076G>C c.(1075-1077)AGA>ACA p.R359T SELP_uc001ggh.2_Missense_Mutation_p.R194T|SELP_uc009wvr.2_Missense_Mutation_p.R359T NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 359 Sushi 3.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GCCCCTCACTCTGTAGCCGGG 0.542 21 177 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169953797 169953797 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:169953797C>T uc001ggv.2 - 12 1590 c.1319G>A c.(1318-1320)CGA>CAA p.R440Q KIFAP3_uc010plx.1_Missense_Mutation_p.R142Q NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 440 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAAGTCAATTCGTTCATCTGA 0.368 18 158 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 170024510 170024510 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:170024510C>T uc001ggv.2 - 2 371 c.100G>A c.(100-102)GAA>AAA p.E34K KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 34 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGGTAGCTTCCACTTCATAG 0.348 18 137 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171486904 171486904 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:171486904G>C uc010pmg.1 + 6 961 c.695G>C c.(694-696)GGA>GCA p.G232A BAT2L2_uc001ghr.1_Missense_Mutation_p.G234A NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 232 protein C-terminus binding 0 AAACTGAATGGACAGCAGGCT 0.438 15 70 --- --- --- --- PASS C1orf105 92346 broad.mit.edu 37 1 172417620 172417620 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:172417620G>A uc001gik.2 + 3 343 c.147G>A c.(145-147)AAG>AAA p.K49K NM_139240 NP_640333 O95561 CA105_HUMAN hypothetical protein LOC92346 49 skin(1) 1 CTTCATCCAAGAAGAATATGA 0.358 76 198 --- --- --- --- PASS TNFSF18 8995 broad.mit.edu 37 1 173020013 173020013 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:173020013A>G uc001giu.2 - 1 91 c.90T>C c.(88-90)AAT>AAC p.N30N NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, 30 Cytoplasmic (Potential). anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1) 1 TTAAAGGCATATTTTCCAAGT 0.398 14 89 --- --- --- --- PASS KLHL20 27252 broad.mit.edu 37 1 173735424 173735424 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:173735424G>C uc001gjc.2 + 8 1470 c.1291G>C c.(1291-1293)GAG>CAG p.E431Q KLHL20_uc010pmr.1_Missense_Mutation_p.E242Q|KLHL20_uc009wwf.2_Missense_Mutation_p.E413Q NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 431 Kelch 3. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 CAACATTGTTGAGAGGTGATC 0.353 39 344 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175375563 175375563 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:175375563C>A uc001gkp.1 - 1 369 c.288G>T c.(286-288)GAG>GAT p.E96D TNR_uc009wwu.1_Missense_Mutation_p.E96D|TNR_uc010pmz.1_Missense_Mutation_p.E96D NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 96 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTGCCAGAGTCTCGTCTTCTG 0.547 20 189 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176915139 176915139 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:176915139G>C uc001glc.2 - 13 2384 c.2172C>G c.(2170-2172)CTC>CTG p.L724L ASTN1_uc001glb.1_Silent_p.L724L|ASTN1_uc001gld.1_Silent_p.L724L|ASTN1_uc009wwx.1_Silent_p.L724L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 732 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCTCCCCAAAGAGGGTCTGGT 0.507 27 289 --- --- --- --- PASS FAM20B 9917 broad.mit.edu 37 1 179033588 179033588 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:179033588G>A uc001gmc.2 + 6 1188 c.895G>A c.(895-897)GAT>AAT p.D299N NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 299 Lumenal (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 CTTTCAAGATGATGAAGGCGC 0.483 14 89 --- --- --- --- PASS ABL2 27 broad.mit.edu 37 1 179078431 179078431 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:179078431C>T uc001gmj.3 - 12 2258 c.1971G>A c.(1969-1971)ATG>ATA p.M657I ABL2_uc010pnf.1_Missense_Mutation_p.M657I|ABL2_uc010png.1_Missense_Mutation_p.M636I|ABL2_uc010pnh.1_Missense_Mutation_p.M636I|ABL2_uc001gmg.3_Missense_Mutation_p.M642I|ABL2_uc001gmi.3_Missense_Mutation_p.M642I|ABL2_uc001gmh.3_Missense_Mutation_p.M621I|ABL2_uc010pne.1_Missense_Mutation_p.M621I NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 657 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTCTCTTCTTCATGAAGGAGC 0.502 T ETV6 AML 14 625 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179503872 179503872 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:179503872G>C uc001gmo.2 + 25 2933 c.2806G>C c.(2806-2808)GAA>CAA p.E936Q C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E862Q|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 936 Glu-rich. 0 CAGGGAGGTTGAAAATAGAGC 0.343 23 205 --- --- --- --- PASS TOR1AIP2 163590 broad.mit.edu 37 1 179815465 179815465 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:179815465T>A uc001gnk.2 - 6 1542 c.1154A>T c.(1153-1155)GAG>GTG p.E385V TOR1AIP2_uc001gnl.2_Missense_Mutation_p.E385V NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 385 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 GGCAGCATTCTCATGATCACA 0.478 41 114 --- --- --- --- PASS FAM129A 116496 broad.mit.edu 37 1 184853879 184853879 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:184853879T>C uc001gra.2 - 5 683 c.489A>G c.(487-489)CCA>CCG p.P163P FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 163 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 ACAGGTACACTGGGAATTCCT 0.493 14 81 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185267261 185267261 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:185267261C>A uc001grl.2 - 15 2458 c.1835G>T c.(1834-1836)GGA>GTA p.G612V IVNS1ABP_uc001gri.2_Missense_Mutation_p.G272V|IVNS1ABP_uc001grj.2_Missense_Mutation_p.G272V|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.G394V|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 612 Kelch 6. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 ATCGAATCCTCCCACTGCATA 0.393 62 598 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185270568 185270568 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:185270568G>C uc001grl.2 - 9 1516 c.893C>G c.(892-894)TCA>TGA p.S298* IVNS1ABP_uc001gri.2_5'UTR|IVNS1ABP_uc001grj.2_5'UTR|IVNS1ABP_uc009wyj.2_Nonsense_Mutation_p.S80*|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_5'UTR NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 298 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 ATACTTACTTGAAGTCTTTTC 0.373 34 321 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186099718 186099718 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:186099718G>C uc001grq.1 + 85 13348 c.13119G>C c.(13117-13119)GTG>GTC p.V4373V HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4373 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATTGTGAGGTGAAAGGAGACC 0.478 26 191 --- --- --- --- PASS RGS13 6003 broad.mit.edu 37 1 192627366 192627366 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:192627366G>A uc001gsj.2 + 6 444 c.163G>A c.(163-165)GAG>AAG p.E55K RGS13_uc001gsk.2_Missense_Mutation_p.E55K NM_002927 NP_002918 O14921 RGS13_HUMAN regulator of G-protein signalling 13 55 RGS. plasma membrane GTPase activator activity|signal transducer activity 0 TTTAAAAATGGAGCACAGTGA 0.358 25 131 --- --- --- --- PASS CFHR2 3080 broad.mit.edu 37 1 196928072 196928072 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:196928072C>A uc001gtq.1 + 5 752 c.675C>A c.(673-675)AAC>AAA p.N225K CFHR2_uc001gtr.1_Missense_Mutation_p.N101K NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 225 Sushi 4. extracellular region skin(2)|ovary(1) 3 AGTGGACAAACCAACAAAAGC 0.284 7 106 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198700751 198700751 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:198700751G>A uc001gur.1 + 18 2044 c.1864G>A c.(1864-1866)GAA>AAA p.E622K PTPRC_uc001gus.1_Missense_Mutation_p.E574K|PTPRC_uc001gut.1_Missense_Mutation_p.E461K|PTPRC_uc009wzf.1_Missense_Mutation_p.E510K|PTPRC_uc010ppg.1_Missense_Mutation_p.E558K NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 622 Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TCCAGATGATGAAAAACAACT 0.348 14 174 --- --- --- --- PASS ZNF281 23528 broad.mit.edu 37 1 200377663 200377663 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:200377663G>C uc001gve.2 - 2 1278 c.1171C>G c.(1171-1173)CTG>GTG p.L391V ZNF281_uc001gvf.1_Missense_Mutation_p.L391V|ZNF281_uc001gvg.1_Missense_Mutation_p.L355V NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 391 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 AACACAGCCAGATTACCCATA 0.403 11 527 --- --- --- --- PASS CAMSAP1L1 23271 broad.mit.edu 37 1 200801403 200801403 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:200801403G>C uc001gvl.2 + 6 1024 c.754G>C c.(754-756)GGG>CGG p.G252R CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G241R|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G241R NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 252 CH. cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 GTTGAAGGATGGGACAGATGG 0.383 18 231 --- --- --- --- PASS CAMSAP1L1 23271 broad.mit.edu 37 1 200801404 200801404 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:200801404G>T uc001gvl.2 + 6 1025 c.755G>T c.(754-756)GGG>GTG p.G252V CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G241V|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G241V NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 252 CH. cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 TTGAAGGATGGGACAGATGGC 0.383 18 232 --- --- --- --- PASS CAMSAP1L1 23271 broad.mit.edu 37 1 200825142 200825142 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:200825142G>C uc001gvl.2 + 16 4204 c.3934G>C c.(3934-3936)GAG>CAG p.E1312Q CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.E1301Q|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.E1285Q NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1312 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 AATTAGATCAGAGTCTGTAGA 0.388 52 355 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201047027 201047027 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:201047027C>G uc001gvv.2 - 11 1826 c.1599G>C c.(1597-1599)CTG>CTC p.L533L NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 533 II.|Helical; Name=S4 of repeat II; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGAAGATCCTCAGGAGGCGGA 0.632 10 86 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201060808 201060808 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:201060808G>A uc001gvv.2 - 5 881 c.654C>T c.(652-654)TTC>TTT p.F218F NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 218 Helical; Name=S5 of repeat I; (Potential).|I. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTTGCCCTTGAAGAGCTCCA 0.562 21 234 --- --- --- --- PASS ZC3H11A 9877 broad.mit.edu 37 1 203819065 203819065 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:203819065C>T uc001hac.2 + 17 2466 c.1850C>T c.(1849-1851)TCC>TTC p.S617F ZC3H11A_uc001had.2_Missense_Mutation_p.S617F|ZC3H11A_uc001hae.2_Missense_Mutation_p.S617F|ZC3H11A_uc001haf.2_Missense_Mutation_p.S617F|ZC3H11A_uc010pqm.1_Missense_Mutation_p.S563F|ZC3H11A_uc001hag.1_Missense_Mutation_p.S617F NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 617 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) ACAAAGTCATCCCAGAAGGTG 0.493 20 127 --- --- --- --- PASS REN 5972 broad.mit.edu 37 1 204131207 204131207 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:204131207G>A uc001haq.2 - 2 227 c.183C>T c.(181-183)AGC>AGT p.S61S NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 61 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TCATGGGTTGGCTCCACTCGG 0.592 OREG0014128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 56 --- --- --- --- PASS PPP1R15B 84919 broad.mit.edu 37 1 204379147 204379147 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:204379147C>G uc001hav.3 - 1 1798 c.1393G>C c.(1393-1395)GAC>CAC p.D465H NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 465 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) AGGTCTGAGTCTGACAGTGAG 0.458 213 325 --- --- --- --- PASS LRRN2 10446 broad.mit.edu 37 1 204587926 204587926 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:204587926C>T uc001hbe.1 - 3 1583 c.1195G>A c.(1195-1197)GAG>AAG p.E399K MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.E399K|LRRN2_uc009xbf.1_Missense_Mutation_p.E399K|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 399 Extracellular (Potential).|LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCCGGAGGCTCCGCACACAGG 0.662 10 69 --- --- --- --- PASS FAIM3 9214 broad.mit.edu 37 1 207085125 207085125 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:207085125G>C uc001hey.2 - 4 839 c.660C>G c.(658-660)CTC>CTG p.L220L FAIM3_uc010prz.1_Silent_p.L108L|FAIM3_uc010psa.1_Silent_p.L129L|FAIM3_uc010psb.1_Silent_p.L220L NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 220 Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) TCTGGGGCTTGAGCAGCCCCT 0.557 OREG0014185 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 140 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210273457 210273457 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:210273457C>G uc009xcv.2 + 6 887 c.815C>G c.(814-816)TCA>TGA p.S272* SYT14_uc001hhs.3_Nonsense_Mutation_p.S317*|SYT14_uc001hht.3_Nonsense_Mutation_p.S272*|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Nonsense_Mutation_p.S317*|SYT14_uc010pso.1_Nonsense_Mutation_p.S234* NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 272 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) GACTATGACTCACAAGAACAG 0.443 12 126 --- --- --- --- PASS HHAT 55733 broad.mit.edu 37 1 210761406 210761406 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:210761406G>C uc009xcx.2 + 10 1374 c.1208G>C c.(1207-1209)CGG>CCG p.R403P HHAT_uc010psq.1_Missense_Mutation_p.R266P|HHAT_uc001hhz.3_Missense_Mutation_p.R403P|HHAT_uc010psr.1_Missense_Mutation_p.R404P|HHAT_uc010pss.1_Missense_Mutation_p.R358P|HHAT_uc009xcy.2_Missense_Mutation_p.R338P|HHAT_uc010pst.1_Missense_Mutation_p.R340P|HHAT_uc010psu.1_Missense_Mutation_p.R338P|HHAT_uc001hia.3_Missense_Mutation_p.R93P NM_001122834 NP_001116306 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 403 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) AATGGAGTCCGGAGGCTGGTG 0.557 8 28 --- --- --- --- PASS PPP2R5A 5525 broad.mit.edu 37 1 212502659 212502659 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:212502659G>C uc001hjb.2 + 2 938 c.364G>C c.(364-366)GAT>CAT p.D122H PPP2R5A_uc010ptd.1_Missense_Mutation_p.D63H NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 122 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) AGCGTATTCTGATATAGTAAA 0.299 9 97 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214818501 214818501 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:214818501C>T uc001hkm.2 + 13 5762 c.5588C>T c.(5587-5589)TCT>TTT p.S1863F NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1959 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GTAGAAACTTCTGAAGGCCTC 0.368 5 101 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215824088 215824088 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:215824088G>T uc001hku.1 - 65 14576 c.14189C>A c.(14188-14190)ACC>AAC p.T4730N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4730 Fibronectin type-III 32.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGCTGGCCCGGTTCTGCACCA 0.547 HNSCC(13;0.011) 111 216 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215916526 215916526 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:215916526A>G uc001hku.1 - 59 11928 c.11541T>C c.(11539-11541)TGT>TGC p.C3847C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3847 Fibronectin type-III 23.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACCATTTTGACATGCTTGTA 0.368 HNSCC(13;0.011) 51 206 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216017714 216017714 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:216017714C>A uc001hku.1 - 46 9567 c.9180G>T c.(9178-9180)AAG>AAT p.K3060N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3060 Fibronectin type-III 17.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTTGTAGAGCTTATTATTTA 0.398 HNSCC(13;0.011) 40 146 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216251512 216251512 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:216251512G>T uc001hku.1 - 27 5878 c.5491C>A c.(5491-5493)CTG>ATG p.L1831M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1831 Laminin G-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCACCACCAGTGGCTGGTCT 0.438 HNSCC(13;0.011) 31 212 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216500961 216500961 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:216500961G>T uc001hku.1 - 5 1207 c.820C>A c.(820-822)CGA>AGA p.R274R USH2A_uc001hkv.2_Silent_p.R274R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 274 Laminin N-terminal.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTATAATCGAAAATCTTGC 0.358 HNSCC(13;0.011) 82 132 --- --- --- --- PASS MARK1 4139 broad.mit.edu 37 1 220835153 220835153 + Splice_Site SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:220835153G>A uc001hmn.3 + 18 2631 c.2034_splice c.e18-1 p.R678_splice MARK1_uc009xdw.2_Splice_Site_p.R679_splice|MARK1_uc010pun.1_Splice_Site_p.R663_splice|MARK1_uc001hmm.3_Splice_Site_p.R641_splice NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TCTTGTTCCAGAAGTACATCA 0.408 11 45 --- --- --- --- PASS MOSC2 54996 broad.mit.edu 37 1 220955136 220955136 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:220955136C>G uc001hmq.2 + 7 1099 c.901C>G c.(901-903)CCT>GCT p.P301A MOSC2_uc001hmr.2_Missense_Mutation_p.P301A|MOSC2_uc009xdx.2_Intron NM_017898 NP_060368 Q969Z3 MOSC2_HUMAN MOCO sulphurase C-terminal domain containing 2 301 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204) CCTGTGTGATCCTTCTGAGAG 0.393 12 364 --- --- --- --- PASS HLX 3142 broad.mit.edu 37 1 221053614 221053614 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:221053614C>T uc001hmv.3 + 1 872 c.415C>T c.(415-417)CCG>TCG p.P139S NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 139 Pro-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) gcaacagcCTCCGCCTCCGCC 0.597 5 33 --- --- --- --- PASS TAF1A 9015 broad.mit.edu 37 1 222732062 222732062 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:222732062C>G uc009xdz.1 - 11 1482 c.1293G>C c.(1291-1293)AAG>AAC p.K431N TAF1A_uc009xdy.1_Missense_Mutation_p.K122N|TAF1A_uc001hni.1_Missense_Mutation_p.K317N|TAF1A_uc001hnj.2_Missense_Mutation_p.K431N|TAF1A_uc001hnk.2_Missense_Mutation_p.K317N NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 431 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) GCTTAATTTTCTTCCCTAAGA 0.294 20 140 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222838891 222838891 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:222838891G>A uc001hnl.2 + 28 5663 c.5654G>A c.(5653-5655)AGA>AAA p.R1885K MIA3_uc001hnm.2_Missense_Mutation_p.R763K NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1885 Pro-rich.|Cytoplasmic (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) TCAGGCTCTAGAGATGAGCCT 0.512 8 270 --- --- --- --- PASS AIDA 64853 broad.mit.edu 37 1 222876525 222876525 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:222876525G>C uc001hnn.2 - 2 350 c.145C>G c.(145-147)CAA>GAA p.Q49E AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.Q25E NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 49 Potential. dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 TTATTGTGTTGAGCTTGGGCC 0.318 12 136 --- --- --- --- PASS WNT9A 7483 broad.mit.edu 37 1 228109220 228109220 + Nonstop_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:228109220C>G uc001hri.2 - 4 1185 c.1097G>C c.(1096-1098)TGA>TCA p.*366S NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 366 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) CCTGGGAACTCAGCCCTTGCA 0.642 12 133 --- --- --- --- PASS ARF1 375 broad.mit.edu 37 1 228284827 228284827 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:228284827C>G uc001hrr.2 + 2 240 c.12C>G c.(10-12)ATC>ATG p.I4M ARF1_uc001hrs.2_Missense_Mutation_p.I4M|ARF1_uc001hrt.2_Missense_Mutation_p.I4M|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.I4M|ARF1_uc001hrv.2_Missense_Mutation_p.I4M|ARF1_uc001hrw.2_Missense_Mutation_p.I4M NM_001024226 NP_001019397 P84077 ARF1_HUMAN ADP-ribosylation factor 1 4 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity 0 Prostate(94;0.0405) TGGGGAACATCTTCGCCAACC 0.547 4 211 --- --- --- --- PASS ARF1 375 broad.mit.edu 37 1 228285672 228285672 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:228285672A>G uc001hrr.2 + 5 732 c.504A>G c.(502-504)GAA>GAG p.E168E ARF1_uc001hrs.2_Silent_p.E168E|ARF1_uc001hrt.2_3'UTR|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.E168E|ARF1_uc001hrv.2_Silent_p.E168E|ARF1_uc001hrw.2_Silent_p.E168E NM_001024226 NP_001019397 P84077 ARF1_HUMAN ADP-ribosylation factor 1 168 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity 0 Prostate(94;0.0405) GGCTCTATGAAGGACTGGACT 0.597 12 69 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228495998 228495998 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:228495998G>T uc009xez.1 + 47 12697 c.12653G>T c.(12652-12654)CGG>CTG p.R4218L OBSCN_uc001hsn.2_Missense_Mutation_p.R4218L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4218 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CACACCCTGCGGCTGAAGGGC 0.642 7 24 --- --- --- --- PASS HIST3H2A 92815 broad.mit.edu 37 1 228645302 228645302 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:228645302C>T uc001hsy.2 - 1 259 c.217G>A c.(217-219)GAC>AAC p.D73N HIST3H2BB_uc001hsz.2_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 73 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 Prostate(94;0.183) TTCTTGTTGTCGCGCGCCGCG 0.682 17 82 --- --- --- --- PASS RHOU 58480 broad.mit.edu 37 1 228879380 228879380 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:228879380C>G uc001htf.2 + 3 1291 c.670C>G c.(670-672)CAA>GAA p.Q224E NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN ras homolog gene family, member U 224 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding 0 Breast(184;0.162) Prostate(94;0.183) CGCTGGCATTCAATACTCGGA 0.473 12 184 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229783477 229783477 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:229783477C>G uc001hts.1 + 7 4263 c.4127C>G c.(4126-4128)TCA>TGA p.S1376* URB2_uc009xfd.1_Nonsense_Mutation_p.S1376* NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1376 nucleolus central_nervous_system(2)|ovary(1) 3 GTGCTCTTCTCAATCCTGCAG 0.552 6 170 --- --- --- --- PASS URB2 9816 broad.mit.edu 37 1 229795041 229795041 + Silent SNP C G G rs9988520 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:229795041C>G uc001hts.1 + 10 4708 c.4572C>G c.(4570-4572)GCC>GCG p.A1524A URB2_uc009xfd.1_Silent_p.A1524A NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1524 nucleolus central_nervous_system(2)|ovary(1) 3 GATATACGGCCTAAGGCTATG 0.468 74 120 --- --- --- --- PASS SLC35F3 148641 broad.mit.edu 37 1 234458779 234458779 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:234458779C>A uc001hwa.1 + 7 1284 c.1056C>A c.(1054-1056)ATC>ATA p.I352I SLC35F3_uc001hvy.1_Silent_p.I421I NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 352 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCAGTCAGATCGTCTTCAATG 0.577 24 109 --- --- --- --- PASS GGPS1 9453 broad.mit.edu 37 1 235505377 235505377 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:235505377G>C uc001hwv.2 + 4 277 c.193G>C c.(193-195)GAT>CAT p.D65H GGPS1_uc001hww.2_Missense_Mutation_p.D65H|GGPS1_uc001hwx.2_Missense_Mutation_p.D11H|GGPS1_uc001hwy.2_Missense_Mutation_p.D65H NM_001037277 NP_001032354 O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 isoform A 65 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) ACTCATCGATGATATTGAAGA 0.348 3 103 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235827887 235827887 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:235827887C>G uc001hxj.2 - 51 11248 c.11073G>C c.(11071-11073)GTG>GTC p.V3691V LYST_uc001hxi.2_Silent_p.V915V NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3691 WD 5. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GATCCCCGTTCACCGTCCAGA 0.557 Chediak-Higashi_syndrome 7 107 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235929511 235929511 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:235929511C>A uc001hxj.2 - 21 6164 c.5989G>T c.(5989-5991)GCA>TCA p.A1997S LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1997 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AGGACTTCTGCTATAATTTTC 0.358 Chediak-Higashi_syndrome 59 456 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235955020 235955020 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:235955020C>A uc001hxj.2 - 12 4697 c.4522G>T c.(4522-4524)GAT>TAT p.D1508Y LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Missense_Mutation_p.D1508Y NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1508 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAACTGCTATCTGGTAAAATT 0.338 Chediak-Higashi_syndrome 26 262 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237550644 237550644 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:237550644G>T uc001hyl.1 + 9 760 c.640G>T c.(640-642)GTG>TTG p.V214L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 214 Cytoplasmic (By similarity).|MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTCTGGAGCGTGGCCCCAAT 0.512 31 138 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237580371 237580371 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:237580371G>C uc001hyl.1 + 11 916 c.796G>C c.(796-798)GCT>CCT p.A266P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 266 Cytoplasmic (By similarity).|MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A264T(1) ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGAAGGTGGCGCTGTGTCTGT 0.388 13 102 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237794799 237794799 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:237794799G>A uc001hyl.1 + 42 6633 c.6513G>A c.(6511-6513)GTG>GTA p.V2171V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2171 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACGAGACTGTGATGGAGGTCA 0.448 15 63 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237868518 237868518 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:237868518G>T uc001hyl.1 + 67 9575 c.9455G>T c.(9454-9456)CGT>CTT p.R3152L RYR2_uc010pxz.1_Missense_Mutation_p.R107L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3152 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TATAGGCAACGTTCTGCATTA 0.338 9 42 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237949313 237949313 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:237949313C>T uc001hyl.1 + 91 13425 c.13305C>T c.(13303-13305)ACC>ACT p.T4435T RYR2_uc010pya.1_Silent_p.T850T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4435 Potential.|Glu-rich (acidic). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) aagaagaaACCAAATCTGAAC 0.323 3 18 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240374396 240374396 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:240374396C>T uc010pyd.1 + 6 4151 c.3926C>T c.(3925-3927)TCC>TTC p.S1309F FMN2_uc010pye.1_Missense_Mutation_p.S1313F NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1309 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTAGAGACTCCAGTACTTCA 0.274 18 184 --- --- --- --- PASS CEP170 9859 broad.mit.edu 37 1 243289777 243289777 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:243289777C>T uc001hzs.2 - 20 5137 c.4729G>A c.(4729-4731)GAG>AAG p.E1577K CEP170_uc001hzt.2_Missense_Mutation_p.E1453K|CEP170_uc001hzu.2_Missense_Mutation_p.E1479K|CEP170_uc001hzr.2_Missense_Mutation_p.E166K|CEP170_uc001hzv.1_Intron NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1577 Targeting to microtubules.|Targeting to centrosomes. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) ACATCTTCCTCTTCCCCATCG 0.403 4 43 --- --- --- --- PASS ZNF695 57116 broad.mit.edu 37 1 247150665 247150665 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:247150665T>C uc009xgu.2 - 4 1297 c.1152A>G c.(1150-1152)GAA>GAG p.E384E ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 384 C2H2-type 9. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTTTGCCACATTCCTCACATT 0.408 19 100 --- --- --- --- PASS ZNF695 57116 broad.mit.edu 37 1 247150970 247150970 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:247150970G>C uc009xgu.2 - 4 992 c.847C>G c.(847-849)CTT>GTT p.L283V ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 283 C2H2-type 5. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGTTTAGTAAGAACTGAGCAC 0.358 10 62 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247768946 247768946 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:247768946A>T uc010pyz.1 + 1 59 c.59A>T c.(58-60)CAC>CTC p.H20L NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTCTCAGACCACCCTCGTCTG 0.493 36 272 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875804 247875804 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:247875804A>G uc001idj.1 - 1 254 c.254T>C c.(253-255)CTA>CCA p.L85P NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTCCCCAGTAGGATGGCCAG 0.483 22 161 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004613 248004613 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:248004613C>T uc001idn.1 - 1 586 c.586G>A c.(586-588)GAG>AAG p.E196K NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATGGTCACCTCGGTGATATAA 0.478 16 180 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248262678 248262678 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:248262678A>G uc001ids.2 + 3 338 c.1A>G c.(1-3)ATG>GTG p.M1V NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GAAAGTTTTCATGGAGAAATG 0.254 62 209 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525698 248525698 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:248525698C>A uc001ieh.1 + 1 816 c.816C>A c.(814-816)ACC>ACA p.T272T NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 272 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTTTGCCACCTGCTCCTCCC 0.547 85 258 --- --- --- --- PASS OR2T10 127069 broad.mit.edu 37 1 248756958 248756958 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr1:248756958C>A uc010pzn.1 - 1 112 c.112G>T c.(112-114)GCT>TCT p.A38S NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAAGACACAGCCATCAAAAAT 0.443 16 116 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15417012 15417012 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:15417012G>A uc002rcc.1 - 43 5378 c.5352C>T c.(5350-5352)CAC>CAT p.H1784H NBAS_uc010exl.1_Silent_p.H856H|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1784 H -> Y (in Ref. 1; AAM93544). ovary(2)|liver(1)|skin(1) 4 GCAGTCGAATGTGGGTTTCTG 0.408 16 103 --- --- --- --- PASS SMC6 79677 broad.mit.edu 37 2 17898106 17898106 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:17898106T>A uc002rco.2 - 14 1544 c.1248A>T c.(1246-1248)AGA>AGT p.R416S SMC6_uc010exo.2_Missense_Mutation_p.R416S|SMC6_uc002rcn.2_Missense_Mutation_p.R416S|SMC6_uc002rcp.1_Missense_Mutation_p.R442S|SMC6_uc002rcq.2_Missense_Mutation_p.R442S|SMC6_uc002rcr.1_Missense_Mutation_p.R416S NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 416 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGGCCTTTACTCTCTCTTTTA 0.338 25 122 --- --- --- --- PASS NT5C1B 93034 broad.mit.edu 37 2 18770719 18770719 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:18770719G>A uc002rcz.2 - 1 120 c.16C>T c.(16-18)CTC>TTC p.L6F NT5C1B_uc002rcy.2_Missense_Mutation_p.L6F|NT5C1B_uc010exr.2_Missense_Mutation_p.L6F|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Missense_Mutation_p.L6F|NT5C1B_uc010yjv.1_Missense_Mutation_p.L6F|NT5C1B_uc010yjw.1_Missense_Mutation_p.L6F|NT5C1B_uc010exs.2_Missense_Mutation_p.L6F NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 6 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TTCTGTTTGAGAGATGTTTGA 0.418 22 205 --- --- --- --- PASS C2orf79 391356 broad.mit.edu 37 2 25016063 25016063 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:25016063G>A uc002rfm.2 - 1 189 c.184C>T c.(184-186)CAC>TAC p.H62Y CENPO_uc002rfn.2_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank NM_001013663 NP_001013685 Q6GMV3 PTRD1_HUMAN hypothetical protein LOC391356 62 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity 0 TGGTCGCGGTGAGTGTGCAAG 0.657 10 51 --- --- --- --- PASS KHK 3795 broad.mit.edu 37 2 27320448 27320448 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:27320448G>C uc002ril.2 + 5 1012 c.495G>C c.(493-495)AAG>AAC p.K165N KHK_uc002rim.2_Missense_Mutation_p.K165N|KHK_uc002rin.2_Missense_Mutation_p.K166N|KHK_uc002rio.2_Missense_Mutation_p.K81N NM_000221 NP_000212 P50053 KHK_HUMAN ketohexokinase isoform a 165 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAGCAGAAGATCCGGGTGT 0.612 8 122 --- --- --- --- PASS DNAJC5G 285126 broad.mit.edu 37 2 27500880 27500880 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:27500880C>G uc002rjl.1 + 4 790 c.372C>G c.(370-372)TTC>TTG p.F124L SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.F124L NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 124 protein folding membrane heat shock protein binding|unfolded protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTGTTGGTTCAAGGTACACA 0.398 6 198 --- --- --- --- PASS NRBP1 29959 broad.mit.edu 37 2 27659661 27659661 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:27659661G>T uc002rko.2 + 9 1535 c.703G>T c.(703-705)GAA>TAA p.E235* NRBP1_uc002rkq.2_Nonsense_Mutation_p.E235*|NRBP1_uc002rkp.2_Nonsense_Mutation_p.E235*|NRBP1_uc002rkr.2_Nonsense_Mutation_p.E26* NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 235 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) GACTTGTCGAGAAGAGCAGAA 0.483 35 63 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27800538 27800538 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:27800538A>G uc002rkz.3 + 1 1150 c.1099A>G c.(1099-1101)AAG>GAG p.K367E NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 367 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GTTGACTTCTAAGTCAGGAGT 0.463 13 80 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27802036 27802036 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:27802036C>G uc002rkz.3 + 1 2648 c.2597C>G c.(2596-2598)TCT>TGT p.S866C NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 866 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CTCATCAAGTCTTTCCCGGGC 0.473 20 92 --- --- --- --- PASS WDR43 23160 broad.mit.edu 37 2 29158396 29158396 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:29158396C>G uc002rmo.2 + 12 1479 c.1447C>G c.(1447-1449)CAA>GAA p.Q483E NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 483 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GAAAGTACTTCAAACTAGGAA 0.318 19 107 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29296852 29296852 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:29296852C>T uc002rmt.1 - 1 276 c.276G>A c.(274-276)CTG>CTA p.L92L NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 92 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TTCCTGGGATCAGTCCTTCCA 0.488 41 271 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31590862 31590862 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:31590862T>C uc002rnv.1 - 20 2241 c.2162A>G c.(2161-2163)AAG>AGG p.K721R NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 721 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AAACCCCTTCTTTAGGTCCCC 0.443 95 237 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32476252 32476252 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:32476252G>C uc002roi.2 - 4 927 c.681C>G c.(679-681)ATC>ATG p.I227M NLRC4_uc002roj.1_Missense_Mutation_p.I227M|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 227 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCTGCTTCCTGATTGTGCCAG 0.498 24 120 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37229651 37229651 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:37229651G>C uc002rpp.1 - 32 5211 c.5115C>G c.(5113-5115)CTC>CTG p.L1705L HEATR5B_uc002rpo.1_Silent_p.L18L|HEATR5B_uc010ezy.1_Intron NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1705 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TTCCAGGAATGAGACCACCGC 0.438 23 147 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37276911 37276911 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:37276911G>C uc002rpp.1 - 18 2677 c.2581C>G c.(2581-2583)CTG>GTG p.L861V NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 861 HEAT 1. binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GGGTTGTCCAGAGGACCCATA 0.438 20 71 --- --- --- --- PASS SFRS7 6432 broad.mit.edu 37 2 38975246 38975246 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:38975246C>G uc002rqz.2 - 5 753 c.515G>C c.(514-516)AGA>ACA p.R172T SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.R172T NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN splicing factor, arginine/serine-rich 7 172 3.|6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding 0 all_hematologic(82;0.248) TGAAGCTGATCTTGATCTACG 0.363 21 116 --- --- --- --- PASS LRPPRC 10128 broad.mit.edu 37 2 44115753 44115753 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:44115753C>A uc002rtr.2 - 38 4229 c.4171G>T c.(4171-4173)GAA>TAA p.E1391* NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 1391 RNA-binding. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAAGAGTTTTCCCTCAATTTT 0.333 9 80 --- --- --- --- PASS LRPPRC 10128 broad.mit.edu 37 2 44139579 44139579 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:44139579C>G uc002rtr.2 - 30 3325 c.3267G>C c.(3265-3267)GTG>GTC p.V1089V LRPPRC_uc010yob.1_Silent_p.V989V NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 1089 PPR 16. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACAATGCTTTCACTTCCATTG 0.308 25 120 --- --- --- --- PASS PREPL 9581 broad.mit.edu 37 2 44566303 44566303 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:44566303C>G uc002ruf.2 - 6 987 c.952G>C c.(952-954)GAA>CAA p.E318Q PREPL_uc002rug.2_Missense_Mutation_p.E318Q|PREPL_uc002ruh.2_Missense_Mutation_p.E318Q|PREPL_uc010fax.2_Missense_Mutation_p.E318Q|PREPL_uc002rui.3_Missense_Mutation_p.E229Q|PREPL_uc002ruj.1_Missense_Mutation_p.E229Q|PREPL_uc002ruk.1_Missense_Mutation_p.E318Q NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 318 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTGTAGGTTCTCCAACATTA 0.418 22 115 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55549772 55549772 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:55549772C>G uc002ryv.2 - 18 3893 c.3051G>C c.(3049-3051)CAG>CAC p.Q1017H CCDC88A_uc010yoz.1_Missense_Mutation_p.Q1018H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q1017H|CCDC88A_uc002ryu.2_Missense_Mutation_p.Q300H|CCDC88A_uc002rys.2_Missense_Mutation_p.Q3H|CCDC88A_uc002ryw.2_Missense_Mutation_p.Q301H|CCDC88A_uc010fby.1_Intron NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1018 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GAGGAGAGCTCTGTACCATCC 0.338 72 159 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56603003 56603003 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:56603003C>G uc002rzn.2 + 5 2007 c.1505C>G c.(1504-1506)TCT>TGT p.S502C NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 502 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCACCCAACTCTGCAGCTAGC 0.433 15 88 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60689006 60689006 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:60689006C>G uc002sae.1 - 4 1269 c.1041G>C c.(1039-1041)CAG>CAC p.Q347H BCL11A_uc002sab.2_Missense_Mutation_p.Q347H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Q313H|BCL11A_uc002sad.1_Missense_Mutation_p.Q195H|BCL11A_uc002saf.1_Missense_Mutation_p.Q313H NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 347 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCTACCTGGCTGGAATGGTT 0.632 T IGH@ B-CLL 9 145 --- --- --- --- PASS PEX13 5194 broad.mit.edu 37 2 61275900 61275900 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:61275900C>G uc002sau.3 + 4 1290 c.1207C>G c.(1207-1209)CTT>GTT p.L403V NM_002618 NP_002609 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 403 Cytoplasmic (Potential). cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) AAAGCAAGATCTTTGATATCT 0.333 24 130 --- --- --- --- PASS TMEM17 200728 broad.mit.edu 37 2 62729924 62729924 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:62729924C>T uc002sbt.2 - 2 446 c.106G>A c.(106-108)GAA>AAA p.E36K TMEM17_uc002sbu.2_Missense_Mutation_p.E36K|TMEM17_uc002sbv.1_Missense_Mutation_p.E11K NM_198276 NP_938017 Q86X19 TMM17_HUMAN transmembrane protein 17 36 integral to membrane 0 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) GAGACCATTTCATTTTCTACA 0.353 25 161 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63092065 63092065 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:63092065C>G uc002sby.2 + 10 1544 c.1062C>G c.(1060-1062)CTC>CTG p.L354L EHBP1_uc010fcp.2_Silent_p.L319L|EHBP1_uc002sbx.2_Silent_p.L319L|EHBP1_uc002sbz.2_Silent_p.L319L|EHBP1_uc002scb.2_Silent_p.L319L NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 354 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GCAAGTACCTCTATGCTGATA 0.373 Hereditary_Prostate_Cancer 27 174 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63175914 63175914 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:63175914G>T uc002sby.2 + 14 2520 c.2038G>T c.(2038-2040)GCA>TCA p.A680S EHBP1_uc010fcp.2_Missense_Mutation_p.A645S|EHBP1_uc002sbz.2_Missense_Mutation_p.A645S|EHBP1_uc002scb.2_Missense_Mutation_p.A645S NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 680 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTCAACCCAAGCACAGGTTTT 0.413 Hereditary_Prostate_Cancer 26 96 --- --- --- --- PASS CEP68 23177 broad.mit.edu 37 2 65299333 65299333 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:65299333C>G uc002sdl.3 + 3 1317 c.1103C>G c.(1102-1104)TCT>TGT p.S368C CEP68_uc002sdj.2_Missense_Mutation_p.S368C|CEP68_uc010yqb.1_Missense_Mutation_p.S368C|CEP68_uc002sdk.3_Missense_Mutation_p.S368C|CEP68_uc010yqc.1_Missense_Mutation_p.S368C|CEP68_uc010yqd.1_Missense_Mutation_p.S368C NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 368 centrosome organization centrosome skin(1) 1 CTGCCATTTTCTGGGCCCAGA 0.577 20 129 --- --- --- --- PASS MTHFD2 10797 broad.mit.edu 37 2 74438937 74438937 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:74438937G>C uc002skk.2 + 7 912 c.833G>C c.(832-834)AGA>ACA p.R278T SLC4A5_uc002skl.2_RNA|MTHFD2_uc002skj.2_Missense_Mutation_p.R176T|MTHFD2_uc010yro.1_Missense_Mutation_p.R176T|MTHFD2_uc010ffb.2_Intron|MTHFD2_uc010yrp.1_Missense_Mutation_p.R114T NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 278 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGAATAAATAGAGTTCACGAT 0.358 25 57 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74598706 74598706 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:74598706G>C uc002skx.2 - 8 914 c.603C>G c.(601-603)CTC>CTG p.L201L DCTN1_uc002skv.2_Silent_p.L67L|DCTN1_uc002sku.2_Silent_p.L67L|DCTN1_uc002skw.1_Silent_p.L177L|DCTN1_uc010ffd.2_Silent_p.L181L|DCTN1_uc002sky.2_Silent_p.L164L NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 201 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 CAGGAGAGGTGAGGACCGGCG 0.647 3 12 --- --- --- --- PASS HTRA2 27429 broad.mit.edu 37 2 74758161 74758161 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:74758161C>G uc002smi.1 + 3 1437 c.835C>G c.(835-837)CAG>GAG p.Q279E AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Missense_Mutation_p.Q279E|HTRA2_uc002sml.1_Missense_Mutation_p.Q279E|HTRA2_uc002smm.1_Missense_Mutation_p.Q20E|HTRA2_uc002smn.1_Missense_Mutation_p.Q20E|HTRA2_uc010ffl.2_Missense_Mutation_p.Q20E NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 279 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 TAGCTCTGCTCAGCGTCCAGC 0.517 57 350 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80801373 80801373 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:80801373C>T uc010ysh.1 + 12 1832 c.1827C>T c.(1825-1827)TTC>TTT p.F609F CTNNA2_uc010yse.1_Silent_p.F609F|CTNNA2_uc010ysf.1_Silent_p.F609F|CTNNA2_uc010ysg.1_Silent_p.F609F|CTNNA2_uc010ysi.1_Silent_p.F241F NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 609 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGAATGAGTTCATCGATGCCT 0.512 30 187 --- --- --- --- PASS ST3GAL5 8869 broad.mit.edu 37 2 86090577 86090577 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:86090577C>T uc002sqq.1 - 2 243 c.114G>A c.(112-114)CTG>CTA p.L38L ST3GAL5_uc010ysy.1_Silent_p.L38L|ST3GAL5_uc010ysz.1_Silent_p.L38L|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Silent_p.L15L NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 38 Cytoplasmic (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 AATCACTTCTCAGTTTCACAT 0.473 29 119 --- --- --- --- PASS CNNM3 26505 broad.mit.edu 37 2 97492602 97492602 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:97492602C>G uc002swy.2 + 3 1426 c.1402C>G c.(1402-1404)CTG>GTG p.L468V CNNM3_uc002swz.2_Missense_Mutation_p.L420V NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 468 ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 GCCTGCTTCTCTGATGGCCCC 0.537 52 305 --- --- --- --- PASS CNNM3 26505 broad.mit.edu 37 2 97492629 97492629 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:97492629G>A uc002swy.2 + 3 1453 c.1429G>A c.(1429-1431)GAG>AAG p.E477K CNNM3_uc002swz.2_Missense_Mutation_p.E429K NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 477 ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 GCGGAAGGAGGAGTTCTCCTT 0.562 34 273 --- --- --- --- PASS CNGA3 1261 broad.mit.edu 37 2 99012792 99012792 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:99012792G>A uc002syt.2 + 8 1576 c.1159G>A c.(1159-1161)GTG>ATG p.V387M CNGA3_uc002syu.2_Missense_Mutation_p.V369M|CNGA3_uc010fij.2_Missense_Mutation_p.V391M NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 387 Helical; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 AGACTTCTTGGTGGGTGTTCT 0.502 75 107 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100168001 100168001 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:100168001C>G uc002tag.2 - 24 3852 c.3616G>C c.(3616-3618)GAG>CAG p.E1206Q AFF3_uc002taf.2_Missense_Mutation_p.E1231Q NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1206 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 ACCAGGTGCTCCATGCTGCTG 0.592 4 62 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109384287 109384287 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:109384287C>A uc002tem.3 + 20 7418 c.7292C>A c.(7291-7293)TCG>TAG p.S2431* NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2431 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GTTGCAGACTCGTTTAAGAAA 0.393 21 454 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112615953 112615953 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:112615953C>G uc002thi.2 - 11 1535 c.1288G>C c.(1288-1290)GTG>CTG p.V430L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 430 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GTAATAAACACTTTTGAGGCT 0.368 6 116 --- --- --- --- PASS PAX8 7849 broad.mit.edu 37 2 113999695 113999695 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:113999695G>T uc010yxt.1 - 6 657 c.491C>A c.(490-492)GCT>GAT p.A164D PAX8_uc010yxu.1_Missense_Mutation_p.A164D|PAX8_uc010yxv.1_Missense_Mutation_p.A164D|PAX8_uc002tjm.2_Missense_Mutation_p.A164D|PAX8_uc002tjn.2_Missense_Mutation_p.A164D|PAX8_uc010fku.1_Missense_Mutation_p.A164D|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 164 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 GGGAGTTACAGCTGAGCTGGG 0.627 T PPARG follicular thyroid Thyroid dysgenesis 6 45 --- --- --- --- PASS MIR1302-3 100302128 broad.mit.edu 37 2 114340561 114340561 + RNA SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:114340561A>T hsa-mir-1302-3|MI0006364 - c.113A>T WASH2P_uc002tka.2_5'Flank|WASH2P_uc002tkb.2_5'Flank 0 tgaatctcagataaacaacca 0.124 9 131 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116520161 116520161 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:116520161C>A uc002tla.1 + 12 1545 c.1088C>A c.(1087-1089)ACA>AAA p.T363K DPP10_uc002tlb.1_Missense_Mutation_p.T313K|DPP10_uc002tlc.1_Missense_Mutation_p.T359K|DPP10_uc002tle.2_Missense_Mutation_p.T367K|DPP10_uc002tlf.1_Missense_Mutation_p.T356K NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 363 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TATGAGATGACATCAGATACG 0.358 26 241 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120643436 120643436 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:120643436G>C uc002tmf.1 + 9 1424 c.653G>C c.(652-654)GGA>GCA p.G218A PTPN4_uc010flj.1_5'UTR NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 218 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GAACTCTATGGAGTTGAATTC 0.333 7 289 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125175063 125175063 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:125175063A>C uc002tno.2 + 4 789 c.425A>C c.(424-426)AAG>ACG p.K142T CNTNAP5_uc010flu.2_Missense_Mutation_p.K142T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 142 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GTGCACCACAAGCTATTGCAC 0.507 11 42 --- --- --- --- PASS IWS1 55677 broad.mit.edu 37 2 128262761 128262761 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:128262761C>A uc002ton.2 - 3 1021 c.718G>T c.(718-720)GAG>TAG p.E240* IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 240 Glu-rich.|1.|3 X approximate tandem repeats. transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GGAAGCTCCTCATTTTCAGAG 0.507 12 559 --- --- --- --- PASS SPOPL 339745 broad.mit.edu 37 2 139316676 139316676 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:139316676G>A uc002tvh.2 + 6 965 c.565G>A c.(565-567)GAT>AAT p.D189N NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 189 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) TCTAGCAGAAGATTTAGGTAA 0.378 66 168 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141055416 141055416 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:141055416G>A uc002tvj.1 - 84 13900 c.12928C>T c.(12928-12930)CAC>TAC p.H4310Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4310 Extracellular (Potential).|EGF-like 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCTGGCAGTGGCAGTAAGGC 0.468 TSP Lung(27;0.18) 193 307 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141665461 141665461 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:141665461C>T uc002tvj.1 - 22 4477 c.3505G>A c.(3505-3507)GAA>AAA p.E1169K LRP1B_uc010fnl.1_Missense_Mutation_p.E351K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1169 Extracellular (Potential).|LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGATAGCCTTCATCAGAGCCA 0.428 TSP Lung(27;0.18) 47 374 --- --- --- --- PASS ACVR2A 92 broad.mit.edu 37 2 148653896 148653896 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:148653896C>T uc002twg.2 + 3 351 c.82C>T c.(82-84)CAG>TAG p.Q28* ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Nonsense_Mutation_p.Q28* NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 28 Extracellular (Potential). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) ATCAGAAACTCAGGAGTGTCT 0.338 31 214 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152314350 152314350 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:152314350G>C uc002txm.2 + 24 2858 c.2728G>C c.(2728-2730)GAA>CAA p.E910Q RIF1_uc002txl.2_Missense_Mutation_p.E910Q|RIF1_uc002txn.2_Missense_Mutation_p.E910Q|RIF1_uc002txo.2_Missense_Mutation_p.E910Q NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 910 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGAACTTCTTGAACAACTCTC 0.368 4 184 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152496966 152496966 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:152496966C>G uc010fnx.2 - 61 8779 c.8588G>C c.(8587-8589)AGC>ACC p.S2863T NEB_uc002txu.2_5'Flank NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2863 Nebulin 77. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTCCACATCGCTGACTAAGGT 0.567 75 460 --- --- --- --- PASS PRPF40A 55660 broad.mit.edu 37 2 153537844 153537844 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:153537844T>C uc002tyi.2 - 6 446 c.433A>G c.(433-435)ATG>GTG p.M145V PRPF40A_uc002tyh.3_Missense_Mutation_p.M118V|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Missense_Mutation_p.M14V|PRPF40A_uc002tyl.1_Missense_Mutation_p.M145V NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 145 WW 1. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TCAGTCCACATTGATTTCTAA 0.323 53 312 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155102386 155102386 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:155102386G>T uc002tyr.3 + 7 1315 c.748G>T c.(748-750)GGG>TGG p.G250W GALNT13_uc002tyt.3_Missense_Mutation_p.G250W|GALNT13_uc010foc.1_Missense_Mutation_p.G69W|GALNT13_uc010fod.2_Missense_Mutation_p.G3W NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 250 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ATATATGGCTGGGTCAGACAT 0.393 23 202 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155102387 155102387 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:155102387G>T uc002tyr.3 + 7 1316 c.749G>T c.(748-750)GGG>GTG p.G250V GALNT13_uc002tyt.3_Missense_Mutation_p.G250V|GALNT13_uc010foc.1_Missense_Mutation_p.G69V|GALNT13_uc010fod.2_Missense_Mutation_p.G3V NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 250 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TATATGGCTGGGTCAGACATG 0.393 21 200 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155566136 155566136 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:155566136G>A uc002tyv.1 + 2 919 c.724G>A c.(724-726)GAG>AAG p.E242K KCNJ3_uc010zce.1_Intron NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 242 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) ACCTGAGGGTGAGTTCCTTCC 0.453 8 127 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158162286 158162286 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:158162286G>A uc002tzg.2 + 8 2720 c.2465G>A c.(2464-2466)TGC>TAC p.C822Y GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 822 Lumenal (Potential).|Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TTGGGTAAATGCATTTCCATT 0.348 12 134 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159477908 159477908 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:159477908G>C uc002tzv.2 + 6 838 c.578G>C c.(577-579)AGA>ACA p.R193T PKP4_uc002tzt.1_Missense_Mutation_p.R45T|PKP4_uc002tzu.2_Missense_Mutation_p.R193T|PKP4_uc002tzw.2_Missense_Mutation_p.R193T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R191T|PKP4_uc002uaa.2_Missense_Mutation_p.R45T NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 193 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 AGGAATTCAAGAGCTGAAGGA 0.388 HNSCC(62;0.18) 7 86 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159499115 159499115 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:159499115G>A uc002tzv.2 + 11 2073 c.1813G>A c.(1813-1815)GAA>AAA p.E605K PKP4_uc002tzt.1_Missense_Mutation_p.E457K|PKP4_uc002tzu.2_Missense_Mutation_p.E605K|PKP4_uc002tzw.2_Missense_Mutation_p.E605K|PKP4_uc002tzx.2_Missense_Mutation_p.E262K|PKP4_uc002tzy.1_Missense_Mutation_p.E263K|PKP4_uc002tzz.1_Missense_Mutation_p.E603K|PKP4_uc002uaa.2_Missense_Mutation_p.E457K NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 605 ARM 4. cell adhesion desmosome protein binding ovary(5)|skin(2) 7 GTCTACAGATGAAAATAAAAT 0.423 HNSCC(62;0.18) 20 207 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159536975 159536975 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:159536975A>G uc002tzv.2 + 22 3625 c.3365A>G c.(3364-3366)AAC>AGC p.N1122S PKP4_uc002tzw.2_Missense_Mutation_p.N1079S|PKP4_uc002tzx.2_Missense_Mutation_p.N779S|PKP4_uc002uaa.2_Missense_Mutation_p.N931S|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.N303S|PKP4_uc002uad.2_RNA NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 1122 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 GATGACTCCAACAGAAAGAAC 0.328 HNSCC(62;0.18) 39 250 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160205325 160205325 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:160205325C>T uc002uao.2 - 30 5509 c.5157G>A c.(5155-5157)TGG>TGA p.W1719* BAZ2B_uc002uap.2_Nonsense_Mutation_p.W1683* NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1719 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CAATAATTCTCCACCAACCAA 0.323 8 155 --- --- --- --- PASS PLA2R1 22925 broad.mit.edu 37 2 160836387 160836387 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:160836387C>G uc002ube.1 - 14 2429 c.2222G>C c.(2221-2223)AGA>ACA p.R741T PLA2R1_uc010zcp.1_Missense_Mutation_p.R741T|PLA2R1_uc002ubf.2_Missense_Mutation_p.R741T NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 741 Extracellular (Potential).|C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CAGTGGGTTTCTTTTATTAAA 0.403 21 100 --- --- --- --- PASS TANK 10010 broad.mit.edu 37 2 162088005 162088005 + Silent SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:162088005T>A uc002ubr.1 + 7 1202 c.1044T>A c.(1042-1044)TCT>TCA p.S348S TANK_uc002ubs.2_Silent_p.S348S NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 348 cytosol metal ion binding|protein binding ovary(1) 1 TGGACCCATCTGATGCACCTT 0.433 12 151 --- --- --- --- PASS TANK 10010 broad.mit.edu 37 2 162088022 162088022 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:162088022C>G uc002ubr.1 + 7 1219 c.1061C>G c.(1060-1062)TCA>TGA p.S354* TANK_uc002ubs.2_Nonsense_Mutation_p.S354* NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 354 cytosol metal ion binding|protein binding ovary(1) 1 CCTTTTCCCTCACTCGATTCC 0.433 11 132 --- --- --- --- PASS PSMD14 10213 broad.mit.edu 37 2 162175349 162175349 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:162175349C>G uc002ubu.2 + 3 480 c.13C>G c.(13-15)CTT>GTT p.L5V NM_005805 NP_005796 O00487 PSDE_HUMAN proteasome 26S subunit, non-ATPase 14 5 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1) 1 GGACAGACTTCTTAGACTTGG 0.368 10 80 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163302603 163302603 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:163302603G>A uc002uch.1 - 7 1691 c.1479C>T c.(1477-1479)TTC>TTT p.F493F KCNH7_uc002uci.2_Silent_p.F486F NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 493 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ACCAGCCTTTGAAGTAGTGTA 0.343 17 115 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166771904 166771904 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:166771904C>T uc002udk.2 - 15 2078 c.1945G>A c.(1945-1947)GGA>AGA p.G649R NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 649 TPR 8. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TCAGATGTTCCAGAAAATTCA 0.383 74 549 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167279877 167279877 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:167279877C>T uc002udu.1 - 18 3046 c.2919G>A c.(2917-2919)ATG>ATA p.M973I SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 973 Helical; Name=S2 of repeat III; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AAGTAAAGATCATGTCAGCAT 0.328 30 48 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168099484 168099484 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:168099484C>G uc002udx.2 + 8 1600 c.1582C>G c.(1582-1584)CAA>GAA p.Q528E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q353E|XIRP2_uc010fpq.2_Missense_Mutation_p.Q306E|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 353 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGTTTCTAGTCAAATGAACTC 0.338 9 75 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106531 168106531 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:168106531G>A uc002udx.2 + 8 8647 c.8629G>A c.(8629-8631)GCT>ACT p.A2877T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A2702T|XIRP2_uc010fpq.2_Missense_Mutation_p.A2655T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.A223T NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2702 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATACAGACCGCTGAAAGTAA 0.388 28 185 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170090056 170090056 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:170090056C>G uc002ues.2 - 30 5176 c.4963G>C c.(4963-4965)GTG>CTG p.V1655L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1655 LDL-receptor class B 14.|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) GTCCAGTACACAGAGTCTTCA 0.488 11 107 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171264306 171264306 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:171264306G>C uc002ufy.2 + 22 2745 c.2602G>C c.(2602-2604)GAA>CAA p.E868Q MYO3B_uc002ufv.2_Missense_Mutation_p.E855Q|MYO3B_uc010fqb.1_Missense_Mutation_p.E855Q|MYO3B_uc002ufz.2_Missense_Mutation_p.E868Q|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 868 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GAGAACGTCAGAAAACAAGCT 0.453 54 317 --- --- --- --- PASS ITGA6 3655 broad.mit.edu 37 2 173352699 173352699 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:173352699C>G uc002uhp.1 + 18 2538 c.2335C>G c.(2335-2337)CAA>GAA p.Q779E ITGA6_uc010zdy.1_Missense_Mutation_p.Q660E|ITGA6_uc002uho.1_Missense_Mutation_p.Q779E|ITGA6_uc010fqm.1_Missense_Mutation_p.Q425E NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 818 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AACAAGCAATCAAGATAATTT 0.358 24 274 --- --- --- --- PASS RAPGEF4 11069 broad.mit.edu 37 2 173850168 173850168 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:173850168G>C uc002uhv.3 + 12 1284 c.1097G>C c.(1096-1098)CGA>CCA p.R366P RAPGEF4_uc002uhu.2_Missense_Mutation_p.R366P|RAPGEF4_uc002uhw.3_Missense_Mutation_p.R222P|RAPGEF4_uc010zec.1_Missense_Mutation_p.R213P|RAPGEF4_uc010zed.1_Missense_Mutation_p.R195P|RAPGEF4_uc010zee.1_Missense_Mutation_p.R213P|RAPGEF4_uc010fqo.2_Missense_Mutation_p.R195P|RAPGEF4_uc010zef.1_Missense_Mutation_p.R146P|RAPGEF4_uc010zeg.1_Missense_Mutation_p.R193P|RAPGEF4_uc010fqp.1_Missense_Mutation_p.R146P|RAPGEF4_uc010zeh.1_Missense_Mutation_p.R146P NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 366 cAMP 2. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TAGGTGAAACGAGAGTTAGCA 0.483 6 435 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176812411 176812411 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:176812411T>A uc002ukc.1 - 9 696 c.503A>T c.(502-504)CAG>CTG p.Q168L KIAA1715_uc010zer.1_Missense_Mutation_p.Q168L|KIAA1715_uc010fqw.1_Missense_Mutation_p.Q234L|KIAA1715_uc010zes.1_Missense_Mutation_p.Q170L|KIAA1715_uc002ukd.1_Missense_Mutation_p.Q45L|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 168 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TGCAGTTCGCTGACGAATCTC 0.413 31 156 --- --- --- --- PASS DFNB59 494513 broad.mit.edu 37 2 179319148 179319148 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179319148G>C uc002umi.3 + 3 657 c.301G>C c.(301-303)GGG>CGG p.G101R DFNB59_uc002umj.3_Missense_Mutation_p.G101R NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 101 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAATGACGTTGGGATTAACGT 0.338 7 187 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179407873 179407873 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179407873C>G uc010zfg.1 - 296 89347 c.89123G>C c.(89122-89124)AGA>ACA p.R29708T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23403T|TTN_uc010zfi.1_Missense_Mutation_p.R23336T|TTN_uc010zfj.1_Missense_Mutation_p.R23211T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30635 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) TGCCCTTATTCTAAATAAGTA 0.418 86 540 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179408933 179408933 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179408933C>G uc010zfg.1 - 294 88543 c.88319G>C c.(88318-88320)AGA>ACA p.R29440T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23135T|TTN_uc010zfi.1_Missense_Mutation_p.R23068T|TTN_uc010zfj.1_Missense_Mutation_p.R22943T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30367 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) AATACCTATTCTTTCCACGGG 0.373 33 130 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179412489 179412489 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179412489C>T uc010zfg.1 - 288 86384 c.86160G>A c.(86158-86160)TTG>TTA p.L28720L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L22415L|TTN_uc010zfi.1_Silent_p.L22348L|TTN_uc010zfj.1_Silent_p.L22223L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29647 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) TTTCCAGGGTCAAGAAGTATC 0.458 57 75 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179426190 179426190 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179426190C>G uc010zfg.1 - 275 77189 c.76965G>C c.(76963-76965)CTG>CTC p.L25655L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L19350L|TTN_uc010zfi.1_Silent_p.L19283L|TTN_uc010zfj.1_Silent_p.L19158L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26582 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) ACTCATACATCAGTCCTTCAT 0.393 35 232 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179447699 179447699 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179447699G>C uc010zfg.1 - 262 58351 c.58127C>G c.(58126-58128)TCT>TGT p.S19376C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S13071C|TTN_uc010zfi.1_Missense_Mutation_p.S13004C|TTN_uc010zfj.1_Missense_Mutation_p.S12879C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20303 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) GGCTGATTTAGAACCACTTGA 0.398 7 54 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179471884 179471884 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179471884T>C uc010zfg.1 - 227 45965 c.45741A>G c.(45739-45741)ATA>ATG p.I15247M uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8942M|TTN_uc010zfi.1_Missense_Mutation_p.I8875M|TTN_uc010zfj.1_Missense_Mutation_p.I8750M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16174 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) TCTCAGTCTCTATTGGTTGTC 0.418 58 362 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179516856 179516856 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179516856T>C uc010zfg.1 - 158 32184 c.31960A>G c.(31960-31962)ATT>GTT p.I10654V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11581 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) TTGGGAGGAATAGCTTCAGGC 0.343 25 212 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179638667 179638667 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179638667G>C uc010zfg.1 - 31 7452 c.7228C>G c.(7228-7230)CAT>GAT p.H2410D TTN_uc010zfh.1_Missense_Mutation_p.H2364D|TTN_uc010zfi.1_Missense_Mutation_p.H2364D|TTN_uc010zfj.1_Missense_Mutation_p.H2364D|TTN_uc002unb.2_Missense_Mutation_p.H2410D|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2410 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) AGCAGCATATGAGATTGTTTG 0.478 20 230 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640827 179640827 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179640827C>T uc010zfg.1 - 28 5988 c.5764G>A c.(5764-5766)GAG>AAG p.E1922K TTN_uc010zfh.1_Missense_Mutation_p.E1876K|TTN_uc010zfi.1_Missense_Mutation_p.E1876K|TTN_uc010zfj.1_Missense_Mutation_p.E1876K|TTN_uc002unb.2_Missense_Mutation_p.E1922K|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1922 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) ACTTTATGCTCTATCACACCT 0.463 62 450 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179642692 179642692 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179642692G>A uc010zfg.1 - 25 4443 c.4219C>T c.(4219-4221)CCA>TCA p.P1407S TTN_uc010zfh.1_Missense_Mutation_p.P1361S|TTN_uc010zfi.1_Missense_Mutation_p.P1361S|TTN_uc010zfj.1_Missense_Mutation_p.P1361S|TTN_uc002unb.2_Missense_Mutation_p.P1407S|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1407 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) ACTGAACGTGGAGAGAGAGAT 0.448 8 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179659746 179659746 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179659746T>A uc010zfg.1 - 7 1372 c.1148A>T c.(1147-1149)CAG>CTG p.Q383L TTN_uc010zfh.1_Missense_Mutation_p.Q383L|TTN_uc010zfi.1_Missense_Mutation_p.Q383L|TTN_uc010zfj.1_Missense_Mutation_p.Q383L|TTN_uc002unb.2_Missense_Mutation_p.Q383L|TTN_uc010frg.1_Missense_Mutation_p.Q57L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 383 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) CACTTGCTCCTGGACACCGTA 0.567 20 139 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179718259 179718259 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:179718259G>T uc002unf.1 - 10 1485 c.1428C>A c.(1426-1428)CTC>CTA p.L476L NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 476 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ACTGCTGGTGGAGAATTTTCA 0.423 32 201 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182403949 182403949 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:182403949T>C uc002unx.2 - 13 1587 c.1486A>G c.(1486-1488)AAA>GAA p.K496E CERKL_uc002uny.2_Missense_Mutation_p.K470E|CERKL_uc010zfm.1_Missense_Mutation_p.K452E|CERKL_uc002unz.2_Missense_Mutation_p.K218E|CERKL_uc002uoa.2_Missense_Mutation_p.K401E|CERKL_uc002uob.2_Missense_Mutation_p.K218E|CERKL_uc002uoc.2_Missense_Mutation_p.K357E|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.K66E NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 496 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGATGAACTTTTACTTCCTCA 0.343 30 185 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182763809 182763809 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:182763809G>T uc002uoi.2 + 6 795 c.473G>T c.(472-474)GGA>GTA p.G158V SSFA2_uc002uoh.2_Missense_Mutation_p.G158V|SSFA2_uc002uoj.2_Missense_Mutation_p.G158V|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.G5V|SSFA2_uc002uol.2_Missense_Mutation_p.G5V NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 158 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AATTCCACTGGATCTGGGAAA 0.328 35 84 --- --- --- --- PASS FAM171B 165215 broad.mit.edu 37 2 187627189 187627189 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:187627189C>G uc002ups.2 + 8 2232 c.2120C>G c.(2119-2121)TCT>TGT p.S707C FAM171B_uc002upr.1_Missense_Mutation_p.S674C|FAM171B_uc002upt.2_Missense_Mutation_p.S176C NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 707 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AGTCTGGACTCTGGGGTGGAC 0.453 14 98 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189968994 189968994 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:189968994C>T uc002uqk.2 - 3 607 c.332G>A c.(331-333)AGA>AAA p.R111K NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 111 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACTTACCTTTCTTCCTCTACC 0.294 11 223 --- --- --- --- PASS ASNSD1 54529 broad.mit.edu 37 2 190531684 190531684 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:190531684G>A uc002uqt.2 + 4 1260 c.826G>A c.(826-828)GAT>AAT p.D276N NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 276 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) CTTTCTTACTGATGTACACAT 0.403 20 420 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190719442 190719442 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:190719442G>A uc002urh.3 + 9 1973 c.1444G>A c.(1444-1446)GAG>AAG p.E482K PMS1_uc010zga.1_Missense_Mutation_p.E443K|PMS1_uc010zgb.1_Missense_Mutation_p.E421K|PMS1_uc002urk.3_Missense_Mutation_p.E443K|PMS1_uc002uri.3_Missense_Mutation_p.E482K|PMS1_uc010zgc.1_Missense_Mutation_p.E306K|PMS1_uc010zgd.1_Missense_Mutation_p.E306K|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.E443K|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.E267K|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.E150K NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 482 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TGGGGAAAATGAGGAAGAAGC 0.388 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 4 151 --- --- --- --- PASS INPP1 3628 broad.mit.edu 37 2 191233948 191233948 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:191233948C>T uc002ury.3 + 6 1286 c.586C>T c.(586-588)CCC>TCC p.P196S INPP1_uc010fsb.2_Missense_Mutation_p.P196S|INPP1_uc002urx.3_Missense_Mutation_p.P196S NM_001128928 NP_001122400 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 196 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GACAGGGGTTCCCCTGATGGG 0.413 52 281 --- --- --- --- PASS SDPR 8436 broad.mit.edu 37 2 192700675 192700675 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:192700675C>A uc002utb.2 - 2 1582 c.1252G>T c.(1252-1254)GTG>TTG p.V418L NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 418 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ACCTGGAGCACGGCGGGCTGC 0.627 59 75 --- --- --- --- PASS BOLL 66037 broad.mit.edu 37 2 198646462 198646462 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:198646462C>G uc002uus.2 - 2 423 c.113G>C c.(112-114)GGA>GCA p.G38A BOLL_uc002uur.2_Missense_Mutation_p.G44A|BOLL_uc002uut.2_Missense_Mutation_p.G50A|BOLL_uc010zha.1_5'UTR|BOLL_uc002uuu.1_Missense_Mutation_p.G44A NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 38 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 ATCAATTCCTCCTACAAAGAT 0.358 41 300 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200193475 200193475 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:200193475A>G uc002uuy.1 - 8 2149 c.1332T>C c.(1330-1332)AAT>AAC p.N444N SATB2_uc010fsq.1_Silent_p.N326N|SATB2_uc002uuz.1_Silent_p.N444N|SATB2_uc002uva.1_Silent_p.N444N NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 444 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CCATGCTCACATTGGGATTCA 0.517 27 164 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202545689 202545689 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:202545689T>C uc002uyk.3 - 10 1009 c.801A>G c.(799-801)GGA>GGG p.G267G MPP4_uc010ftj.2_Silent_p.G267G|MPP4_uc010zhq.1_Silent_p.G267G|MPP4_uc010zhr.1_Silent_p.G267G|MPP4_uc010zhs.1_Silent_p.G223G|MPP4_uc002uyj.3_Silent_p.G223G|MPP4_uc010zht.1_Silent_p.G240G|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.G254G|MPP4_uc002uym.1_Silent_p.G236G|MPP4_uc002uyn.2_Silent_p.G223G NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 267 SH3. cytoplasm protein binding 0 GGAAAGGCAATCCAGCGTCCA 0.577 OREG0015145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 78 --- --- --- --- PASS CD28 940 broad.mit.edu 37 2 204599596 204599596 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:204599596C>T uc002vah.3 + 4 846 c.624C>T c.(622-624)CCC>CCT p.P208P CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Silent_p.P89P|CD28_uc002vaj.3_RNA NM_006139 NP_006130 P10747 CD28_HUMAN CD28 antigen precursor 208 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity 0 ATTACCAGCCCTATGCCCCAC 0.622 5 149 --- --- --- --- PASS CPO 130749 broad.mit.edu 37 2 207814364 207814364 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:207814364A>T uc002vby.2 + 2 138 c.92A>T c.(91-93)GAG>GTG p.E31V NM_173077 NP_775100 Q8IVL8 CBPO_HUMAN carboxypeptidase O precursor 31 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|ovary(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) CACAGACAAGAGATTGTGGAC 0.478 33 123 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209201606 209201606 + Nonsense_Mutation SNP C G G rs35021350 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:209201606C>G uc002vcz.2 + 28 4723 c.4565C>G c.(4564-4566)TCA>TGA p.S1522* NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1522 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 AAGAGACCTTCAGTTCCTCCA 0.388 18 94 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211502431 211502431 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:211502431C>G uc002vee.3 + 22 2825 c.2693C>G c.(2692-2694)TCC>TGC p.S898C CPS1_uc010fur.2_Missense_Mutation_p.S904C|CPS1_uc010fus.2_Missense_Mutation_p.S447C NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 898 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTAGTGAGTCCATGACAGAA 0.413 30 128 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212566791 212566791 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:212566791T>C uc002veg.1 - 12 1488 c.1390A>G c.(1390-1392)AGC>GGC p.S464G ERBB4_uc002veh.1_Missense_Mutation_p.S464G|ERBB4_uc010zji.1_Missense_Mutation_p.S464G|ERBB4_uc010zjj.1_Missense_Mutation_p.S464G|ERBB4_uc010fut.1_Missense_Mutation_p.S464G NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 464 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CACAGGTTGCTGTTGTCAGTA 0.433 TSP Lung(8;0.080) 62 254 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216285490 216285490 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:216285490C>G uc002vfa.2 - 11 1847 c.1581G>C c.(1579-1581)GTG>GTC p.V527V FN1_uc002vfb.2_Silent_p.V527V|FN1_uc002vfc.2_Silent_p.V527V|FN1_uc002vfd.2_Silent_p.V527V|FN1_uc002vfe.2_Silent_p.V527V|FN1_uc002vff.2_Silent_p.V527V|FN1_uc002vfg.2_Silent_p.V527V|FN1_uc002vfh.2_Silent_p.V527V|FN1_uc002vfi.2_Silent_p.V527V|FN1_uc002vfj.2_Silent_p.V527V|FN1_uc002vfl.2_Silent_p.V527V NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 527 Collagen-binding.|Fibronectin type-I 8. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGTGTCGTTCACATTGTAAG 0.458 18 113 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216289013 216289013 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:216289013C>G uc002vfa.2 - 8 1338 c.1072G>C c.(1072-1074)GAG>CAG p.E358Q FN1_uc002vfb.2_Missense_Mutation_p.E358Q|FN1_uc002vfc.2_Missense_Mutation_p.E358Q|FN1_uc002vfd.2_Missense_Mutation_p.E358Q|FN1_uc002vfe.2_Missense_Mutation_p.E358Q|FN1_uc002vff.2_Missense_Mutation_p.E358Q|FN1_uc002vfg.2_Missense_Mutation_p.E358Q|FN1_uc002vfh.2_Missense_Mutation_p.E358Q|FN1_uc002vfi.2_Missense_Mutation_p.E358Q|FN1_uc002vfj.2_Missense_Mutation_p.E358Q|FN1_uc002vfl.2_Missense_Mutation_p.E358Q NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 358 Fibronectin type-II 1.|Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACATGGCTCTCCATTTGAG 0.478 32 158 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219870931 219870931 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:219870931G>C uc002vjl.1 - 31 4818 c.4734C>G c.(4732-4734)ATC>ATG p.I1578M NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1578 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGGTTCTTGATGGGAGGCA 0.607 4 118 --- --- --- --- PASS STK16 8576 broad.mit.edu 37 2 220111441 220111441 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:220111441G>A uc002vko.2 + 3 306 c.149G>A c.(148-150)CGA>CAA p.R50Q GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Missense_Mutation_p.R50Q|STK16_uc010fwf.2_Missense_Mutation_p.R50Q|STK16_uc002vkp.2_Missense_Mutation_p.R50Q|STK16_uc002vkr.2_5'UTR|STK16_uc002vkq.2_Missense_Mutation_p.R95Q NM_001008910 NP_001008910 O75716 STK16_HUMAN serine/threonine kinase 16 50 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCTGAAGCGAATCCTGTGT 0.567 10 63 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225339017 225339017 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:225339017C>G uc002vny.2 - 16 2636 c.2252G>C c.(2251-2253)AGA>ACA p.R751T CUL3_uc010zls.1_Missense_Mutation_p.R685T|CUL3_uc010fwy.1_Missense_Mutation_p.R757T NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 751 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CAAATATTCTCTCTCAATAAG 0.363 9 145 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226446958 226446958 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:226446958C>T uc002voe.2 + 4 1000 c.825C>T c.(823-825)ATC>ATT p.I275I KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.I45I NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 275 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGTACCCTATCTTTGACGACT 0.542 43 106 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882974 228882974 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:228882974T>A uc002vpq.2 - 7 2643 c.2596A>T c.(2596-2598)AGC>TGC p.S866C SPHKAP_uc002vpp.2_Missense_Mutation_p.S866C|SPHKAP_uc010zlx.1_Missense_Mutation_p.S866C NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 866 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGGACTGGCTGACCGTTGGG 0.483 154 771 --- --- --- --- PASS NCL 4691 broad.mit.edu 37 2 232322396 232322396 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:232322396G>C uc002vru.2 - 9 1546 c.1405C>G c.(1405-1407)CAA>GAA p.Q469E SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN nucleolin 469 angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding ovary(2)|pancreas(1) 3 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TCTTGATTTTGACCTTTCTCT 0.413 25 245 --- --- --- --- PASS CHRND 1144 broad.mit.edu 37 2 233393325 233393325 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:233393325C>G uc002vsw.2 + 5 472 c.468C>G c.(466-468)ACC>ACG p.T156T CHRND_uc010zmg.1_Silent_p.T141T|CHRND_uc010fyc.2_Missense_Mutation_p.P66R|CHRND_uc010zmh.1_Missense_Mutation_p.P66R NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 156 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCTCTGTCACCTATTTCCCCT 0.577 43 110 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 239990202 239990202 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:239990202T>C uc002vyk.3 - 23 3629 c.2837A>G c.(2836-2838)TAC>TGC p.Y946C HDAC4_uc010fyy.2_Missense_Mutation_p.Y903C NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 946 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GGAGAGGTTGTAGCCCCCAAG 0.597 8 64 --- --- --- --- PASS RNPEPL1 57140 broad.mit.edu 37 2 241516041 241516041 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:241516041G>C uc002vzi.2 + 9 1500 c.907G>C c.(907-909)GAG>CAG p.E303Q RNPEPL1_uc010fzf.2_Missense_Mutation_p.E209Q|RNPEPL1_uc002vzj.2_5'UTR NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 303 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CCGGCCCGTGGAGGCCCTTTT 0.652 3 102 --- --- --- --- PASS SNED1 25992 broad.mit.edu 37 2 241976764 241976764 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:241976764G>C uc002wah.1 + 6 1039 c.1039G>C c.(1039-1041)GAG>CAG p.E347Q NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 347 EGF-like 2. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) ACCCACCTGTGAGACAGGTAA 0.637 5 16 --- --- --- --- PASS C2orf85 285093 broad.mit.edu 37 2 242814881 242814881 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr2:242814881G>T uc010fzu.1 + 2 1197 c.1174G>T c.(1174-1176)GGA>TGA p.G392* NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 392 integral to membrane ovary(1) 1 CGGGAAGGAAGGAGGCGGCCA 0.627 6 42 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 407692 407692 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:407692G>C uc003bou.2 + 14 1868 c.1597G>C c.(1597-1599)GAA>CAA p.E533Q CHL1_uc003bot.2_Missense_Mutation_p.E549Q|CHL1_uc003bow.1_Missense_Mutation_p.E533Q|CHL1_uc011asi.1_Missense_Mutation_p.E549Q|uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 533 Ig-like C2-type 6.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GCATATGCTTGAATTACATTG 0.353 18 134 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 3084769 3084769 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:3084769C>T uc003bpc.2 + 21 2841 c.2620C>T c.(2620-2622)CAC>TAC p.H874Y CNTN4_uc003bpb.1_Missense_Mutation_p.H545Y|CNTN4_uc003bpe.2_Missense_Mutation_p.H546Y|CNTN4_uc003bpf.2_Missense_Mutation_p.H545Y|CNTN4_uc003bpg.2_Missense_Mutation_p.H130Y NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 874 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGTGCTGTATCACTTAGCTGT 0.418 16 103 --- --- --- --- PASS ITPR1 3708 broad.mit.edu 37 3 4716893 4716893 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:4716893G>A uc003bqa.2 + 23 3088 c.2740G>A c.(2740-2742)GAA>AAA p.E914K ITPR1_uc010hca.1_Missense_Mutation_p.E899K|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E899K NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 914 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGCGAAAGGAGAAGAGAATAA 0.448 11 98 --- --- --- --- PASS RAD18 56852 broad.mit.edu 37 3 8940593 8940593 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:8940593G>T uc003brd.2 - 11 1384 c.1307C>A c.(1306-1308)TCA>TAA p.S436* RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 436 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) GCATGAATCTGATTCTGATGA 0.348 Rad6_pathway 11 138 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9784741 9784741 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:9784741C>G uc003bse.2 + 7 2496 c.2097C>G c.(2095-2097)CTC>CTG p.L699L BRPF1_uc003bsf.2_Silent_p.L705L|BRPF1_uc003bsg.2_Silent_p.L699L|BRPF1_uc011ati.1_Silent_p.L699L NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 699 Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.|Bromo. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) ACTTCAACCTCATCGTCAGCA 0.522 35 104 --- --- --- --- PASS TTLL3 26140 broad.mit.edu 37 3 9868872 9868872 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:9868872G>C uc003btg.2 + 9 1282 c.1066G>C c.(1066-1068)GAC>CAC p.D356H ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.D323H|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Missense_Mutation_p.D292H|TTLL3_uc003bth.3_Missense_Mutation_p.D144H|TTLL3_uc011atj.1_Missense_Mutation_p.D292H|TTLL3_uc003btj.3_Missense_Mutation_p.D144H|TTLL3_uc003bti.3_Missense_Mutation_p.D144H|TTLL3_uc003btk.2_Missense_Mutation_p.D159H NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 356 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) GTTCTACCGCGACAGCTATAT 0.393 9 142 --- --- --- --- PASS PRRT3 285368 broad.mit.edu 37 3 9991146 9991146 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:9991146G>A uc003bul.2 - 2 784 c.654C>T c.(652-654)GTC>GTT p.V218V CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA|PRRT3_uc003bum.2_Silent_p.V218V NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 218 Extracellular (Potential). integral to membrane 0 CTGGCCTCTTGACAGTACCTG 0.592 5 81 --- --- --- --- PASS TATDN2 9797 broad.mit.edu 37 3 10318076 10318076 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:10318076C>G uc003bvg.2 + 5 2446 c.1865C>G c.(1864-1866)TCT>TGT p.S622C TATDN2_uc003bvf.2_Missense_Mutation_p.S622C|TATDN2_uc011atr.1_Missense_Mutation_p.S622C|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 622 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 CTGGCTGTGTCTCTAAAGAAG 0.493 39 106 --- --- --- --- PASS SEC13 6396 broad.mit.edu 37 3 10343031 10343031 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:10343031C>G uc003bvn.2 - 9 1002 c.883G>C c.(883-885)GGG>CGG p.G295R SEC13_uc003bvl.2_Missense_Mutation_p.G227R|SEC13_uc003bvm.2_Missense_Mutation_p.G281R|SEC13_uc003bvp.2_Missense_Mutation_p.G298R|SEC13_uc003bvo.2_Missense_Mutation_p.G341R|SEC13_uc003bvq.1_Intron NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 295 WD 6. COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 ACCCACTGCCCATCAACTGAC 0.567 4 85 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11399906 11399906 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:11399906C>G uc003bwc.2 + 13 1416 c.1299C>G c.(1297-1299)TTC>TTG p.F433L ATG7_uc003bwd.2_Missense_Mutation_p.F433L|ATG7_uc011aum.1_Missense_Mutation_p.F394L NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 433 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 CCAGAGGATTCAACATGAGCA 0.512 63 258 --- --- --- --- PASS SATB1 6304 broad.mit.edu 37 3 18390710 18390710 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:18390710C>G uc003cbh.2 - 11 3979 c.2244G>C c.(2242-2244)GAG>GAC p.E748D SATB1_uc003cbi.2_Missense_Mutation_p.E780D|SATB1_uc003cbj.2_Missense_Mutation_p.E748D NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 748 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 CCACTGACAGCTCTTCTTCTA 0.358 40 217 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19554619 19554619 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:19554619A>T uc003cbk.1 + 13 2432 c.2237A>T c.(2236-2238)AAA>ATA p.K746I KCNH8_uc010hex.1_Missense_Mutation_p.K207I NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 746 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GGAAGCAATAAAGCCTACCTG 0.438 19 103 --- --- --- --- PASS TOP2B 7155 broad.mit.edu 37 3 25657068 25657068 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:25657068C>G uc011awn.1 - 26 3404 c.3361G>C c.(3361-3363)GAG>CAG p.E1121Q TOP2B_uc003cdj.2_Missense_Mutation_p.E1116Q|TOP2B_uc011awm.1_5'UTR|TOP2B_uc010hff.1_Intron NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 1121 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GTTTCATCCTCTTCTGCTGCC 0.303 5 9 --- --- --- --- PASS SLC4A7 9497 broad.mit.edu 37 3 27477968 27477968 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:27477968G>C uc003cdv.2 - 5 544 c.473C>G c.(472-474)TCT>TGT p.S158C SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.S163C|SLC4A7_uc011aww.1_Missense_Mutation_p.S167C|SLC4A7_uc011awx.1_Missense_Mutation_p.S167C|SLC4A7_uc011awy.1_Missense_Mutation_p.S163C|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.S163C|SLC4A7_uc011axb.1_Missense_Mutation_p.S167C|SLC4A7_uc010hfm.2_Missense_Mutation_p.S163C|SLC4A7_uc003cdw.2_Missense_Mutation_p.S158C NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 158 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 ACTGTGCAAAGAGAGAGTTGC 0.383 13 89 --- --- --- --- PASS SLC4A7 9497 broad.mit.edu 37 3 27498162 27498162 + Missense_Mutation SNP G A A rs144006432 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:27498162G>A uc003cdv.2 - 1 84 c.13C>T c.(13-15)CGT>TGT p.R5C SLC4A7_uc011awu.1_Intron|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Intron|SLC4A7_uc011awx.1_Intron|SLC4A7_uc011awy.1_Intron|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Intron|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Missense_Mutation_p.R5C NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 5 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TTCTCCAGACGAAATCTTTCC 0.343 25 91 --- --- --- --- PASS DLEC1 9940 broad.mit.edu 37 3 38158765 38158765 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:38158765G>C uc003cho.1 + 31 4393 c.4372G>C c.(4372-4374)GAC>CAC p.D1458H DLEC1_uc003chp.1_Missense_Mutation_p.D1458H|DLEC1_uc010hgv.1_Missense_Mutation_p.D1461H|DLEC1_uc003chr.1_Missense_Mutation_p.D529H|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'UTR NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1458 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) CCTGAAACTGGACCTGCATAG 0.597 4 45 --- --- --- --- PASS CCDC13 152206 broad.mit.edu 37 3 42799624 42799624 + Missense_Mutation SNP C G G rs140850059 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:42799624C>G uc003cly.3 - 2 298 c.214G>C c.(214-216)GAG>CAG p.E72Q CCDC13_uc003clz.2_Missense_Mutation_p.E72Q|CCDC13_uc011azq.1_Missense_Mutation_p.E72Q NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 72 Potential. ovary(1) 1 TACCTCTTCTCAAAGCTATTT 0.383 10 72 --- --- --- --- PASS ZNF197 10168 broad.mit.edu 37 3 44685566 44685566 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:44685566G>T uc003cnm.2 + 6 3150 c.2944G>T c.(2944-2946)GAT>TAT p.D982Y ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 982 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AATCCACACAGATGAAAAACC 0.373 12 100 --- --- --- --- PASS LIMD1 8994 broad.mit.edu 37 3 45637322 45637322 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:45637322G>T uc003coq.2 + 1 1000 c.951G>T c.(949-951)GGG>GGT p.G317G NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 317 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CAAACTCGGGGCTGGGGGGTG 0.602 44 67 --- --- --- --- PASS XCR1 2829 broad.mit.edu 37 3 46062519 46062519 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:46062519G>C uc003cpe.2 - 3 1145 c.921C>G c.(919-921)TTC>TTG p.F307L uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.F307L NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 307 Cytoplasmic (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GCAGCCGGCAGAACCAGAACT 0.627 3 22 --- --- --- --- PASS C3orf71 646450 broad.mit.edu 37 3 48955980 48955980 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:48955980C>G uc010hkk.1 - 1 839 c.603G>C c.(601-603)CAG>CAC p.Q201H ARIH2_uc003cvb.2_5'Flank|ARIH2_uc003cvc.2_5'Flank NM_001123040 NP_001116512 Q8N7S6 CC071_HUMAN hypothetical protein LOC646450 201 integral to membrane 0 CAATGGTTATCTGCTCCACTG 0.582 4 82 --- --- --- --- PASS MST1 4485 broad.mit.edu 37 3 49724666 49724666 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:49724666C>A uc003cxg.2 - 5 595 c.523G>T c.(523-525)GAT>TAT p.D175Y MST1_uc011bcs.1_Missense_Mutation_p.D175Y|MST1_uc010hkx.2_Missense_Mutation_p.D96Y|MST1_uc011bct.1_Missense_Mutation_p.D175Y|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 161 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGGTCGCCATCAGGGTTACGG 0.627 8 49 --- --- --- --- PASS DUSP7 1849 broad.mit.edu 37 3 52085122 52085122 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:52085122C>T uc003dct.2 - 3 1048 c.969G>A c.(967-969)AAG>AAA p.K323K NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 323 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CACCACACTTCTTGGAGCGGG 0.597 11 50 --- --- --- --- PASS DUSP7 1849 broad.mit.edu 37 3 52088272 52088272 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:52088272G>C uc003dct.2 - 2 715 c.636C>G c.(634-636)ATC>ATG p.I212M DUSP7_uc010hma.2_Missense_Mutation_p.I212M NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 212 Ser-rich. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGTCAGAGCTGATGCGCAGGC 0.657 27 42 --- --- --- --- PASS ITIH1 3697 broad.mit.edu 37 3 52821623 52821623 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:52821623G>C uc003dfs.2 + 16 1943 c.1919G>C c.(1918-1920)AGA>ACA p.R640T ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.R241T|ITIH1_uc010hmo.1_Missense_Mutation_p.R194T|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 640 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CTGGGACCCAGAAGGAGTAAG 0.532 14 85 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53766064 53766064 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:53766064G>C uc003dgv.3 + 18 2591 c.2428G>C c.(2428-2430)GAA>CAA p.E810Q CACNA1D_uc003dgu.3_Missense_Mutation_p.E830Q|CACNA1D_uc003dgy.3_Missense_Mutation_p.E810Q|CACNA1D_uc003dgw.3_Missense_Mutation_p.E477Q|CACNA1D_uc003dgx.1_5'UTR NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 810 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGACTATAGAGAAGAGGATGA 0.512 14 68 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58112437 58112437 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:58112437C>T uc003djj.2 + 24 4335 c.4170C>T c.(4168-4170)TTC>TTT p.F1390F FLNB_uc010hne.2_Silent_p.F1390F|FLNB_uc003djk.2_Silent_p.F1390F|FLNB_uc010hnf.2_Silent_p.F1390F|FLNB_uc003djl.2_Silent_p.F1221F|FLNB_uc003djm.2_Silent_p.F1221F NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1390 Filamin 12.|Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACATTCCTTTCGCACCGGGGG 0.488 20 91 --- --- --- --- PASS PXK 54899 broad.mit.edu 37 3 58368400 58368400 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:58368400C>G uc003djz.1 + 4 460 c.361C>G c.(361-363)CCA>GCA p.P121A PXK_uc003djx.1_Missense_Mutation_p.P121A|PXK_uc003djy.1_Missense_Mutation_p.P104A|PXK_uc003dka.1_Missense_Mutation_p.P121A|PXK_uc003dkb.1_Missense_Mutation_p.P38A|PXK_uc003dkc.1_Missense_Mutation_p.P104A|PXK_uc011bfe.1_Missense_Mutation_p.P88A|PXK_uc010hnj.1_Missense_Mutation_p.P88A|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_Translation_Start_Site NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 121 Protein kinase.|PX. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) GTTTTTAGATCCAAACAACTA 0.393 15 118 --- --- --- --- PASS FAM107A 11170 broad.mit.edu 37 3 58555429 58555429 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:58555429C>T uc003dkm.2 - 3 718 c.159G>A c.(157-159)ATG>ATA p.M53I FAM107A_uc003dko.2_Missense_Mutation_p.M84I|FAM107A_uc003dkn.2_Missense_Mutation_p.M53I|FAM107A_uc010hnm.2_Missense_Mutation_p.M81I|FAM107A_uc003dkp.1_Missense_Mutation_p.M53I NM_007177 NP_009108 O95990 F107A_HUMAN downregulated in renal cell carcinoma 53 regulation of cell growth nucleus protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) TTCTGTGGTTCATGAGCAGCT 0.617 23 112 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77542411 77542411 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:77542411C>G uc003dpy.3 + 5 1327 c.684C>G c.(682-684)CTC>CTG p.L228L ROBO2_uc003dpz.2_Silent_p.L228L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L228L NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 228 Ig-like C2-type 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCACATTTCTCAGGAGGCCAA 0.378 17 131 --- --- --- --- PASS HTR1F 3355 broad.mit.edu 37 3 88040884 88040884 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:88040884T>C uc003dqr.2 + 2 1143 c.985T>C c.(985-987)TCC>CCC p.S329P NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 329 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TGAAGAAATGTCCAATTTTTT 0.323 17 71 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806130 97806130 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:97806130C>G uc011bgs.1 + 1 114 c.114C>G c.(112-114)CTC>CTG p.L38L NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGGTCTATCTCATCACCATGG 0.448 80 408 --- --- --- --- PASS COL8A1 1295 broad.mit.edu 37 3 99514504 99514504 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:99514504G>C uc003dtg.1 + 5 2004 c.1759G>C c.(1759-1761)GAT>CAT p.D587H COL8A1_uc003dth.1_Missense_Mutation_p.D587H|COL8A1_uc003dti.1_Missense_Mutation_p.D588H NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 587 Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 GTATCTGCCAGATATGGGGCT 0.473 12 90 --- --- --- --- PASS TOMM70A 9868 broad.mit.edu 37 3 100087936 100087936 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:100087936T>C uc003dtw.2 - 10 1928 c.1496A>G c.(1495-1497)TAT>TGT p.Y499C NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 499 Cytoplasmic (Potential).|TPR 8. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 ACATTTATCATACATTTCATC 0.313 63 109 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100471741 100471741 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:100471741G>C uc003dun.2 - 33 2964 c.2879C>G c.(2878-2880)TCA>TGA p.S960* ABI3BP_uc003duj.2_Nonsense_Mutation_p.S540*|ABI3BP_uc003duk.2_Nonsense_Mutation_p.S669*|ABI3BP_uc003dul.2_Nonsense_Mutation_p.S790*|ABI3BP_uc011bhd.1_Nonsense_Mutation_p.S914*|ABI3BP_uc003dum.2_Nonsense_Mutation_p.S371* NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 960 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 CTTACACTCTGAGTAAGAGTC 0.393 25 119 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100569558 100569558 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:100569558C>G uc003dun.2 - 14 1331 c.1246G>C c.(1246-1248)GAT>CAT p.D416H ABI3BP_uc003duo.2_Missense_Mutation_p.D458H NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 416 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GGGATAGAATCCAGAATACGA 0.328 15 130 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100992587 100992587 + Splice_Site SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:100992587C>G uc003duq.1 - 7 870 c.667_splice c.e7-1 p.I223_splice IMPG2_uc011bhe.1_Splice_Site_p.I86_splice NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CATTGCTAATCTGAATTTTTA 0.264 17 79 --- --- --- --- PASS RG9MTD1 54931 broad.mit.edu 37 3 101283965 101283965 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:101283965G>A uc003duz.2 + 2 488 c.340G>A c.(340-342)GAA>AAA p.E114K NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 114 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 ACACATCACTGAAGAAGAGCT 0.368 27 142 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108572674 108572674 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:108572674C>T uc003dxi.1 + 6 655 c.511C>T c.(511-513)CCC>TCC p.P171S TRAT1_uc010hpx.1_Missense_Mutation_p.P134S NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 171 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TCATGATGATCCCATCAGACT 0.433 38 214 --- --- --- --- PASS GUCA1C 9626 broad.mit.edu 37 3 108672423 108672423 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:108672423T>C uc003dxj.2 - 1 255 c.187A>G c.(187-189)ACC>GCC p.T63A GUCA1C_uc003dxk.2_Missense_Mutation_p.T63A NM_005459 NP_005450 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 63 EF-hand 2. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 GTGTCAAAGGTATTATAAACT 0.348 42 202 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108776334 108776334 + Splice_Site SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:108776334C>T uc003dxl.2 - 13 1119 c.1032_splice c.e13-1 p.R344_splice MORC1_uc011bhn.1_Splice_Site_p.R344_splice NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTTTAATTCTCTAGAGTTACA 0.328 42 100 --- --- --- --- PASS CCDC52 152185 broad.mit.edu 37 3 113222068 113222068 + Missense_Mutation SNP C A A rs141190252 by1000genomes TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:113222068C>A uc003eag.3 - 3 397 c.106G>T c.(106-108)GTG>TTG p.V36L CCDC52_uc003eaf.3_RNA|CCDC52_uc011bie.1_Missense_Mutation_p.V48L|CCDC52_uc003eai.1_Missense_Mutation_p.V36L NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 36 cell division|mitosis centriole|spindle protein binding 0 AGATCAGTCACGGTATTCTGT 0.289 8 65 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119134125 119134125 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:119134125G>T uc003ecj.3 + 12 3881 c.3349G>T c.(3349-3351)GAC>TAC p.D1117Y NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1117 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TCCCATTGCTGACCTCTTCTG 0.517 39 173 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121416258 121416258 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:121416258C>G uc003eei.3 - 13 3223 c.3097G>C c.(3097-3099)GAG>CAG p.E1033Q GOLGB1_uc010hrc.2_Missense_Mutation_p.E1038Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E999Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E919Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E997Q NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1033 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCTCCCCTCTCAGTCTCACTG 0.343 11 263 --- --- --- --- PASS TPRA1 131601 broad.mit.edu 37 3 127294892 127294892 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:127294892C>A uc003ejl.2 - 6 791 c.500G>T c.(499-501)GGG>GTG p.G167V TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.G167V|TPRA1_uc010hsk.2_Missense_Mutation_p.G167V|TPRA1_uc003ejn.2_Missense_Mutation_p.G167V NM_016372 NP_057456 Q86W33 TPRA1_HUMAN G protein-coupled receptor 175 isoform 1 167 Helical; Name=4; (Potential). aging|lipid metabolic process integral to membrane G-protein coupled receptor activity 0 CTCCAGGGTCCCCTGCAGGGG 0.587 5 42 --- --- --- --- PASS ASTE1 28990 broad.mit.edu 37 3 130735088 130735088 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:130735088C>T uc003env.1 - 5 2051 c.1609G>A c.(1609-1611)GAC>AAC p.D537N ATP2C1_uc011blh.1_Silent_p.V944V|ATP2C1_uc011bli.1_Silent_p.V973V|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_Silent_p.V923V|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_Silent_p.V949V|ATP2C1_uc003ent.2_Silent_p.V939V|ASTE1_uc010htm.1_Missense_Mutation_p.D537N|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 537 DNA repair nuclease activity 0 TGAGCTGTGTCTAAGTCCAGT 0.522 24 174 --- --- --- --- PASS RAB6B 51560 broad.mit.edu 37 3 133547652 133547652 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:133547652C>G uc003epy.2 - 8 988 c.607G>C c.(607-609)GAG>CAG p.E203Q RAB6B_uc011blu.1_Missense_Mutation_p.E190Q NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 203 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 CAGCCGCCCTCGCTGGCCGGG 0.597 47 296 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134960004 134960004 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:134960004T>C uc003eqt.2 + 13 2581 c.2361T>C c.(2359-2361)CCT>CCC p.P787P EPHB1_uc003equ.2_Silent_p.P348P NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 787 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GGAAGATCCCTGTGAGATGGA 0.502 26 173 --- --- --- --- PASS PPP2R3A 5523 broad.mit.edu 37 3 135721224 135721224 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:135721224A>T uc003eqv.1 + 2 1449 c.884A>T c.(883-885)GAA>GTA p.E295V PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 295 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 TTACCATTTGAATTCATGCAG 0.388 38 143 --- --- --- --- PASS ESYT3 83850 broad.mit.edu 37 3 138189849 138189849 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:138189849C>T uc003esk.2 + 17 1947 c.1721C>T c.(1720-1722)TCC>TTC p.S574F ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 574 integral to membrane|plasma membrane 0 AGCCTCATCTCCATGAGGCTG 0.597 35 178 --- --- --- --- PASS PIK3CB 5291 broad.mit.edu 37 3 138407817 138407817 + Splice_Site SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:138407817C>A uc011bmq.1 - 14 2037 c.2037_splice c.e14-1 p.R679_splice PIK3CB_uc011bmn.1_Splice_Site_p.R191_splice|PIK3CB_uc011bmo.1_Splice_Site_p.R125_splice|PIK3CB_uc011bmp.1_Splice_Site_p.R266_splice NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CACTTCTGACCTGCAGAAAGT 0.388 14 53 --- --- --- --- PASS XRN1 54464 broad.mit.edu 37 3 142166720 142166720 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:142166720C>G uc003eus.2 - 1 134 c.67G>C c.(67-69)GAG>CAG p.E23Q XRN1_uc003eut.2_Missense_Mutation_p.E23Q|XRN1_uc003euu.2_Missense_Mutation_p.E23Q|XRN1_uc003euw.2_Missense_Mutation_p.E23Q|XRN1_uc011bnh.1_5'UTR NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 23 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ACCTGATGCTCTTTCACCACT 0.587 25 238 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142215323 142215323 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:142215323C>G uc003eux.3 - 34 5900 c.5778G>C c.(5776-5778)CAG>CAC p.Q1926H NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1926 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CCCTGGCACTCTGCAGCCAGC 0.473 Other_conserved_DNA_damage_response_genes 27 124 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142224118 142224118 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:142224118C>G uc003eux.3 - 29 5181 c.5059G>C c.(5059-5061)GAT>CAT p.D1687H NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1687 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GCCACTCCATCAGGTTCATGC 0.388 Other_conserved_DNA_damage_response_genes 145 376 --- --- --- --- PASS SCHIP1 29970 broad.mit.edu 37 3 158980417 158980417 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:158980417C>G uc003fcq.1 + 4 341 c.236C>G c.(235-237)TCA>TGA p.S79* SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Nonsense_Mutation_p.S79*|IQCJ_uc010hvy.1_Nonsense_Mutation_p.S52*|IQCJ_uc003fcp.1_Nonsense_Mutation_p.S79* NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 Error:Variant_position_missing_in_Q9P0W5_after_alignment cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TCTGTCTCCTCAGAGAAGCTG 0.532 10 199 --- --- --- --- PASS SMC4 10051 broad.mit.edu 37 3 160132222 160132222 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:160132222G>C uc003fdh.2 + 9 1302 c.1189G>C c.(1189-1191)GAT>CAT p.D397H IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.D397H|SMC4_uc010hwc.1_Missense_Mutation_p.D161H|SMC4_uc003fdi.2_Missense_Mutation_p.D372H|SMC4_uc003fdj.2_Missense_Mutation_p.D397H|SMC4_uc010hwd.2_Missense_Mutation_p.D397H|SMC4_uc003fdl.2_Missense_Mutation_p.D100H NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 397 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AGATTTGGAAGATGTTCAAGT 0.284 14 115 --- --- --- --- PASS PDCD10 11235 broad.mit.edu 37 3 167413428 167413428 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:167413428G>A uc003fex.2 - 6 749 c.351C>T c.(349-351)ATC>ATT p.I117I PDCD10_uc003fez.2_Silent_p.I117I|PDCD10_uc003fey.2_Silent_p.I117I NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 117 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 TCTCATCTGGGATCTTACTGA 0.358 Familial_Cerebral_Cavernous_Angioma 77 266 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170219054 170219054 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:170219054C>A uc003fgz.2 - 3 701 c.385G>T c.(385-387)GAA>TAA p.E129* CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 129 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCCACAAATTCCCCAACAGTG 0.527 5 49 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170219055 170219055 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:170219055C>A uc003fgz.2 - 3 700 c.384G>T c.(382-384)GGG>GGT p.G128G CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 128 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCACAAATTCCCCAACAGTGA 0.527 5 50 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 175520973 175520973 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:175520973C>G uc003fit.2 + 14 2457 c.2370C>G c.(2368-2370)GTC>GTG p.V790V NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 790 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TCAAGAGTGTCTTGGATGGGA 0.378 12 63 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 11 100 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179537695 179537695 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:179537695C>G uc003fki.1 - 9 1022 c.892G>C c.(892-894)GAG>CAG p.E298Q PEX5L_uc011bqd.1_Missense_Mutation_p.E255Q|PEX5L_uc011bqe.1_Missense_Mutation_p.E106Q|PEX5L_uc011bqf.1_Missense_Mutation_p.E190Q|PEX5L_uc003fkj.1_Missense_Mutation_p.E263Q|PEX5L_uc010hxd.1_Missense_Mutation_p.E296Q|PEX5L_uc011bqg.1_Missense_Mutation_p.E274Q|PEX5L_uc011bqh.1_Missense_Mutation_p.E239Q NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 298 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCTTGGTTCTCAGATATCCAG 0.438 6 188 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182925608 182925608 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:182925608C>A uc003fli.1 - 23 2590 c.2500G>T c.(2500-2502)GAT>TAT p.D834Y NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 834 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTTCCAATATCGTCCTTTTGG 0.388 10 71 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 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) TTGCAGGCCTGATAGGCCTGC 0.557 7 85 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196386967 196386967 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:196386967C>T uc003fwv.2 + 3 557 c.453C>T c.(451-453)CTC>CTT p.L151L NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 151 Extracellular (Potential).|LRR 4. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TGGCAGCCCTCATGCTCCAGA 0.672 7 37 --- --- --- --- PASS KIAA1530 57654 broad.mit.edu 37 4 1341946 1341946 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:1341946G>C uc003gde.3 + 2 514 c.67G>C c.(67-69)GAG>CAG p.E23Q NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 23 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) ACTAAATCCTGAGAAAATGAA 0.443 37 194 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39904022 39904022 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:39904022C>T uc003guv.3 - 13 1984 c.1444G>A c.(1444-1446)GAG>AAG p.E482K PDS5A_uc010ifo.2_Missense_Mutation_p.E442K|PDS5A_uc003guw.3_Missense_Mutation_p.E482K NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 482 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TTCATTCTCTCTTCTGTTTCC 0.333 8 56 --- --- --- --- PASS RBM47 54502 broad.mit.edu 37 4 40438646 40438646 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:40438646C>G uc003gvc.2 - 5 1852 c.1142G>C c.(1141-1143)CGA>CCA p.R381P RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R343P NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 381 nucleus nucleotide binding|RNA binding breast(3) 3 ACCTCGCCCTCGGCCTCTTAT 0.552 45 202 --- --- --- --- PASS LIMCH1 22998 broad.mit.edu 37 4 41648662 41648662 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:41648662G>C uc003gvu.3 + 12 1471 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q LIMCH1_uc003gvv.3_Missense_Mutation_p.E473Q|LIMCH1_uc003gvw.3_Missense_Mutation_p.E473Q|LIMCH1_uc003gvx.3_Missense_Mutation_p.E461Q|LIMCH1_uc003gwe.3_Missense_Mutation_p.E473Q|LIMCH1_uc003gvy.3_Missense_Mutation_p.E302Q|LIMCH1_uc003gwa.3_Missense_Mutation_p.E314Q|LIMCH1_uc003gvz.3_Missense_Mutation_p.E858Q|LIMCH1_uc011byu.1_Missense_Mutation_p.E307Q|LIMCH1_uc003gwc.3_Missense_Mutation_p.E319Q|LIMCH1_uc003gwd.3_Missense_Mutation_p.E307Q|LIMCH1_uc011byv.1_Missense_Mutation_p.E224Q NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 473 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CCATTCAACAGAGCCAAATTT 0.478 88 324 --- --- --- --- PASS TMEM33 55161 broad.mit.edu 37 4 41956198 41956198 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:41956198G>A uc003gwi.2 + 7 1091 c.726G>A c.(724-726)TTG>TTA p.L242L TMEM33_uc010ifw.2_RNA NM_018126 NP_060596 P57088 TMM33_HUMAN transmembrane protein 33 242 integral to membrane|melanosome protein binding ovary(1) 1 TAAGCAGATTGGCACCAACAG 0.388 47 159 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44450335 44450335 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:44450335G>T uc003gwu.2 - 1 490 c.206C>A c.(205-207)ACT>AAT p.T69N NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 69 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 GCTGGCCAAAGTACTGTCCGG 0.552 HNSCC(17;0.042) 5 10 --- --- --- --- PASS CNGA1 1259 broad.mit.edu 37 4 47938785 47938785 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:47938785G>A uc003gxt.3 - 11 1992 c.1726C>T c.(1726-1728)CTC>TTC p.L576F uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.L645F NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 576 cGMP (Potential).|Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TCTTTTGAGAGACAGAACAGG 0.418 95 142 --- --- --- --- PASS CNGA1 1259 broad.mit.edu 37 4 47939043 47939043 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:47939043C>G uc003gxt.3 - 11 1734 c.1468G>C c.(1468-1470)GAG>CAG p.E490Q uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.E559Q NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 490 cGMP (Potential).|Helical; Name=H6; (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 AAGACCAACTCCACCAACAGA 0.408 47 266 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56744117 56744117 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:56744117C>G uc003hbe.1 + 9 1267 c.1109C>G c.(1108-1110)TCT>TGT p.S370C EXOC1_uc003hbf.1_Missense_Mutation_p.S370C|EXOC1_uc003hbg.1_Missense_Mutation_p.S370C NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 370 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) GCCCAACACTCTGTTGAACTG 0.358 3 130 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57181915 57181915 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:57181915C>A uc003hbk.2 + 8 2638 c.2247C>A c.(2245-2247)CCC>CCA p.P749P KIAA1211_uc010iha.2_Silent_p.P742P|KIAA1211_uc011bzz.1_Silent_p.P659P|KIAA1211_uc003hbm.1_Silent_p.P635P NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 749 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GAAAAAGACCCATGCTGGGAC 0.582 28 43 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57797315 57797315 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:57797315A>T uc003hch.2 + 4 2638 c.2291A>T c.(2290-2292)GAG>GTG p.E764V REST_uc003hci.2_Missense_Mutation_p.E764V|REST_uc010ihf.2_Missense_Mutation_p.E438V NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 764 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding p.M753_P768delMEVVQKEPVKIELSPP(1) skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) GTTAAGATAGAGCTGTCTCCT 0.562 226 368 --- --- --- --- PASS TMPRSS11B 132724 broad.mit.edu 37 4 69100194 69100194 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:69100194G>A uc003hdw.3 - 5 592 c.456C>T c.(454-456)TCC>TCT p.S152S NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 152 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TGAGTTTAATGGAAGCAGGAA 0.328 50 97 --- --- --- --- PASS TMPRSS11B 132724 broad.mit.edu 37 4 69100195 69100195 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:69100195G>T uc003hdw.3 - 5 591 c.455C>A c.(454-456)TCC>TAC p.S152Y NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 152 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GAGTTTAATGGAAGCAGGAAC 0.328 50 96 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73178020 73178020 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:73178020C>T uc003hgk.1 - 13 1946 c.1909G>A c.(1909-1911)GAA>AAA p.E637K ADAMTS3_uc003hgl.2_5'Flank NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 637 Cys-rich. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCAGGATGTTCATATGGCAAC 0.488 31 138 --- --- --- --- PASS AFP 174 broad.mit.edu 37 4 74318154 74318154 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:74318154G>A uc003hgz.1 + 12 1512 c.1465G>A c.(1465-1467)GAA>AAA p.E489K AFP_uc003hha.1_Missense_Mutation_p.E489K|AFP_uc011cbg.1_Missense_Mutation_p.E263K NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 489 Albumin 3. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TATCAGACATGAAATGACTCC 0.433 Alpha-Fetoprotein_Hereditary_Persistence_of 23 92 --- --- --- --- PASS MRPL1 65008 broad.mit.edu 37 4 78871002 78871002 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:78871002G>C uc003hku.2 + 8 1027 c.829G>C c.(829-831)GAA>CAA p.E277Q MRPL1_uc010iji.1_Intron NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 277 RNA binding 0 AGTTATTAATGAAGTTTGTAG 0.358 4 128 --- --- --- --- PASS COPS4 51138 broad.mit.edu 37 4 83978197 83978197 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:83978197G>A uc003hoa.2 + 5 668 c.529G>A c.(529-531)GAA>AAA p.E177K COPS4_uc003hob.2_Missense_Mutation_p.E177K|COPS4_uc010ijw.2_Missense_Mutation_p.E177K|COPS4_uc010ijx.2_Missense_Mutation_p.E177K NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 177 cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) GCTTCAGAATGAATCAACCAA 0.363 69 92 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85611771 85611771 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:85611771C>A uc003hpd.2 - 61 9659 c.9251G>T c.(9250-9252)TGT>TTT p.C3084F NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3084 WD 1. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCAGATTGCACAGAGAATCTG 0.493 25 59 --- --- --- --- PASS HERC6 55008 broad.mit.edu 37 4 89352393 89352393 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:89352393C>G uc011cdi.1 + 17 2369 c.2186C>G c.(2185-2187)ACC>AGC p.T729S HERC6_uc011cdj.1_Missense_Mutation_p.T693S|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 729 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GAAGAGATGACCAAGCCAGAA 0.393 46 233 --- --- --- --- PASS FAM13A 10144 broad.mit.edu 37 4 89668850 89668850 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:89668850T>C uc003hse.1 - 18 2522 c.2314A>G c.(2314-2316)ACA>GCA p.T772A FAM13A_uc003hsa.1_Missense_Mutation_p.T243A|FAM13A_uc003hsb.1_Missense_Mutation_p.T446A|FAM13A_uc003hsd.1_Missense_Mutation_p.T446A|FAM13A_uc003hsc.1_Missense_Mutation_p.T432A|FAM13A_uc011cdq.1_Missense_Mutation_p.T418A|FAM13A_uc003hsf.1_Missense_Mutation_p.T358A|FAM13A_uc003hsg.1_Missense_Mutation_p.T243A NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 772 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GATTCCAATGTGGCTTCAACA 0.478 50 223 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96762179 96762179 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:96762179G>C uc003htr.3 + 1 941 c.878G>C c.(877-879)AGT>ACT p.S293T NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 293 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CACAGTATGAGTGATCCTGGA 0.423 28 60 --- --- --- --- PASS TACR3 6870 broad.mit.edu 37 4 104512829 104512829 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:104512829C>G uc003hxe.1 - 4 1043 c.900G>C c.(898-900)ATG>ATC p.M300I NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 300 Helical; Name=6; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CAATAATCATCATTTTGACAA 0.308 12 45 --- --- --- --- PASS UGT8 7368 broad.mit.edu 37 4 115597237 115597237 + Missense_Mutation SNP T G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:115597237T>G uc003ibs.2 + 6 1941 c.1419T>G c.(1417-1419)TTT>TTG p.F473L UGT8_uc003ibt.2_Missense_Mutation_p.F473L|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 473 Helical; (Potential). central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) GTCAGTATTTTTTACTGGATA 0.383 42 160 --- --- --- --- PASS TNIP3 79931 broad.mit.edu 37 4 122082298 122082298 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:122082298C>T uc010ing.2 - 2 336 c.140G>A c.(139-141)AGA>AAA p.R47K TNIP3_uc010inh.2_Missense_Mutation_p.R47K|TNIP3_uc011cgj.1_Missense_Mutation_p.R105K|TNIP3_uc010ini.2_Missense_Mutation_p.R47K NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 47 Potential. ovary(1) 1 TACCTCTTTTCTTTGTTTTTC 0.313 4 23 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123179939 123179939 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:123179939G>C uc003ieh.2 + 40 6748 c.6703G>C c.(6703-6705)GAG>CAG p.E2235Q KIAA1109_uc003iel.1_Missense_Mutation_p.E170Q|KIAA1109_uc003iek.2_Missense_Mutation_p.E854Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2235 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AACTGGAGCTGAGATAATGAG 0.403 29 107 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123270402 123270402 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:123270402G>A uc003ieh.2 + 76 13415 c.13370G>A c.(13369-13371)AGA>AAA p.R4457K KIAA1109_uc003iem.2_Missense_Mutation_p.R813K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4457 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GGTCTGGGAAGATCACAATTA 0.413 5 107 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126241507 126241507 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:126241507C>G uc003ifj.3 + 1 3941 c.3941C>G c.(3940-3942)TCT>TGT p.S1314C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1314 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AATACCCCTTCTTTCCCTAAA 0.373 41 177 --- --- --- --- PASS SCLT1 132320 broad.mit.edu 37 4 129891542 129891542 + Missense_Mutation SNP C T T rs141863899 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:129891542C>T uc003igp.2 - 10 1274 c.768G>A c.(766-768)ATG>ATA p.M256I SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 256 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 CCTTCTTTTTCATCTGTCCCT 0.328 17 72 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073056 134073056 + Silent SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:134073056T>A uc003iha.2 + 1 2587 c.1761T>A c.(1759-1761)CGT>CGA p.R587R uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R587R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 587 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTCCAGCGCGTGAGGTGCTGC 0.662 8 53 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073059 134073059 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:134073059G>T uc003iha.2 + 1 2590 c.1764G>T c.(1762-1764)GAG>GAT p.E588D uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E588D NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 588 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CAGCGCGTGAGGTGCTGCCCC 0.662 8 53 --- --- --- --- PASS OTUD4 54726 broad.mit.edu 37 4 146080657 146080657 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:146080657G>C uc003ika.3 - 7 570 c.432C>G c.(430-432)TGC>TGG p.C144W OTUD4_uc003ijz.3_Missense_Mutation_p.C144W|OTUD4_uc003ikb.3_Missense_Mutation_p.C144W NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 209 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) ATTCTTACTTGCAACTGTCAT 0.303 80 177 --- --- --- --- PASS EDNRA 1909 broad.mit.edu 37 4 148453689 148453689 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:148453689C>T uc003iky.2 + 4 1272 c.580C>T c.(580-582)CAG>TAG p.Q194* EDNRA_uc011cid.1_5'UTR|EDNRA_uc010ipe.1_Missense_Mutation_p.S151L|EDNRA_uc010ipf.1_Intron|EDNRA_uc010ipg.1_Intron NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 194 Cytoplasmic (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GAGTCGTGTTCAGGGAATTGG 0.408 65 234 --- --- --- --- PASS SH3D19 152503 broad.mit.edu 37 4 152054354 152054354 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:152054354C>A uc010ipl.1 - 17 2840 c.1750G>T c.(1750-1752)GGA>TGA p.G584* SH3D19_uc003imb.2_Nonsense_Mutation_p.G339*|SH3D19_uc003imc.2_Nonsense_Mutation_p.G525*|SH3D19_uc003ime.2_Nonsense_Mutation_p.G561*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.G561* NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 584 SH3 3. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TTCTGCTCTCCAATATATTCA 0.388 4 133 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155249247 155249247 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:155249247G>A uc003inw.2 - 12 2651 c.2651C>T c.(2650-2652)TCA>TTA p.S884L DCHS2_uc003inx.2_Missense_Mutation_p.S1339L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 884 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGTTTTACCTGAAGATACTGA 0.358 24 121 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155249256 155249256 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:155249256G>C uc003inw.2 - 12 2642 c.2642C>G c.(2641-2643)TCA>TGA p.S881* DCHS2_uc003inx.2_Nonsense_Mutation_p.S1336* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 881 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGAAGATACTGAGTATGTAAC 0.358 24 141 --- --- --- --- PASS FGB 2244 broad.mit.edu 37 4 155490729 155490729 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:155490729T>C uc003ioa.3 + 7 1061 c.1022T>C c.(1021-1023)TTG>TCG p.L341S FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.L279S|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.L122S NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 341 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) ACAGAACTTTTGATAGAAATG 0.368 49 71 --- --- --- --- PASS C4orf45 152940 broad.mit.edu 37 4 159956200 159956200 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:159956200G>C uc003iqf.1 - 1 134 c.49C>G c.(49-51)CAA>GAA p.Q17E C4orf45_uc010iqt.1_Intron NM_152543 NP_689756 Q96LM5 CD045_HUMAN hypothetical protein LOC152940 17 0 AAAATCATTTGTTTTCCCACA 0.328 20 24 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176622910 176622910 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:176622910C>G uc003iuf.2 - 2 850 c.46G>C c.(46-48)GAA>CAA p.E16Q GPM6A_uc011ckj.1_Missense_Mutation_p.E9Q|GPM6A_uc003iug.2_Missense_Mutation_p.E16Q|GPM6A_uc003iuh.2_Missense_Mutation_p.E5Q NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 16 Cytoplasmic (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATACAGCATTCAAAACACCCT 0.418 24 123 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177070988 177070988 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:177070988C>G uc003iuj.2 + 15 2156 c.2000C>G c.(1999-2001)ACT>AGT p.T667S WDR17_uc003iuk.2_Missense_Mutation_p.T643S|WDR17_uc003ium.3_Missense_Mutation_p.T643S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 667 WD 12. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CGCCCCTTCACTATGGCCTCT 0.383 11 291 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177070997 177070997 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:177070997C>G uc003iuj.2 + 15 2165 c.2009C>G c.(2008-2010)TCT>TGT p.S670C WDR17_uc003iuk.2_Missense_Mutation_p.S646C|WDR17_uc003ium.3_Missense_Mutation_p.S646C|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 670 WD 12. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ACTATGGCCTCTTGCTCCCGT 0.368 9 294 --- --- --- --- PASS STOX2 56977 broad.mit.edu 37 4 184932482 184932482 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:184932482G>C uc003ivz.1 + 3 3926 c.2491G>C c.(2491-2493)GAC>CAC p.D831H STOX2_uc003iwa.1_Missense_Mutation_p.D520H NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 831 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) AAAAGAAACCGACAGCAGCAG 0.557 9 36 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187173216 187173216 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:187173216C>G uc003iyy.2 + 11 1261 c.1190C>G c.(1189-1191)TCT>TGT p.S397C KLKB1_uc011clc.1_Missense_Mutation_p.S195C|KLKB1_uc011cld.1_Missense_Mutation_p.S359C NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 397 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGAACAAACTCTTCTTGGGGA 0.517 19 117 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189020233 189020233 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr4:189020233C>A uc003izl.2 - 4 463 c.427G>T c.(427-429)GAG>TAG p.E143* TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Nonsense_Mutation_p.E193*|TRIML2_uc011clf.1_Nonsense_Mutation_p.E193* NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 143 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTCTCAAGCTCCACGATGAGC 0.483 19 134 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5200278 5200278 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:5200278G>T uc003jdl.2 + 9 1485 c.1347G>T c.(1345-1347)ATG>ATT p.M449I ADAMTS16_uc003jdk.1_Missense_Mutation_p.M449I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.M449I NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 449 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 AAGGGAACATGTGCAAAAAGT 0.403 8 62 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7727363 7727363 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:7727363C>A uc003jdz.1 + 14 1927 c.1860C>A c.(1858-1860)CTC>CTA p.L620L ADCY2_uc011cmo.1_Silent_p.L440L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 620 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGCAGATTCTCGTGCTGCCAA 0.483 31 140 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7727364 7727364 + Missense_Mutation SNP G A A rs149172094 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:7727364G>A uc003jdz.1 + 14 1928 c.1861G>A c.(1861-1863)GTG>ATG p.V621M ADCY2_uc011cmo.1_Missense_Mutation_p.V441M NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 621 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GCAGATTCTCGTGCTGCCAAA 0.483 31 140 --- --- --- --- PASS C5orf49 134121 broad.mit.edu 37 5 7835508 7835508 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:7835508T>C uc003jea.3 - 2 381 c.251A>G c.(250-252)CAT>CGT p.H84R NM_001089584 NP_001083053 A4QMS7 CE049_HUMAN hypothetical protein LOC134121 84 0 TTCGTTAACATGAAGTCCCAG 0.294 56 241 --- --- --- --- PASS MTRR 4552 broad.mit.edu 37 5 7900156 7900156 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:7900156G>C uc003jed.2 + 15 2193 c.2163G>C c.(2161-2163)CAG>CAC p.Q721H MTRR_uc003jee.3_Missense_Mutation_p.Q694H|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 721 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GCTACCTTCAGGATATTTGGT 0.338 42 117 --- --- --- --- PASS FAM173B 134145 broad.mit.edu 37 5 10236624 10236624 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:10236624C>A uc003jeo.2 - 3 439 c.410G>T c.(409-411)GGA>GTA p.G137V FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.G137V NM_199133 NP_954584 Q6P4H8 F173B_HUMAN hypothetical protein LOC134145 137 integral to membrane kidney(1)|central_nervous_system(1) 2 TTTGGCAGATCCATGCACACC 0.408 16 157 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11117664 11117664 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:11117664G>A uc003jfa.1 - 13 2320 c.2175C>T c.(2173-2175)GCC>GCT p.A725A CTNND2_uc010itt.2_Silent_p.A634A|CTNND2_uc011cmy.1_Silent_p.A388A|CTNND2_uc011cmz.1_Silent_p.A292A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A292A NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 725 A -> P (in Ref. 1; AAC63103). multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CCTCCTCTCCGGCCGAACTAA 0.527 35 107 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21765088 21765088 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:21765088T>A uc010iuc.2 - 9 1972 c.1514A>T c.(1513-1515)CAG>CTG p.Q505L CDH12_uc011cno.1_Missense_Mutation_p.Q465L|CDH12_uc003jgk.2_Missense_Mutation_p.Q505L|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 505 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ATAAGATACCTGTCCTGGCTT 0.338 HNSCC(59;0.17) 79 238 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 22078562 22078562 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:22078562A>G uc010iuc.2 - 2 682 c.224T>C c.(223-225)GTG>GCG p.V75A CDH12_uc011cno.1_Missense_Mutation_p.V75A|CDH12_uc003jgk.2_Missense_Mutation_p.V75A NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 75 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TACCTTTCCCACATACTGAGG 0.443 HNSCC(59;0.17) 42 114 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 22078567 22078567 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:22078567C>A uc010iuc.2 - 2 677 c.219G>T c.(217-219)CAG>CAT p.Q73H CDH12_uc011cno.1_Missense_Mutation_p.Q73H|CDH12_uc003jgk.2_Missense_Mutation_p.Q73H NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 73 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TTCCCACATACTGAGGCTCGG 0.448 HNSCC(59;0.17) 47 122 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31468104 31468104 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:31468104G>A uc003jhg.2 - 17 2667 c.2308C>T c.(2308-2310)CCG>TCG p.P770S RNASEN_uc003jhh.2_Missense_Mutation_p.P733S|RNASEN_uc003jhi.2_Missense_Mutation_p.P733S NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 770 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 ACGATAATCGGAAAAGTAATC 0.428 10 35 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33684141 33684141 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:33684141C>G uc003jia.1 - 4 817 c.654G>C c.(652-654)CAG>CAC p.Q218H ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q218H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 218 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCTCTTGCTTCTGGGAGATGT 0.458 HNSCC(64;0.19) 5 70 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36037942 36037942 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:36037942C>A uc003jjz.1 - 6 1345 c.1252G>T c.(1252-1254)GAG>TAG p.E418* UGT3A2_uc011cos.1_Nonsense_Mutation_p.E384*|UGT3A2_uc011cot.1_Nonsense_Mutation_p.E116* NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 418 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCAATGTCTCTGCCTTGAGC 0.443 47 358 --- --- --- --- PASS SKP2 6502 broad.mit.edu 37 5 36168476 36168476 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:36168476G>T uc003jkc.1 + 5 780 c.598G>T c.(598-600)GGC>TGC p.G200C SKP2_uc011cou.1_Intron|SKP2_uc003jkd.2_Missense_Mutation_p.G200C NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 200 LRR 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACCCTCCACGGCATACTGTC 0.507 141 333 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 37048604 37048604 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:37048604G>T uc003jkl.3 + 39 7089 c.6590G>T c.(6589-6591)GGA>GTA p.G2197V NIPBL_uc003jkk.3_Missense_Mutation_p.G2197V|NIPBL_uc003jkn.2_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2197 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCTCCCATAGGATTTGCCTTT 0.244 38 141 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37183312 37183312 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:37183312G>C uc011cpa.1 - 26 5202 c.4971C>G c.(4969-4971)ATC>ATG p.I1657M C5orf42_uc011coy.1_Missense_Mutation_p.I158M|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.I732M|C5orf42_uc011cpb.1_Missense_Mutation_p.I538M NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1657 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AAAAAGGTTTGATCCCTTGAT 0.308 12 89 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37183337 37183337 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:37183337G>A uc011cpa.1 - 26 5177 c.4946C>T c.(4945-4947)TCA>TTA p.S1649L C5orf42_uc011coy.1_Missense_Mutation_p.S150L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S724L|C5orf42_uc011cpb.1_Missense_Mutation_p.S530L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1649 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CAGTACTGATGATGAAAGTTT 0.333 13 104 --- --- --- --- PASS GDNF 2668 broad.mit.edu 37 5 37816081 37816081 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:37816081G>C uc011cpi.1 - 3 508 c.308C>G c.(307-309)TCC>TGC p.S103C GDNF_uc011cpc.1_Missense_Mutation_p.S25C|GDNF_uc011cpd.1_Missense_Mutation_p.S51C|GDNF_uc011cpe.1_Missense_Mutation_p.S77C|GDNF_uc011cpf.1_Missense_Mutation_p.S77C|GDNF_uc011cpg.1_Missense_Mutation_p.S120C|GDNF_uc011cph.1_Missense_Mutation_p.S94C NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 103 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) TTTTCCTCTGGAATTCTCTGG 0.493 29 167 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38921868 38921868 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:38921868C>T uc003jln.1 + 12 2104 c.1737C>T c.(1735-1737)CCC>CCT p.P579P OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 579 Fibronectin type-III 3.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) ATGTAGGTCCCAATACCACAA 0.453 57 98 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41051135 41051135 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:41051135C>T uc003jmj.3 - 13 1778 c.1288G>A c.(1288-1290)GAA>AAA p.E430K HEATR7B2_uc003jmi.3_5'UTR NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 430 HEAT 5. binding ovary(6)|central_nervous_system(2) 8 AGGCTTGTTTCTCGGACAGAT 0.408 6 57 --- --- --- --- PASS PAIP1 10605 broad.mit.edu 37 5 43547890 43547890 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:43547890C>T uc003job.2 - 3 808 c.561G>A c.(559-561)CTG>CTA p.L187L PAIP1_uc003joa.2_Silent_p.L108L|PAIP1_uc010ivp.2_Silent_p.L108L|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Silent_p.L75L NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 187 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) CACAACCATTCAGGGTCTCTG 0.388 63 158 --- --- --- --- PASS MRPS30 10884 broad.mit.edu 37 5 44809298 44809298 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:44809298G>A uc003joh.2 + 1 272 c.234G>A c.(232-234)GAG>GAA p.E78E MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 78 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CGGTAGACGAGAAGCTGCGAA 0.597 4 21 --- --- --- --- PASS MRPS30 10884 broad.mit.edu 37 5 44813255 44813255 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:44813255C>T uc003joh.2 + 4 939 c.901C>T c.(901-903)CTG>TTG p.L301L NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 301 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CCAGTTTCATCTGTTACCTGA 0.383 20 172 --- --- --- --- PASS ACTBL2 345651 broad.mit.edu 37 5 56778368 56778368 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:56778368C>G uc003jrm.2 - 1 269 c.167G>C c.(166-168)GGA>GCA p.G56A NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 56 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) AGCCTCATCTCCCACGTAGCA 0.582 5 26 --- --- --- --- PASS PIK3R1 5295 broad.mit.edu 37 5 67592064 67592064 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:67592064G>C uc003jva.2 + 15 2440 c.1880G>C c.(1879-1881)GGA>GCA p.G627A PIK3R1_uc003jvb.2_Missense_Mutation_p.G627A|PIK3R1_uc003jvc.2_Missense_Mutation_p.G327A|PIK3R1_uc003jvd.2_Missense_Mutation_p.G357A|PIK3R1_uc003jve.2_Missense_Mutation_p.G306A NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 627 SH2 2. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TGGAATGTTGGAAGCAGCAAC 0.473 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 20 94 --- --- --- --- PASS FAM169A 26049 broad.mit.edu 37 5 74134873 74134873 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:74134873C>A uc003kdm.2 - 4 278 c.235G>T c.(235-237)GTG>TTG p.V79L FAM169A_uc010izm.2_Missense_Mutation_p.V79L|FAM169A_uc003kdl.2_5'UTR NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 79 0 TAAAGTGCCACAGCTAAAATA 0.333 52 181 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80408537 80408537 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:80408537A>G uc003kha.1 + 14 1947 c.1947A>G c.(1945-1947)GAA>GAG p.E649E RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 649 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCCTCTTGGAACGACTGACAG 0.488 70 251 --- --- --- --- PASS XRCC4 7518 broad.mit.edu 37 5 82554407 82554407 + Silent SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:82554407A>T uc003kib.2 + 7 932 c.804A>T c.(802-804)CCA>CCT p.P268P XRCC4_uc003kia.1_Silent_p.P268P|XRCC4_uc003kid.2_Silent_p.P268P|XRCC4_uc003kic.2_Silent_p.P268P|XRCC4_uc003kie.2_Silent_p.P268P|XRCC4_uc003kif.1_Silent_p.P268P|XRCC4_uc003kig.2_RNA NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 268 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) ATATTGCACCAAGTAGAAAAA 0.363 NHEJ 27 117 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82833254 82833254 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:82833254G>C uc003kii.3 + 8 4788 c.4432G>C c.(4432-4434)GAA>CAA p.E1478Q VCAN_uc003kij.3_Missense_Mutation_p.E491Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E142Q NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1478 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGAGTCTCTTGAAGTTACATG 0.423 27 75 --- --- --- --- PASS POU5F2 134187 broad.mit.edu 37 5 93076968 93076968 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:93076968G>A uc003kkl.1 - 1 342 c.302C>T c.(301-303)CCG>CTG p.P101L FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 101 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GTAGGGCCCCGGGAGGGCGCC 0.637 12 43 --- --- --- --- PASS ARSK 153642 broad.mit.edu 37 5 94903634 94903634 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:94903634G>C uc003kld.2 + 3 455 c.297G>C c.(295-297)TGG>TGC p.W99C ARSK_uc010jbg.2_5'UTR|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 99 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) CAGAATCTTGGAATAATTTTA 0.363 18 73 --- --- --- --- PASS ELL2 22936 broad.mit.edu 37 5 95224604 95224604 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:95224604C>T uc003klr.3 - 12 2244 c.1894G>A c.(1894-1896)GAC>AAC p.D632N NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 632 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGCTGTTGGTCAAATTCACCT 0.363 12 101 --- --- --- --- PASS ELL2 22936 broad.mit.edu 37 5 95224673 95224673 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:95224673C>A uc003klr.3 - 12 2175 c.1825G>T c.(1825-1827)GAA>TAA p.E609* NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 609 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TATTTTTCTTCATGGTAATTG 0.348 11 49 --- --- --- --- PASS CHD1 1105 broad.mit.edu 37 5 98262090 98262090 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:98262090T>C uc003knf.2 - 1 149 c.1A>G c.(1-3)ATG>GTG p.M1V NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1 Ser-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TGTCCATTCATTGTAAATTAT 0.279 18 51 --- --- --- --- PASS MCC 4163 broad.mit.edu 37 5 112487112 112487112 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:112487112G>T uc003kqj.3 - 2 595 c.65C>A c.(64-66)TCA>TAA p.S22* MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Nonsense_Mutation_p.S212*|MCC_uc011cwb.1_Nonsense_Mutation_p.S22*|MCC_uc010jcd.1_Intron NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 22 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CAGGGCTGCTGAATGGAGCTG 0.413 19 41 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113831614 113831614 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:113831614T>A uc003kqo.2 + 8 1932 c.1475T>A c.(1474-1476)ATG>AAG p.M492K KCNN2_uc003kqp.2_Missense_Mutation_p.M144K|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 492 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ATGTATGATATGATTTCTGAC 0.418 58 197 --- --- --- --- PASS ZNF474 133923 broad.mit.edu 37 5 121487777 121487777 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:121487777G>T uc003ksv.2 + 2 468 c.92G>T c.(91-93)GGG>GTG p.G31V NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 31 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) AACCAAGCTGGGCTTCTCTCT 0.383 54 196 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127671680 127671680 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:127671680C>G uc003kuu.2 - 28 4163 c.3724G>C c.(3724-3726)GAT>CAT p.D1242H FBN2_uc003kuv.2_Missense_Mutation_p.D1209H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1242 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTCCCCTTACCTGTACAGCCC 0.458 13 36 --- --- --- --- PASS CAMLG 819 broad.mit.edu 37 5 134086449 134086449 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:134086449A>T uc003kzt.2 + 4 805 c.700A>T c.(700-702)AGT>TGT p.S234C CAMLG_uc003kzu.2_Missense_Mutation_p.E80V NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 234 Extracellular (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) CTCTACACAGAGTGAAAAGAA 0.358 13 62 --- --- --- --- PASS DDX46 9879 broad.mit.edu 37 5 134131738 134131738 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:134131738G>C uc003kzw.2 + 15 2020 c.1852G>C c.(1852-1854)GAG>CAG p.E618Q DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 618 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCATTATCAAGAGTCAGGATC 0.348 6 118 --- --- --- --- PASS TXNDC15 79770 broad.mit.edu 37 5 134223872 134223872 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:134223872G>A uc003lac.1 + 2 1249 c.591G>A c.(589-591)CAG>CAA p.Q197Q TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA NM_024715 NP_078991 Q96J42 TXD15_HUMAN disulfide isomerase precursor 197 Extracellular (Potential).|Thioredoxin. cell redox homeostasis integral to membrane ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATATGTCACAGGTAAGGAAAA 0.303 8 67 --- --- --- --- PASS SLC4A9 83697 broad.mit.edu 37 5 139747319 139747319 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:139747319C>G uc003lfm.2 + 16 2297 c.2262C>G c.(2260-2262)TTC>TTG p.F754L SLC4A9_uc003lfj.2_Missense_Mutation_p.F730L|SLC4A9_uc011czg.1_Missense_Mutation_p.F667L|SLC4A9_uc003lfl.2_Missense_Mutation_p.F730L|SLC4A9_uc003lfk.2_Missense_Mutation_p.F716L NM_031467 NP_113655 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate 754 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGCTTCCACCTGGACC 0.587 3 45 --- --- --- --- PASS ZMAT2 153527 broad.mit.edu 37 5 140080051 140080051 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140080051G>T uc003lgy.1 + 1 20 c.6G>T c.(4-6)GCG>GCT p.A2A NM_144723 NP_653324 Q96NC0 ZMAT2_HUMAN zinc finger, matrin type 2 2 nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGATGGCGTCGGGCAGCG 0.542 17 65 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140180824 140180824 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140180824G>C uc003lhf.2 + 1 42 c.42G>C c.(40-42)CTG>CTC p.L14L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L14L NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 14 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAGTGCCTGCTGCTTTCTC 0.512 20 115 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140229714 140229714 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140229714T>C uc003lhu.2 + 1 2358 c.1634T>C c.(1633-1635)CTG>CCG p.L545P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.L545P NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 545 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCGCCTCTGGGCAGCAAC 0.682 17 97 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140530988 140530988 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140530988G>T uc003lir.2 + 1 1150 c.1150G>T c.(1150-1152)GAG>TAG p.E384* PCDHB6_uc011dah.1_Nonsense_Mutation_p.E248* NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 384 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTTCAATAGAGAACAATCT 0.463 21 168 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140553281 140553281 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140553281C>T uc003lit.2 + 1 1039 c.865C>T c.(865-867)CTC>TTC p.L289F NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 289 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAAAGAATTCTCAAAACGTT 0.418 32 140 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140588647 140588647 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140588647G>C uc003liz.2 + 1 357 c.168G>C c.(166-168)GTG>GTC p.V56V PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 56 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACTCGAGGTGAGTGAGCTGT 0.517 20 125 --- --- --- --- PASS PCDHGA12 26025 broad.mit.edu 37 5 140811775 140811775 + Missense_Mutation SNP G C C rs150518735 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140811775G>C uc003lkt.1 + 1 1618 c.1449G>C c.(1447-1449)GAG>GAC p.E483D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E483D NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 483 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGTGAAGAGAACGCCCAGA 0.562 5 69 --- --- --- --- PASS PCDHGC4 56098 broad.mit.edu 37 5 140866045 140866045 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:140866045C>G uc003lky.1 + 1 1305 c.1305C>G c.(1303-1305)CTC>CTG p.L435L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.L435L|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 435 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCTCCTCTCAGTACCCACA 0.468 29 129 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148695757 148695757 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:148695757G>C uc003lqh.2 + 11 1289 c.1158G>C c.(1156-1158)ATG>ATC p.M386I AFAP1L1_uc010jgy.2_Missense_Mutation_p.M386I|AFAP1L1_uc003lqi.1_Missense_Mutation_p.M1I NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 386 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGCTCAATGAGCAGGGCTG 0.592 26 80 --- --- --- --- PASS SYNPO 11346 broad.mit.edu 37 5 150028853 150028853 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:150028853C>G uc003lsn.2 + 3 2122 c.1748C>G c.(1747-1749)TCA>TGA p.S583* SYNPO_uc003lso.3_Nonsense_Mutation_p.S339*|SYNPO_uc003lsp.2_Nonsense_Mutation_p.S339* NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 583 PPxY motif. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCCTCCCTCATATTCTGTC 0.607 31 118 --- --- --- --- PASS ZNF300 91975 broad.mit.edu 37 5 150275763 150275763 + Silent SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:150275763A>T uc003lsy.1 - 6 1305 c.1038T>A c.(1036-1038)GTT>GTA p.V346V IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 346 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCAGTGTGAACTCTCTGAT 0.413 37 146 --- --- --- --- PASS TNIP1 10318 broad.mit.edu 37 5 150436437 150436437 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:150436437C>T uc003ltf.2 - 6 1106 c.517G>A c.(517-519)GAG>AAG p.E173K TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.E173K|TNIP1_uc010jhn.2_Missense_Mutation_p.E173K|TNIP1_uc011dco.1_Missense_Mutation_p.E173K|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.E173K|TNIP1_uc003ltg.2_Missense_Mutation_p.E120K|TNIP1_uc003ltj.2_Missense_Mutation_p.E173K|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.E120K|TNIP1_uc010jhp.1_Missense_Mutation_p.E120K|TNIP1_uc010jhr.1_Missense_Mutation_p.E173K|TNIP1_uc003ltk.2_Missense_Mutation_p.E173K NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 173 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGGCTCCTCGGCACACACA 0.667 10 60 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156787316 156787316 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:156787316G>T uc003lwq.2 + 27 2982 c.2844G>T c.(2842-2844)GTG>GTT p.V948V CYFIP2_uc011ddn.1_Silent_p.V922V|CYFIP2_uc011ddo.1_Silent_p.V752V|CYFIP2_uc003lwr.2_Silent_p.V948V|CYFIP2_uc003lws.2_Silent_p.V948V|CYFIP2_uc003lwt.2_Silent_p.V851V|CYFIP2_uc011ddp.1_Silent_p.V682V NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 973 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCAGTATGTGAAAACACTGA 0.507 33 148 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158223456 158223456 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:158223456G>C uc010jip.2 - 9 1108 c.806C>G c.(805-807)CCG>CGG p.P269R EBF1_uc011ddw.1_Missense_Mutation_p.P137R|EBF1_uc011ddx.1_Missense_Mutation_p.P270R|EBF1_uc003lxl.3_Missense_Mutation_p.P238R NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 269 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTTCACTCGGGCTGATGGC 0.458 T HMGA2 lipoma 16 46 --- --- --- --- PASS STK10 6793 broad.mit.edu 37 5 171520427 171520427 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:171520427G>C uc003mbo.1 - 9 1843 c.1543C>G c.(1543-1545)CTG>GTG p.L515V NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 515 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTGATGGACAGAGAGCCCATC 0.537 21 67 --- --- --- --- PASS SH3PXD2B 285590 broad.mit.edu 37 5 171765617 171765617 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:171765617T>C uc003mbr.2 - 13 2663 c.2492A>G c.(2491-2493)AAG>AGG p.K831R NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 831 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCTCCAATCTTGCCGGTCCC 0.587 5 30 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176001165 176001165 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:176001165A>G uc003mem.1 + 7 553 c.487A>G c.(487-489)ATA>GTA p.I163V CDHR2_uc003men.1_Missense_Mutation_p.I163V NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 163 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CGTGTACTCCATAGAGAAGGT 0.627 OREG0017077 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 29 --- --- --- --- PASS FGFR4 2264 broad.mit.edu 37 5 176520456 176520456 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:176520456G>A uc003mfl.2 + 10 1468 c.1301G>A c.(1300-1302)CGA>CAA p.R434Q FGFR4_uc003mfm.2_Missense_Mutation_p.R434Q|FGFR4_uc011dfu.1_Missense_Mutation_p.E383K|FGFR4_uc003mfo.2_Missense_Mutation_p.R394Q NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 434 Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TCCCTGGTACGAGGCGTGCGT 0.617 TSP Lung(9;0.080) 38 113 --- --- --- --- PASS RUFY1 80230 broad.mit.edu 37 5 179016623 179016623 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:179016623G>A uc003mka.1 + 9 1103 c.1103G>A c.(1102-1104)CGA>CAA p.R368Q RUFY1_uc003mkb.1_Missense_Mutation_p.R260Q|RUFY1_uc003mkc.1_Missense_Mutation_p.R260Q|RUFY1_uc003mkd.1_5'Flank NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 368 Potential. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAATTAATTCGAGAAAGAAGT 0.388 HNSCC(44;0.11) 16 86 --- --- --- --- PASS MAML1 9794 broad.mit.edu 37 5 179201470 179201470 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr5:179201470C>G uc003mkm.2 + 5 2906 c.2643C>G c.(2641-2643)TTC>TTG p.F881L MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 881 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCGCAATTCTCCCAGGCAG 0.627 14 42 --- --- --- --- PASS FOXF2 2295 broad.mit.edu 37 6 1390815 1390815 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:1390815G>T uc003mtm.2 + 1 747 c.633G>T c.(631-633)GTG>GTT p.V211V FOXF2_uc003mtn.2_Silent_p.V211V NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 211 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) ACCGCGTGGTGAGCGGCTTGG 0.736 5 53 --- --- --- --- PASS SERPINB9 5272 broad.mit.edu 37 6 2890510 2890510 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:2890510C>G uc003mug.2 - 7 1139 c.1018G>C c.(1018-1020)GAG>CAG p.E340Q uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.E143Q NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 340 Reactive bond (By similarity). anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) ATGCAGCACTCTGCAACTACA 0.532 24 102 --- --- --- --- PASS FARS2 10667 broad.mit.edu 37 6 5431349 5431349 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:5431349G>A uc010jnv.1 + 4 1184 c.848G>A c.(847-849)GGA>GAA p.G283E FARS2_uc003mwr.2_Missense_Mutation_p.G283E|FARS2_uc003mws.1_Missense_Mutation_p.G283E NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 283 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) AACTTTCATGGAGAATGGCTG 0.418 53 257 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7584134 7584134 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:7584134C>G uc003mxp.1 + 24 6918 c.6639C>G c.(6637-6639)ATC>ATG p.I2213M DSP_uc003mxq.1_Missense_Mutation_p.I1614M NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2213 Plectin 6.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCAAGGAATCAGACAACCTG 0.468 13 127 --- --- --- --- PASS GCM2 9247 broad.mit.edu 37 6 10877569 10877569 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:10877569G>C uc003mzn.3 - 2 219 c.147C>G c.(145-147)ATC>ATG p.I49M SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 49 GCM. cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CGCTGCTGTAGATGAAGCGCA 0.567 9 98 --- --- --- --- PASS SOX4 6659 broad.mit.edu 37 6 21595968 21595968 + Missense_Mutation SNP C G G rs145209759 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:21595968C>G uc003ndi.2 + 1 1997 c.1203C>G c.(1201-1203)TTC>TTG p.F401L NM_003107 NP_003098 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 401 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity 0 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) ACGACGAGTTCGAAGACGACC 0.463 22 10 --- --- --- --- PASS FAM65B 9750 broad.mit.edu 37 6 24848350 24848350 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:24848350G>C uc003neo.1 - 12 1156 c.980C>G c.(979-981)TCA>TGA p.S327* FAM65B_uc011djs.1_Nonsense_Mutation_p.S356*|FAM65B_uc011dju.1_Nonsense_Mutation_p.S361*|FAM65B_uc003nep.2_Nonsense_Mutation_p.S327*|FAM65B_uc011djt.1_Nonsense_Mutation_p.S327* NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 327 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 CCCAGCGCCTGAGGATGCGGT 0.527 5 42 --- --- --- --- PASS HIST1H1E 3008 broad.mit.edu 37 6 26157146 26157146 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:26157146G>T uc003ngq.2 + 1 588 c.528G>T c.(526-528)GCG>GCT p.A176A HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 176 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 CGAAAAAGGCGAAAGCAGCCA 0.587 5 26 --- --- --- --- PASS HIST1H2BD 3017 broad.mit.edu 37 6 26158469 26158469 + Silent SNP G A A rs145666937 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:26158469G>A uc003ngr.2 + 1 121 c.72G>A c.(70-72)AAG>AAA p.K24K HIST1H2BD_uc003ngs.2_Silent_p.K24K NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 24 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 AGGCTCAGAAGAAGGACGGGA 0.537 42 229 --- --- --- --- PASS HIST1H3D 8351 broad.mit.edu 37 6 26197163 26197163 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:26197163C>G uc003ngv.2 - 2 713 c.316G>C c.(316-318)GAG>CAG p.E106Q HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) TTGGTGTCCTCAAACAGCCCC 0.592 51 62 --- --- --- --- PASS HIST1H3D 8351 broad.mit.edu 37 6 26197472 26197472 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:26197472G>C uc003ngv.2 - 2 404 c.7C>G c.(7-9)CGT>GGT p.R3G HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 3 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) TGCTTGGTACGAGCCATTGCG 0.542 11 84 --- --- --- --- PASS BTN2A1 11120 broad.mit.edu 37 6 26465625 26465625 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:26465625C>G uc003nib.1 + 5 1137 c.925C>G c.(925-927)CAA>GAA p.Q309E BTN2A1_uc003nic.1_Missense_Mutation_p.Q309E|BTN2A1_uc003nid.1_Missense_Mutation_p.Q157E|BTN2A1_uc011dko.1_Missense_Mutation_p.Q248E|BTN2A1_uc010jqk.1_Missense_Mutation_p.Q69E NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 309 Cytoplasmic (Potential). lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 GGAAGAACTTCAAGTAAAAGG 0.219 12 131 --- --- --- --- PASS PRSS16 10279 broad.mit.edu 37 6 27216714 27216714 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:27216714C>T uc003nja.2 + 3 338 c.326C>T c.(325-327)TCA>TTA p.S109L PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njc.1_RNA|PRSS16_uc003njd.2_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 109 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 GGGCCTGGCTCAGTGATGAGA 0.567 37 127 --- --- --- --- PASS ZNF184 7738 broad.mit.edu 37 6 27420473 27420473 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:27420473C>T uc003njj.2 - 5 1676 c.865G>A c.(865-867)GAG>AAG p.E289K ZNF184_uc010jqv.2_Missense_Mutation_p.E289K|ZNF184_uc003nji.2_Missense_Mutation_p.E289K NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 289 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GATGGACCCTCAATGAAGCCT 0.378 40 175 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054830 29054830 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:29054830G>C uc003nlx.2 - 1 261 c.196C>G c.(196-198)CTC>GTC p.L66V NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 AAGATGGAGAGATTAGTGAGA 0.403 22 196 --- --- --- --- PASS OR14J1 442191 broad.mit.edu 37 6 29274746 29274746 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:29274746C>G uc011dln.1 + 1 280 c.280C>G c.(280-282)CAG>GAG p.Q94E NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCTCTTGTTCAGTGCATTCT 0.458 6 438 --- --- --- --- PASS OR14J1 442191 broad.mit.edu 37 6 29275385 29275385 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:29275385G>C uc011dln.1 + 1 919 c.919G>C c.(919-921)GAG>CAG p.E307Q NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTCAAAGGAAGAGCTTCCTCA 0.294 53 138 --- --- --- --- PASS TRIM40 135644 broad.mit.edu 37 6 30104956 30104956 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:30104956C>G uc003npk.2 + 2 529 c.143C>G c.(142-144)TCT>TGT p.S48C TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Missense_Mutation_p.S48C NM_138700 NP_619645 Q6P9F5 TRI40_HUMAN tripartite motif-containing 40 48 RING-type. intracellular zinc ion binding ovary(1) 1 GCCTCAGCCTCTGGGGTCTTC 0.607 14 89 --- --- --- --- PASS TRIM40 135644 broad.mit.edu 37 6 30105078 30105078 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:30105078C>T uc003npk.2 + 2 651 c.265C>T c.(265-267)CTA>TTA p.L89L TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Silent_p.L89L NM_138700 NP_619645 Q6P9F5 TRI40_HUMAN tripartite motif-containing 40 89 B box-type. intracellular zinc ion binding ovary(1) 1 CAGACTTCTTCTATGTGTGGA 0.542 34 221 --- --- --- --- PASS GNL1 2794 broad.mit.edu 37 6 30523492 30523492 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:30523492G>C uc003nqh.2 - 2 1107 c.79C>G c.(79-81)CAA>GAA p.Q27E GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.Q25E|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 27 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 AGCCCATCTTGAAGCCCTGCG 0.652 10 71 --- --- --- --- PASS TCF19 6941 broad.mit.edu 37 6 31129585 31129585 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:31129585G>C uc003nss.2 + 3 1124 c.600G>C c.(598-600)AAG>AAC p.K200N TCF19_uc003nst.2_Missense_Mutation_p.K200N NM_001077511 NP_001070979 Q9Y242 TCF19_HUMAN transcription factor 19 200 Pro-rich. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GTGGACCAAAGAGCCTGCCTG 0.622 4 36 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31593854 31593854 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:31593854G>T uc003nvb.3 + 9 1146 c.897G>T c.(895-897)GAG>GAT p.E299D BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.E299D|BAT2_uc003nve.2_3'UTR NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 299 1-3.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 GCTTAGTAGAGCCTGTGGGTC 0.473 6 123 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31599685 31599685 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:31599685C>T uc003nvb.3 + 16 3484 c.3235C>T c.(3235-3237)CCC>TCC p.P1079S BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P1079S NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1079 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CCCTCCTGCTCCCCGAGGCCG 0.657 6 35 --- --- --- --- PASS NEU1 4758 broad.mit.edu 37 6 31829147 31829147 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:31829147C>T uc003nxq.3 - 3 589 c.433G>A c.(433-435)GAT>AAT p.D145N NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Missense_Mutation_p.D145N NM_000434 NP_000425 Q99519 NEUR1_HUMAN neuraminidase precursor 145 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding ovary(1) 1 Oseltamivir(DB00198)|Zanamivir(DB00558) GTCTCAACATCGCTCACTACT 0.512 8 128 --- --- --- --- PASS C4A 720 broad.mit.edu 37 6 31996957 31996957 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:31996957C>G uc011dpd.1 + 28 3569 c.3518C>G c.(3517-3519)TCA>TGA p.S1173* C4A_uc011dpe.1_Nonsense_Mutation_p.S1173* NM_007293 NP_009224 P0C0L4 CO4A_HUMAN complement component 4A preproprotein 1173 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity 0 GCCTCCATCTCAAAGGCAAGC 0.612 36 261 --- --- --- --- PASS MAPK14 1432 broad.mit.edu 37 6 36041850 36041850 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:36041850G>A uc003olp.2 + 6 953 c.472G>A c.(472-474)GTG>ATG p.V158M MAPK14_uc011dth.1_Missense_Mutation_p.V158M|MAPK14_uc003olo.2_Missense_Mutation_p.V158M|MAPK14_uc003olq.2_Missense_Mutation_p.V158M|MAPK14_uc003olr.2_Missense_Mutation_p.V158M|MAPK14_uc011dti.1_Missense_Mutation_p.V81M NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 158 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 TAATCTAGCTGTGAATGAAGA 0.378 68 127 --- --- --- --- PASS C6orf89 221477 broad.mit.edu 37 6 36870107 36870107 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:36870107C>A uc003omx.2 + 4 584 c.300C>A c.(298-300)CTC>CTA p.L100L C6orf89_uc003omv.2_5'UTR|C6orf89_uc003omw.2_Silent_p.L107L|C6orf89_uc011dtr.1_5'UTR NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 100 integral to membrane ovary(1) 1 GGCGCTCACTCATCCATCACA 0.493 11 259 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36922627 36922627 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:36922627G>T uc003ona.2 + 1 419 c.91G>T c.(91-93)GAG>TAG p.E31* PI16_uc003omz.1_Nonsense_Mutation_p.E31*|PI16_uc003onb.2_Nonsense_Mutation_p.E31* NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 31 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 CCTCACAGATGAGGAGAAACG 0.512 6 93 --- --- --- --- PASS RNF8 9025 broad.mit.edu 37 6 37344705 37344705 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:37344705G>C uc003onq.3 + 6 1325 c.1132G>C c.(1132-1134)GAG>CAG p.E378Q RNF8_uc003onr.3_Missense_Mutation_p.E378Q|RNF8_uc011dtx.1_Missense_Mutation_p.E310Q NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 378 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 CTTGCAGGAAGAGAAGGAGAA 0.403 13 107 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38850814 38850814 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:38850814G>T uc003ooe.1 + 52 7936 c.7336G>T c.(7336-7338)GCA>TCA p.A2446S NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGACACCATTGCAAAACAACA 0.328 78 251 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38866091 38866091 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:38866091G>C uc003ooe.1 + 59 8947 c.8347G>C c.(8347-8349)GAA>CAA p.E2783Q NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ACAGTTCAATGAAATCATTAG 0.328 44 324 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38883047 38883047 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:38883047A>T uc003ooe.1 + 66 9983 c.9383A>T c.(9382-9384)GAC>GTC p.D3128V uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GAGGTAAAGGACAAAGCCCAA 0.418 37 57 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40399929 40399929 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:40399929G>A uc003oph.1 - 2 1389 c.924C>T c.(922-924)CTC>CTT p.L308L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 308 Extracellular (Potential).|Ig-like. cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CTTTGCACTTGAGTGTGGCCG 0.597 19 94 --- --- --- --- PASS PGC 5225 broad.mit.edu 37 6 41704736 41704736 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:41704736C>A uc003ora.1 - 9 1070 c.1021G>T c.(1021-1023)GGC>TGC p.G341C TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 341 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GTGCAGTAGCCGTTGTTCTGC 0.378 3 35 --- --- --- --- PASS TRERF1 55809 broad.mit.edu 37 6 42237280 42237280 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:42237280C>G uc003osd.2 - 5 612 c.49G>C c.(49-51)GAG>CAG p.E17Q TRERF1_uc011duq.1_Missense_Mutation_p.E17Q|TRERF1_uc003osb.2_5'UTR|TRERF1_uc003osc.2_5'UTR|TRERF1_uc003ose.2_Missense_Mutation_p.E17Q|TRERF1_uc010jxu.1_RNA NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 17 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AAAAGGTTCTCACTACCATGG 0.527 14 140 --- --- --- --- PASS SRF 6722 broad.mit.edu 37 6 43143550 43143550 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:43143550C>G uc003oui.2 + 3 1362 c.887C>G c.(886-888)TCC>TGC p.S296C SRF_uc011dvf.1_Missense_Mutation_p.S92C NM_003131 NP_003122 P11831 SRF_HUMAN serum response factor (c-fos serum response 296 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGCGGCCCCTCCTTTCCCATC 0.592 34 187 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43153205 43153205 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:43153205C>G uc003ouk.2 + 3 682 c.607C>G c.(607-609)CAC>GAC p.H203D CUL9_uc003ouj.1_Missense_Mutation_p.H203D|CUL9_uc003oul.2_Missense_Mutation_p.H203D|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 203 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GAGTCGGGCTCACGTCCTTCT 0.488 14 88 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43153813 43153813 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:43153813A>G uc003ouk.2 + 4 946 c.871A>G c.(871-873)AGA>GGA p.R291G CUL9_uc003ouj.1_Missense_Mutation_p.R291G|CUL9_uc003oul.2_Missense_Mutation_p.R291G|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 291 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 ATGTGCCACAAGAGAGAAAAG 0.592 32 131 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43400778 43400778 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:43400778C>A uc003ouy.1 + 3 1275 c.1060C>A c.(1060-1062)CAG>AAG p.Q354K ABCC10_uc003ouz.1_Missense_Mutation_p.Q311K|ABCC10_uc010jyo.1_5'Flank NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 354 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Q311*(1) ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGTAACACTTCAGGCACGGGG 0.592 8 191 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43417159 43417159 + Splice_Site SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:43417159G>C uc003ouy.1 + 21 4419 c.4204_splice c.e21-1 p.I1402_splice ABCC10_uc003ouz.1_Splice_Site_p.I1374_splice|ABCC10_uc010jyo.1_Splice_Site_p.I508_splice NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCATATTCCAGATCCTGTGTA 0.567 9 140 --- --- --- --- PASS TJAP1 93643 broad.mit.edu 37 6 43473279 43473279 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:43473279G>C uc003ovd.2 + 11 1736 c.1360G>C c.(1360-1362)GAT>CAT p.D454H TJAP1_uc003ovf.2_Missense_Mutation_p.D444H|TJAP1_uc003ove.2_Missense_Mutation_p.D444H|TJAP1_uc003ovc.2_Missense_Mutation_p.D444H|TJAP1_uc010jyp.2_Missense_Mutation_p.D413H|TJAP1_uc011dvh.1_Missense_Mutation_p.D444H|TJAP1_uc003ovg.2_Missense_Mutation_p.D320H|TJAP1_uc011dvi.1_Missense_Mutation_p.D454H|TJAP1_uc011dvj.1_Missense_Mutation_p.D254H|TJAP1_uc003ovi.2_Missense_Mutation_p.D320H NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 454 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CGCTGACAGAGATGAGGTGGT 0.607 16 250 --- --- --- --- PASS TMEM63B 55362 broad.mit.edu 37 6 44107446 44107446 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:44107446G>C uc003owr.2 + 8 616 c.552G>C c.(550-552)GAG>GAC p.E184D TMEM63B_uc003owq.1_Missense_Mutation_p.E184D|TMEM63B_uc010jyy.1_Missense_Mutation_p.E87D|TMEM63B_uc003ows.2_Missense_Mutation_p.E87D|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 184 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ACCCCACAGAGAACAATGCCT 0.592 7 280 --- --- --- --- PASS TMEM63B 55362 broad.mit.edu 37 6 44116030 44116030 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:44116030G>A uc003owr.2 + 13 1093 c.1029G>A c.(1027-1029)CTG>CTA p.L343L TMEM63B_uc003owq.1_Silent_p.L343L|TMEM63B_uc003ows.2_Silent_p.L246L|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 343 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) AGCAGAAGCTGAAGGAAGACT 0.547 21 178 --- --- --- --- PASS HSP90AB1 3326 broad.mit.edu 37 6 44217143 44217143 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:44217143G>C uc003oxa.1 + 3 261 c.177G>C c.(175-177)CTG>CTC p.L59L HSP90AB1_uc011dvr.1_Silent_p.L59L|HSP90AB1_uc003oxb.1_Silent_p.L59L|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 59 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATGAGAGCCTGACAGACCCTT 0.368 16 162 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46669616 46669616 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:46669616G>T uc003oyj.2 + 4 6283 c.6283G>T c.(6283-6285)GAG>TAG p.E2095* TDRD6_uc010jze.2_Nonsense_Mutation_p.E2059* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 2095 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GGAGGTGATGGAGATTTAACC 0.383 42 346 --- --- --- --- PASS OPN5 221391 broad.mit.edu 37 6 47762984 47762984 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:47762984G>C uc003ozc.2 + 4 446 c.441G>C c.(439-441)AAG>AAC p.K147N OPN5_uc003ozd.2_5'UTR NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 147 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TGAAAAGAAAGCACGCCTACA 0.517 13 59 --- --- --- --- PASS ICK 22858 broad.mit.edu 37 6 52874338 52874338 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:52874338G>A uc003pbh.2 - 13 2010 c.1520C>T c.(1519-1521)TCG>TTG p.S507L ICK_uc003pbi.2_Missense_Mutation_p.S507L NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 507 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) GCCTGGATTCGAGAGTATgcc 0.264 81 138 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55214895 55214895 + Missense_Mutation SNP G T T rs147652095 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:55214895G>T uc003pcm.1 + 4 408 c.322G>T c.(322-324)GTG>TTG p.V108L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 108 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCTAGATAACGTGAAAGAGGA 0.299 45 91 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56504285 56504285 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:56504285C>G uc003pdf.2 - 20 2751 c.2723G>C c.(2722-2724)AGA>ACA p.R908T DST_uc003pcz.3_Missense_Mutation_p.R730T|DST_uc011dxj.1_Missense_Mutation_p.R759T|DST_uc011dxk.1_Missense_Mutation_p.R770T|DST_uc011dxl.1_Missense_Mutation_p.R759T|DST_uc003pcy.3_Missense_Mutation_p.R404T|DST_uc003pdb.2_Missense_Mutation_p.R404T|DST_uc003pdc.3_Missense_Mutation_p.R404T|DST_uc003pdd.3_Missense_Mutation_p.R404T|DST_uc003pde.2_Missense_Mutation_p.R846T NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 730 Spectrin 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTTGGTGTTTCTCTCACTCCA 0.353 46 332 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64421998 64421998 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:64421998C>G uc003pep.1 + 15 4540 c.4514C>G c.(4513-4515)TCA>TGA p.S1505* PHF3_uc003pen.2_Nonsense_Mutation_p.S1417*|PHF3_uc011dxs.1_Nonsense_Mutation_p.S774* NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1505 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CAGACCAACTCAAAAATAGAG 0.358 26 140 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69703688 69703688 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:69703688G>C uc003pev.3 + 11 2211 c.1763G>C c.(1762-1764)CGA>CCA p.R588P BAI3_uc010kak.2_Missense_Mutation_p.R588P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 588 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AAGGGGCAGCGAATGCTGGCA 0.418 58 509 --- --- --- --- PASS LMBRD1 55788 broad.mit.edu 37 6 70386398 70386398 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:70386398G>A uc003pfa.2 - 15 1568 c.1453C>T c.(1453-1455)CAC>TAC p.H485Y LMBRD1_uc003pey.2_Missense_Mutation_p.H281Y|LMBRD1_uc003pez.2_Missense_Mutation_p.H412Y|LMBRD1_uc010kal.2_Missense_Mutation_p.H412Y|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 485 Extracellular (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 CAGAACTTGTGAAGGAATAGG 0.383 14 97 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70859600 70859600 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:70859600C>G uc003pfc.1 + 28 2015 c.1898C>G c.(1897-1899)GCC>GGC p.A633G COL19A1_uc010kam.1_Missense_Mutation_p.A529G NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 633 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ACTCAGGGCGCCCAAGGACCA 0.378 44 81 --- --- --- --- PASS FAM135A 57579 broad.mit.edu 37 6 71236201 71236201 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:71236201G>C uc003pfj.2 + 13 3547 c.3414G>C c.(3412-3414)CTG>CTC p.L1138L FAM135A_uc003pfi.2_Silent_p.L942L|FAM135A_uc003pfh.2_Silent_p.L925L|FAM135A_uc003pfl.2_Silent_p.L805L|FAM135A_uc003pfn.2_Silent_p.L344L|FAM135A_uc003pfo.1_Silent_p.L509L|FAM135A_uc010kan.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1138 central_nervous_system(1) 1 GTGACTATCTGAGAGATGGTA 0.368 45 385 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73815019 73815019 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:73815019C>A uc003pgk.2 + 6 1305 c.958C>A c.(958-960)CTA>ATA p.L320I KCNQ5_uc003pgj.3_Missense_Mutation_p.L320I|KCNQ5_uc011dyh.1_Missense_Mutation_p.L320I|KCNQ5_uc011dyi.1_Missense_Mutation_p.L320I|KCNQ5_uc010kat.2_Missense_Mutation_p.L320I|KCNQ5_uc011dyj.1_Missense_Mutation_p.L320I|KCNQ5_uc011dyk.1_Missense_Mutation_p.L79I NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 320 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CAAAACTCCCCTAACTTGGCT 0.408 123 432 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74466381 74466381 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:74466381C>G uc003php.2 + 6 1074 c.649C>G c.(649-651)CAA>GAA p.Q217E CD109_uc010kaz.2_Missense_Mutation_p.Q217E|CD109_uc003phq.2_Missense_Mutation_p.Q217E|CD109_uc010kba.2_Missense_Mutation_p.Q140E NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 217 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 GACATACTATCAATCATTTCA 0.313 34 275 --- --- --- --- PASS IRAK1BP1 134728 broad.mit.edu 37 6 79607914 79607914 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:79607914G>C uc003pim.2 + 4 751 c.646G>C c.(646-648)GAT>CAT p.D216H IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Missense_Mutation_p.D129H NM_001010844 NP_001010844 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 216 I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) AGGCCAAATAGATGATCACCA 0.363 3 127 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79650830 79650830 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:79650830G>C uc003pir.2 - 40 5272 c.5046C>G c.(5044-5046)ATC>ATG p.I1682M PHIP_uc003piq.2_Missense_Mutation_p.I706M|PHIP_uc011dyp.1_Missense_Mutation_p.I1681M|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.I568M NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1682 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTTCATCTCTGATGGGATGCA 0.363 18 553 --- --- --- --- PASS UBE2CBP 90025 broad.mit.edu 37 6 83748181 83748181 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:83748181T>C uc003pjp.2 - 5 729 c.621A>G c.(619-621)GTA>GTG p.V207V UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.V175V NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 207 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) GCTTACAAATTACTTTGGTAT 0.348 61 196 --- --- --- --- PASS ANKRD6 22881 broad.mit.edu 37 6 90333770 90333770 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:90333770G>A uc003pni.3 + 12 1553 c.1212G>A c.(1210-1212)GTG>GTA p.V404V ANKRD6_uc003pne.3_Silent_p.V404V|ANKRD6_uc003pnf.3_Silent_p.V369V|ANKRD6_uc011dzy.1_Silent_p.V404V|ANKRD6_uc010kcd.2_Silent_p.V345V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 404 protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) ATGGGAAAGTGATGCAGGTAC 0.527 11 25 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90382322 90382322 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:90382322C>G uc003pnn.1 - 81 13690 c.13574G>C c.(13573-13575)AGA>ACA p.R4525T NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4525 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCATTCTTTCTTTCTTCTAA 0.403 5 229 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90440532 90440532 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:90440532C>G uc003pnn.1 - 35 5169 c.5053G>C c.(5053-5055)GAG>CAG p.E1685Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1685 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATCTTCAACTCATTTTTCTGA 0.368 24 186 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90574048 90574048 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:90574048G>C uc003pnr.2 + 7 2816 c.2620G>C c.(2620-2622)GAA>CAA p.E874Q CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E874Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E874Q NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 874 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTTAGAAATGAAAGCCCACC 0.358 3 28 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90576206 90576206 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:90576206A>G uc003pnr.2 + 8 3393 c.3197A>G c.(3196-3198)CAC>CGC p.H1066R CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.H1066R|CASP8AP2_uc011dzz.1_Missense_Mutation_p.H1066R NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1066 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) ATACAATTTCACAGAATTATT 0.284 10 22 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90578413 90578413 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:90578413C>A uc003pnr.2 + 8 5600 c.5404C>A c.(5404-5406)CCC>ACC p.P1802T CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1802T|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1802T NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1802 NCOA2-binding. cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CACAGAATCTCCCAGTTCATG 0.383 34 52 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 93956688 93956688 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:93956688C>G uc003poe.2 - 15 2789 c.2548G>C c.(2548-2550)GAA>CAA p.E850Q EPHA7_uc003pof.2_Missense_Mutation_p.E845Q|EPHA7_uc011eac.1_Missense_Mutation_p.E846Q NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 850 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TAACCTTCTTCTATTGCTTTT 0.378 10 113 --- --- --- --- PASS POU3F2 5454 broad.mit.edu 37 6 99283482 99283482 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:99283482C>T uc003ppe.2 + 1 903 c.733C>T c.(733-735)CCG>TCG p.P245S NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 245 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) cccgccgcccccgcAGGGTCC 0.627 20 69 --- --- --- --- PASS PRDM13 59336 broad.mit.edu 37 6 100062549 100062549 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:100062549A>G uc003pqg.1 + 4 2299 c.2038A>G c.(2038-2040)AAG>GAG p.K680E NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 680 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) TGGGGATCCCAAGAGCGACGA 0.692 32 73 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101095199 101095199 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:101095199C>G uc003pqk.2 - 21 3710 c.3381G>C c.(3379-3381)TTG>TTC p.L1127F ASCC3_uc011eai.1_Missense_Mutation_p.L1029F NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1127 SEC63 1. 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) AAAATTGTCTCAAAGGGCTAG 0.413 20 187 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109867070 109867070 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:109867070C>G uc003ptn.2 - 26 3302 c.3225G>C c.(3223-3225)CAG>CAC p.Q1075H AKD1_uc011eat.1_Missense_Mutation_p.Q154H NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1075 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 AGATTACTACCTGCTTTTTTG 0.224 27 222 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111634600 111634600 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:111634600T>C uc003puy.3 - 28 8882 c.8559A>G c.(8557-8559)AAA>AAG p.K2853K REV3L_uc003pux.3_Silent_p.K2775K|REV3L_uc003puz.3_Silent_p.K2775K|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2853 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTCTATTCCTTTTGCATCAA 0.383 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 28 203 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111737632 111737632 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:111737632G>C uc003puy.3 - 2 506 c.183C>G c.(181-183)CTC>CTG p.L61L REV3L_uc003pux.3_5'UTR|REV3L_uc003puz.3_5'UTR NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 61 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ATGGCACATAGAGGTAAGGAA 0.388 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 21 65 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112439049 112439049 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:112439049C>A uc003pvu.2 - 35 5183 c.4874G>T c.(4873-4875)GGG>GTG p.G1625V LAMA4_uc003pvv.2_Missense_Mutation_p.G1618V|LAMA4_uc003pvt.2_Missense_Mutation_p.G1618V NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1625 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GATGGAGGCCCCATTGAGCTG 0.438 45 112 --- --- --- --- PASS DSE 29940 broad.mit.edu 37 6 116747819 116747819 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:116747819A>C uc003pws.2 + 3 693 c.499A>C c.(499-501)AAC>CAC p.N167H DSE_uc011ebf.1_Missense_Mutation_p.N167H|DSE_uc011ebg.1_Missense_Mutation_p.N186H|DSE_uc003pwt.2_Missense_Mutation_p.N167H NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 167 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CTTCTTGTACAACTACCTGAG 0.443 29 170 --- --- --- --- PASS SLC35F1 222553 broad.mit.edu 37 6 118635325 118635325 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:118635325C>G uc003pxx.3 + 8 1338 c.1137C>G c.(1135-1137)GAC>GAG p.D379E SLC35F1_uc003pxy.1_Missense_Mutation_p.D184E NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 379 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) CTGTTGTGGACTTACCGACCA 0.592 42 183 --- --- --- --- PASS NCOA7 135112 broad.mit.edu 37 6 126176272 126176272 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:126176272G>C uc010kes.2 + 5 606 c.157G>C c.(157-159)GAC>CAC p.D53H NCOA7_uc003qae.3_Missense_Mutation_p.D53H|NCOA7_uc003qah.2_Missense_Mutation_p.D53H|NCOA7_uc003qai.2_Missense_Mutation_p.D53H|NCOA7_uc010ket.2_Intron|NCOA7_uc003qaf.2_Missense_Mutation_p.D53H|NCOA7_uc003qag.2_Missense_Mutation_p.D53H|NCOA7_uc003qaj.2_Missense_Mutation_p.D53H NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 53 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TTTAGAGCCAGACAAGTGCAA 0.378 28 292 --- --- --- --- PASS PTPRK 5796 broad.mit.edu 37 6 128304106 128304106 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:128304106T>C uc003qbk.2 - 24 3771 c.3404A>G c.(3403-3405)CAT>CGT p.H1135R PTPRK_uc003qbj.2_Missense_Mutation_p.H1136R|PTPRK_uc010kfc.2_Missense_Mutation_p.H1142R|PTPRK_uc011ebu.1_Missense_Mutation_p.H1158R NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1135 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AATGGCATCATGAATAAAAAT 0.318 52 112 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129691052 129691052 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:129691052C>T uc003qbn.2 + 34 4981 c.4876C>T c.(4876-4878)CAG>TAG p.Q1626* LAMA2_uc003qbo.2_Nonsense_Mutation_p.Q1626* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1626 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTGTCACCTCAGCGGGCCCC 0.443 5 138 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130372465 130372465 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:130372465G>A uc003qbt.2 + 6 531 c.361G>A c.(361-363)GAG>AAG p.E121K L3MBTL3_uc003qbu.2_Missense_Mutation_p.E96K NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 121 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCAGTTCTGTGAGAACTGTTG 0.418 5 202 --- --- --- --- PASS TAAR1 134864 broad.mit.edu 37 6 132967047 132967047 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:132967047G>C uc003qdm.1 - 1 96 c.96C>G c.(94-96)CTC>CTG p.L32L NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 32 Helical; Name=1; (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TCAGAATTATGAGCACCATTA 0.383 71 365 --- --- --- --- PASS SGK1 6446 broad.mit.edu 37 6 134495197 134495197 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:134495197C>G uc003qen.3 - 3 263 c.174G>C c.(172-174)TTG>TTC p.L58F SGK1_uc003qeo.3_Missense_Mutation_p.L153F|SGK1_uc011ect.1_Missense_Mutation_p.L48F|SGK1_uc011ecu.1_Missense_Mutation_p.L58F|SGK1_uc011ecv.1_Missense_Mutation_p.L72F|SGK1_uc011ecw.1_Missense_Mutation_p.L86F NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 58 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GGGAGATCTTCAAGATGGACT 0.498 31 155 --- --- --- --- PASS PDE7B 27115 broad.mit.edu 37 6 136512787 136512787 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:136512787G>T uc003qgp.2 + 13 1465 c.1162G>T c.(1162-1164)GAA>TAA p.E388* uc003qgq.1_Intron|PDE7B_uc003qgr.2_Nonsense_Mutation_p.E440* NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 388 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(1) 1 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GCTCTTCCGGGAATGGGCCCA 0.587 5 36 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136904834 136904834 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:136904834G>C uc003qhc.2 - 24 3631 c.3270C>G c.(3268-3270)CTC>CTG p.L1090L MAP3K5_uc011edj.1_Silent_p.L337L|MAP3K5_uc011edk.1_Silent_p.L936L NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1090 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GGCTTGCAATGAGGGTTGTGA 0.448 29 185 --- --- --- --- PASS NMBR 4829 broad.mit.edu 37 6 142409670 142409670 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:142409670G>C uc003qiu.2 - 1 267 c.126C>G c.(124-126)ATC>ATG p.I42M NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 42 Helical; Name=1; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TCACACAGCGGATCACCAACT 0.607 11 56 --- --- --- --- PASS C6orf72 116254 broad.mit.edu 37 6 149899972 149899972 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:149899972C>G uc003qmq.1 + 4 319 c.292C>G c.(292-294)CTT>GTT p.L98V C6orf72_uc010kie.1_Translation_Start_Site NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 98 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) GAATGAAAATCTTGAAAATTT 0.318 5 54 --- --- --- --- PASS C6orf72 116254 broad.mit.edu 37 6 149901832 149901832 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:149901832C>G uc003qmq.1 + 6 717 c.690C>G c.(688-690)CTC>CTG p.L230L C6orf72_uc010kie.1_Silent_p.L110L NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 230 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) AAACTCCTCTCAGAGCAGAGC 0.388 4 142 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151917551 151917551 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:151917551G>T uc003qol.2 + 9 1638 c.1549G>T c.(1549-1551)GAG>TAG p.E517* NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 517 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GCTGGAGGAGGAGAAGCAGGC 0.522 12 88 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152532704 152532704 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:152532704A>C uc010kiw.2 - 124 23116 c.22514T>G c.(22513-22515)TTC>TGC p.F7505C SYNE1_uc010kiv.2_Missense_Mutation_p.F2029C|SYNE1_uc003qos.3_Missense_Mutation_p.F2029C|SYNE1_uc003qot.3_Missense_Mutation_p.F7434C|SYNE1_uc003qou.3_Missense_Mutation_p.F7505C|SYNE1_uc003qor.3_Missense_Mutation_p.F405C NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7505 Cytoplasmic (Potential).|Spectrin 25. 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) CTGACGACTGAACATCTCGGC 0.333 HNSCC(10;0.0054) 25 100 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152629663 152629663 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:152629663A>G uc010kiw.2 - 91 17909 c.17307T>C c.(17305-17307)AGT>AGC p.S5769S SYNE1_uc010kiv.2_Silent_p.S293S|SYNE1_uc003qos.3_Silent_p.S293S|SYNE1_uc003qot.3_Silent_p.S5698S|SYNE1_uc003qou.3_Silent_p.S5769S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5769 Cytoplasmic (Potential).|Spectrin 19. 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) CCTGTATGTTACTGGTGGCAA 0.443 HNSCC(10;0.0054) 97 209 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152697611 152697611 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:152697611G>A uc010kiw.2 - 58 9831 c.9229C>T c.(9229-9231)CAG>TAG p.Q3077* SYNE1_uc003qot.3_Nonsense_Mutation_p.Q3084*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q3077*|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Nonsense_Mutation_p.Q155*|SYNE1_uc010kjb.1_3'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3077 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) AACCACTGCTGGAAATCCCTG 0.388 HNSCC(10;0.0054) 24 116 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159670162 159670162 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:159670162C>G uc010kjv.2 + 16 4982 c.4782C>G c.(4780-4782)ATC>ATG p.I1594M NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1594 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AAGGCGCCATCAGTTCCTTTC 0.448 5 23 --- --- --- --- PASS WTAP 9589 broad.mit.edu 37 6 160176217 160176217 + Silent SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:160176217A>T uc003qsl.2 + 8 987 c.765A>T c.(763-765)ACA>ACT p.T255T WTAP_uc003qso.2_Silent_p.T136T NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 255 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GCAGGACTACAGCTTCTGAAC 0.552 15 52 --- --- --- --- PASS ACAT2 39 broad.mit.edu 37 6 160198422 160198422 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:160198422C>G uc010kjy.2 + 7 977 c.846C>G c.(844-846)TCC>TCG p.S282S ACAT2_uc011efw.1_Silent_p.S311S NM_005891 NP_005882 Q9BWD1 THIC_HUMAN acetyl-Coenzyme A acetyltransferase 2 282 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GGATAGTTTCCTGGTCCCAAG 0.428 31 87 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160468358 160468358 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:160468358C>G uc003qta.2 + 16 2367 c.2219C>G c.(2218-2220)CCT>CGT p.P740R NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 740 5.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTGGGCTTCCCTGAATATCAG 0.512 7 66 --- --- --- --- PASS MAP3K4 4216 broad.mit.edu 37 6 161470172 161470172 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:161470172G>C uc003qtn.2 + 3 1010 c.868G>C c.(868-870)GCC>CCC p.A290P MAP3K4_uc010kkc.1_Missense_Mutation_p.A290P|MAP3K4_uc003qto.2_Missense_Mutation_p.A290P|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 290 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGCCCGTCAAGCCATCCCAGA 0.423 25 146 --- --- --- --- PASS FAM120B 84498 broad.mit.edu 37 6 170639566 170639566 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr6:170639566G>C uc003qxp.2 + 4 2053 c.1945G>C c.(1945-1947)GAG>CAG p.E649Q FAM120B_uc003qxo.1_Missense_Mutation_p.E649Q|FAM120B_uc011ehd.1_5'UTR NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 649 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AGCTGTCAAGGAGTGGTTTGT 0.542 10 101 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7546791 7546791 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:7546791C>T uc003src.1 - 10 1046 c.929G>A c.(928-930)GGA>GAA p.G310E COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.2_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 310 Collagen-like 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCCTGGGGATCCCTGTGGAAT 0.363 43 262 --- --- --- --- PASS ARL4A 10124 broad.mit.edu 37 7 12728313 12728313 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:12728313C>G uc003ssp.2 + 2 711 c.434C>G c.(433-435)TCA>TGA p.S145* ARL4A_uc003ssq.2_Nonsense_Mutation_p.S145*|ARL4A_uc003ssr.2_Nonsense_Mutation_p.S145*|ARL4A_uc003sss.2_Nonsense_Mutation_p.S145* NM_001037164 NP_001032241 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 145 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) TTGTCACTTTCAGAAATTGAG 0.393 56 151 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14724925 14724925 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:14724925G>A uc003ssz.2 - 9 961 c.774C>T c.(772-774)TGC>TGT p.C258C DGKB_uc011jxt.1_Silent_p.C251C|DGKB_uc003sta.2_Silent_p.C258C|DGKB_uc011jxu.1_Silent_p.C258C|DGKB_uc011jxv.1_Silent_p.C258C NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 258 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) GGCAAAGGTTGCAATAGGCAG 0.493 7 89 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20782508 20782508 + Nonsense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:20782508T>A uc003suw.3 + 16 2244 c.1698T>A c.(1696-1698)TGT>TGA p.C566* ABCB5_uc010kuh.2_Nonsense_Mutation_p.C1011* NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 566 Cytoplasmic (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGGACACATGTGAAGGGAATT 0.428 30 73 --- --- --- --- PASS FAM126A 84668 broad.mit.edu 37 7 23030703 23030703 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:23030703C>G uc003svm.3 - 2 283 c.28G>C c.(28-30)GAG>CAG p.E10Q FAM126A_uc003svn.3_Intron|FAM126A_uc011jyr.1_Missense_Mutation_p.E10Q NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 10 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 AACCATTCCTCCACAACCCCT 0.303 4 165 --- --- --- --- PASS HOXA11 3207 broad.mit.edu 37 7 27224326 27224326 + Silent SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:27224326T>A uc003syx.2 - 1 510 c.438A>T c.(436-438)ACA>ACT p.T146T HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 146 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 TGCCGTAGGCTGTCTCGAAAA 0.542 T NUP98 CML 6 59 --- --- --- --- PASS ZNRF2 223082 broad.mit.edu 37 7 30402003 30402003 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:30402003G>C uc003tat.2 + 4 1733 c.682G>C c.(682-684)GAA>CAA p.E228Q NM_147128 NP_667339 Q8NHG8 ZNRF2_HUMAN zinc finger/RING finger 2 228 RING-type; atypical. cell junction|endosome membrane|lysosomal membrane|presynaptic membrane ligase activity|zinc ion binding 0 CTGCATAGATGAATGGTTTGA 0.303 18 119 --- --- --- --- PASS FKBP9 11328 broad.mit.edu 37 7 33014871 33014871 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:33014871C>G uc003tdh.2 + 3 626 c.445C>G c.(445-447)CAG>GAG p.Q149E AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.Q202E|FKBP9_uc003tdg.2_Missense_Mutation_p.Q149E|FKBP9_uc010kwm.2_Missense_Mutation_p.Q56E NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 149 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) AGACCAGGTTCAGATTCACAC 0.463 32 182 --- --- --- --- PASS PGAM2 5224 broad.mit.edu 37 7 44102386 44102386 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:44102386C>T uc003tjs.2 - 3 774 c.739G>A c.(739-741)GCT>ACT p.A247T NM_000290 NP_000281 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 247 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity 0 CCCTGGGCAGCCACAGCCTCC 0.617 18 51 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44186117 44186117 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:44186117C>T uc003tkl.2 - 8 1434 c.964G>A c.(964-966)GAG>AAG p.E322K GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.E321K|GCK_uc003tkk.1_Missense_Mutation_p.E323K NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 322 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CGCAGCTGCTCGGAGGCCTCC 0.647 11 107 --- --- --- --- PASS TMED4 222068 broad.mit.edu 37 7 44621733 44621733 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:44621733T>C uc003tli.2 - 1 95 c.73A>G c.(73-75)ACA>GCA p.T25A TMED4_uc003tlj.2_5'UTR|TMED4_uc003tlk.2_Missense_Mutation_p.T25A|uc003tll.2_5'Flank NM_182547 NP_872353 Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain 25 positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity 0 TGGGCGCCTGTGGCGCACAGC 0.687 3 1 --- --- --- --- PASS C7orf42 55069 broad.mit.edu 37 7 66416110 66416110 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:66416110G>A uc003tvk.2 + 5 1032 c.768G>A c.(766-768)GTG>GTA p.V256V C7orf42_uc010lah.2_Intron|C7orf42_uc003tvl.2_Silent_p.V256V NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 256 Helical; (Potential). integral to membrane ovary(1) 1 AGCTTACAGTGATTGTTCCAG 0.328 25 129 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70885909 70885909 + Silent SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:70885909A>T uc003tvy.2 + 5 780 c.780A>T c.(778-780)CTA>CTT p.L260L WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 260 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGCCGGTTCTATCCCGCATCC 0.522 125 310 --- --- --- --- PASS DNAJC30 84277 broad.mit.edu 37 7 73097249 73097249 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:73097249G>C uc003tys.1 - 1 533 c.505C>G c.(505-507)CAG>GAG p.Q169E WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank NM_032317 NP_115693 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog subfamily C member 30 169 protein folding heat shock protein binding|unfolded protein binding 0 TAGTGGGCCTGGTAGAAGGCG 0.692 14 82 --- --- --- --- PASS TMEM60 85025 broad.mit.edu 37 7 77423415 77423415 + Silent SNP G C C rs145350174 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:77423415G>C uc003ugn.2 - 2 503 c.276C>G c.(274-276)CTC>CTG p.L92L NM_032936 NP_116325 Q9H2L4 TMM60_HUMAN transmembrane protein 60 92 Helical; (Potential). integral to membrane 0 CACAGAGTGCGAGGCAGAAGG 0.438 29 236 --- --- --- --- PASS TMEM60 85025 broad.mit.edu 37 7 77423646 77423646 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:77423646G>C uc003ugn.2 - 2 272 c.45C>G c.(43-45)TTC>TTG p.F15L NM_032936 NP_116325 Q9H2L4 TMM60_HUMAN transmembrane protein 60 15 Helical; (Potential). integral to membrane 0 AGAGTAGTGTGAAAAGCCAGG 0.403 5 116 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 78636448 78636448 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:78636448G>A uc003ugx.2 - 2 630 c.376C>T c.(376-378)CAG>TAG p.Q126* MAGI2_uc003ugy.2_Nonsense_Mutation_p.Q126* NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 126 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATGATTTGCTGAAGCTCATGG 0.373 23 215 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80378224 80378224 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:80378224C>A uc003uhj.2 - 17 2394 c.1832G>T c.(1831-1833)AGG>ATG p.R611M SEMA3C_uc011kgw.1_Missense_Mutation_p.R629M NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 611 Ig-like C2-type. immune response|response to drug membrane receptor activity ovary(1) 1 CTCTTTCCTCCTGTCTTTGTC 0.458 33 142 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86394595 86394595 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:86394595T>A uc003uid.2 + 2 1233 c.134T>A c.(133-135)TTT>TAT p.F45Y GRM3_uc010lef.2_Missense_Mutation_p.F43Y|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 45 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGGGGCCTGTTTCCTATTAAC 0.408 67 151 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87035754 87035754 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:87035754G>C uc003uiv.1 - 26 3433 c.3357C>G c.(3355-3357)CTC>CTG p.L1119L ABCB4_uc003uiw.1_Silent_p.L1112L|ABCB4_uc003uix.1_Silent_p.L1065L NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1119 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ACACGATTCCGAGTTGAGCTC 0.438 11 219 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87135326 87135326 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:87135326G>A uc003uiz.1 - 28 3941 c.3523C>T c.(3523-3525)CAG>TAG p.Q1175* ABCB1_uc011khc.1_Nonsense_Mutation_p.Q1111* NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 1175 Cytoplasmic (Potential).|ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCAGAGAGCTGAGTTCCTTTG 0.408 17 152 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87178835 87178835 + Splice_Site SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:87178835C>T uc003uiz.1 - 15 1973 c.1555_splice c.e15-1 p.K519_splice ABCB1_uc011khc.1_Splice_Site_p.K455_splice NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TGTCAAATTTCTACCACAGAA 0.483 21 157 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87778317 87778317 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:87778317G>C uc003ujn.2 + 18 1590 c.1511G>C c.(1510-1512)CGA>CCA p.R504P ADAM22_uc003ujk.1_Missense_Mutation_p.R504P|ADAM22_uc003ujl.1_Missense_Mutation_p.R504P|ADAM22_uc003ujm.2_Missense_Mutation_p.R504P|ADAM22_uc003ujo.2_Missense_Mutation_p.R504P|ADAM22_uc003ujp.1_Missense_Mutation_p.R556P NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 504 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ACTGTGTGCCGAGAAGCAGTA 0.348 10 56 --- --- --- --- PASS STEAP4 79689 broad.mit.edu 37 7 87912107 87912107 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:87912107C>G uc003ujs.2 - 3 938 c.833G>C c.(832-834)CGA>CCA p.R278P STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.R278P NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 278 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) GTCTGGGAATCGACGGTATTT 0.478 8 83 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965543 88965543 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:88965543A>G uc011khi.1 + 4 3785 c.3247A>G c.(3247-3249)ACT>GCT p.T1083A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1083 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAATAAATATACTGGTGTGAC 0.353 HNSCC(36;0.09) 49 105 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965729 88965729 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:88965729C>T uc011khi.1 + 4 3971 c.3433C>T c.(3433-3435)CAA>TAA p.Q1145* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1145 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCCTTTAATTCAACAGCCCAT 0.383 HNSCC(36;0.09) 23 159 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92120593 92120593 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:92120593G>C uc003uly.2 - 21 3527 c.3431C>G c.(3430-3432)TCT>TGT p.S1144C PEX1_uc011khr.1_Missense_Mutation_p.S936C|PEX1_uc010ley.2_Missense_Mutation_p.S1087C|PEX1_uc011khs.1_Missense_Mutation_p.S822C NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 1144 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TACCAAATCAGAAGAGGTTCC 0.383 21 164 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92760988 92760988 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:92760988G>A uc003umh.1 - 5 5513 c.4297C>T c.(4297-4299)CTG>TTG p.L1433L SAMD9L_uc003umj.1_Silent_p.L1433L|SAMD9L_uc003umi.1_Silent_p.L1433L|SAMD9L_uc010lfb.1_Silent_p.L1433L|SAMD9L_uc003umk.1_Silent_p.L1433L|SAMD9L_uc010lfc.1_Silent_p.L1433L|SAMD9L_uc010lfd.1_Silent_p.L1433L|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1433 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGCCAGAACAGGAGGCAGGCC 0.403 103 308 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92760989 92760989 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:92760989G>T uc003umh.1 - 5 5512 c.4296C>A c.(4294-4296)CTC>CTA p.L1432L SAMD9L_uc003umj.1_Silent_p.L1432L|SAMD9L_uc003umi.1_Silent_p.L1432L|SAMD9L_uc010lfb.1_Silent_p.L1432L|SAMD9L_uc003umk.1_Silent_p.L1432L|SAMD9L_uc010lfc.1_Silent_p.L1432L|SAMD9L_uc010lfd.1_Silent_p.L1432L|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1432 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCCAGAACAGGAGGCAGGCCA 0.403 102 309 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92761651 92761651 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:92761651G>A uc003umh.1 - 5 4850 c.3634C>T c.(3634-3636)CAG>TAG p.Q1212* SAMD9L_uc003umj.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Q1212*|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1212 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGAGTGAGCTGAAGAATCTGG 0.393 121 306 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92762173 92762173 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:92762173G>C uc003umh.1 - 5 4328 c.3112C>G c.(3112-3114)CTT>GTT p.L1038V SAMD9L_uc003umj.1_Missense_Mutation_p.L1038V|SAMD9L_uc003umi.1_Missense_Mutation_p.L1038V|SAMD9L_uc010lfb.1_Missense_Mutation_p.L1038V|SAMD9L_uc003umk.1_Missense_Mutation_p.L1038V|SAMD9L_uc010lfc.1_Missense_Mutation_p.L1038V|SAMD9L_uc010lfd.1_Missense_Mutation_p.L1038V|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1038 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GTAAGCAGAAGAGTTTGAACA 0.338 71 212 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98508016 98508016 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:98508016G>A uc003upp.2 + 15 1897 c.1688G>A c.(1687-1689)GGC>GAC p.G563D TRRAP_uc011kis.1_Missense_Mutation_p.G563D|TRRAP_uc003upr.2_Missense_Mutation_p.G255D NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 563 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) ATCACGTGGGGCATAACATCA 0.393 44 265 --- --- --- --- PASS PTCD1 26024 broad.mit.edu 37 7 99022723 99022723 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:99022723T>C uc003uqh.2 - 6 1563 c.1432A>G c.(1432-1434)ATG>GTG p.M478V PTCD1_uc011kiw.1_Missense_Mutation_p.M527V NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 478 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TGCTCTGCCATCTTGCTCAGG 0.662 22 102 --- --- --- --- PASS ZNF394 84124 broad.mit.edu 37 7 99091386 99091386 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:99091386G>C uc003uqs.2 - 3 1613 c.1452C>G c.(1450-1452)CTC>CTG p.L484L ZNF394_uc003uqt.2_Silent_p.L277L NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 484 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGTGTTTAAAGAGGTCAGAGC 0.448 11 251 --- --- --- --- PASS CYP3A7 1551 broad.mit.edu 37 7 99306722 99306722 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:99306722G>C uc003uru.2 - 11 1294 c.1189C>G c.(1189-1191)CCA>GCA p.P397A ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 397 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) ACATAGCTTGGAATCATCACC 0.483 28 205 --- --- --- --- PASS CYP3A43 64816 broad.mit.edu 37 7 99445849 99445849 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:99445849G>C uc003urx.1 + 6 596 c.493G>C c.(493-495)GAG>CAG p.E165Q CYP3A43_uc003ury.1_Missense_Mutation_p.E165Q|CYP3A43_uc003urz.1_Missense_Mutation_p.E165Q|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.R27T NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 165 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GCAGGAAGCAGAGAACAGCAA 0.493 6 64 --- --- --- --- PASS MOSPD3 64598 broad.mit.edu 37 7 100211221 100211221 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:100211221C>T uc003uvq.2 + 4 605 c.403C>T c.(403-405)CTG>TTG p.L135L MOSPD3_uc003uvr.2_Silent_p.L135L|MOSPD3_uc003uvs.2_Silent_p.L135L|MOSPD3_uc003uvt.2_Silent_p.L125L NM_001040097 NP_001035186 O75425 MSPD3_HUMAN motile sperm domain containing 3 isoform a 135 MSP. integral to membrane structural molecule activity ovary(2) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TACCTCCATTCTGAGAGCCCC 0.622 15 123 --- --- --- --- PASS EPHB4 2050 broad.mit.edu 37 7 100421299 100421299 + Silent SNP G A A rs145080354 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:100421299G>A uc003uwn.1 - 3 869 c.378C>T c.(376-378)CTC>CTT p.L126L EPHB4_uc003uwm.1_Silent_p.L33L|EPHB4_uc010lhj.1_Silent_p.L126L|EPHB4_uc011kkf.1_Silent_p.L126L|EPHB4_uc011kkg.1_Silent_p.L126L|EPHB4_uc011kkh.1_Silent_p.L126L NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 126 Extracellular (Potential). cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) AGGCTGGCGTGAGGGCCGTGG 0.657 10 89 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100459086 100459086 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:100459086C>G uc003uwp.2 + 11 1558 c.1416C>G c.(1414-1416)CTC>CTG p.L472L SLC12A9_uc003uwq.2_Silent_p.L383L|SLC12A9_uc011kki.1_Silent_p.L3L|SLC12A9_uc003uwr.2_Silent_p.L208L|SLC12A9_uc003uws.2_Silent_p.L3L|SLC12A9_uc003uwt.2_Silent_p.L208L|SLC12A9_uc003uwv.2_Silent_p.L3L NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 472 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TGATGTTCCTCATCAGTCCTG 0.677 18 187 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100684352 100684352 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:100684352G>A uc003uxp.1 + 3 9708 c.9655G>A c.(9655-9657)GAA>AAA p.E3219K MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3219 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTAGTGAAGGAATGAC 0.498 73 509 --- --- --- --- PASS PLOD3 8985 broad.mit.edu 37 7 100852175 100852175 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:100852175C>G uc003uyd.2 - 16 2203 c.1747G>C c.(1747-1749)GAG>CAG p.E583Q PLOD3_uc010lhs.2_Missense_Mutation_p.E148Q NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 583 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) TGCTCCATCTCTGCCACCAGC 0.627 12 105 --- --- --- --- PASS NAMPT 10135 broad.mit.edu 37 7 105913032 105913032 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:105913032G>C uc003vdq.2 - 4 699 c.391C>G c.(391-393)CTC>GTC p.L131V NAMPT_uc003vdr.1_Missense_Mutation_p.L131V|NAMPT_uc011klu.1_Missense_Mutation_p.L44V NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 131 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 ACCGTGAAGAGAACATTTCCT 0.333 26 154 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508159 106508159 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:106508159C>G uc003vdv.3 + 2 238 c.153C>G c.(151-153)TGC>TGG p.C51W PIK3CG_uc003vdu.2_Missense_Mutation_p.C51W|PIK3CG_uc003vdw.2_Missense_Mutation_p.C51W NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 51 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 AGCGCAAATGCAAGAGCCCCG 0.682 19 62 --- --- --- --- PASS BCAP29 55973 broad.mit.edu 37 7 107240935 107240935 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:107240935A>T uc003vej.2 + 6 913 c.574A>T c.(574-576)AGG>TGG p.R192W BCAP29_uc011kly.1_Missense_Mutation_p.R98W|BCAP29_uc011klz.1_Missense_Mutation_p.R192W|BCAP29_uc011kma.1_Missense_Mutation_p.R192W NM_018844 NP_061332 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein BAP29 isoform 192 Cytoplasmic (Potential). apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane large_intestine(1)|ovary(1) 2 AACTGAATTAAGGAAGACTTC 0.318 30 61 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107314718 107314718 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:107314718G>C uc003vep.2 + 5 749 c.525G>C c.(523-525)ATG>ATC p.M175I NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 175 Extracellular (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 ATACTACTATGATAGACACTG 0.433 Pendred_syndrome 8 188 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107849976 107849976 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:107849976C>T uc003vfb.2 - 12 1435 c.964G>A c.(964-966)GAG>AAG p.E322K NRCAM_uc003vfc.2_Missense_Mutation_p.E316K|NRCAM_uc011kmk.1_Missense_Mutation_p.E317K|NRCAM_uc003vfd.2_Missense_Mutation_p.E298K|NRCAM_uc003vfe.2_Missense_Mutation_p.E298K NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 322 Ig-like 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AAGGTTTTCTCAAAGTTCTTA 0.373 16 241 --- --- --- --- PASS C7orf66 154907 broad.mit.edu 37 7 108524189 108524189 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:108524189C>G uc003vfo.2 - 2 271 c.223G>C c.(223-225)GAT>CAT p.D75H NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 75 integral to membrane ovary(2) 2 TATCTCTGATCCATCATGTGA 0.413 28 248 --- --- --- --- PASS TMEM168 64418 broad.mit.edu 37 7 112415351 112415351 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:112415351C>T uc003vgn.2 - 3 1543 c.1151G>A c.(1150-1152)AGC>AAC p.S384N TMEM168_uc010lju.2_Missense_Mutation_p.S384N|TMEM168_uc011kmr.1_5'UTR NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 384 Helical; (Potential). integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 TAGAAACATGCTCAAGAAAAT 0.358 12 77 --- --- --- --- PASS C7orf60 154743 broad.mit.edu 37 7 112461888 112461888 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:112461888C>G uc003vgo.1 - 5 1256 c.1129G>C c.(1129-1131)GAT>CAT p.D377H C7orf60_uc011kms.1_Missense_Mutation_p.D403H NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 377 ovary(2)|skin(1) 3 TATGGCGCATCAGGGAgttct 0.308 30 166 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116397818 116397818 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:116397818A>T uc003vij.2 + 8 2279 c.2092A>T c.(2092-2094)ACT>TCT p.T698S MET_uc010lkh.2_Missense_Mutation_p.T698S|MET_uc011kne.1_Missense_Mutation_p.T670S|MET_uc011knf.1_Missense_Mutation_p.T698S|MET_uc011kng.1_Missense_Mutation_p.T698S|MET_uc011knh.1_Missense_Mutation_p.T698S|MET_uc011kni.1_Missense_Mutation_p.T698S|MET_uc011knj.1_Missense_Mutation_p.T268S NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 698 Extracellular (Potential).|IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AAAAACATGTACTTTAAAAAG 0.323 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 51 171 --- --- --- --- PASS ANKRD7 56311 broad.mit.edu 37 7 117864918 117864918 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:117864918A>T uc003vji.2 + 1 207 c.34A>T c.(34-36)AAT>TAT p.N12Y NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 12 male gonad development 0 GAAGAGGAAGAATGAGACCCG 0.507 9 109 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915141 119915141 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:119915141C>A uc003vjj.1 + 1 1420 c.455C>A c.(454-456)GCG>GAG p.A152E NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 152 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CAGGACGACGCGGATACCGAC 0.632 47 122 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121653533 121653533 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:121653533C>T uc003vjy.2 + 12 4828 c.4433C>T c.(4432-4434)TCT>TTT p.S1478F PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1478 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TACTCACTATCTGAGAATTCT 0.393 19 116 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122261611 122261611 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:122261611G>C uc010lkp.2 - 5 1191 c.1028C>G c.(1027-1029)TCT>TGT p.S343C CADPS2_uc003vkg.3_Missense_Mutation_p.S43C|CADPS2_uc010lkq.2_Missense_Mutation_p.S343C NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 343 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CAAAAATGCAGAGTTCTGTGA 0.398 25 221 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122261629 122261629 + Nonsense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:122261629A>C uc010lkp.2 - 5 1173 c.1010T>G c.(1009-1011)TTA>TGA p.L337* CADPS2_uc003vkg.3_Nonsense_Mutation_p.L37*|CADPS2_uc010lkq.2_Nonsense_Mutation_p.L337* NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 337 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TGAACGTTTTAATTTTTGTAA 0.388 17 207 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126410082 126410082 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:126410082C>A uc003vlr.2 - 6 1505 c.1194G>T c.(1192-1194)CAG>CAT p.Q398H GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Q398H|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.Q119H NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 398 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) CCTTTCCTTCCTGTTCATAAG 0.403 HNSCC(24;0.065) 27 65 --- --- --- --- PASS GCC1 79571 broad.mit.edu 37 7 127222843 127222843 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:127222843T>A uc003vma.2 - 2 1971 c.1553A>T c.(1552-1554)GAG>GTG p.E518V NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 518 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 CTGGGCTGCCTCCAGCTCCTT 0.527 28 189 --- --- --- --- PASS CALD1 800 broad.mit.edu 37 7 134643009 134643009 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:134643009A>C uc003vrz.2 + 11 2488 c.2029A>C c.(2029-2031)AGC>CGC p.S677R CALD1_uc003vry.2_Missense_Mutation_p.S422R|CALD1_uc003vsa.2_Missense_Mutation_p.S448R|CALD1_uc003vsb.2_Missense_Mutation_p.S422R|CALD1_uc010lmm.2_Missense_Mutation_p.S447R|CALD1_uc011kpt.1_Missense_Mutation_p.S196R|CALD1_uc003vsc.2_Missense_Mutation_p.S442R|CALD1_uc003vsd.2_Missense_Mutation_p.S416R|CALD1_uc011kpu.1_Missense_Mutation_p.S427R|CALD1_uc011kpv.1_Missense_Mutation_p.S286R|CALD1_uc003vse.2_Missense_Mutation_p.S540R|CALD1_uc010lmn.2_5'Flank NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 677 Strong actin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 CAAGATTGACAGCAGACTGGA 0.393 46 243 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135291576 135291576 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:135291576C>G uc003vsw.2 + 21 3014 c.2983C>G c.(2983-2985)CTG>GTG p.L995V NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 995 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CATTACCTCTCTGGAATGCAA 0.378 37 255 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135304536 135304536 + Splice_Site SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:135304536A>C uc003vsw.2 + 30 4263 c.4232_splice c.e30-2 p.G1411_splice NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TAATCTCCCTAGGTGGTGGAT 0.358 99 652 --- --- --- --- PASS ZC3HAV1 56829 broad.mit.edu 37 7 138764635 138764635 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:138764635G>A uc003vun.2 - 4 1440 c.1052C>T c.(1051-1053)TCC>TTC p.S351F ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.S351F NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 351 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TGTTGAATTGGAAGCAAGGTA 0.542 27 194 --- --- --- --- PASS UBN2 254048 broad.mit.edu 37 7 138968151 138968151 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:138968151G>T uc011kqr.1 + 15 2500 c.2500G>T c.(2500-2502)GCT>TCT p.A834S NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 834 ovary(1)|skin(1) 2 AAGTCTTATTGCTGGTCACAC 0.423 25 156 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141752640 141752640 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:141752640C>T uc003vwy.2 + 26 3069 c.3015C>T c.(3013-3015)GTC>GTT p.V1005V NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1005 Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TATACTCTGTCAGTGATGTTC 0.473 8 322 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142606708 142606708 + Missense_Mutation SNP G A A rs148001669 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:142606708G>A uc003wby.1 - 14 2107 c.1843C>T c.(1843-1845)CGC>TGC p.R615C NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 615 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ATCCCGGAGCGAGGCCACAGG 0.592 24 86 --- --- --- --- PASS TPK1 27010 broad.mit.edu 37 7 144380014 144380014 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:144380014C>A uc003weq.2 - 4 276 c.173G>T c.(172-174)GGA>GTA p.G58V TPK1_uc003weo.2_Nonsense_Mutation_p.E13*|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.G58V|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 58 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) TTCTCTCTCTCCTTCGGTGAT 0.378 52 367 --- --- --- --- PASS ZNF786 136051 broad.mit.edu 37 7 148769427 148769427 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:148769427G>C uc003wfh.2 - 4 574 c.437C>G c.(436-438)GCC>GGC p.A146G ZNF786_uc011kuk.1_Missense_Mutation_p.A109G|ZNF786_uc003wfi.2_Missense_Mutation_p.A60G NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AGGAGCCCTGGCGTCGTGTCT 0.542 7 17 --- --- --- --- PASS ATP6V0E2 155066 broad.mit.edu 37 7 149572732 149572732 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:149572732C>G uc003wgr.2 + 2 1248 c.297C>G c.(295-297)CTC>CTG p.L99L LOC401431_uc003wgn.3_5'Flank|LOC401431_uc011kur.1_5'Flank|ATP6V0E2_uc003wgo.1_RNA|ATP6V0E2_uc003wgs.2_Silent_p.L99L|ATP6V0E2_uc003wgp.2_Silent_p.L99L|ATP6V0E2_uc003wgq.2_RNA NM_145230 NP_660265 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting, V0 subunit isoform 1 50 Helical; (Potential). ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00256) GCTGTTACCTCTTGTAAGTAC 0.547 8 221 --- --- --- --- PASS SLC4A2 6522 broad.mit.edu 37 7 150767389 150767389 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:150767389C>G uc003wit.3 + 10 1661 c.1405C>G c.(1405-1407)CTC>GTC p.L469V SLC4A2_uc011kve.1_Missense_Mutation_p.L460V|SLC4A2_uc003wiu.3_Missense_Mutation_p.L455V|SLC4A2_uc003wiv.3_5'Flank NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 469 Cytoplasmic (Potential). LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACCGAGCCTCTCATGGGAGG 0.672 14 75 --- --- --- --- PASS GBX1 2636 broad.mit.edu 37 7 150846114 150846114 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:150846114G>T uc011kvg.1 - 2 886 c.654C>A c.(652-654)TTC>TTA p.F218L NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 218 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AACTGTCCAGGAAACCGTCAT 0.622 101 640 --- --- --- --- PASS PRKAG2 51422 broad.mit.edu 37 7 151269752 151269752 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:151269752C>A uc003wkk.2 - 9 1660 c.1049G>T c.(1048-1050)AGG>ATG p.R350M PRKAG2_uc003wki.2_Missense_Mutation_p.R109M|PRKAG2_uc011kvl.1_Missense_Mutation_p.R225M|PRKAG2_uc003wkj.2_Missense_Mutation_p.R306M|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_RNA NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 350 R -> RL (in CMH-WPWS; severe). ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GTGCTTACCCCTCCATGTTTC 0.269 18 110 --- --- --- --- PASS PRKAG2 51422 broad.mit.edu 37 7 151292541 151292541 + Splice_Site SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:151292541C>G uc003wkk.2 - 6 1366 c.755_splice c.e6-1 p.A252_splice PRKAG2_uc003wki.2_Splice_Site_p.A11_splice|PRKAG2_uc011kvl.1_Intron|PRKAG2_uc003wkj.2_Splice_Site_p.A208_splice|PRKAG2_uc003wkl.2_5'Flank|PRKAG2_uc010lqe.1_Splice_Site NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) TCTTCTACTGCTAAAAGAAAA 0.224 19 92 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151946970 151946970 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:151946970G>C uc003wla.2 - 13 2023 c.1804C>G c.(1804-1806)CTT>GTT p.L602V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 602 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCAGCAATAAGAAGACTATCT 0.358 N medulloblastoma 33 107 --- --- --- --- PASS XRCC2 7516 broad.mit.edu 37 7 152345752 152345752 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr7:152345752C>G uc003wld.2 - 3 904 c.818G>C c.(817-819)GGA>GCA p.G273A NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 273 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) CCCACTTTCTCCAATAATAAA 0.254 Homologous_recombination 25 104 --- --- --- --- PASS MCPH1 79648 broad.mit.edu 37 8 6302244 6302244 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:6302244C>T uc003wqi.2 + 8 1069 c.1001C>T c.(1000-1002)CCT>CTT p.P334L MCPH1_uc003wqh.2_Missense_Mutation_p.P334L|MCPH1_uc011kwl.1_Missense_Mutation_p.P286L NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 334 microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CGTTTGTCTCCTACCTTATCT 0.438 11 42 --- --- --- --- PASS LONRF1 91694 broad.mit.edu 37 8 12583331 12583331 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:12583331G>A uc003wwd.1 - 11 2131 c.2068C>T c.(2068-2070)CAA>TAA p.Q690* LONRF1_uc011kxv.1_Nonsense_Mutation_p.Q279*|LONRF1_uc010lsp.1_Nonsense_Mutation_p.Q290* NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 690 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) CTGCAGGCTTGAGAGTAAACC 0.413 23 95 --- --- --- --- PASS TUSC3 7991 broad.mit.edu 37 8 15531304 15531304 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:15531304G>A uc003wwt.2 + 6 967 c.757G>A c.(757-759)GGA>AGA p.G253R TUSC3_uc003wwr.2_Missense_Mutation_p.G253R|TUSC3_uc003wws.2_Missense_Mutation_p.G253R|TUSC3_uc003wwu.2_Missense_Mutation_p.G253R|TUSC3_uc003wwv.2_Missense_Mutation_p.G253R|TUSC3_uc003www.2_Missense_Mutation_p.G253R|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.G253R NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 253 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) CCATATCCGTGGACCTCCATA 0.373 30 135 --- --- --- --- PASS PSD3 23362 broad.mit.edu 37 8 18662066 18662066 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:18662066C>G uc003wza.2 - 6 1979 c.1876G>C c.(1876-1878)GAT>CAT p.D626H PSD3_uc003wyy.2_Missense_Mutation_p.D92H|PSD3_uc003wyz.2_5'UTR NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 626 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CCTGTAAAATCAAAAAACTTC 0.343 24 83 --- --- --- --- PASS LGI3 203190 broad.mit.edu 37 8 22006032 22006032 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:22006032G>C uc003xav.2 - 8 1577 c.1288C>G c.(1288-1290)CGT>GGT p.R430G LGI3_uc010ltu.2_Missense_Mutation_p.R406G NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 430 EAR 5. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CGGCCGGCACGAAAGTGTTTC 0.632 5 15 --- --- --- --- PASS POLR3D 661 broad.mit.edu 37 8 22105711 22105711 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:22105711C>G uc003xbl.2 + 5 489 c.406C>G c.(406-408)CAT>GAT p.H136D POLR3D_uc003xbm.2_Missense_Mutation_p.H136D|POLR3D_uc011kze.1_Intron NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 136 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GGGACCTTCTCATATCATCAA 0.483 24 125 --- --- --- --- PASS SLC39A14 23516 broad.mit.edu 37 8 22272336 22272336 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:22272336C>G uc003xbq.3 + 5 846 c.671C>G c.(670-672)TCT>TGT p.S224C SLC39A14_uc011kzg.1_Missense_Mutation_p.S224C|SLC39A14_uc003xbp.3_Missense_Mutation_p.S224C|SLC39A14_uc011kzh.1_Missense_Mutation_p.S224C NM_001128431 NP_001121903 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), 224 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity 0 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GTCTCCAAGTCTGCAGTGGTG 0.383 17 236 --- --- --- --- PASS EBF2 64641 broad.mit.edu 37 8 25899692 25899692 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:25899692G>A uc003xes.1 - 2 224 c.207C>T c.(205-207)TTC>TTT p.F69F PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.F69F NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 69 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCGCCAGGACGAAGTGAAAGA 0.577 23 61 --- --- --- --- PASS EPHX2 2053 broad.mit.edu 37 8 27361127 27361127 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:27361127C>A uc003xfu.2 + 3 274 c.193C>A c.(193-195)CCA>ACA p.P65T EPHX2_uc010lut.1_Missense_Mutation_p.P65T|EPHX2_uc010luu.2_Missense_Mutation_p.P65T|EPHX2_uc010luv.2_5'UTR|EPHX2_uc003xfv.2_Missense_Mutation_p.P12T|EPHX2_uc010luw.2_5'UTR|EPHX2_uc011lam.1_5'Flank NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 65 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) ACAGTGGATACCACTCATGGA 0.303 4 24 --- --- --- --- PASS FUT10 84750 broad.mit.edu 37 8 33246663 33246663 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:33246663C>G uc003xje.2 - 4 1386 c.1030G>C c.(1030-1032)GAC>CAC p.D344H FUT10_uc003xjc.2_Missense_Mutation_p.D351H|FUT10_uc003xjd.2_Missense_Mutation_p.D316H|FUT10_uc011lbi.1_Missense_Mutation_p.D394H|FUT10_uc003xjf.2_Missense_Mutation_p.D282H|FUT10_uc003xjg.2_Missense_Mutation_p.D316H|FUT10_uc003xjh.2_Missense_Mutation_p.D344H NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 344 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TACAATCTGTCATCAGAATCC 0.463 28 99 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38187168 38187168 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:38187168C>G uc003xli.2 - 6 1827 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q WHSC1L1_uc011lbm.1_Missense_Mutation_p.E437Q|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E437Q|WHSC1L1_uc003xlj.2_Missense_Mutation_p.E437Q NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 437 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GAGGCCACCTCCCCTGCATTG 0.502 T NUP98 AML 18 169 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41591515 41591515 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:41591515C>G uc003xok.2 - 3 286 c.202G>C c.(202-204)GAA>CAA p.E68Q NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E68Q|ANK1_uc003xoj.2_Missense_Mutation_p.E68Q|ANK1_uc003xol.2_Missense_Mutation_p.E68Q|ANK1_uc003xom.2_Missense_Mutation_p.E101Q NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 68 ANK 1.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AGAATGATTTCTTTGTGCAGA 0.463 10 192 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41834549 41834549 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:41834549G>C uc010lxb.2 - 8 1884 c.1340C>G c.(1339-1341)TCA>TGA p.S447* MYST3_uc010lxc.2_Nonsense_Mutation_p.S447*|MYST3_uc003xon.3_Nonsense_Mutation_p.S447*|MYST3_uc010lxd.2_Nonsense_Mutation_p.S447* NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 447 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGAAGTGCTTGATTTCCTGTT 0.418 18 111 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41834802 41834802 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:41834802C>A uc010lxb.2 - 8 1631 c.1087G>T c.(1087-1089)GGT>TGT p.G363C MYST3_uc010lxc.2_Missense_Mutation_p.G363C|MYST3_uc003xon.3_Missense_Mutation_p.G363C|MYST3_uc010lxd.2_Missense_Mutation_p.G363C NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 363 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) CGTTTCCTACCCCTTCCAGGG 0.413 28 112 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41838388 41838388 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:41838388G>C uc010lxb.2 - 6 1427 c.883C>G c.(883-885)CCG>GCG p.P295A MYST3_uc010lxc.2_Missense_Mutation_p.P295A|MYST3_uc003xon.3_Missense_Mutation_p.P295A|MYST3_uc010lxd.2_Missense_Mutation_p.P295A NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 295 PHD-type 2. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GTGAGTGGCGGATCACAACAC 0.368 53 223 --- --- --- --- PASS SNAI2 6591 broad.mit.edu 37 8 49832466 49832466 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:49832466C>T uc003xqp.2 - 2 778 c.614G>A c.(613-615)AGA>AAA p.R205K NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 205 C2H2-type 3. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CGTGTGAGTTCTAATGTGTCC 0.483 26 110 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541287 55541287 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:55541287C>A uc003xsd.1 + 4 4993 c.4845C>A c.(4843-4845)GGC>GGA p.G1615G RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1615 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATGACAGTGGCGAACTTACCC 0.398 27 115 --- --- --- --- PASS TMEM68 137695 broad.mit.edu 37 8 56663694 56663694 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:56663694C>A uc003xsg.1 - 3 585 c.516G>T c.(514-516)GTG>GTT p.V172V TMEM68_uc003xsh.1_Silent_p.V172V NM_152417 NP_689630 Q96MH6 TMM68_HUMAN transmembrane protein 68 172 integral to membrane acyltransferase activity skin(1) 1 Epithelial(17;0.000361)|all cancers(17;0.00326) GAGCACAAAACACATCCAGTA 0.353 14 114 --- --- --- --- PASS MOS 4342 broad.mit.edu 37 8 57025860 57025860 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:57025860C>G uc011leb.1 - 1 682 c.682G>C c.(682-684)GAT>CAT p.D228H NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 228 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) CACAGCAGATCTTCCAACTTC 0.542 21 72 --- --- --- --- PASS MOS 4342 broad.mit.edu 37 8 57025872 57025872 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:57025872C>G uc011leb.1 - 1 670 c.670G>C c.(670-672)GAG>CAG p.E224Q NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 224 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) TCCAACTTCTCAGAGCAACCG 0.542 12 75 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68151048 68151048 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:68151048C>G uc003xxo.1 - 21 3450 c.3060G>C c.(3058-3060)CAG>CAC p.Q1020H ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q474H|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Q3H NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1020 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CAATGTTCTTCTGTTTCATTT 0.353 23 98 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70591617 70591617 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:70591617G>T uc003xyl.2 - 8 2727 c.2020C>A c.(2020-2022)CTC>ATC p.L674I SLCO5A1_uc010lzb.2_Missense_Mutation_p.L619I|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.L674I NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 674 Helical; Name=10; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCTCACCTGAGTGTTACTATG 0.423 38 177 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70744042 70744042 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:70744042T>C uc003xyl.2 - 2 1574 c.867A>G c.(865-867)TTA>TTG p.L289L SLCO5A1_uc010lzb.2_Silent_p.L289L|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.L289L|SLCO5A1_uc010lzc.2_Silent_p.L289L NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 289 Helical; Name=4; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CATTGTCATCTAAGTAGGTTG 0.418 32 131 --- --- --- --- PASS C8orf84 157869 broad.mit.edu 37 8 73979610 73979610 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:73979610G>C uc003xzf.2 - 5 966 c.761C>G c.(760-762)TCT>TGT p.S254C NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 254 immune response extracellular region polysaccharide binding|scavenger receptor activity 0 AGCTGGACAAGAACACTGGTC 0.353 51 105 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87616376 87616376 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:87616376C>G uc003ydx.2 - 15 1772 c.1726G>C c.(1726-1728)GAT>CAT p.D576H CNGB3_uc010maj.2_Missense_Mutation_p.D438H NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 576 Cytoplasmic (Potential).|cGMP (By similarity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TTAGTACCATCAGGGCCTCCA 0.373 27 99 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87656908 87656908 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:87656908A>T uc003ydx.2 - 9 1043 c.997T>A c.(997-999)TCA>ACA p.S333T CNGB3_uc010maj.2_Missense_Mutation_p.S195T NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 333 Extracellular (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TCAAAAAATGAAGTGTACTAT 0.249 19 96 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 92982954 92982954 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:92982954C>T uc003yfd.2 - 10 1555 c.1471G>A c.(1471-1473)GCC>ACC p.A491T RUNX1T1_uc003yfc.1_Missense_Mutation_p.A464T|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A454T|RUNX1T1_uc010mao.2_Missense_Mutation_p.A464T|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A502T|RUNX1T1_uc010man.1_Missense_Mutation_p.A116T|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A454T NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 491 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTGGCCTCGGCGACCGTGCGC 0.602 21 35 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95503956 95503956 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:95503956C>G uc003ygo.1 - 22 5003 c.4990G>C c.(4990-4992)GAA>CAA p.E1664Q KIAA1429_uc010maz.1_Intron NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1664 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GGAACCACTTCTTTACTTTCA 0.443 36 206 --- --- --- --- PASS C8orf37 157657 broad.mit.edu 37 8 96275974 96275974 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:96275974C>G uc003yho.1 - 2 204 c.184G>C c.(184-186)GAT>CAT p.D62H NM_177965 NP_808880 Q96NL8 CH037_HUMAN hypothetical protein LOC157657 62 0 Breast(36;3.41e-05) CTGTCAAGATCATCTTCTTTT 0.318 15 99 --- --- --- --- PASS GDF6 392255 broad.mit.edu 37 8 97172861 97172861 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:97172861C>T uc003yhp.2 - 1 160 c.60G>A c.(58-60)TTG>TTA p.L20L NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 20 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GGAAACCGGGCAAATCCCACA 0.637 39 66 --- --- --- --- PASS PTDSS1 9791 broad.mit.edu 37 8 97316271 97316271 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:97316271C>T uc003yht.1 + 7 858 c.756C>T c.(754-756)GAC>GAT p.D252D PTDSS1_uc003yhu.1_Silent_p.D106D NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 252 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CTTACAGGGACATTCATACCA 0.433 42 271 --- --- --- --- PASS TSPYL5 85453 broad.mit.edu 37 8 98290039 98290039 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:98290039G>T uc003yhy.2 - 1 138 c.34C>A c.(34-36)CGC>AGC p.R12S NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 12 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding p.R12H(1) large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) TTTTTGGCGCGGGAGGACTTT 0.692 4 12 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100568706 100568706 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:100568706G>T uc003yiv.2 + 31 4960 c.4849G>T c.(4849-4851)GAT>TAT p.D1617Y VPS13B_uc003yiw.2_Missense_Mutation_p.D1592Y NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1617 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AATTCTTCGAGATCCTGGATC 0.358 13 67 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100865863 100865863 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:100865863G>C uc003yiv.2 + 56 10432 c.10321G>C c.(10321-10323)GAA>CAA p.E3441Q VPS13B_uc003yiw.2_Missense_Mutation_p.E3416Q NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3441 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGCGTTGTTTGAACTTTACTG 0.522 18 88 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 100999760 100999760 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:100999760G>C uc003yjb.1 - 21 3301 c.3106C>G c.(3106-3108)CAA>GAA p.Q1036E RGS22_uc003yja.1_Missense_Mutation_p.Q855E|RGS22_uc003yjc.1_Missense_Mutation_p.Q1024E NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1036 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACAAAACGTTGAAATTGTCTT 0.358 3 113 --- --- --- --- PASS DPYS 1807 broad.mit.edu 37 8 105436529 105436529 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:105436529C>G uc003yly.3 - 7 1310 c.1181G>C c.(1180-1182)AGA>ACA p.R394T NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 394 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TACAGCTATTCTTCCTTTTCT 0.378 7 233 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106431476 106431476 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:106431476G>T uc003ymd.2 + 2 168 c.145G>T c.(145-147)GAA>TAA p.E49* NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 49 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTTTTCCACAGAATTTGGGCC 0.398 24 119 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110413772 110413772 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:110413772G>T uc003yne.2 + 14 1432 c.1328G>T c.(1327-1329)AGT>ATT p.S443I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 443 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) TATTTTTCCAGTCCAACACAA 0.348 HNSCC(38;0.096) 23 57 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113314138 113314138 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:113314138G>C uc003ynu.2 - 53 8483 c.8324C>G c.(8323-8325)ACT>AGT p.T2775S CSMD3_uc003yns.2_Missense_Mutation_p.T1977S|CSMD3_uc003ynt.2_Missense_Mutation_p.T2735S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2606S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2775 Extracellular (Potential).|Sushi 17. 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 GCCATATGAAGTTTGAGTTCC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 102 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113668386 113668386 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:113668386C>T uc003ynu.2 - 18 3160 c.3001G>A c.(3001-3003)GAA>AAA p.E1001K CSMD3_uc003yns.2_Missense_Mutation_p.E273K|CSMD3_uc003ynt.2_Missense_Mutation_p.E961K|CSMD3_uc011lhx.1_Missense_Mutation_p.E897K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1001 Extracellular (Potential).|CUB 5. 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 TACTTACTTTCATAATGAATC 0.294 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 100 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120594819 120594819 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:120594819G>C uc003yot.1 - 18 1653 c.1567C>G c.(1567-1569)CCT>GCT p.P523A ENPP2_uc011lic.1_Missense_Mutation_p.P40A|ENPP2_uc003yor.1_Missense_Mutation_p.P162A|ENPP2_uc003yos.1_Missense_Mutation_p.P575A|ENPP2_uc010mdd.1_Missense_Mutation_p.P523A NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 523 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCATTATTAGGAGCTGGCTTC 0.413 41 359 --- --- --- --- PASS FAM83A 84985 broad.mit.edu 37 8 124206350 124206350 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:124206350C>T uc003ypv.2 + 4 2749 c.735C>T c.(733-735)ATC>ATT p.I245I FAM83A_uc003ypw.2_Silent_p.I245I|FAM83A_uc003ypy.2_Silent_p.I189I|FAM83A_uc003ypx.2_Silent_p.I245I|FAM83A_uc003ypz.2_Silent_p.I245I NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 245 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGAAGTTCATCATCTCGGACT 0.498 15 138 --- --- --- --- PASS C8orf76 84933 broad.mit.edu 37 8 124253535 124253535 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:124253535C>G uc003yqc.1 - 1 83 c.52G>C c.(52-54)GAG>CAG p.E18Q C8orf76_uc003yqd.2_Intron NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 18 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GGCCTCTCCTCGAACACCGAG 0.672 4 22 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124349909 124349909 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:124349909C>G uc003yqh.3 - 21 3115 c.3007G>C c.(3007-3009)GAC>CAC p.D1003H ATAD2_uc011lii.1_Missense_Mutation_p.D794H|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1003 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) AATCGCTTGTCAATAGCAAGC 0.373 14 171 --- --- --- --- PASS ANXA13 312 broad.mit.edu 37 8 124707798 124707798 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:124707798C>G uc003yqu.2 - 6 488 c.415G>C c.(415-417)GAT>CAT p.D139H ANXA13_uc003yqt.2_Missense_Mutation_p.D180H NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a 139 Annexin 2. cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) CCTTTGACATCTGATTCGAGG 0.388 51 455 --- --- --- --- PASS SQLE 6713 broad.mit.edu 37 8 126011914 126011914 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:126011914A>C uc011liq.1 + 1 1195 c.269A>C c.(268-270)AAG>ACG p.K90T NM_003129 NP_003120 Q14534 ERG1_HUMAN squalene epoxidase 90 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity ovary(1)|breast(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TCAGAAAATAAGGAGCAGCTC 0.483 4 49 --- --- --- --- PASS MYC 4609 broad.mit.edu 37 8 128752800 128752800 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:128752800C>G uc003ysi.2 + 3 1486 c.961C>G c.(961-963)CAG>GAG p.Q321E NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 306 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) CTCCACACATCAGCACAACTA 0.562 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL 8 72 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133806669 133806669 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:133806669A>G uc003ytt.2 + 3 422 c.97A>G c.(97-99)ATT>GTT p.I33V PHF20L1_uc003ytr.2_Missense_Mutation_p.I33V|PHF20L1_uc010mdv.2_Missense_Mutation_p.I33V|PHF20L1_uc003yts.2_Missense_Mutation_p.I33V|PHF20L1_uc011lja.1_Missense_Mutation_p.I33V|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Missense_Mutation_p.I33V NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 33 Tudor 1. nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TCCATCACGAATTGAAAAAAT 0.348 16 159 --- --- --- --- PASS KHDRBS3 10656 broad.mit.edu 37 8 136619262 136619262 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:136619262A>G uc003yuv.2 + 7 1266 c.872A>G c.(871-873)TAT>TGT p.Y291C KHDRBS3_uc003yuw.2_Intron|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 291 Tyr-rich. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GATAACAGCTATAGCACCCCA 0.403 38 307 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139601674 139601674 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:139601674C>A uc003yvd.2 - 65 5150 c.4703G>T c.(4702-4704)GGG>GTG p.G1568V COL22A1_uc011ljo.1_Missense_Mutation_p.G848V NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1568 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCAGGTTCCCCGGGTTGACC 0.582 HNSCC(7;0.00092) 6 26 --- --- --- --- PASS PTK2 5747 broad.mit.edu 37 8 141745438 141745438 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:141745438G>A uc003yvu.2 - 22 2172 c.1942C>T c.(1942-1944)CCT>TCT p.P648S PTK2_uc003yvo.2_Missense_Mutation_p.P276S|PTK2_uc011ljq.1_Missense_Mutation_p.P343S|PTK2_uc003yvp.2_Missense_Mutation_p.P316S|PTK2_uc003yvq.2_Missense_Mutation_p.P174S|PTK2_uc003yvr.2_Missense_Mutation_p.P588S|PTK2_uc003yvs.2_Missense_Mutation_p.P648S|PTK2_uc003yvt.2_Missense_Mutation_p.P670S|PTK2_uc003yvv.2_Missense_Mutation_p.P548S|PTK2_uc011ljr.1_Missense_Mutation_p.P648S|MIR151_hsa-mir-151|MI0000809_5'Flank NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 648 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) AGGGTAGGAGGACAATTTGGA 0.478 36 129 --- --- --- --- PASS SLURP1 57152 broad.mit.edu 37 8 143823764 143823764 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:143823764C>T uc003ywy.2 - 1 66 c.40G>A c.(40-42)GCC>ACC p.A14T NM_020427 NP_065160 P55000 SLUR1_HUMAN ARS component B precursor 14 cell activation|cell adhesion extracellular space cytokine activity 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ATGCTCCAGGCTGCCACGAGC 0.637 13 45 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143960579 143960579 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:143960579C>A uc003yxi.2 - 2 271 c.264G>T c.(262-264)ATG>ATT p.M88I CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.M88I|CYP11B1_uc010mey.2_Missense_Mutation_p.M133I NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 88 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TCACACACACCATGCCTGCTC 0.632 Familial_Hyperaldosteronism_type_I 29 124 --- --- --- --- PASS CYP11B2 1585 broad.mit.edu 37 8 143996191 143996191 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:143996191G>T uc003yxk.1 - 4 732 c.729C>A c.(727-729)AGC>AGA p.S243R NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 243 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGCGAGACAGGCTCCTGGGCA 0.607 Familial_Hyperaldosteronism_type_I 7 40 --- --- --- --- PASS ZNF707 286075 broad.mit.edu 37 8 144776412 144776412 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:144776412C>G uc003yze.3 + 7 1143 c.828C>G c.(826-828)CTC>CTG p.L276L ZNF707_uc010mfh.2_Silent_p.L276L|ZNF707_uc010mfi.2_Silent_p.L276L|ZNF707_uc003yzf.3_Silent_p.L276L|ZNF707_uc003yzh.3_Silent_p.L203L|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 276 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAACCTTCTCAGACACCAGC 0.632 9 9 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144992859 144992859 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:144992859G>C uc003zaf.1 - 32 11711 c.11541C>G c.(11539-11541)CTC>CTG p.L3847L PLEC_uc003zab.1_Silent_p.L3710L|PLEC_uc003zac.1_Silent_p.L3714L|PLEC_uc003zad.2_Silent_p.L3710L|PLEC_uc003zae.1_Silent_p.L3678L|PLEC_uc003zag.1_Silent_p.L3688L|PLEC_uc003zah.2_Silent_p.L3696L|PLEC_uc003zaj.2_Silent_p.L3737L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3847 Globular 2.|Plectin 17. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCCTTTCTTGAGAGCCTGGT 0.662 12 114 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144998187 144998187 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:144998187C>T uc003zaf.1 - 31 6491 c.6321G>A c.(6319-6321)GCG>GCA p.A2107A PLEC_uc003zab.1_Silent_p.A1970A|PLEC_uc003zac.1_Silent_p.A1974A|PLEC_uc003zad.2_Silent_p.A1970A|PLEC_uc003zae.1_Silent_p.A1938A|PLEC_uc003zag.1_Silent_p.A1948A|PLEC_uc003zah.2_Silent_p.A1956A|PLEC_uc003zaj.2_Silent_p.A1997A NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2107 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCGCTGCCTCGCAGCCTCCA 0.746 6 17 --- --- --- --- PASS GPAA1 8733 broad.mit.edu 37 8 145138624 145138624 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:145138624C>G uc003zax.2 + 4 484 c.374C>G c.(373-375)TCG>TGG p.S125W GPAA1_uc003zav.1_Missense_Mutation_p.S3W|GPAA1_uc003zaw.1_Missense_Mutation_p.S65W NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 125 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGATGGTGTCGGGCACCAAC 0.637 11 68 --- --- --- --- PASS ZNF34 80778 broad.mit.edu 37 8 145999641 145999641 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr8:145999641G>C uc003zdy.3 - 6 795 c.693C>G c.(691-693)ATC>ATG p.I231M ZNF34_uc010mgb.2_Missense_Mutation_p.I128M|ZNF34_uc003zdx.3_Missense_Mutation_p.I210M NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) TTGCACTGAAGATTTCCCCAG 0.358 9 77 --- --- --- --- PASS IFNA10 3446 broad.mit.edu 37 9 21206859 21206859 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:21206859G>A uc003zoq.1 - 1 284 c.238C>T c.(238-240)CTC>TTC p.L80F IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 80 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) ATCTCATGGAGGACAGAGATG 0.483 4 96 --- --- --- --- PASS IFNA10 3446 broad.mit.edu 37 9 21206861 21206861 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:21206861A>G uc003zoq.1 - 1 282 c.236T>C c.(235-237)GTC>GCC p.V79A IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 79 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CTCATGGAGGACAGAGATGGC 0.488 4 99 --- --- --- --- PASS UBAP1 51271 broad.mit.edu 37 9 34241603 34241603 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:34241603C>G uc003ztx.2 + 4 815 c.580C>G c.(580-582)CAG>GAG p.Q194E UBAP1_uc010mka.1_Missense_Mutation_p.Q230E|UBAP1_uc003zty.2_Missense_Mutation_p.Q194E|UBAP1_uc011loi.1_Missense_Mutation_p.Q230E|UBAP1_uc011loj.1_Missense_Mutation_p.Q258E|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.Q194E NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 194 cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) CATTATGGCTCAGTTATTGGA 0.468 3 81 --- --- --- --- PASS TMEM8B 51754 broad.mit.edu 37 9 35853186 35853186 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:35853186G>C uc003zym.2 + 13 2030 c.1015G>C c.(1015-1017)GAC>CAC p.D339H TMEM8B_uc003zyo.2_Missense_Mutation_p.D339H NM_001042589 NP_001036054 A6NDV4 TMM8B_HUMAN transmembrane protein 8B isoform a 339 Extracellular (Potential). cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding ovary(1) 1 TCTGCAGCTTGACCGACATGG 0.602 41 240 --- --- --- --- PASS OR2S2 56656 broad.mit.edu 37 9 35957495 35957495 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:35957495C>G uc011lpi.1 - 1 657 c.601G>C c.(601-603)GAG>CAG p.E201Q NM_019897 NP_063950 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TTCGTCACCTCCATGCTGATC 0.493 21 133 --- --- --- --- PASS OR2S2 56656 broad.mit.edu 37 9 35957889 35957889 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:35957889G>C uc011lpi.1 - 1 263 c.207C>G c.(205-207)TTC>TTG p.F69L NM_019897 NP_063950 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) AGATGTCCAGGAAGGAGAGGT 0.567 19 35 --- --- --- --- PASS PIP5K1B 8395 broad.mit.edu 37 9 71478840 71478840 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:71478840C>G uc004agu.2 + 5 462 c.157C>G c.(157-159)CTT>GTT p.L53V PIP5K1B_uc011lrq.1_Missense_Mutation_p.L53V|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 53 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) ACGAGATGTTCTTATGCAAGA 0.403 7 301 --- --- --- --- PASS DAPK1 1612 broad.mit.edu 37 9 90312079 90312079 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:90312079C>G uc004apc.2 + 22 2709 c.2571C>G c.(2569-2571)CTC>CTG p.L857L DAPK1_uc004apd.2_Silent_p.L857L|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Silent_p.L594L NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 857 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TTTTCTGGCTCAGTTTCCTGA 0.488 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 18 96 --- --- --- --- PASS FAM22G 441457 broad.mit.edu 37 9 99694157 99694157 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:99694157C>G uc004awq.1 + 2 885 c.170C>G c.(169-171)TCT>TGT p.S57C NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 57 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) CTGGTGCTCTCTGCCTTCCCC 0.657 3 18 --- --- --- --- PASS C9orf125 84302 broad.mit.edu 37 9 104238938 104238938 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:104238938A>G uc004bbm.2 - 2 759 c.437T>C c.(436-438)GTG>GCG p.V146A uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 146 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) ACTACGCTCCACGTTGCACAG 0.557 20 80 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107560723 107560723 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:107560723G>C uc004bcl.2 - 37 5413 c.5100C>G c.(5098-5100)CTC>CTG p.L1700L NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1700 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAAAATTAGAGAGCCAGTAGA 0.483 32 67 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107560846 107560846 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:107560846G>A uc004bcl.2 - 37 5290 c.4977C>T c.(4975-4977)ATC>ATT p.I1659I NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1659 Helical; (Potential). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGATGACACAGATGGACACAA 0.498 3 62 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113265483 113265483 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:113265483G>A uc010mtz.2 - 6 1655 c.1318C>T c.(1318-1320)CAT>TAT p.H440Y SVEP1_uc010mua.1_Missense_Mutation_p.H440Y|SVEP1_uc004beu.2_Missense_Mutation_p.H440Y NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 440 Sushi 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGGCGGAGATGAGGACATGTT 0.373 59 84 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115818839 115818839 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:115818839C>T uc004bgm.1 - 1 158 c.130G>A c.(130-132)GCG>ACG p.A44T ZFP37_uc011lwz.1_Missense_Mutation_p.A44T|ZFP37_uc011lxa.1_Missense_Mutation_p.A44T NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 44 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GCTCTCACCGCGGCGCTGGCC 0.592 109 177 --- --- --- --- PASS RABGAP1 23637 broad.mit.edu 37 9 125782649 125782649 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:125782649G>A uc011lzh.1 + 13 1839 c.1705G>A c.(1705-1707)GAA>AAA p.E569K RABGAP1_uc004bnl.3_RNA NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 569 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 CGGTGTCCCTGAAGCTCTTCG 0.443 20 104 --- --- --- --- PASS RALGPS1 9649 broad.mit.edu 37 9 129937052 129937052 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:129937052G>T uc004bqo.1 + 11 1168 c.901G>T c.(901-903)GAT>TAT p.D301Y RALGPS1_uc011mab.1_Missense_Mutation_p.D301Y|RALGPS1_uc011mac.1_Missense_Mutation_p.D301Y|RALGPS1_uc004bqq.3_Missense_Mutation_p.D301Y NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 301 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 TTCCAAGGAAGATCTTGCAGG 0.493 7 212 --- --- --- --- PASS DNM1 1759 broad.mit.edu 37 9 130984795 130984795 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:130984795C>G uc011mau.1 + 8 1135 c.1048C>G c.(1048-1050)CAG>GAG p.Q350E DNM1_uc010mxr.2_Missense_Mutation_p.Q350E|DNM1_uc011mat.1_Missense_Mutation_p.Q350E NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 350 receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 CTCAGGAGATCAGATCGACAC 0.607 18 101 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131345472 131345472 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:131345472C>A uc004bvl.3 + 15 2036 c.1923C>A c.(1921-1923)GTC>GTA p.V641V SPTAN1_uc011mbg.1_Silent_p.V641V|SPTAN1_uc011mbh.1_Silent_p.V653V|SPTAN1_uc004bvm.3_Silent_p.V641V|SPTAN1_uc004bvn.3_Silent_p.V641V NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 641 Spectrin 7. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGATTGATGTCAACCACTATG 0.463 3 62 --- --- --- --- PASS TBC1D13 54662 broad.mit.edu 37 9 131568141 131568141 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:131568141G>A uc010myj.2 + 10 1045 c.922G>A c.(922-924)GAG>AAG p.E308K TBC1D13_uc010myk.2_Missense_Mutation_p.E183K|TBC1D13_uc010myl.2_Missense_Mutation_p.E127K NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 308 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 TCCCCAGCAAGAGCAGAACAT 0.597 6 30 --- --- --- --- PASS BAT2L1 84726 broad.mit.edu 37 9 134348896 134348896 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:134348896A>G uc004can.3 + 14 2164 c.2109A>G c.(2107-2109)GGA>GGG p.G703G BAT2L1_uc010mzj.1_Silent_p.G286G|BAT2L1_uc004cao.3_Silent_p.G61G NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 703 protein binding 0 CTTCTTCAGGACTGATGAAGC 0.502 3 13 --- --- --- --- PASS C9orf98 158067 broad.mit.edu 37 9 135702386 135702386 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:135702386G>C uc004cbu.1 - 8 1168 c.612C>G c.(610-612)CTC>CTG p.L204L C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 204 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) CTGGCACCATGAGACGGTTCT 0.517 52 283 --- --- --- --- PASS TSC1 7248 broad.mit.edu 37 9 135804213 135804213 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:135804213G>C uc004cca.2 - 3 281 c.47C>G c.(46-48)TCC>TGC p.S16C TSC1_uc004ccb.3_Missense_Mutation_p.S16C|TSC1_uc011mcq.1_Missense_Mutation_p.S16C|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Missense_Mutation_p.S16C|TSC1_uc004ccd.2_Missense_Mutation_p.S16C|TSC1_uc004cce.1_Missense_Mutation_p.S16C NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 16 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CAGCATGGGGGAGTCCAGCAT 0.502 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 24 116 --- --- --- --- PASS BRD3 8019 broad.mit.edu 37 9 136917502 136917502 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:136917502T>A uc004cew.2 - 3 465 c.277A>T c.(277-279)AAT>TAT p.N93Y BRD3_uc004cex.2_Missense_Mutation_p.N93Y NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 93 Bromo 1. nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CAATAATAATTATTTTCTAGT 0.358 T NUT|C15orf55 lethal midline carcinoma of young people 25 98 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139272375 139272375 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:139272375G>A uc004chh.2 - 21 3913 c.3904C>T c.(3904-3906)CCC>TCC p.P1302S NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 1302 SNAPC2-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGCTGATAGGGCAGTCTGCTG 0.701 9 24 --- --- --- --- PASS C9orf86 55684 broad.mit.edu 37 9 139734662 139734662 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:139734662G>C uc004cji.1 + 14 2255 c.1987G>C c.(1987-1989)GAG>CAG p.E663Q C9orf86_uc004cjj.1_Missense_Mutation_p.E664Q|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.E548Q|C9orf86_uc004cjn.1_Missense_Mutation_p.E457Q NM_024718 NP_078994 Q3YEC7 PARF_HUMAN Rab-like GTP-binding protein 1 isoform 1 663 Interaction with CDKN2A.|Lys-rich. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) aaaAGGCAAAGAGGTACTGGC 0.537 10 35 --- --- --- --- PASS RNF208 727800 broad.mit.edu 37 9 140115307 140115307 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:140115307G>C uc004clz.1 - 1 469 c.358C>G c.(358-360)CAG>GAG p.Q120E NM_031297 NP_112587 Q9H0X6 RN208_HUMAN ring finger protein 208 120 zinc ion binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) ATCACGTACTGATTCACAATG 0.682 12 21 --- --- --- --- PASS FAM166A 401565 broad.mit.edu 37 9 140140245 140140245 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:140140245C>T uc004cmi.1 - 2 172 c.117G>A c.(115-117)ACG>ACA p.T39T NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 39 ovary(1) 1 GCAGCTGCCCCGTGGTACGCC 0.602 16 51 --- --- --- --- PASS WDR85 92715 broad.mit.edu 37 9 140449841 140449841 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:140449841C>T uc004cnk.1 - 9 1367 c.1209G>A c.(1207-1209)ATG>ATA p.M403I WDR85_uc004cnj.1_Missense_Mutation_p.M132I|WDR85_uc004cnl.1_Missense_Mutation_p.M227I|WDR85_uc004cnm.1_Missense_Mutation_p.M164I|WDR85_uc004cnn.1_Missense_Mutation_p.M132I|WDR85_uc004cni.2_RNA NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 403 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) CATTCTTCCTCATGCCCTCTG 0.582 17 69 --- --- --- --- PASS DIP2C 22982 broad.mit.edu 37 10 468776 468776 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:468776G>A uc001ifp.2 - 5 682 c.592C>T c.(592-594)CAG>TAG p.Q198* DIP2C_uc009xhk.1_Silent_p.L199L NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 198 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ATGTGGGTCTGAGCCATGACG 0.607 22 119 --- --- --- --- PASS AKR1C2 1646 broad.mit.edu 37 10 5040915 5040915 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:5040915C>A uc010qan.1 - 5 651 c.472G>T c.(472-474)GGA>TGA p.G158* AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C2_uc009xhy.2_Nonsense_Mutation_p.G132*|AKR1C2_uc001ihs.2_Nonsense_Mutation_p.G158*|AKR1C2_uc001iht.2_Nonsense_Mutation_p.G158* NM_205845 NP_995317 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 158 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 NADH(DB00157)|Ursodeoxycholic acid(DB01586) TTGGCCAATCCTGCATCTTTA 0.473 51 107 --- --- --- --- PASS PRKCQ 5588 broad.mit.edu 37 10 6533699 6533699 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:6533699C>T uc001ijj.1 - 8 811 c.736G>A c.(736-738)GAA>AAA p.E246K PRKCQ_uc009xim.1_Missense_Mutation_p.E246K|PRKCQ_uc001iji.1_Missense_Mutation_p.E279K|PRKCQ_uc009xin.1_Missense_Mutation_p.E210K|PRKCQ_uc010qax.1_Missense_Mutation_p.E121K NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 246 Phorbol-ester/DAG-type 2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 CCACAGTGTTCACAGAAGGTC 0.517 29 156 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12150012 12150012 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:12150012C>G uc001ild.3 + 12 2251 c.2152C>G c.(2152-2154)CAG>GAG p.Q718E NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 718 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GCGTTTCCTGCAGGTAAGGGT 0.527 15 97 --- --- --- --- PASS CDC123 8872 broad.mit.edu 37 10 12279228 12279228 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:12279228C>G uc001ill.2 + 9 935 c.651C>G c.(649-651)TTC>TTG p.F217L CDC123_uc001ilm.2_Missense_Mutation_p.F229L NM_006023 NP_006014 O75794 CD123_HUMAN cell division cycle 123 217 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1) 1 AAGACTTTTTCAAGAAACACA 0.289 8 141 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16911750 16911750 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:16911750G>A uc001ioo.2 - 59 9391 c.9339C>T c.(9337-9339)TGC>TGT p.C3113C CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.C469C NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3113 CUB 23. 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) GCTTGGAACCGCAGAATTTGC 0.478 40 225 --- --- --- --- PASS PRTFDC1 56952 broad.mit.edu 37 10 25231336 25231336 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:25231336C>G uc001ise.1 - 2 107 c.78G>C c.(76-78)TTG>TTC p.L26F PRTFDC1_uc010qdd.1_Missense_Mutation_p.L26F|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA NM_020200 NP_064585 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 26 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity ovary(1) 1 TGAATAAATTCAAGTCATACC 0.358 32 180 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27306664 27306664 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:27306664T>A uc001ith.2 - 30 4442 c.4270A>T c.(4270-4272)ACA>TCA p.T1424S ANKRD26_uc001itg.2_Missense_Mutation_p.T1111S|ANKRD26_uc009xku.1_Missense_Mutation_p.T1425S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1424 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGGTTCTTTGTATCCAGATGT 0.328 39 110 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34620181 34620181 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:34620181C>G uc010qej.1 - 19 2706 c.2706G>C c.(2704-2706)TTG>TTC p.L902F PARD3_uc010qek.1_Missense_Mutation_p.L899F|PARD3_uc010qel.1_Missense_Mutation_p.L902F|PARD3_uc010qem.1_Missense_Mutation_p.L886F|PARD3_uc010qen.1_Missense_Mutation_p.L856F|PARD3_uc010qeo.1_Missense_Mutation_p.L856F|PARD3_uc010qep.1_Missense_Mutation_p.L812F|PARD3_uc010qeq.1_Missense_Mutation_p.L827F|PARD3_uc001ixo.1_Missense_Mutation_p.L615F|PARD3_uc001ixp.1_Missense_Mutation_p.L733F|PARD3_uc001ixq.1_Missense_Mutation_p.L856F|PARD3_uc001ixr.1_Missense_Mutation_p.L899F|PARD3_uc001ixt.1_Missense_Mutation_p.L720F|PARD3_uc001ixu.1_Missense_Mutation_p.L844F|PARD3_uc001ixs.1_Missense_Mutation_p.L525F NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 902 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TATCCCCATTCAAAGTCACCT 0.532 21 105 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38345149 38345149 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:38345149G>A uc001izh.2 + 5 2272 c.2094G>A c.(2092-2094)GGG>GGA p.G698G ZNF33A_uc001izg.2_Silent_p.G699G|ZNF33A_uc010qev.1_Silent_p.G705G|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 698 C2H2-type 14. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 ATGAATGTGGGAAATTCTTCA 0.383 24 174 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43088960 43088960 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:43088960G>A uc001jaf.1 - 5 1553 c.1438C>T c.(1438-1440)CAA>TAA p.Q480* ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q368*|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 480 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGTGACTTTTGACAAAAGGAT 0.393 29 251 --- --- --- --- PASS RET 5979 broad.mit.edu 37 10 43615124 43615124 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:43615124C>T uc001jal.2 + 14 2728 c.2538C>T c.(2536-2538)CTC>CTT p.L846L RET_uc001jak.1_Silent_p.L846L|RET_uc010qez.1_Silent_p.L592L NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 846 Protein kinase.|Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) AGCGGGCCCTCACCATGGGCG 0.647 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 19 71 --- --- --- --- PASS PPYR1 5540 broad.mit.edu 37 10 47086923 47086923 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:47086923C>T uc001jee.2 + 3 559 c.140C>T c.(139-141)TCC>TTC p.S47F ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S47F NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 47 Helical; Name=1; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 ATCGTCACTTCCTACAGCATT 0.522 15 304 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48389546 48389546 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:48389546G>A uc001jez.2 - 1 1446 c.1332C>T c.(1330-1332)TTC>TTT p.F444F NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 444 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CAAAACTATCGAAGCGCAGGT 0.617 14 63 --- --- --- --- PASS CSTF2T 23283 broad.mit.edu 37 10 53458459 53458459 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:53458459C>G uc001jjp.2 - 1 897 c.851G>C c.(850-852)GGA>GCA p.G284A PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 284 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CTGCATTGCTCCTCCAGGAGT 0.577 24 157 --- --- --- --- PASS ADO 84890 broad.mit.edu 37 10 64565598 64565598 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:64565598G>C uc001jmg.2 + 1 1083 c.779G>C c.(778-780)GGA>GCA p.G260A NM_032804 NP_116193 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 260 cysteamine dioxygenase activity|metal ion binding 0 Prostate(12;0.0297)|all_hematologic(501;0.228) TGGTGCGAGGGAGAACCCTAT 0.652 2 2 --- --- --- --- PASS EGR2 1959 broad.mit.edu 37 10 64573644 64573644 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:64573644G>T uc010qim.1 - 3 908 c.754C>A c.(754-756)CCA>ACA p.P252T EGR2_uc010qin.1_Missense_Mutation_p.P202T|EGR2_uc001jmi.2_Missense_Mutation_p.P252T|EGR2_uc010qio.1_Missense_Mutation_p.P265T|EGR2_uc009xph.2_Missense_Mutation_p.P252T NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 252 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GTGTCCAGTGGGCAGGGAAAG 0.597 26 62 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69934114 69934114 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:69934114G>C uc001jnm.3 + 12 2450 c.2265G>C c.(2263-2265)CAG>CAC p.Q755H MYPN_uc001jnn.3_Missense_Mutation_p.Q480H|MYPN_uc001jno.3_Missense_Mutation_p.Q755H|MYPN_uc009xpt.2_Missense_Mutation_p.Q755H|MYPN_uc010qit.1_Missense_Mutation_p.Q461H|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 755 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AAACTATTCAGAGGACAGTGA 0.542 40 178 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69961666 69961666 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:69961666G>C uc001jnm.3 + 19 3759 c.3574G>C c.(3574-3576)GAG>CAG p.E1192Q MYPN_uc001jnn.3_Missense_Mutation_p.E917Q|MYPN_uc001jno.3_Missense_Mutation_p.E1192Q|MYPN_uc009xpt.2_Missense_Mutation_p.E1192Q|MYPN_uc010qit.1_Missense_Mutation_p.E898Q|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1192 Interaction with ACTN.|Ig-like 5. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CGTGAGACTGGAGTGCCGCGT 0.547 36 153 --- --- --- --- PASS CCAR1 55749 broad.mit.edu 37 10 70525822 70525822 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:70525822G>C uc001joo.2 + 17 2403 c.2284G>C c.(2284-2286)GAA>CAA p.E762Q CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.E567Q|CCAR1_uc009xpx.1_Missense_Mutation_p.E736Q|CCAR1_uc001jon.1_Missense_Mutation_p.E708Q|CCAR1_uc010qiz.1_Missense_Mutation_p.E747Q|CCAR1_uc010qja.1_Missense_Mutation_p.E747Q|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 762 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 GGATAATAAAGAACATTCATT 0.239 14 111 --- --- --- --- PASS SYNPO2L 79933 broad.mit.edu 37 10 75407379 75407379 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:75407379C>G uc001jut.3 - 4 2183 c.2031G>C c.(2029-2031)CTG>CTC p.L677L SYNPO2L_uc001jus.3_Silent_p.L453L NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 677 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) CCCCGAGGCTCAGAGCATCTT 0.597 27 129 --- --- --- --- PASS SFTPA1 653509 broad.mit.edu 37 10 81373854 81373854 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:81373854C>T uc001kap.2 + 6 853 c.732C>T c.(730-732)ACC>ACT p.T244T SFTPA1_uc001kaq.2_Silent_p.T244T|SFTPA1_uc009xry.2_Silent_p.T259T|SFTPA1_uc001kar.2_Silent_p.T244T|SFTPA1_uc010qlt.1_Silent_p.T185T|SFTPA1_uc009xrz.2_Silent_p.T174T|SFTPA1_uc009xsa.2_Silent_p.T244T|SFTPA1_uc009xsf.2_RNA NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 244 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CCCGACTGACCATCTGTGAGT 0.582 30 95 --- --- --- --- PASS GHITM 27069 broad.mit.edu 37 10 85904678 85904678 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:85904678A>T uc001kcs.1 + 5 593 c.389A>T c.(388-390)TAC>TTC p.Y130F GHITM_uc010qma.1_Intron|GHITM_uc010qmb.1_Missense_Mutation_p.Y60F NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 130 Helical; (Potential). apoptosis integral to membrane|mitochondrial inner membrane 0 ACCTATATGTACTTAGCAGGG 0.363 66 118 --- --- --- --- PASS BTAF1 9044 broad.mit.edu 37 10 93741417 93741417 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:93741417G>C uc001khr.2 + 16 1871 c.1773G>C c.(1771-1773)TTG>TTC p.L591F BTAF1_uc001khs.1_Missense_Mutation_p.L261F|BTAF1_uc001kht.1_Missense_Mutation_p.L29F NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 591 HEAT 4. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TGGAACTGTTGAGTAAGGCTT 0.403 29 163 --- --- --- --- PASS BTAF1 9044 broad.mit.edu 37 10 93749178 93749178 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:93749178C>T uc001khr.2 + 20 2793 c.2695C>T c.(2695-2697)CAG>TAG p.Q899* BTAF1_uc001khs.1_Nonsense_Mutation_p.Q569*|BTAF1_uc001kht.1_Nonsense_Mutation_p.Q337* NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 899 HEAT 6. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) CTATGCAGCTCAGTGCATAGC 0.398 15 86 --- --- --- --- PASS LGI1 9211 broad.mit.edu 37 10 95557191 95557191 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:95557191G>T uc001kjc.3 + 8 1641 c.1305G>T c.(1303-1305)GTG>GTT p.V435V LGI1_uc010qnv.1_Silent_p.V387V|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 435 EAR 5. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) TGTACGCAGTGAAGCACTTCT 0.433 19 98 --- --- --- --- PASS TMEM20 159371 broad.mit.edu 37 10 95658372 95658372 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:95658372A>C uc001kjg.1 + 2 284 c.223A>C c.(223-225)ACA>CCA p.T75P TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.T74P|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.T58P|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 75 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) CTTGTTTTACACATTATTGTC 0.398 24 127 --- --- --- --- PASS ALDH18A1 5832 broad.mit.edu 37 10 97392719 97392719 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:97392719C>G uc001kkz.2 - 7 1047 c.805G>C c.(805-807)GAA>CAA p.E269Q ALDH18A1_uc001kky.2_Missense_Mutation_p.E267Q|ALDH18A1_uc010qog.1_Missense_Mutation_p.E158Q|ALDH18A1_uc010qoh.1_Missense_Mutation_p.E57Q NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 269 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TTTGTACCTTCTACATCTGAA 0.383 5 88 --- --- --- --- PASS TLL2 7093 broad.mit.edu 37 10 98273363 98273363 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:98273363C>G uc001kml.1 - 1 306 c.80G>C c.(79-81)GGG>GCG p.G27A TLL2_uc009xvf.1_Missense_Mutation_p.G27A NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 27 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGGGCGCTCCCCGAGTCCCCC 0.726 3 17 --- --- --- --- PASS CPN1 1369 broad.mit.edu 37 10 101802191 101802191 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:101802191G>T uc001kql.2 - 9 1630 c.1370C>A c.(1369-1371)CCT>CAT p.P457H NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 457 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GTTTCAGGCAGGGCCTCTCTG 0.512 50 76 --- --- --- --- PASS PCGF6 84108 broad.mit.edu 37 10 105110820 105110820 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:105110820C>G uc001kwt.2 - 1 72 c.4G>C c.(4-6)GAG>CAG p.E2Q PCGF6_uc001kwu.2_Missense_Mutation_p.E2Q|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 isoform a 2 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1) 1 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) GCGACCCCCTCCATGGTCGGG 0.612 3 22 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105912413 105912413 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:105912413C>G uc001kxw.2 - 28 3728 c.3612G>C c.(3610-3612)TTG>TTC p.L1204F C10orf79_uc009xxq.2_Missense_Mutation_p.L512F NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1204 Potential. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) AAAGTCTTTTCAAATGTTCAT 0.318 30 178 --- --- --- --- PASS ITPRIP 85450 broad.mit.edu 37 10 106075282 106075282 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:106075282C>G uc001kye.2 - 2 601 c.528G>C c.(526-528)AGG>AGC p.R176S ITPRIP_uc001kyf.2_Missense_Mutation_p.R176S|ITPRIP_uc001kyg.2_Missense_Mutation_p.R176S NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 176 plasma membrane 0 TGCAGAGGCTCCTCAGGGCTT 0.627 9 88 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108430994 108430994 + Splice_Site SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:108430994C>G uc001kym.2 - 16 2197 c.2189_splice c.e16+1 p.C730_splice SORCS1_uc001kyl.2_Splice_Site_p.C730_splice|SORCS1_uc009xxs.2_Splice_Site_p.C730_splice|SORCS1_uc001kyn.1_Splice_Site_p.C730_splice|SORCS1_uc001kyo.2_Splice_Site_p.C730_splice NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CACAAGCTCACCAATCAAAAT 0.408 32 68 --- --- --- --- PASS TECTB 6975 broad.mit.edu 37 10 114059307 114059307 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:114059307G>C uc001kzr.1 + 8 892 c.892G>C c.(892-894)GAG>CAG p.E298Q NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 298 anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) CCTGGTCGTGGAGCTCTCCCT 0.587 17 79 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115980379 115980379 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:115980379G>C uc001lbg.1 + 19 2700 c.2547G>C c.(2545-2547)CAG>CAC p.Q849H TDRD1_uc001lbf.2_Missense_Mutation_p.Q726H|TDRD1_uc001lbh.1_Missense_Mutation_p.Q840H|TDRD1_uc001lbi.1_Missense_Mutation_p.Q840H|TDRD1_uc010qsc.1_Missense_Mutation_p.Q453H|TDRD1_uc001lbj.2_Missense_Mutation_p.Q558H NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 849 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CAAGATTCCAGATGTGTGTTG 0.388 24 99 --- --- --- --- PASS C10orf84 63877 broad.mit.edu 37 10 120095918 120095918 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:120095918C>A uc001ldo.2 - 3 277 c.10G>T c.(10-12)GGG>TGG p.G4W C10orf84_uc010qss.1_Missense_Mutation_p.G4W NM_022063 NP_071346 Q9H8W3 F204A_HUMAN hypothetical protein LOC63877 4 0 Colorectal(252;0.101) all cancers(201;0.0244) GGTAGCAGCCCACTCCACATC 0.388 13 64 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127434418 127434418 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:127434418G>A uc001liq.1 + 19 3026 c.2733G>A c.(2731-2733)CGG>CGA p.R911R C10orf137_uc001lin.2_Silent_p.R877R|C10orf137_uc001lio.1_Silent_p.R877R|C10orf137_uc001lip.1_Silent_p.R615R|C10orf137_uc001lis.1_Silent_p.R237R NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 911 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GGCTCATGCGGATTTGTGCGC 0.428 30 139 --- --- --- --- PASS FANK1 92565 broad.mit.edu 37 10 127693455 127693455 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr10:127693455T>C uc001ljh.3 + 7 646 c.542T>C c.(541-543)CTA>CCA p.L181P FANK1_uc009yan.2_Missense_Mutation_p.L207P|FANK1_uc001lji.2_Missense_Mutation_p.L175P NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 181 ANK 3. cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TGTTGCAGTCTAATGCTGGCG 0.488 50 79 --- --- --- --- PASS RASSF7 8045 broad.mit.edu 37 11 562244 562244 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:562244C>G uc001lqc.2 + 3 325 c.290C>G c.(289-291)TCA>TGA p.S97* C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Nonsense_Mutation_p.S97*|RASSF7_uc001lqb.2_Nonsense_Mutation_p.S97*|RASSF7_uc001lqd.2_Nonsense_Mutation_p.S97* NM_003475 NP_003466 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family 97 regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGCCCTCCTCAGACAGCTGT 0.662 11 52 --- --- --- --- PASS PHRF1 57661 broad.mit.edu 37 11 601622 601622 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:601622C>G uc001lqe.2 + 10 1204 c.1073C>G c.(1072-1074)TCC>TGC p.S358C PHRF1_uc010qwc.1_Missense_Mutation_p.S358C|PHRF1_uc010qwd.1_Missense_Mutation_p.S357C|PHRF1_uc010qwe.1_Missense_Mutation_p.S354C|PHRF1_uc009ybz.1_Missense_Mutation_p.S149C NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 358 Arg-rich. RNA polymerase binding|zinc ion binding 0 TCCGGACCATCCGCAAAAAGT 0.522 12 34 --- --- --- --- PASS DRD4 1815 broad.mit.edu 37 11 639799 639799 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:639799G>A uc001lqp.1 + 3 550 c.550G>A c.(550-552)GTG>ATG p.V184M NM_000797 NP_000788 P21917 DRD4_HUMAN dopamine receptor D4 184 Extracellular (Potential). activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) CGACCCCGCCGTGTGCCGCCT 0.711 6 20 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4967872 4967872 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:4967872C>G uc010qys.1 - 1 459 c.459G>C c.(457-459)AAG>AAC p.K153N NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAGCATGCTCTTAAAGGAGA 0.423 127 182 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5344952 5344952 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:5344952G>C uc001mao.1 - 1 631 c.576C>G c.(574-576)TTC>TTG p.F192L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGTCTATTGAAAGTTATGT 0.363 7 70 --- --- --- --- PASS OR52N4 390072 broad.mit.edu 37 11 5776200 5776200 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:5776200C>G uc001mbu.2 + 1 278 c.230C>G c.(229-231)TCT>TGT p.S77C TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GTTATGTGCTCTAGTACAATC 0.448 7 133 --- --- --- --- PASS SMPD1 6609 broad.mit.edu 37 11 6413202 6413202 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:6413202G>A uc001mcw.2 + 2 1081 c.907G>A c.(907-909)GCA>ACA p.A303T SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.A303T|SMPD1_uc009yew.2_Missense_Mutation_p.A302T NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 301 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CACCGTCACAGCACTTGTGAG 0.577 52 82 --- --- --- --- PASS OR2AG1 144125 broad.mit.edu 37 11 6807104 6807104 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:6807104C>G uc001mer.1 + 1 836 c.836C>G c.(835-837)ACA>AGA p.T279R NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 279 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTTTTCTACACAATTGTCACT 0.498 3 134 --- --- --- --- PASS C11orf17 56672 broad.mit.edu 37 11 8934078 8934078 + Missense_Mutation SNP G C C rs146611149 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:8934078G>C uc001mgx.2 + 3 377 c.301G>C c.(301-303)GGG>CGG p.G101R ST5_uc001mgv.2_5'Flank|C11orf17_uc001mgz.2_Missense_Mutation_p.G101R|C11orf17_uc001mgy.2_Intron|C11orf17_uc010rbr.1_Missense_Mutation_p.G101R|C11orf17_uc010rbs.1_Intron|C11orf17_uc001mha.2_Missense_Mutation_p.G101R NM_020642 NP_065693 Q9NQ31 AKIP1_HUMAN chromosome 11 open reading frame 17 101 nucleus protein binding 0 Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243) AAGTCAGTGTGGGGTAAGTTG 0.448 12 62 --- --- --- --- PASS SPON1 10418 broad.mit.edu 37 11 14277308 14277308 + Missense_Mutation SNP T G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:14277308T>G uc001mle.2 + 10 1746 c.1208T>G c.(1207-1209)GTT>GGT p.V403G NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 403 cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GTAGCCAGAGTTGTCATCGAG 0.557 15 109 --- --- --- --- PASS PDE3B 5140 broad.mit.edu 37 11 14889102 14889102 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:14889102T>C uc001mln.2 + 15 3290 c.2937T>C c.(2935-2937)CGT>CGC p.R979R PDE3B_uc010rcr.1_Silent_p.R928R NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 979 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TCATGGATCGTTCTTCTCCTC 0.423 26 123 --- --- --- --- PASS INSC 387755 broad.mit.edu 37 11 15247260 15247260 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:15247260C>T uc001mly.2 + 9 1243 c.1197C>T c.(1195-1197)ATC>ATT p.I399I INSC_uc001mlz.2_Silent_p.I352I|INSC_uc001mma.2_Silent_p.I352I|INSC_uc010rcs.1_Silent_p.I387I|INSC_uc001mmb.2_Silent_p.I352I|INSC_uc001mmc.2_Silent_p.I310I NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 399 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TTGCCAACATCACGTTCTTTG 0.507 12 56 --- --- --- --- PASS SOX6 55553 broad.mit.edu 37 11 16068081 16068081 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:16068081C>G uc001mme.2 - 12 1674 c.1641G>C c.(1639-1641)CTG>CTC p.L547L SOX6_uc001mmd.2_Silent_p.L510L|SOX6_uc001mmf.2_Silent_p.L507L|SOX6_uc001mmg.2_Silent_p.L534L NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 534 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TGCAGCTGTTCAGCCCCATAT 0.512 33 172 --- --- --- --- PASS PTPN5 84867 broad.mit.edu 37 11 18755112 18755112 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:18755112G>T uc001mpd.2 - 10 1502 c.1071C>A c.(1069-1071)AAC>AAA p.N357K PTPN5_uc001mpb.2_Missense_Mutation_p.N325K|PTPN5_uc001mpc.2_Missense_Mutation_p.N357K|PTPN5_uc001mpe.2_Missense_Mutation_p.N325K|PTPN5_uc010rdj.1_Missense_Mutation_p.N301K|PTPN5_uc001mpf.2_Missense_Mutation_p.N333K|PTPN5_uc010rdk.1_Missense_Mutation_p.N302K NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 357 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 CCCGGATGTAGTTGGCATTGA 0.582 41 110 --- --- --- --- PASS PRMT3 10196 broad.mit.edu 37 11 20483558 20483558 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:20483558G>A uc001mqb.2 + 12 1322 c.1105G>A c.(1105-1107)GCA>ACA p.A369T PRMT3_uc001mqc.2_Missense_Mutation_p.A292T|PRMT3_uc010rdn.1_Missense_Mutation_p.A307T NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 369 zinc ion binding 0 CAGCCTTGTAGCAGTGAGTGA 0.368 85 230 --- --- --- --- PASS PRMT3 10196 broad.mit.edu 37 11 20515483 20515483 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:20515483G>T uc001mqb.2 + 14 1583 c.1366G>T c.(1366-1368)GAT>TAT p.D456Y PRMT3_uc001mqc.2_Missense_Mutation_p.D379Y|PRMT3_uc010rdn.1_Missense_Mutation_p.D394Y NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 456 zinc ion binding 0 TGGCTACTTTGATATATATTT 0.269 16 140 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033664 30033664 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:30033664C>T uc001msk.2 - 2 1714 c.562G>A c.(562-564)GAG>AAG p.E188K NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 188 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATTTGGGTCTCAAAGCGTAGG 0.498 20 100 --- --- --- --- PASS FSHB 2488 broad.mit.edu 37 11 30255159 30255159 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:30255159A>T uc001msl.2 + 3 271 c.202A>T c.(202-204)ACA>TCA p.T68S FSHB_uc001msm.2_Missense_Mutation_p.T68S|FSHB_uc001msn.2_Missense_Mutation_p.T68S NM_000510 NP_000501 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 68 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity ovary(3) 3 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) AATCCAGAAAACATGTACCTT 0.463 7 106 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30937170 30937170 + RNA SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:30937170G>C uc001mss.1 - 5 c.644C>G uc009yjk.1_Missense_Mutation_p.Q629E Homo sapiens mRNA for KIAA1493 protein, partial cds. AAGACTAGCTGAGGAGCAGCA 0.468 4 122 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136590 40136590 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:40136590A>C uc001mxa.1 - 2 3217 c.1253T>G c.(1252-1254)GTG>GGG p.V418G LRRC4C_uc001mxc.1_Missense_Mutation_p.V414G|LRRC4C_uc001mxd.1_Missense_Mutation_p.V414G|LRRC4C_uc001mxb.1_Missense_Mutation_p.V414G NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 418 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TGTATCTTGCACAGTTACATT 0.443 51 370 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43436245 43436245 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:43436245G>C uc001mxi.2 + 16 2184 c.2170G>C c.(2170-2172)GAG>CAG p.E724Q TTC17_uc001mxh.2_Missense_Mutation_p.E724Q|TTC17_uc010rfj.1_Missense_Mutation_p.E667Q|TTC17_uc001mxj.2_Missense_Mutation_p.E494Q NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 724 binding ovary(5) 5 CAAATGTCCAGAGTGTGAAAA 0.438 45 251 --- --- --- --- PASS KIAA0652 9776 broad.mit.edu 37 11 46690091 46690091 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:46690091C>T uc009yld.2 + 15 1879 c.1195C>T c.(1195-1197)CCC>TCC p.P399S KIAA0652_uc001nda.2_Missense_Mutation_p.P432S|KIAA0652_uc001ndb.2_Missense_Mutation_p.P399S|KIAA0652_uc001ncz.2_Missense_Mutation_p.P362S|KIAA0652_uc001ndc.2_Missense_Mutation_p.P362S|KIAA0652_uc010rgv.1_Missense_Mutation_p.P283S NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 399 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) CATGTTTGCTCCCAAGAATTT 0.512 41 145 --- --- --- --- PASS ARFGAP2 84364 broad.mit.edu 37 11 47188357 47188357 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:47188357T>C uc001ndt.2 - 13 1301 c.1286A>G c.(1285-1287)AAA>AGA p.K429R ARFGAP2_uc010rha.1_Missense_Mutation_p.K160R|ARFGAP2_uc010rhb.1_Missense_Mutation_p.K401R|ARFGAP2_uc001ndu.2_Missense_Mutation_p.K293R|ARFGAP2_uc010rhc.1_Missense_Mutation_p.K160R NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 429 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 TGAGATGGCTTTGGCTCCTGC 0.582 62 368 --- --- --- --- PASS SPI1 6688 broad.mit.edu 37 11 47397209 47397209 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:47397209G>A uc001nfc.1 - 2 340 c.117C>T c.(115-117)CTC>CTT p.L39L SPI1_uc001nfb.1_Silent_p.L40L|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Silent_p.L33L NM_003120 NP_003111 P17947 SPI1_HUMAN hematopoietic transcription factor PU.1 isoform 39 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 Lung(87;0.0967) CATCACTGCTGAGATAGGGGT 0.597 62 134 --- --- --- --- PASS FNBP4 23360 broad.mit.edu 37 11 47776136 47776136 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:47776136C>G uc009ylv.2 - 3 547 c.394G>C c.(394-396)GAG>CAG p.E132Q FNBP4_uc001ngj.2_Missense_Mutation_p.E39Q|FNBP4_uc001ngl.2_Intron NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 132 ovary(1) 1 CCATTTGTCTCTTTGGATTGT 0.408 26 184 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48266731 48266731 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:48266731T>C uc001ngs.1 + 1 76 c.76T>C c.(76-78)TTG>CTG p.L26L NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATTTCTGTTCTTGTACACAGC 0.458 46 318 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406327 55406327 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:55406327C>G uc010rij.1 + 1 494 c.494C>G c.(493-495)CCA>CGA p.P165R NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ATCTTTGTACCATTTTGTGGC 0.373 33 230 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418433 55418433 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:55418433C>A uc001nhs.1 + 1 54 c.54C>A c.(52-54)AGC>AGA p.S18R NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TTTCTCAGAGCCCAGAGATTG 0.373 76 202 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55873189 55873189 + Missense_Mutation SNP C T T rs138370909 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:55873189C>T uc010riy.1 + 1 671 c.671C>T c.(670-672)ACC>ATC p.T224I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) ATTCTCTTTACCATCCTGAAA 0.388 HNSCC(53;0.14) 71 209 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55873190 55873190 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:55873190C>G uc010riy.1 + 1 672 c.672C>G c.(670-672)ACC>ACG p.T224T NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TTCTCTTTACCATCCTGAAAA 0.383 HNSCC(53;0.14) 69 209 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020666 56020666 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:56020666G>T uc010rjd.1 + 1 991 c.991G>T c.(991-993)GTG>TTG p.V331L NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 331 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) AAAAAAGGCAGTGAAGAAAAT 0.299 20 66 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56057802 56057802 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:56057802C>G uc010rje.1 - 1 737 c.737G>C c.(736-738)GGA>GCA p.G246A NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GATGGTGACTCCCAAGAGATG 0.358 32 176 --- --- --- --- PASS SMTNL1 219537 broad.mit.edu 37 11 57310459 57310459 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:57310459A>T uc009ymh.1 + 2 398 c.398A>T c.(397-399)AAA>ATA p.K133I NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 115 ovary(1) 1 ACTGGCAGGAAAGAAGAGACC 0.517 4 15 --- --- --- --- PASS CLP1 10978 broad.mit.edu 37 11 57428587 57428587 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:57428587C>A uc001nkw.2 + 3 1096 c.957C>A c.(955-957)GTC>GTA p.V319V CLP1_uc010rjw.1_Silent_p.V255V|CLP1_uc009yml.2_Silent_p.V319V NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 319 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 CCTTCAATGTCAAATTTTCAG 0.478 57 360 --- --- --- --- PASS OR6Q1 219952 broad.mit.edu 37 11 57799089 57799089 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:57799089A>T uc010rjz.1 + 1 665 c.665A>T c.(664-666)TAT>TTT p.Y222F OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) GCTGTGTCCTATGGCAACATC 0.557 78 145 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58034692 58034692 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:58034692C>T uc001nmq.1 - 1 1041 c.639G>A c.(637-639)GTG>GTA p.V213V NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 213 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GCAGAGCAGCCACTATGAAGG 0.577 12 33 --- --- --- --- PASS GLYATL1 92292 broad.mit.edu 37 11 58715439 58715439 + Splice_Site SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:58715439G>A uc001nnf.2 + 5 562 c.186_splice c.e5+1 p.Q62_splice uc001nng.1_Intron|GLYATL1_uc001nnh.1_Splice_Site_p.Q93_splice|GLYATL1_uc001nni.1_Splice_Site_p.Q62_splice|GLYATL1_uc001nnj.1_Splice_Site_p.Q62_splice Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) TCAAAAGCAGGTAGGCACACA 0.522 22 69 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58978605 58978605 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:58978605G>C uc001nnu.3 - 1 1890 c.1734C>G c.(1732-1734)GTC>GTG p.V578V NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 578 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GCCCGGATTTGACGCAATAGG 0.597 73 186 --- --- --- --- PASS OR5AN1 390195 broad.mit.edu 37 11 59131934 59131934 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:59131934G>C uc010rks.1 + 1 3 c.3G>C c.(1-3)ATG>ATC p.M1I NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGAGCCAATGACTGGGGGAG 0.398 18 151 --- --- --- --- PASS OSBP 5007 broad.mit.edu 37 11 59368769 59368769 + Missense_Mutation SNP T G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:59368769T>G uc001noc.1 - 5 1591 c.1111A>C c.(1111-1113)AAT>CAT p.N371H OSBP_uc009ymr.1_5'Flank NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 371 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGGCCCAAATTTTCAGGCATG 0.378 21 122 --- --- --- --- PASS OSBP 5007 broad.mit.edu 37 11 59368814 59368814 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:59368814C>G uc001noc.1 - 5 1546 c.1066G>C c.(1066-1068)GAG>CAG p.E356Q OSBP_uc009ymr.1_5'Flank NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 356 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AATTCATTCTCATCATCTTCA 0.393 21 143 --- --- --- --- PASS MS4A8B 83661 broad.mit.edu 37 11 60470904 60470904 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:60470904G>C uc001npv.2 + 3 476 c.273G>C c.(271-273)GCG>GCC p.A91A MS4A8B_uc009yne.1_Silent_p.A91A NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 91 Helical; (Potential). integral to membrane receptor activity 0 CCATCATGGCGACGGTTCTCG 0.557 39 209 --- --- --- --- PASS SLC15A3 51296 broad.mit.edu 37 11 60714117 60714117 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:60714117G>C uc001nqn.2 - 2 969 c.735C>G c.(733-735)CTC>CTG p.L245L SLC15A3_uc001nqo.2_Silent_p.L245L NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 245 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 GGGTGGCAAAGAGGAAGATGA 0.572 26 164 --- --- --- --- PASS FTH1 2495 broad.mit.edu 37 11 61732578 61732578 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:61732578C>T uc001nsu.2 - 3 503 c.268G>A c.(268-270)GAC>AAC p.D90N NM_002032 NP_002023 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 90 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding ovary(1) 1 Iron Dextran(DB00893) TCATCACAGTCTGGTTTCTGA 0.443 51 486 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62288670 62288670 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:62288670G>C uc001ntl.2 - 5 13519 c.13219C>G c.(13219-13221)CTG>GTG p.L4407V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4407 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACTTTGGGCAGAGAGACATCC 0.473 65 404 --- --- --- --- PASS ZBTB3 79842 broad.mit.edu 37 11 62519630 62519630 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:62519630C>G uc001nuz.2 - 2 1779 c.1657G>C c.(1657-1659)GAC>CAC p.D553H NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 CTCTGTCTGTCTGCTGTTGGG 0.552 30 121 --- --- --- --- PASS TAF6L 10629 broad.mit.edu 37 11 62554031 62554031 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:62554031G>C uc001nvc.2 + 11 1233 c.1132G>C c.(1132-1134)GAG>CAG p.E378Q TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 378 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 CCAGGCAGCAGAGCCCAACAG 0.612 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 20 --- --- --- --- PASS SLC3A2 6520 broad.mit.edu 37 11 62650436 62650436 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:62650436T>C uc001nwd.2 + 6 1182 c.958T>C c.(958-960)TCC>CCC p.S320P SLC3A2_uc001nwb.2_Missense_Mutation_p.S351P|SLC3A2_uc001nwc.2_Missense_Mutation_p.S321P|SLC3A2_uc001nwe.2_Missense_Mutation_p.S289P|SLC3A2_uc001nwf.2_Missense_Mutation_p.S258P|SLC3A2_uc001nwg.2_Missense_Mutation_p.S219P|SLC3A2_uc010rml.1_RNA NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 320 Extracellular (Potential). S -> F (in Ref. 5; AAA35489). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 CTCGTGGTTCTCCACTCAGGT 0.532 50 141 --- --- --- --- PASS SLC22A25 387601 broad.mit.edu 37 11 62933655 62933655 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:62933655C>G uc001nwr.1 - 7 1146 c.1146G>C c.(1144-1146)CAG>CAC p.Q382H SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_3'UTR NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 382 Helical; Name=8; (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CAAAGAGAGTCTGCAACAGGA 0.498 23 78 --- --- --- --- PASS LGALS12 85329 broad.mit.edu 37 11 63276044 63276044 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:63276044C>G uc001nxa.2 + 2 496 c.155C>G c.(154-156)ACG>AGG p.T52R LGALS12_uc001nxb.2_Missense_Mutation_p.T52R|LGALS12_uc001nxc.2_Missense_Mutation_p.T52R|LGALS12_uc001nxd.2_5'UTR|LGALS12_uc001nxe.2_5'UTR|LGALS12_uc009yot.2_Missense_Mutation_p.D14E NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform 52 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 TATGTCACGACGATTTTTGGA 0.547 17 76 --- --- --- --- PASS STIP1 10963 broad.mit.edu 37 11 63961973 63961973 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:63961973C>G uc001nyk.1 + 4 531 c.384C>G c.(382-384)TTC>TTG p.F128L STIP1_uc001nyj.2_Missense_Mutation_p.F128L|STIP1_uc010rnb.1_Missense_Mutation_p.F104L NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 128 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 TGAACCCTTTCAACATGCCTA 0.438 4 143 --- --- --- --- PASS STIP1 10963 broad.mit.edu 37 11 63963170 63963170 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:63963170A>T uc001nyk.1 + 5 704 c.557A>T c.(556-558)GAT>GTT p.D186V STIP1_uc001nyj.2_Missense_Mutation_p.D186V|STIP1_uc010rnb.1_Missense_Mutation_p.D162V NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 186 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 CTTGGGGTCGATCTGGGCAGT 0.468 10 55 --- --- --- --- PASS SLC22A20 440044 broad.mit.edu 37 11 64990981 64990981 + Missense_Mutation SNP T G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:64990981T>G uc010roc.1 + 7 976 c.973T>G c.(973-975)TCC>GCC p.S325A SLC22A20_uc010rob.1_Missense_Mutation_p.L268R NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 325 Cytoplasmic (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 TGTCTGCACCTCCAACTCAAT 0.542 7 56 --- --- --- --- PASS FRMD8 83786 broad.mit.edu 37 11 65161798 65161798 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:65161798C>G uc001odu.3 + 6 675 c.483C>G c.(481-483)TAC>TAG p.Y161* FRMD8_uc009yqj.2_Nonsense_Mutation_p.Y105*|FRMD8_uc010rof.1_Nonsense_Mutation_p.Y127* NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 161 FERM. cytoskeleton binding lung(1)|pancreas(1) 2 CTGCACGGTACCCGTGCGACG 0.701 3 8 --- --- --- --- PASS LTBP3 4054 broad.mit.edu 37 11 65308030 65308030 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:65308030C>T uc001oej.2 - 22 3302 c.3033G>A c.(3031-3033)GTG>GTA p.V1011V LTBP3_uc001oef.2_Silent_p.V14V|LTBP3_uc001oeg.2_Silent_p.V14V|LTBP3_uc001oeh.2_Silent_p.V441V|LTBP3_uc010roi.1_Silent_p.V894V|LTBP3_uc001oei.2_Silent_p.V1011V|LTBP3_uc010roj.1_Silent_p.V712V|LTBP3_uc010rok.1_Silent_p.V922V NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 1011 EGF-like 10; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 GCTGCGTGTTCACGCACTTGC 0.642 OREG0021080 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 118 --- --- --- --- PASS SSH3 54961 broad.mit.edu 37 11 67074336 67074336 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:67074336C>T uc001okj.2 + 4 545 c.367C>T c.(367-369)CCC>TCC p.P123S SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_5'UTR NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 123 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ACCCCGGCCTCCCCGGCTCCG 0.652 8 40 --- --- --- --- PASS CHKA 1119 broad.mit.edu 37 11 67832066 67832066 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:67832066G>C uc001onj.2 - 10 1372 c.1158C>G c.(1156-1158)TTC>TTG p.F386L CHKA_uc001onk.2_Missense_Mutation_p.F368L NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 386 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) AGTCATTTTGGAATGCAGGCA 0.294 3 106 --- --- --- --- PASS SUV420H1 51111 broad.mit.edu 37 11 67934503 67934503 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:67934503G>C uc001onm.1 - 10 1376 c.1120C>G c.(1120-1122)CAA>GAA p.Q374E SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.Q202E|SUV420H1_uc009ysf.2_Missense_Mutation_p.Q134E|SUV420H1_uc001ono.1_Missense_Mutation_p.Q374E|SUV420H1_uc001onp.2_Missense_Mutation_p.Q374E|SUV420H1_uc010rqa.1_Missense_Mutation_p.Q351E|SUV420H1_uc001onq.2_Missense_Mutation_p.Q374E NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTGACAGATTGACTGTCTGAA 0.353 13 135 --- --- --- --- PASS SUV420H1 51111 broad.mit.edu 37 11 67953375 67953375 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:67953375C>G uc001onm.1 - 3 437 c.181G>C c.(181-183)GAA>CAA p.E61Q SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.E61Q|SUV420H1_uc001onp.2_Missense_Mutation_p.E61Q|SUV420H1_uc010rqa.1_Missense_Mutation_p.E61Q|SUV420H1_uc001onq.2_Missense_Mutation_p.E61Q NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTCTGTCCTTCAAATCCCGAG 0.408 25 130 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68855388 68855388 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:68855388G>A uc001oos.2 + 25 2342 c.2226G>A c.(2224-2226)CTG>CTA p.L742L TPCN2_uc010rqg.1_Silent_p.L560L|TPCN2_uc001oot.2_RNA NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 742 Cytoplasmic (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGAGAGGCTGAGCCAGCACC 0.642 4 19 --- --- --- --- PASS FADD 8772 broad.mit.edu 37 11 70049751 70049751 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:70049751C>T uc001opm.2 + 1 483 c.186C>T c.(184-186)CTC>CTT p.L62L NM_003824 NP_003815 Q13158 FADD_HUMAN Fas-associated via death domain 62 DED. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding ovary(1)|lung(1)|pancreas(1) 3 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ACACCGAGCTCCTGCGCGAGC 0.567 14 48 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70333442 70333442 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:70333442C>G uc001oqc.2 - 21 3034 c.2956G>C c.(2956-2958)GAA>CAA p.E986Q SHANK2_uc010rqn.1_Missense_Mutation_p.E398Q|SHANK2_uc001opz.2_Missense_Mutation_p.E391Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 607 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TATGGGTTTTCTGGCATCTGG 0.602 28 253 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71175151 71175151 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:71175151C>T uc001oqn.2 + 5 496 c.370C>T c.(370-372)CGC>TGC p.R124C NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 124 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGCAACTACCGCGAGCTGCG 0.607 11 24 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71724238 71724238 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:71724238C>T uc001orl.1 - 15 4483 c.4311G>A c.(4309-4311)CTG>CTA p.L1437L NUMA1_uc009ysw.1_Silent_p.L1000L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L1437L|NUMA1_uc001orn.2_Silent_p.L1000L|NUMA1_uc009ysx.1_Silent_p.L1437L|NUMA1_uc001oro.1_Silent_p.L1437L NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1437 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TCAGCATGCTCAGCTGCTCTG 0.637 T RARA APL 26 142 --- --- --- --- PASS INPPL1 3636 broad.mit.edu 37 11 71940529 71940529 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:71940529C>G uc001osf.2 + 6 827 c.680C>G c.(679-681)TCA>TGA p.S227* INPPL1_uc001osg.2_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 227 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 AAGGTCCTGTCAGGCCTGGAG 0.572 28 166 --- --- --- --- PASS CHCHD8 51287 broad.mit.edu 37 11 73584241 73584241 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:73584241G>C uc001ouj.2 - 2 288 c.183C>G c.(181-183)TTC>TTG p.F61L CHCHD8_uc009ytw.2_RNA NM_016565 NP_057649 Q9NYJ1 CHCH8_HUMAN coiled-coil-helix-coiled-coil-helix domain 61 CHCH. 0 Breast(11;7.42e-05) TGCAATCCTTGAACGCCTGCA 0.617 14 80 --- --- --- --- PASS SLCO2B1 11309 broad.mit.edu 37 11 74862428 74862428 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:74862428T>C uc001owb.2 + 1 389 c.2T>C c.(1-3)ATG>ACG p.M1T SLCO2B1_uc010rrp.1_Intron|SLCO2B1_uc010rrq.1_Missense_Mutation_p.M1T|SLCO2B1_uc010rrr.1_Missense_Mutation_p.M1T|SLCO2B1_uc010rrs.1_5'UTR|SLCO2B1_uc001owc.2_5'UTR NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 1 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) CCAGCAGTCATGGGACCCAGG 0.552 8 27 --- --- --- --- PASS C11orf82 220042 broad.mit.edu 37 11 82642927 82642927 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:82642927C>G uc001ozt.2 + 6 791 c.547C>G c.(547-549)CAA>GAA p.Q183E C11orf82_uc010rsr.1_Translation_Start_Site|C11orf82_uc010rss.1_Translation_Start_Site|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 183 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 CTACTTCCATCAACTTTTGCA 0.418 42 299 --- --- --- --- PASS C11orf82 220042 broad.mit.edu 37 11 82643305 82643305 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:82643305G>C uc001ozt.2 + 6 1169 c.925G>C c.(925-927)GAA>CAA p.E309Q C11orf82_uc010rsr.1_Missense_Mutation_p.E8Q|C11orf82_uc010rss.1_Missense_Mutation_p.E8Q|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 309 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 GAGTACAGCAGAAAAGTTGGG 0.418 28 142 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83170885 83170885 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:83170885C>A uc001paj.2 - 23 2892 c.2589G>T c.(2587-2589)TGG>TGT p.W863C DLG2_uc001pai.2_Missense_Mutation_p.W742C|DLG2_uc010rsy.1_Missense_Mutation_p.W812C|DLG2_uc010rsz.1_Missense_Mutation_p.W859C|DLG2_uc010rta.1_Missense_Mutation_p.W845C|DLG2_uc001pak.2_Missense_Mutation_p.W968C|DLG2_uc010rsw.1_Missense_Mutation_p.W327C|DLG2_uc010rsx.1_Missense_Mutation_p.W340C NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 863 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTGAGGGAATCCAGATGAAAG 0.363 24 85 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83641521 83641521 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:83641521G>A uc001paj.2 - 10 1334 c.1031C>T c.(1030-1032)CCG>CTG p.P344L DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.P311L|DLG2_uc010rsz.1_Missense_Mutation_p.P344L|DLG2_uc010rta.1_Missense_Mutation_p.P344L|DLG2_uc001pak.2_Missense_Mutation_p.P449L|DLG2_uc010rtb.1_Missense_Mutation_p.P311L|DLG2_uc001pal.1_Missense_Mutation_p.P344L|DLG2_uc001pam.1_Missense_Mutation_p.P383L NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 344 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AACAGGTTCCGGAGGCCTGGT 0.458 17 124 --- --- --- --- PASS TYR 7299 broad.mit.edu 37 11 88911272 88911272 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:88911272G>A uc001pcs.2 + 1 233 c.151G>A c.(151-153)GGC>AGC p.G51S NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 51 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CCAGCTTTCAGGCAGAGGTTC 0.562 Oculocutaneous_Albinism 7 70 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89073286 89073286 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:89073286C>T uc001pct.2 - 15 1630 c.1391G>A c.(1390-1392)AGA>AAA p.R464K NOX4_uc009yvr.2_Missense_Mutation_p.R439K|NOX4_uc001pcu.2_Missense_Mutation_p.R390K|NOX4_uc001pcw.2_Missense_Mutation_p.R157K|NOX4_uc001pcx.2_Missense_Mutation_p.R117K|NOX4_uc001pcv.2_Missense_Mutation_p.R424K|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.R228K|NOX4_uc010rtv.1_Missense_Mutation_p.R400K|NOX4_uc009yvq.2_Missense_Mutation_p.R440K NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 464 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CTGGATATCTCTGCATACCCA 0.338 29 185 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89135642 89135642 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:89135642C>G uc001pct.2 - 9 937 c.698G>C c.(697-699)AGC>ACC p.S233T NOX4_uc009yvr.2_Missense_Mutation_p.S208T|NOX4_uc001pcu.2_Missense_Mutation_p.S159T|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.S233T|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.S67T|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.S209T|NOX4_uc009yvq.2_Missense_Mutation_p.S209T|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 233 Extracellular (Potential).|Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) ATTCTGAGAGCTGGTTCGGTT 0.393 39 257 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89882195 89882195 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:89882195G>C uc001pdf.3 + 4 512 c.403G>C c.(403-405)GAA>CAA p.E135Q NAALAD2_uc009yvx.2_Missense_Mutation_p.E135Q|NAALAD2_uc009yvy.2_Missense_Mutation_p.E135Q|NAALAD2_uc001pdd.2_Missense_Mutation_p.E135Q|NAALAD2_uc001pde.2_Missense_Mutation_p.E135Q NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 135 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ATCATACCTTGAACCACCACC 0.318 29 275 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101834523 101834523 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:101834523G>A uc001pgm.2 + 6 3027 c.2757G>A c.(2755-2757)CCG>CCA p.P919P KIAA1377_uc001pgn.2_Silent_p.P875P|KIAA1377_uc010run.1_Silent_p.P720P|KIAA1377_uc009yxa.1_Silent_p.P720P NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 919 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAGTTATCCGTCTGTGACTC 0.403 38 253 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105797515 105797515 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:105797515C>T uc001pix.2 + 13 2342 c.1896C>T c.(1894-1896)CTC>CTT p.L632L GRIA4_uc001piw.2_Silent_p.L632L NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 632 Helical; (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTTTACACTCATCATTATAT 0.338 32 217 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106888687 106888687 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:106888687G>A uc001pjg.1 - 1 485 c.95C>T c.(94-96)TCT>TTT p.S32F GUCY1A2_uc010rvo.1_Missense_Mutation_p.S32F|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S32F NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 32 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) GCAGAGCCTAGACAGGGGGCA 0.532 4 26 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107263540 107263540 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:107263540G>C uc010rvp.1 - 11 1729 c.1699C>G c.(1699-1701)CTG>GTG p.L567V CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 567 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TGTGATTCCAGAGATTTTCCG 0.388 14 88 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108383146 108383146 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:108383146G>A uc001pkk.2 - 6 3199 c.3088C>T c.(3088-3090)CTC>TTC p.L1030F EXPH5_uc010rvy.1_Missense_Mutation_p.L842F|EXPH5_uc010rvz.1_Missense_Mutation_p.L874F|EXPH5_uc010rwa.1_Missense_Mutation_p.L954F NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1030 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCATGTATGAGAAAACTGCTT 0.408 11 130 --- --- --- --- PASS ANKK1 255239 broad.mit.edu 37 11 113265686 113265686 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:113265686G>A uc001pny.2 + 3 610 c.516G>A c.(514-516)CAG>CAA p.Q172Q NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 172 Protein kinase. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GGATGGAACAGTCCACCCGGA 0.567 7 26 --- --- --- --- PASS ZBTB16 7704 broad.mit.edu 37 11 113934591 113934591 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:113934591C>T uc001pop.2 + 2 833 c.569C>T c.(568-570)TCA>TTA p.S190L ZBTB16_uc001poo.1_Missense_Mutation_p.S190L|ZBTB16_uc001poq.2_Missense_Mutation_p.S190L NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 190 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GTCTCCACTTCATTTGGTCTT 0.567 6 101 --- --- --- --- PASS PCSK7 9159 broad.mit.edu 37 11 117090469 117090469 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:117090469G>A uc001pqr.2 - 10 1362 c.1161C>T c.(1159-1161)ACC>ACT p.T387T NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 387 Catalytic.|Extracellular (Potential). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) CCCAGTCAGTGGTCACCTGGA 0.418 T IGH@ MLCLS 3 53 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117335878 117335878 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:117335878C>G uc001prh.1 - 17 3227 c.3225G>C c.(3223-3225)CAG>CAC p.Q1075H NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1015 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGACACCGTTCTGCAGCTCCT 0.483 4 114 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117351983 117351983 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:117351983G>C uc001prh.1 - 13 2744 c.2742C>G c.(2740-2742)CTC>CTG p.L914L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 854 Extracellular (Potential).|Ig-like C2-type 9. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CAGCGGGCTTGAGCTGGGAGA 0.592 10 79 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117389208 117389208 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:117389208C>G uc001prh.1 - 7 1665 c.1663G>C c.(1663-1665)GAA>CAA p.E555Q DSCAML1_uc001pri.1_Missense_Mutation_p.E359Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 495 Extracellular (Potential).|Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCCTGATATTCAGCACTGCCC 0.522 7 176 --- --- --- --- PASS TMPRSS4 56649 broad.mit.edu 37 11 117973862 117973862 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:117973862C>G uc010rxo.1 + 4 495 c.204C>G c.(202-204)CTC>CTG p.L68L TMPRSS4_uc010rxp.1_Silent_p.L68L|TMPRSS4_uc010rxq.1_5'UTR|TMPRSS4_uc010rxr.1_Silent_p.L43L|TMPRSS4_uc010rxs.1_Silent_p.L28L|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.L43L NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 68 Extracellular (Potential).|LDL-receptor class A. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GGCAGCCTCTCCACTTCATCC 0.592 5 283 --- --- --- --- PASS UBE4A 9354 broad.mit.edu 37 11 118247311 118247311 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:118247311G>A uc001psw.2 + 10 1602 c.1473G>A c.(1471-1473)TTG>TTA p.L491L UBE4A_uc001psv.2_Silent_p.L498L NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 491 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AAACCTGTTTGATCCCAGCTG 0.418 85 183 --- --- --- --- PASS PHLDB1 23187 broad.mit.edu 37 11 118521218 118521218 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:118521218C>T uc001ptr.1 + 21 4193 c.3840C>T c.(3838-3840)TTC>TTT p.F1280F PHLDB1_uc001pts.2_Silent_p.F1280F|PHLDB1_uc001ptt.2_Silent_p.F1233F|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.F1095F|PHLDB1_uc001ptw.1_Silent_p.F635F|PHLDB1_uc009zai.1_Silent_p.F316F|PHLDB1_uc001ptx.1_Silent_p.F316F NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 1280 PH. 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGTTTGTCTTCGACCGGCTCA 0.572 22 108 --- --- --- --- PASS HYOU1 10525 broad.mit.edu 37 11 118919196 118919196 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:118919196C>G uc001puu.2 - 19 2438 c.2245G>C c.(2245-2247)GAG>CAG p.E749Q HYOU1_uc001put.2_Missense_Mutation_p.E714Q|HYOU1_uc010ryu.1_Missense_Mutation_p.E707Q|HYOU1_uc010ryv.1_Missense_Mutation_p.E638Q|HYOU1_uc001pux.3_Missense_Mutation_p.E749Q|HYOU1_uc010ryw.1_RNA NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 749 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) ACCTGGGTCTCAAATATGAAT 0.562 22 160 --- --- --- --- PASS HYOU1 10525 broad.mit.edu 37 11 118919543 118919543 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:118919543C>G uc001puu.2 - 18 2241 c.2048G>C c.(2047-2049)GGA>GCA p.G683A HYOU1_uc001put.2_Missense_Mutation_p.G648A|HYOU1_uc010ryu.1_Missense_Mutation_p.G641A|HYOU1_uc010ryv.1_Missense_Mutation_p.G572A|HYOU1_uc001pux.3_Missense_Mutation_p.G683A|HYOU1_uc010ryw.1_RNA NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 683 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CTTCTTCTCTCCCTCTGGGGC 0.612 6 83 --- --- --- --- PASS C2CD2L 9854 broad.mit.edu 37 11 118984642 118984642 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:118984642G>A uc001pvo.2 + 12 1926 c.1567G>A c.(1567-1569)GTG>ATG p.V523M C2CD2L_uc001pvn.2_Missense_Mutation_p.V524M NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 523 integral to membrane 0 CAGTGGGCGGGTGGCCAAGAA 0.597 17 66 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119029033 119029033 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:119029033C>G uc001pvs.2 + 10 1494 c.1158C>G c.(1156-1158)CTC>CTG p.L386L ABCG4_uc009zar.2_Silent_p.L386L NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 386 Cytoplasmic (Potential).|ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGTCCATCCTCAGGGACACGG 0.582 61 305 --- --- --- --- PASS POU2F3 25833 broad.mit.edu 37 11 120178198 120178198 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:120178198G>A uc001pxc.2 + 9 882 c.780G>A c.(778-780)CCG>CCA p.P260P POU2F3_uc010rzk.1_Silent_p.P214P|POU2F3_uc010rzl.1_Silent_p.P190P|POU2F3_uc001pxe.1_Silent_p.P45P NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 260 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) AGTCCTCTCCGTCAGACCCCT 0.577 27 157 --- --- --- --- PASS ARHGEF12 23365 broad.mit.edu 37 11 120346150 120346150 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:120346150G>C uc001pxl.1 + 33 3218 c.3211G>C c.(3211-3213)GAT>CAT p.D1071H ARHGEF12_uc009zat.2_Missense_Mutation_p.D1052H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.D968H|ARHGEF12_uc009zau.1_Missense_Mutation_p.D968H NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1071 PH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATCTACAGCTGATAGCAAACA 0.408 T MLL AML 31 213 --- --- --- --- PASS BSX 390259 broad.mit.edu 37 11 122850019 122850019 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:122850019T>A uc010rzs.1 - 2 409 c.409A>T c.(409-411)ACG>TCG p.T137S NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 137 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CGTTCTGGCGTGGACAGGTAG 0.662 17 121 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123894542 123894542 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:123894542T>A uc010sad.1 + 1 823 c.823T>A c.(823-825)TAC>AAC p.Y275N NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGCCATTTTCTACACTGTGCT 0.488 33 168 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124766924 124766924 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:124766924C>A uc001qbg.2 - 2 444 c.304G>T c.(304-306)GGC>TGC p.G102C ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Intron|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 102 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AGGGCCTGGCCATCGTGGGCA 0.667 10 38 --- --- --- --- PASS STT3A 3703 broad.mit.edu 37 11 125483013 125483013 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:125483013A>G uc001qcd.2 + 13 1605 c.1495A>G c.(1495-1497)AGG>GGG p.R499G STT3A_uc001qce.2_Missense_Mutation_p.R499G|STT3A_uc010sbg.1_Missense_Mutation_p.R407G|STT3A_uc009zbn.2_Missense_Mutation_p.R221G NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 499 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GGATGGCAGTAGGATCATATT 0.478 50 276 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134086933 134086933 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:134086933G>C uc001qhd.1 - 3 885 c.279C>G c.(277-279)TTC>TTG p.F93L NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 93 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CAAAATGATAGAACAATGCCA 0.408 17 107 --- --- --- --- PASS THYN1 29087 broad.mit.edu 37 11 134118800 134118800 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:134118800G>C uc001qhf.2 - 7 636 c.534C>G c.(532-534)CTC>CTG p.L178L THYN1_uc001qhg.2_Silent_p.L178L|THYN1_uc001qhh.2_Silent_p.L178L|THYN1_uc001qhi.2_Intron|THYN1_uc001qhj.2_Intron NM_001037305 NP_001032382 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 isoform 1 178 nucleus 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) GATAGGATTTGAGCTCAGCCA 0.413 44 213 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 247613 247613 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:247613G>C uc001qhw.1 + 1 181 c.175G>C c.(175-177)GAG>CAG p.E59Q IQSEC3_uc001qhu.1_Missense_Mutation_p.E59Q|IQSEC3_uc001qht.1_Missense_Mutation_p.E144Q|uc001qhv.1_RNA NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 362 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) ACCCACGGCCGAGAGCCTGGC 0.677 7 23 --- --- --- --- PASS ADIPOR2 79602 broad.mit.edu 37 12 1889746 1889746 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:1889746C>T uc001qjm.2 + 5 790 c.593C>T c.(592-594)TCA>TTA p.S198L ADIPOR2_uc001qjn.2_Missense_Mutation_p.S198L NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 198 Helical; Name=2; (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) CTTTCTTTTTCATGGCTCTTC 0.438 150 647 --- --- --- --- PASS C12orf32 83695 broad.mit.edu 37 12 2994677 2994677 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:2994677G>A uc001qlh.2 + 2 313 c.145G>A c.(145-147)GAC>AAC p.D49N TULP3_uc010sef.1_Intron|C12orf32_uc010see.1_Intron|C12orf32_uc001qli.2_Intron NR_027363 RecName: Full=Uncharacterized protein C12orf32; 0 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CAAGCCCATTGACCACAGCAC 0.413 6 151 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5756892 5756892 + Splice_Site SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:5756892C>A uc001qnm.2 - 16 1692 c.1620_splice c.e16+1 p.M540_splice NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AAGGAAATTACCATGAATAAG 0.443 4 38 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5756893 5756893 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:5756893C>A uc001qnm.2 - 16 1692 c.1620G>T c.(1618-1620)ATG>ATT p.M540I NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 545 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AGGAAATTACCATGAATAAGA 0.443 4 38 --- --- --- --- PASS IFFO1 25900 broad.mit.edu 37 12 6657950 6657950 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:6657950G>A uc001qpd.1 - 5 1147 c.1113C>T c.(1111-1113)GCC>GCT p.A371A IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.A11A|IFFO1_uc001qpb.1_Silent_p.A48A|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.A382A|IFFO1_uc001qpf.1_Silent_p.A374A|IFFO1_uc001qoz.1_Silent_p.A11A|IFFO1_uc001qpc.1_Silent_p.A374A|IFFO1_uc001qpg.2_Silent_p.A11A NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 371 intermediate filament 0 CCTCCTCGACGGCAGCCTTGC 0.642 5 66 --- --- --- --- PASS LAG3 3902 broad.mit.edu 37 12 6886553 6886553 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:6886553C>G uc001qqt.3 + 6 1530 c.1181C>G c.(1180-1182)TCA>TGA p.S394* LAG3_uc001qqu.2_Nonsense_Mutation_p.S224* NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 394 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane antigen binding|MHC class II protein binding 0 AGGAGTTTCTCAGGACCTTGG 0.582 37 347 --- --- --- --- PASS TPI1 7167 broad.mit.edu 37 12 6976808 6976808 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:6976808C>T uc001qrk.2 + 1 116 c.78C>T c.(76-78)ATC>ATT p.I26I TPI1_uc010sfo.1_5'Flank NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 26 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 GGGAGCTCATCGGCACTCTGA 0.572 4 66 --- --- --- --- PASS TPI1 7167 broad.mit.edu 37 12 6978455 6978455 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:6978455G>C uc001qrk.2 + 4 396 c.358G>C c.(358-360)GAG>CAG p.E120Q TPI1_uc010sfo.1_Missense_Mutation_p.E38Q NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 120 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 TGCTCTGGCAGAGGGACTCGG 0.502 OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 851 --- --- --- --- PASS C1RL 51279 broad.mit.edu 37 12 7249728 7249728 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:7249728C>G uc001qsn.2 - 6 740 c.723G>C c.(721-723)CAG>CAC p.Q241H C1RL_uc009zft.2_Missense_Mutation_p.R257T NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 241 complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity pancreas(1) 1 TCGTCTGATTCTGGGCAATGG 0.627 10 97 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7651770 7651770 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:7651770C>G uc001qsz.3 - 4 600 c.472G>C c.(472-474)GAA>CAA p.E158Q CD163_uc001qta.3_Missense_Mutation_p.E158Q|CD163_uc009zfw.2_Missense_Mutation_p.E158Q NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 158 Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 AGCCTCATTTCCAAATTGGAT 0.413 47 714 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7803718 7803718 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:7803718C>A uc001qtb.2 - 4 496 c.462G>T c.(460-462)AGG>AGT p.R154S APOBEC1_uc001qtc.2_Missense_Mutation_p.R109S|APOBEC1_uc010sgf.1_Missense_Mutation_p.R154S NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 154 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 TGACAAAATTCCTCCAGCAGT 0.448 14 263 --- --- --- --- PASS NECAP1 25977 broad.mit.edu 37 12 8248226 8248226 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:8248226C>A uc001qtx.2 + 7 784 c.706C>A c.(706-708)CCT>ACT p.P236T NECAP1_uc001qty.2_Missense_Mutation_p.P94T NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 236 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) TTCTCCTGCTCCTGTCACGAC 0.373 15 317 --- --- --- --- PASS KLRB1 3820 broad.mit.edu 37 12 9747874 9747874 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:9747874G>C uc010sgt.1 - 6 736 c.674C>G c.(673-675)TCT>TGT p.S225C NM_002258 NP_002249 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, 225 Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TCATAGTCAAGAGTCAGGATA 0.378 30 323 --- --- --- --- PASS KLRC1 3821 broad.mit.edu 37 12 10603638 10603638 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:10603638A>G uc001qyl.2 - 2 282 c.118T>C c.(118-120)TAT>CAT p.Y40H KLRC1_uc009zhm.1_Missense_Mutation_p.Y40H|KLRC1_uc001qym.2_Missense_Mutation_p.Y40H|KLRC1_uc001qyn.2_Missense_Mutation_p.Y40H|KLRC1_uc001qyo.2_Missense_Mutation_p.Y40H NM_002259 NP_002250 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, 40 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 AATTCCGCATAGGTTATTTCC 0.378 49 473 --- --- --- --- PASS TAS2R9 50835 broad.mit.edu 37 12 10961880 10961880 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:10961880C>G uc001qyx.2 - 1 888 c.795G>C c.(793-795)ATG>ATC p.M265I TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 265 Helical; Name=7; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 TGTCACCAATCATCAACACTA 0.403 27 303 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174300 11174300 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:11174300G>C uc010shj.1 - 1 871 c.871C>G c.(871-873)CTT>GTT p.L291V 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 19 291 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 AAAACTGAAAGAAAGGTCTGT 0.428 33 248 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174553 11174553 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:11174553G>C uc010shj.1 - 1 618 c.618C>G c.(616-618)CTC>CTG p.L206L 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 19 206 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 GCATCTTCTTGAGATGTTTAC 0.413 18 544 --- --- --- --- PASS ETV6 2120 broad.mit.edu 37 12 12006363 12006363 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:12006363G>A uc001qzz.2 + 4 605 c.331G>A c.(331-333)GAT>AAT p.D111N NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 111 PNT. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTTTCCAGGTGATGTGCTCTA 0.453 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 33 416 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13906545 13906545 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:13906545T>A uc001rbt.2 - 3 895 c.716A>T c.(715-717)TAC>TTC p.Y239F NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 239 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCAAAGATGTAGGTGGCTTC 0.512 57 190 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14796593 14796593 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:14796593C>G uc001rcd.2 - 17 1982 c.1845G>C c.(1843-1845)CTG>CTC p.L615L NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 615 Cytoplasmic (Potential).|Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TGGTAGATTTCAGACGACCAT 0.398 63 371 --- --- --- --- PASS RERG 85004 broad.mit.edu 37 12 15262294 15262294 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:15262294C>G uc001rcs.2 - 4 490 c.350G>C c.(349-351)GGA>GCA p.G117A RERG_uc001rct.2_Missense_Mutation_p.G117A|RERG_uc010shu.1_Missense_Mutation_p.G98A NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 117 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 AGCTTTGTTTCCAACCAAGAT 0.473 58 362 --- --- --- --- PASS PLCZ1 89869 broad.mit.edu 37 12 18889229 18889229 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:18889229G>T uc010sid.1 - 3 252 c.61C>A c.(61-63)CTA>ATA p.L21I PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_5'UTR|CAPZA3_uc001rdy.2_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 21 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GTTTTTTCTAGGTTAATTTTT 0.338 22 67 --- --- --- --- PASS RASSF8 11228 broad.mit.edu 37 12 26217997 26217997 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:26217997G>C uc001rgx.2 + 3 891 c.670G>C c.(670-672)GAA>CAA p.E224Q RASSF8_uc001rgy.2_Missense_Mutation_p.E224Q|RASSF8_uc001rgz.2_Missense_Mutation_p.E224Q|RASSF8_uc009zjd.1_Missense_Mutation_p.E224Q|RASSF8_uc009zje.1_Missense_Mutation_p.E224Q NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 224 Glu-rich. signal transduction 0 Colorectal(261;0.0847) TGAGGAGGAAGAATTCTGGGA 0.328 19 146 --- --- --- --- PASS TM7SF3 51768 broad.mit.edu 37 12 27135731 27135731 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:27135731G>C uc010sjl.1 - 7 1168 c.930C>G c.(928-930)TTC>TTG p.F310L NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 310 Phe-rich.|Helical; (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) TGTGTCCAAAGAAACAAATGA 0.368 7 40 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29639178 29639178 + Splice_Site SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:29639178C>G uc001rix.1 - 8 995 c.995_splice c.e8+1 p.I332_splice NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TAGAACCACACATACCCTTTC 0.428 19 128 --- --- --- --- PASS PKP2 5318 broad.mit.edu 37 12 32945394 32945394 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:32945394G>T uc001rlj.3 - 14 2725 c.2610C>A c.(2608-2610)AGC>AGA p.S870R PKP2_uc001rlk.3_Missense_Mutation_p.S826R|PKP2_uc010skj.1_Missense_Mutation_p.S823R NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 870 cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGCAGTCCGGCTGTTGACAA 0.398 43 123 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40158639 40158639 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:40158639G>C uc010skm.1 - 8 1518 c.1467C>G c.(1465-1467)TTC>TTG p.F489L C12orf40_uc009zjv.1_Intron NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 489 Extracellular (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) CTTCTGTTTTGAACTTGGTTT 0.328 HNSCC(50;0.14) 9 90 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40637414 40637414 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:40637414A>G uc001rmg.3 + 7 890 c.769A>G c.(769-771)ATG>GTG p.M257V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 257 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGTGGAAGCTATGAAAGCATT 0.363 39 219 --- --- --- --- PASS PUS7L 83448 broad.mit.edu 37 12 44148331 44148331 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:44148331C>A uc001rnq.3 - 2 1207 c.718G>T c.(718-720)GAC>TAC p.D240Y PUS7L_uc001rnr.3_Missense_Mutation_p.D240Y|PUS7L_uc001rns.3_Missense_Mutation_p.D240Y|PUS7L_uc009zkb.2_Intron NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 240 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTTCTGTGGTCTTTGTTTGTA 0.328 32 187 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 44913929 44913929 + Silent SNP C A A rs139052675 by1000genomes TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:44913929C>A uc001rog.2 - 19 2854 c.2259G>T c.(2257-2259)CCG>CCT p.P753P NELL2_uc001rof.3_Silent_p.P752P|NELL2_uc001roh.2_Silent_p.P753P|NELL2_uc009zkd.2_Silent_p.P705P|NELL2_uc010skz.1_Silent_p.P803P|NELL2_uc010sla.1_Silent_p.P776P NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 753 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TGACACAGCGCGGGCAGCACT 0.537 6 52 --- --- --- --- PASS ANO6 196527 broad.mit.edu 37 12 45744461 45744461 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:45744461C>G uc001roo.2 + 7 1102 c.767C>G c.(766-768)TCA>TGA p.S256* ANO6_uc010sld.1_Nonsense_Mutation_p.S256*|ANO6_uc010sle.1_Nonsense_Mutation_p.S256*|ANO6_uc010slf.1_Nonsense_Mutation_p.S277*|ANO6_uc010slg.1_Nonsense_Mutation_p.S238* NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 256 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 CGCCGTCAGTCAGAGGATCCC 0.443 7 46 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46231199 46231199 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:46231199A>C uc001ros.1 + 9 1119 c.1119A>C c.(1117-1119)AGA>AGC p.R373S ARID2_uc001ror.2_Missense_Mutation_p.R373S|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.R19S|ARID2_uc001rot.1_Missense_Mutation_p.R19S NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 373 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TAAAGATGAGAGGTGAGTTTT 0.308 65 137 --- --- --- --- PASS FAM113B 91523 broad.mit.edu 37 12 47629398 47629398 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:47629398G>C uc001rpn.2 + 4 1283 c.552G>C c.(550-552)CAG>CAC p.Q184H FAM113B_uc010slj.1_Missense_Mutation_p.Q64H|FAM113B_uc001rpq.2_Missense_Mutation_p.Q184H NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 184 hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) TCCGGCGGCAGAAGGCCACCT 0.582 3 54 --- --- --- --- PASS WNT1 7471 broad.mit.edu 37 12 49375060 49375060 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:49375060C>A uc001rsu.2 + 4 948 c.750C>A c.(748-750)TTC>TTA p.F250L NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 250 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) GCGACCGCTTCGACGGCGCCT 0.726 3 11 --- --- --- --- PASS AQP6 363 broad.mit.edu 37 12 50368169 50368169 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:50368169G>A uc001rvr.1 + 2 802 c.465G>A c.(463-465)CTG>CTA p.L155L AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 155 Helical; (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 CCCTGCAGCTGGTGCTCTGTG 0.617 OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 66 --- --- --- --- PASS AQP6 363 broad.mit.edu 37 12 50369453 50369453 + Nonstop_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:50369453G>C uc001rvr.1 + 4 1185 c.848G>C c.(847-849)TGA>TCA p.*283S AQP6_uc001rvp.1_Nonstop_Mutation_p.*109S|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 283 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 GAGAGTGTGTGAAACAGCCTA 0.672 3 20 --- --- --- --- PASS METTL7A 25840 broad.mit.edu 37 12 51319290 51319290 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:51319290C>T uc001rxb.2 + 1 757 c.469C>T c.(469-471)CTC>TTC p.L157F METTL7A_uc010smv.1_Intron NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 157 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 GGAGCGGATTCTCCGCGAGGT 0.562 9 45 --- --- --- --- PASS TFCP2 7024 broad.mit.edu 37 12 51495742 51495742 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:51495742C>G uc001rxw.2 - 11 1586 c.1127G>C c.(1126-1128)AGA>ACA p.R376T TFCP2_uc001rxv.1_Missense_Mutation_p.R376T|TFCP2_uc009zlx.1_Missense_Mutation_p.R325T|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.R278T NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 376 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ATTAAAAAGTCTGATTCCATC 0.343 18 151 --- --- --- --- PASS KRT77 374454 broad.mit.edu 37 12 53086361 53086361 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:53086361G>T uc001saw.2 - 7 1300 c.1271C>A c.(1270-1272)GCG>GAG p.A424E KRT77_uc009zmi.2_Missense_Mutation_p.A182E NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 424 Rod.|Coil 2. keratin filament structural molecule activity ovary(1) 1 CTTCTGCCACGCATCCTGGAG 0.592 25 56 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53879117 53879117 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:53879117C>G uc001sdm.1 - 6 963 c.865G>C c.(865-867)GAG>CAG p.E289Q MAP3K12_uc001sdn.1_Missense_Mutation_p.E322Q NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 289 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 TCGACCTTCTCAGACACAGGT 0.552 7 283 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54379177 54379177 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:54379177G>A uc001sen.2 + 1 232 c.134G>A c.(133-135)AGG>AAG p.R45K NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 45 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 GGGGTGATGAGGGGCTGCGGG 0.662 14 89 --- --- --- --- PASS ANKRD52 283373 broad.mit.edu 37 12 56637078 56637078 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:56637078C>T uc001skm.3 - 28 3169 c.3079G>A c.(3079-3081)GTC>ATC p.V1027I NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 1027 protein binding ovary(2) 2 AAAGGACTGACGGCGTCCTTG 0.627 10 33 --- --- --- --- PASS STAT6 6778 broad.mit.edu 37 12 57490445 57490445 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:57490445C>G uc009zpe.2 - 22 2705 c.2454G>C c.(2452-2454)TTG>TTC p.L818F STAT6_uc009zpf.2_Missense_Mutation_p.L818F|STAT6_uc001sna.2_Missense_Mutation_p.L818F|STAT6_uc010srb.1_Missense_Mutation_p.L708F|STAT6_uc010src.1_Missense_Mutation_p.L708F|STAT6_uc010srd.1_Missense_Mutation_p.L708F|STAT6_uc009zpg.2_Missense_Mutation_p.L867F NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 818 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 GCTGTGCCCCCAAGGACCCTC 0.607 13 88 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57857804 57857804 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:57857804C>A uc001snx.2 + 3 201 c.123C>A c.(121-123)TGC>TGA p.C41* GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 41 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CGCCCTTCTGCCACCAAGCTA 0.552 43 288 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58127952 58127952 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:58127952G>A uc001spq.2 - 5 1406 c.1406C>T c.(1405-1407)TCA>TTA p.S469L AGAP2_uc001spp.2_Missense_Mutation_p.S469L|AGAP2_uc001spr.2_Missense_Mutation_p.S133L NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 469 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 TGCCCAGCCTGAGAACTTGCG 0.562 8 58 --- --- --- --- PASS USP15 9958 broad.mit.edu 37 12 62790074 62790074 + Splice_Site SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:62790074G>A uc001src.1 + 20 2580 c.2571_splice c.e20-1 p.N857_splice USP15_uc001srb.1_Splice_Site_p.N828_splice NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TTTTTAAACAGTGACTTGGAT 0.348 38 94 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62931381 62931381 + Splice_Site SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:62931381G>T uc001sre.2 + 16 2405 c.2014_splice c.e16-1 p.L672_splice MON2_uc009zqj.2_Splice_Site_p.L672_splice|MON2_uc010ssl.1_Splice_Site_p.L600_splice|MON2_uc010ssm.1_Splice_Site_p.L649_splice|MON2_uc010ssn.1_Splice_Site_p.L672_splice|MON2_uc001srf.2_Splice_Site_p.L435_splice NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTAAAATATAGCTGACTTCCA 0.308 45 128 --- --- --- --- PASS C12orf66 144577 broad.mit.edu 37 12 64587969 64587969 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:64587969G>C uc001srw.3 - 3 1050 c.991C>G c.(991-993)CAC>GAC p.H331D C12orf66_uc009zql.2_Missense_Mutation_p.H278D NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 331 ovary(1) 1 TGGGGGTGGTGATAACCATGA 0.488 41 191 --- --- --- --- PASS GNS 2799 broad.mit.edu 37 12 65113896 65113896 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:65113896C>G uc001ssg.3 - 13 1656 c.1486G>C c.(1486-1488)GAC>CAC p.D496H GNS_uc001ssf.2_Missense_Mutation_p.D440H|GNS_uc010ssq.1_Missense_Mutation_p.D528H|GNS_uc010ssr.1_Missense_Mutation_p.D476H NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 496 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) AGCTCTGGGTCTATGGTTTTA 0.443 70 450 --- --- --- --- PASS GRIP1 23426 broad.mit.edu 37 12 66849292 66849292 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:66849292C>G uc001stk.2 - 10 1336 c.1095G>C c.(1093-1095)CTG>CTC p.L365L GRIP1_uc010sta.1_Silent_p.L309L|GRIP1_uc001stj.2_Silent_p.L147L|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Silent_p.L365L NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 417 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCAGGGAACTCAGGCTGTATG 0.512 28 138 --- --- --- --- PASS DYRK2 8445 broad.mit.edu 37 12 68051554 68051554 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:68051554G>A uc001str.3 + 3 1269 c.867G>A c.(865-867)GAG>GAA p.E289E DYRK2_uc001sts.3_Silent_p.E216E NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 289 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) ATATGCTGGAGAATTTCACCT 0.498 43 291 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72025649 72025649 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:72025649C>T uc001swo.2 - 16 3738 c.3379G>A c.(3379-3381)GAT>AAT p.D1127N NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1127 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GTGACAAAATCCACATCTACA 0.343 24 154 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78598824 78598824 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:78598824G>T uc001syp.2 + 39 7117 c.6944G>T c.(6943-6945)CGA>CTA p.R2315L NAV3_uc001syo.2_Missense_Mutation_p.R2293L|NAV3_uc010sub.1_Missense_Mutation_p.R1772L|NAV3_uc009zsf.2_Missense_Mutation_p.R1124L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2315 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTTCAGCTGCGACCAGAAGAT 0.507 HNSCC(70;0.22) 18 43 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81675037 81675037 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:81675037G>A uc001szo.1 - 27 3372 c.3211C>T c.(3211-3213)CGA>TGA p.R1071* PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 970 ovary(3)|lung(2)|pancreas(1) 6 AACACCTACCGATGGAAACTA 0.313 15 33 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85441104 85441104 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:85441104G>A uc001tac.2 + 6 645 c.534G>A c.(532-534)CAG>CAA p.Q178Q LRRIQ1_uc001tab.1_Silent_p.Q178Q|LRRIQ1_uc001taa.1_Silent_p.Q178Q|LRRIQ1_uc001tad.2_Silent_p.Q86Q NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 178 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AAGAGAAACAGAAGGAATTAG 0.353 18 117 --- --- --- --- PASS POC1B 282809 broad.mit.edu 37 12 89861417 89861417 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:89861417C>A uc001tbc.2 - 8 961 c.856G>T c.(856-858)GCA>TCA p.A286S POC1B_uc001tba.2_Missense_Mutation_p.A244S|POC1B_uc001tbb.2_Missense_Mutation_p.A156S|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_RNA NM_172240 NP_758440 Q8TC44 POC1B_HUMAN WD repeat domain 51B 286 WD 7. cell projection organization centriole|microtubule basal body ovary(1) 1 CCTCCTGATGCAAATAGCTCT 0.388 4 73 --- --- --- --- PASS LUM 4060 broad.mit.edu 37 12 91498030 91498030 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:91498030C>A uc001tbm.2 - 3 1318 c.929G>T c.(928-930)CGT>CTT p.R310L LUM_uc001tbn.2_RNA NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 310 LRR 11. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 GCCATCCAAACGCAAATGCTT 0.373 22 122 --- --- --- --- PASS MRPL42 28977 broad.mit.edu 37 12 93863109 93863109 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:93863109G>C uc001tcr.2 + 2 206 c.48G>C c.(46-48)TTG>TTC p.L16F MRPL42_uc001tcq.2_Missense_Mutation_p.E10Q|MRPL42_uc001tcs.2_Missense_Mutation_p.L16F|MRPL42_uc001tct.2_RNA NM_172177 NP_751917 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 isoform a 16 translation mitochondrial small ribosomal subunit structural constituent of ribosome ovary(2) 2 GAACTATCTTGAAACATTTAT 0.254 17 84 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94976028 94976028 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:94976028G>A uc001tdj.2 - 2 483 c.365C>T c.(364-366)TCA>TTA p.S122L TMCC3_uc001tdi.2_Missense_Mutation_p.S91L NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 122 Potential. integral to membrane ovary(1)|skin(1) 2 GGAGTGAGCTGATTTCTGATT 0.488 31 167 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95676299 95676299 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:95676299G>A uc001tdz.2 + 8 1312 c.1207G>A c.(1207-1209)GAA>AAA p.E403K VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Intron|VEZT_uc001tdy.2_RNA NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 403 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 TCGGTACTTTGAAACTCAGCA 0.453 92 234 --- --- --- --- PASS DEPDC4 120863 broad.mit.edu 37 12 100656172 100656172 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:100656172C>T uc001thi.2 - 3 573 c.570G>A c.(568-570)ATG>ATA p.M190I DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.M123I|DEPDC4_uc009ztv.1_Missense_Mutation_p.M190I|DEPDC4_uc001thk.1_Missense_Mutation_p.M1I|DEPDC4_uc001thl.1_RNA NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 190 intracellular signal transduction 0 GATTTGAAATCATTTCATATC 0.279 5 157 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101721006 101721006 + Silent SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:101721006T>A uc001tia.1 + 26 3345 c.3189T>A c.(3187-3189)CCT>CCA p.P1063P NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1063 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 TGTTTGAACCTGTGAGGCATT 0.512 81 213 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104134505 104134505 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:104134505G>A uc001tjw.2 + 55 6038 c.5852G>A c.(5851-5853)TGC>TAC p.C1951Y STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1951 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCCAGGTGCTGCAAGGGCTAC 0.567 32 153 --- --- --- --- PASS HSP90B1 7184 broad.mit.edu 37 12 104331551 104331551 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:104331551C>G uc001tkb.1 + 6 927 c.822C>G c.(820-822)TTC>TTG p.F274L HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.F274L NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 274 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) ATTCACAGTTCATAAACTTTC 0.284 5 44 --- --- --- --- PASS APPL2 55198 broad.mit.edu 37 12 105583854 105583854 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:105583854C>G uc001tlf.1 - 15 1539 c.1321G>C c.(1321-1323)GAG>CAG p.E441Q APPL2_uc010swt.1_Missense_Mutation_p.E398Q|APPL2_uc001tlg.1_Missense_Mutation_p.E195Q|APPL2_uc010swu.1_Missense_Mutation_p.E447Q|APPL2_uc009zuq.2_Missense_Mutation_p.E398Q NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 441 cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 ATCAGCTCCTCTGCTTCAGGT 0.453 21 116 --- --- --- --- PASS RIC8B 55188 broad.mit.edu 37 12 107208966 107208966 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:107208966G>C uc001tlx.2 + 3 750 c.625G>C c.(625-627)GAA>CAA p.E209Q RIC8B_uc001tlw.2_Missense_Mutation_p.E209Q|RIC8B_uc001tly.2_Missense_Mutation_p.E169Q|RIC8B_uc001tlz.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 209 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 CGATGAGTATGAATCGGCCAT 0.512 38 172 --- --- --- --- PASS USP30 84749 broad.mit.edu 37 12 109510129 109510129 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:109510129C>G uc010sxi.1 + 6 703 c.599C>G c.(598-600)CCC>CGC p.P200R USP30_uc001tnu.3_Missense_Mutation_p.P169R NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 200 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 GAAATAACTCCCAAACAAATT 0.368 17 99 --- --- --- --- PASS TRPV4 59341 broad.mit.edu 37 12 110252356 110252356 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:110252356G>A uc001tpj.1 - 1 341 c.246C>T c.(244-246)CCC>CCT p.P82P TRPV4_uc001tpg.1_Silent_p.P48P|TRPV4_uc001tph.1_Silent_p.P82P|TRPV4_uc001tpi.1_Silent_p.P82P|TRPV4_uc001tpk.1_Silent_p.P82P|TRPV4_uc001tpl.1_Silent_p.P82P NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 82 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GCAGATCGATGGGGTTGGGCA 0.622 5 73 --- --- --- --- PASS IFT81 28981 broad.mit.edu 37 12 110643430 110643430 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:110643430G>C uc001tqi.2 + 17 1877 c.1747G>C c.(1747-1749)GAT>CAT p.D583H IFT81_uc001tqh.2_Missense_Mutation_p.D583H|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 583 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 TCGTGCTACTGATGAGATGAA 0.313 44 265 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112143635 112143635 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:112143635C>G uc001tsq.2 + 4 630 c.430C>G c.(430-432)CAA>GAA p.Q144E ACAD10_uc009zvw.2_Missense_Mutation_p.Q144E|ACAD10_uc001tso.3_Missense_Mutation_p.Q144E|ACAD10_uc001tsp.2_Missense_Mutation_p.Q144E|ACAD10_uc009zvx.2_Missense_Mutation_p.Q144E NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 144 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GGCCATAACTCAAATTCGGGC 0.453 7 138 --- --- --- --- PASS TBX5 6910 broad.mit.edu 37 12 114793393 114793393 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:114793393G>C uc001tvo.2 - 9 1996 c.1501C>G c.(1501-1503)CAG>GAG p.Q501E TBX5_uc001tvp.2_Missense_Mutation_p.Q501E|TBX5_uc001tvq.2_Missense_Mutation_p.Q451E NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 501 PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592). 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) GAGTGGTACTGATGAGGGGAT 0.537 20 53 --- --- --- --- PASS PXN 5829 broad.mit.edu 37 12 120652667 120652667 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:120652667G>C uc001txt.2 - 9 1370 c.1239C>G c.(1237-1239)TTC>TTG p.F413L PXN_uc001txu.2_Missense_Mutation_p.F225L|PXN_uc001txv.2_Missense_Mutation_p.F294L|PXN_uc001txx.2_Missense_Mutation_p.F246L|PXN_uc001txy.2_Missense_Mutation_p.F379L|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 413 LIM zinc-binding 1. F -> S (in Ref. 5; CAI46024). cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCGCGGGGAGAAGAGGTTGT 0.607 12 66 --- --- --- --- PASS PXN 5829 broad.mit.edu 37 12 120652718 120652718 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:120652718G>C uc001txt.2 - 9 1319 c.1188C>G c.(1186-1188)TTC>TTG p.F396L PXN_uc001txu.2_Missense_Mutation_p.F208L|PXN_uc001txv.2_Missense_Mutation_p.F277L|PXN_uc001txx.2_Missense_Mutation_p.F229L|PXN_uc001txy.2_Missense_Mutation_p.F362L|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 396 LIM zinc-binding 1. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCCGCTCGAAGAAGTTCCGGG 0.592 5 54 --- --- --- --- PASS OASL 8638 broad.mit.edu 37 12 121465579 121465579 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:121465579G>C uc001tzj.1 - 4 705 c.699C>G c.(697-699)CTC>CTG p.L233L OASL_uc001tzk.1_Intron NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 233 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGAGCATAGAGAGGGGGCA 0.453 17 66 --- --- --- --- PASS CLIP1 6249 broad.mit.edu 37 12 122803817 122803817 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:122803817C>A uc001ucg.1 - 17 3434 c.3328G>T c.(3328-3330)GAG>TAG p.E1110* CLIP1_uc001uch.1_Nonsense_Mutation_p.E1099*|CLIP1_uc001uci.1_Nonsense_Mutation_p.E1064*|CLIP1_uc001ucj.1_Nonsense_Mutation_p.E685* NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1110 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGGTGTCCTCCAAGGAGGCC 0.403 48 112 --- --- --- --- PASS RSRC2 65117 broad.mit.edu 37 12 122991435 122991435 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:122991435C>T uc001ucr.2 - 9 1217 c.1071G>A c.(1069-1071)TTG>TTA p.L357L RSRC2_uc001uco.2_Silent_p.L126L|RSRC2_uc001ucp.2_Silent_p.L298L|RSRC2_uc001ucq.2_Silent_p.L125L|RSRC2_uc001ucs.2_Silent_p.L126L|RSRC2_uc001uct.2_Silent_p.L309L|RSRC2_uc001ucu.2_Silent_p.L358L NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 357 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TTCCAAAATTCAATTTTTCCC 0.313 17 151 --- --- --- --- PASS SBNO1 55206 broad.mit.edu 37 12 123805125 123805125 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:123805125G>A uc010tap.1 - 18 2521 c.2521C>T c.(2521-2523)CTT>TTT p.L841F SBNO1_uc010tao.1_Missense_Mutation_p.L840F|SBNO1_uc010taq.1_Intron NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 841 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTTGTTATAAGGCTACTGTTA 0.353 39 270 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124297756 124297756 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:124297756C>T uc001uft.3 + 19 2861 c.2836C>T c.(2836-2838)CAG>TAG p.Q946* DNAH10_uc010tav.1_Nonsense_Mutation_p.Q488*|DNAH10_uc010taw.1_Nonsense_Mutation_p.Q431* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 946 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGCCCACCTCAGAAGGGGGA 0.388 20 77 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124311323 124311323 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:124311323C>G uc001uft.3 + 24 3940 c.3915C>G c.(3913-3915)CTC>CTG p.L1305L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1305 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAGGGCTCTCAGAAAGCTAC 0.453 22 172 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130884263 130884263 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:130884263G>A uc001uil.2 - 18 3257 c.3093C>T c.(3091-3093)CAC>CAT p.H1031H NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 1031 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CTTGAGAGTAGTGGGATGGAG 0.458 34 145 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130926707 130926707 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:130926707A>T uc001uil.2 - 8 1303 c.1139T>A c.(1138-1140)CTG>CAG p.L380Q RIMBP2_uc001uim.2_Missense_Mutation_p.L288Q|RIMBP2_uc001uin.1_Missense_Mutation_p.L39Q NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 380 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGTGCACTGCAGCTCATCCGA 0.642 16 55 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130935770 130935770 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:130935770G>A uc001uil.2 - 5 587 c.423C>T c.(421-423)TCC>TCT p.S141S RIMBP2_uc001uim.2_Silent_p.S49S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 141 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TTGCGCTACCGGATCTCGACA 0.637 19 57 --- --- --- --- PASS PGAM5 192111 broad.mit.edu 37 12 133294611 133294611 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:133294611C>T uc009zyv.2 + 5 651 c.624C>T c.(622-624)TTC>TTT p.F208F PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Silent_p.F208F NM_138575 NP_612642 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 208 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) AGGCCGCCTTCCGGAACTACA 0.617 13 87 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133373127 133373127 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr12:133373127G>A uc001ukz.1 - 10 2657 c.2098C>T c.(2098-2100)CAG>TAG p.Q700* GOLGA3_uc001ula.1_Nonsense_Mutation_p.Q700*|GOLGA3_uc001ulb.2_Nonsense_Mutation_p.Q700* NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 700 Gln-rich.|Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GGACTTACCTGCTCCAGCTGC 0.647 24 117 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23912025 23912025 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:23912025G>C uc001uon.2 - 10 6579 c.5990C>G c.(5989-5991)TCT>TGT p.S1997C SACS_uc001uoo.2_Missense_Mutation_p.S1850C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1997 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTAAGTATAGAGTCATCTAG 0.378 20 83 --- --- --- --- PASS GPR12 2835 broad.mit.edu 37 13 27333804 27333804 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:27333804G>C uc010aal.2 - 2 383 c.161C>G c.(160-162)TCG>TGG p.S54W GPR12_uc010tdl.1_Intron NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 54 Helical; Name=1; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GAGGGTTCCCGAGGTACACAA 0.572 31 97 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28964033 28964033 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:28964033G>C uc001usb.3 - 13 2154 c.1869C>G c.(1867-1869)ATC>ATG p.I623M FLT1_uc010aar.1_Missense_Mutation_p.I623M|FLT1_uc001usc.3_Missense_Mutation_p.I623M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.I106M NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 623 Ig-like C2-type 6.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AAACATTCATGATGGTAAGAT 0.413 64 213 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599656 29599656 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:29599656C>A uc001usl.3 + 1 909 c.851C>A c.(850-852)ACA>AAA p.T284K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 274 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AGTGAGCACACATCACATTCC 0.512 5 24 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35644898 35644898 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:35644898C>T uc001uvb.2 + 11 1686 c.1480C>T c.(1480-1482)CAT>TAT p.H494Y NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 494 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGTGCAATTCATTCAATTGG 0.333 55 75 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39433451 39433451 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:39433451G>C uc001uwv.2 + 14 7552 c.7243G>C c.(7243-7245)GAT>CAT p.D2415H FREM2_uc001uww.2_Missense_Mutation_p.D501H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2415 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCAGACTACGATAAAACAGG 0.498 39 158 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42873499 42873499 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:42873499G>C uc001uys.1 + 8 792 c.617G>C c.(616-618)GGA>GCA p.G206A NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 206 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTTCCTATAGGAATGAACATT 0.318 21 58 --- --- --- --- PASS KLF5 688 broad.mit.edu 37 13 73649905 73649905 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:73649905G>C uc001vje.2 + 4 1579 c.1255G>C c.(1255-1257)GAG>CAG p.E419Q KLF5_uc001vjd.2_Missense_Mutation_p.E328Q NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 419 C2H2-type 2. transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GCGATCGGATGAGCTGACCCG 0.592 12 67 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77695532 77695532 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:77695532C>G uc001vkf.2 - 56 8093 c.8002G>C c.(8002-8004)GAT>CAT p.D2668H MYCBP2_uc010aev.2_Missense_Mutation_p.D2072H|MYCBP2_uc001vkg.1_Missense_Mutation_p.D131H NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2668 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGTCCATAATCAAATCCTTGG 0.358 9 167 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329935 88329935 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:88329935C>T uc001vln.2 + 2 2511 c.2292C>T c.(2290-2292)ATC>ATT p.I764I SLITRK5_uc010tic.1_Silent_p.I523I NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 764 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) AAAACCCCATCTACCGCTCCC 0.557 15 68 --- --- --- --- PASS TPP2 7174 broad.mit.edu 37 13 103296993 103296993 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:103296993G>T uc001vpi.3 + 18 2365 c.2262G>T c.(2260-2262)GGG>GGT p.G754G NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 754 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTTTCCATGGGATAGTGTGTA 0.368 22 104 --- --- --- --- PASS MCF2L 23263 broad.mit.edu 37 13 113730391 113730391 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:113730391G>C uc001vsu.2 + 12 1613 c.1591G>C c.(1591-1593)GAG>CAG p.E531Q MCF2L_uc001vsq.2_Missense_Mutation_p.E531Q|MCF2L_uc010tjr.1_Missense_Mutation_p.E474Q|MCF2L_uc001vsr.2_Missense_Mutation_p.E478Q|MCF2L_uc001vss.3_Missense_Mutation_p.E472Q|MCF2L_uc010tjs.1_Missense_Mutation_p.E472Q|MCF2L_uc001vst.1_Missense_Mutation_p.E436Q NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 504 Potential. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 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;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GAAGTTTTTGGAGACCGGTGC 0.532 12 36 --- --- --- --- PASS CDC16 8881 broad.mit.edu 37 13 115009418 115009418 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:115009418C>A uc001vuk.1 + 8 919 c.721C>A c.(721-723)CAT>AAT p.H241N CDC16_uc001vul.1_Missense_Mutation_p.H241N|CDC16_uc001vum.1_Missense_Mutation_p.H147N|CDC16_uc001vun.1_Missense_Mutation_p.H240N|CDC16_uc001vuo.1_Missense_Mutation_p.H240N NM_003903 NP_003894 Q13042 CDC16_HUMAN anaphase-promoting complex, subunit 6 241 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding 0 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) AGCTGAGAGACATTATTATAA 0.378 24 101 --- --- --- --- PASS OR6S1 341799 broad.mit.edu 37 14 21109424 21109424 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:21109424A>C uc001vxv.1 - 1 427 c.427T>G c.(427-429)TGC>GGC p.C143G NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 143 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) ACACGAAAGCACACAGCCCCA 0.607 9 55 --- --- --- --- PASS RNASE3 6037 broad.mit.edu 37 14 21359978 21359978 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:21359978C>G uc001vyj.2 + 2 187 c.133C>G c.(133-135)CTG>GTG p.L45V NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 45 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) GCACATCAGTCTGAACCCCCC 0.488 34 179 --- --- --- --- PASS FLJ10357 55701 broad.mit.edu 37 14 21552086 21552086 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:21552086G>A uc001vzp.2 + 17 3695 c.3666G>A c.(3664-3666)CTG>CTA p.L1222L FLJ10357_uc001vzo.1_Silent_p.L301L|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.L508L NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 1222 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) AGGAGCTCCTGAGGGAAGCTG 0.667 12 66 --- --- --- --- PASS PRMT5 10419 broad.mit.edu 37 14 23393852 23393852 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:23393852G>A uc001whm.1 - 9 1097 c.1006C>T c.(1006-1008)CAG>TAG p.Q336* PRMT5_uc001whl.1_Nonsense_Mutation_p.Q319*|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Nonsense_Mutation_p.Q230*|PRMT5_uc010tng.1_Nonsense_Mutation_p.Q275*|PRMT5_uc010tnh.1_Nonsense_Mutation_p.Q292*|PRMT5_uc001whn.1_Nonsense_Mutation_p.Q165* NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 336 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.Q336E(1) ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TGCTGGTACTGAGAGTATTTG 0.493 10 112 --- --- --- --- PASS AP1G2 8906 broad.mit.edu 37 14 24030804 24030804 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:24030804C>T uc001wkl.2 - 18 2111 c.1774G>A c.(1774-1776)GGC>AGC p.G592S AP1G2_uc001wkj.2_Missense_Mutation_p.G211S|AP1G2_uc001wkk.3_Missense_Mutation_p.G520S|AP1G2_uc001wkn.2_Missense_Mutation_p.G211S|uc001wko.1_RNA|AP1G2_uc001wkp.1_RNA NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 592 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GCCTGAGGGCCATCTCGCTCC 0.552 5 79 --- --- --- --- PASS PSME2 5721 broad.mit.edu 37 14 24614467 24614467 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:24614467G>C uc001wmj.2 - 5 312 c.247C>G c.(247-249)CAG>GAG p.Q83E PSME2_uc001wmk.2_Missense_Mutation_p.Q6E|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank NM_002818 NP_002809 Q9UL46 PSME2_HUMAN proteasome activator subunit 2 83 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex 0 GBM - Glioblastoma multiforme(265;0.00839) TTCTTCTCCTGCTTATCTGTT 0.458 21 134 --- --- --- --- PASS TGM1 7051 broad.mit.edu 37 14 24723420 24723420 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:24723420G>A uc001wod.2 - 14 2287 c.2163C>T c.(2161-2163)CTC>CTT p.L721L TGM1_uc010tog.1_Silent_p.L279L NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 721 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CGACATTGGTGAGGGTGACGG 0.572 13 48 --- --- --- --- PASS COCH 1690 broad.mit.edu 37 14 31354661 31354661 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:31354661G>C uc001wqr.2 + 10 875 c.795G>C c.(793-795)GGG>GGC p.G265G COCH_uc001wqp.2_Silent_p.G265G|COCH_uc001wqq.3_Silent_p.G265G|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.G116G NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 265 VWFA 1. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TAAGAAAAGGGATCCCCAAAG 0.418 20 172 --- --- --- --- PASS COCH 1690 broad.mit.edu 37 14 31355340 31355340 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:31355340C>T uc001wqr.2 + 11 1379 c.1299C>T c.(1297-1299)GTC>GTT p.V433V COCH_uc001wqp.2_Silent_p.V433V|COCH_uc001wqq.3_Silent_p.V433V|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.V284V NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 433 VWFA 2. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TCCTAGCTGTCATCAGAAACA 0.463 30 211 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35263991 35263991 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:35263991C>G uc001wsk.2 - 11 1895 c.1327G>C c.(1327-1329)GAT>CAT p.D443H BAZ1A_uc001wsl.2_Missense_Mutation_p.D443H NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 443 DDT. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCTTGAAGATCAAAAAGTTCC 0.299 15 160 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35295249 35295249 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:35295249G>C uc001wsk.2 - 4 1074 c.506C>G c.(505-507)TCA>TGA p.S169* BAZ1A_uc001wsl.2_Nonsense_Mutation_p.S169*|BAZ1A_uc001wsm.1_Nonsense_Mutation_p.S169* NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 169 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTGTGTTTCTGAATCATCACT 0.313 5 21 --- --- --- --- PASS NKX2-1 7080 broad.mit.edu 37 14 36986504 36986504 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:36986504C>T uc001wtt.2 - 2 1436 c.1095G>A c.(1093-1095)TTG>TTA p.L365L SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.L395L|NKX2-1_uc001wtv.2_Silent_p.L365L|uc001wtw.1_5'Flank NM_003317 NP_003308 P43699 NKX21_HUMAN thyroid transcription factor 1 isoform 2 365 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding skin(1) 1 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GACCGTATAGCAAGGTGGAGC 0.697 A NSCLC 3 12 --- --- --- --- PASS PNN 5411 broad.mit.edu 37 14 39649715 39649715 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:39649715G>C uc001wuw.3 + 9 899 c.802G>C c.(802-804)GAA>CAA p.E268Q NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 268 Necessary for interaction with RNPS1.|Glu-rich. E -> D (in Ref. 1; AAB48304). cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AGCTTTATTTGAAGGTAGACG 0.318 9 72 --- --- --- --- PASS MIA2 117153 broad.mit.edu 37 14 39722273 39722273 + Splice_Site SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:39722273A>T uc001wux.2 + 6 1981 c.1787_splice c.e6-2 p.E596_splice NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATAAATCAACAGAAGATGCTT 0.254 23 53 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975997 44975997 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:44975997C>A uc001wvn.2 - 1 503 c.194G>T c.(193-195)GGA>GTA p.G65V NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 65 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CATTTCCTGTCCATGCTTTCT 0.418 50 329 --- --- --- --- PASS KLHDC1 122773 broad.mit.edu 37 14 50176427 50176427 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:50176427G>A uc001www.2 + 3 196 c.168G>A c.(166-168)TGG>TGA p.W56* SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.G20E|KLHDC1_uc010tqh.1_5'UTR NM_172193 NP_751943 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 56 Kelch 1. cytoplasm pancreas(1) 1 all_epithelial(31;0.00244)|Breast(41;0.00964) CTTGCTGCAGGAGAATGCACC 0.413 23 88 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51223634 51223634 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:51223634C>G uc001wym.2 - 18 4305 c.4114G>C c.(4114-4116)GAG>CAG p.E1372Q NIN_uc001wyi.2_Missense_Mutation_p.E1372Q|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.E1378Q|NIN_uc001wyo.2_Missense_Mutation_p.E1372Q NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1372 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) ggcacacactcttccagtgtc 0.020 T PDGFRB MPD 3 12 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51224085 51224085 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:51224085T>A uc001wym.2 - 18 3854 c.3663A>T c.(3661-3663)AAA>AAT p.K1221N NIN_uc001wyi.2_Missense_Mutation_p.K1221N|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.K1227N|NIN_uc001wyo.2_Missense_Mutation_p.K1221N NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1221 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GTAGGTCCTGTTTCTTTTCAG 0.418 T PDGFRB MPD 62 314 --- --- --- --- PASS DDHD1 80821 broad.mit.edu 37 14 53521243 53521243 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:53521243C>G uc001xai.2 - 11 2580 c.2350G>C c.(2350-2352)GAG>CAG p.E784Q DDHD1_uc001xaj.2_Missense_Mutation_p.E791Q|DDHD1_uc001xah.2_Missense_Mutation_p.E784Q|DDHD1_uc001xag.2_Missense_Mutation_p.E366Q|DDHD1_uc001xak.1_Missense_Mutation_p.E180Q NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 784 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) GGCTTCTTCTCATCTTCCATT 0.453 24 146 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55475034 55475034 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:55475034C>A uc001xbm.1 - 6 582 c.504G>T c.(502-504)CAG>CAT p.Q168H WDHD1_uc001xbn.1_Missense_Mutation_p.Q45H NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 168 WD 4. cytoplasm|nucleoplasm DNA binding skin(1) 1 CTGAGTTTACCTGATCTGAAA 0.328 13 72 --- --- --- --- PASS SOCS4 122809 broad.mit.edu 37 14 55510378 55510378 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:55510378G>C uc001xbo.2 + 3 1184 c.619G>C c.(619-621)GAA>CAA p.E207Q SOCS4_uc001xbp.2_Missense_Mutation_p.E207Q NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 207 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 TTTGTGTAGAGAAGGTCCTAT 0.383 34 198 --- --- --- --- PASS SOCS4 122809 broad.mit.edu 37 14 55510516 55510516 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:55510516G>T uc001xbo.2 + 3 1322 c.757G>T c.(757-759)GAT>TAT p.D253Y SOCS4_uc001xbp.2_Missense_Mutation_p.D253Y NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 253 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 GGATTTGGATGATGAAATCCT 0.383 24 107 --- --- --- --- PASS ACTR10 55860 broad.mit.edu 37 14 58701237 58701237 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:58701237C>T uc001xdf.2 + 13 1325 c.1222C>T c.(1222-1224)CTG>TTG p.L408L C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Silent_p.L210L|ACTR10_uc001xdh.2_Silent_p.L210L|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Silent_p.L198L NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 408 cytoplasm central_nervous_system(1) 1 TCAACCACCTCTGATGAAGAG 0.348 30 150 --- --- --- --- PASS C14orf149 112849 broad.mit.edu 37 14 59951017 59951017 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:59951017C>T uc001xee.1 - 1 57 c.18G>A c.(16-18)GCG>GCA p.A6A C14orf149_uc010trx.1_Silent_p.A6A|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank|JKAMP_uc001xej.3_5'Flank NM_144581 NP_653182 Q96EM0 PRCM_HUMAN proline racemase-like 6 proline racemase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.14) L-Proline(DB00172) GCCGGGGCACCGCCAGCGCGC 0.706 9 38 --- --- --- --- PASS SIX4 51804 broad.mit.edu 37 14 61180302 61180302 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:61180302C>A uc001xfc.2 - 3 2169 c.2169G>T c.(2167-2169)GAG>GAT p.E723D NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 723 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) ATAAGAAATTCTCTTTCATGT 0.423 20 108 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64416564 64416564 + Missense_Mutation SNP C G G rs142000273 by1000genomes TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:64416564C>G uc001xgm.2 + 7 660 c.430C>G c.(430-432)CTT>GTT p.L144V SYNE2_uc001xgk.2_Missense_Mutation_p.L144V|SYNE2_uc001xgl.2_Missense_Mutation_p.L144V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 144 Cytoplasmic (Potential).|Actin-binding. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGCCCAGACTCTTTCTTGCAA 0.423 50 308 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64644158 64644158 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:64644158C>T uc001xgm.2 + 96 17743 c.17513C>T c.(17512-17514)CCA>CTA p.P5838L SYNE2_uc001xgl.2_Missense_Mutation_p.P5838L|SYNE2_uc010apy.2_Missense_Mutation_p.P2223L|SYNE2_uc001xgn.2_Missense_Mutation_p.P800L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.P203L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5838 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GATCCTCTTCCAGAGCTTCAC 0.393 24 110 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68256264 68256264 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:68256264G>C uc001xka.2 - 16 2946 c.2807C>G c.(2806-2808)TCT>TGT p.S936C ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S936C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 936 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGGGTCTCCAGAGGTGTTGAG 0.522 6 179 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71444958 71444958 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:71444958C>G uc001xmo.2 + 6 2350 c.1904C>G c.(1903-1905)TCT>TGT p.S635C PCNX_uc001xmn.3_Missense_Mutation_p.S635C|PCNX_uc010are.1_Missense_Mutation_p.S635C NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 635 Ser-rich. integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCCTGTCAGTCTCCTGAGGGC 0.463 26 148 --- --- --- --- PASS DPF3 8110 broad.mit.edu 37 14 73190343 73190343 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:73190343G>A uc001xnc.2 - 5 536 c.523C>T c.(523-525)CGG>TGG p.R175W DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.R175W|DPF3_uc010ttq.1_Missense_Mutation_p.R185W NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 175 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CAACTTACCCGTCCTCTAGTC 0.478 49 235 --- --- --- --- PASS PTGR2 145482 broad.mit.edu 37 14 74340877 74340877 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:74340877G>T uc001xow.2 + 4 468 c.308G>T c.(307-309)TGG>TTG p.W103L PTGR2_uc010tue.1_Missense_Mutation_p.W103L|PTGR2_uc001xox.2_Missense_Mutation_p.W103L|ZNF410_uc001xoy.1_RNA NM_001146154 NP_001139626 Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 103 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding 0 TATTGGCCCTGGCAAACCAAG 0.353 16 159 --- --- --- --- PASS ZNF410 57862 broad.mit.edu 37 14 74370752 74370752 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:74370752G>C uc001xoz.1 + 6 852 c.670G>C c.(670-672)GAA>CAA p.E224Q ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_Intron|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.E151Q|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.E241Q|ZNF410_uc001xpa.1_Missense_Mutation_p.L37F|ZNF410_uc001xpb.1_Missense_Mutation_p.E224Q|ZNF410_uc001xpc.1_Missense_Mutation_p.E171Q|ZNF410_uc010tuj.1_Missense_Mutation_p.L37F NM_021188 NP_067011 Q86VK4 ZN410_HUMAN zinc finger protein 410 224 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00369) GTGTACAGTTGAAGGTTGTGA 0.453 5 154 --- --- --- --- PASS C14orf45 80127 broad.mit.edu 37 14 74516731 74516731 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:74516731G>C uc010tup.1 + 8 1242 c.1119G>C c.(1117-1119)CAG>CAC p.Q373H C14orf45_uc001xpm.1_RNA NM_025057 NP_079333 Q8ND07 CN045_HUMAN hypothetical protein LOC80127 373 0 BRCA - Breast invasive adenocarcinoma(234;0.00351) TGAAGCAACAGATCCTAATTA 0.398 12 78 --- --- --- --- PASS KIAA0317 9870 broad.mit.edu 37 14 75151330 75151330 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:75151330C>G uc001xqb.2 - 4 575 c.70G>C c.(70-72)GAG>CAG p.E24Q KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqc.2_Missense_Mutation_p.E24Q|KIAA0317_uc001xqd.1_Intron NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 24 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) GCGGCAAGCTCAAAGAGGAAC 0.502 9 52 --- --- --- --- PASS NEK9 91754 broad.mit.edu 37 14 75574085 75574085 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:75574085G>A uc001xrl.2 - 11 1442 c.1288C>T c.(1288-1290)CAG>TAG p.Q430* NEK9_uc001xrk.2_5'UTR NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 430 RCC1 1. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) CATGACACCTGACGGATAGCT 0.473 20 96 --- --- --- --- PASS NGB 58157 broad.mit.edu 37 14 77732898 77732898 + Missense_Mutation SNP C G G rs150881015 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:77732898C>G uc001xtg.1 - 4 812 c.437G>C c.(436-438)CGA>CCA p.R146P NM_021257 NP_067080 Q9NPG2 NGB_HUMAN neuroglobin 146 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) ATCCCAGCCTCGACTCATGGC 0.632 9 73 --- --- --- --- PASS TMED8 283578 broad.mit.edu 37 14 77808183 77808183 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:77808183G>C uc001xto.1 - 6 909 c.909C>G c.(907-909)CTC>CTG p.L303L TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Silent_p.L147L NM_213601 NP_998766 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain 303 GOLD. transport integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) TGTCGAACTTGAGCAGGTAGA 0.587 11 73 --- --- --- --- PASS ISM2 145501 broad.mit.edu 37 14 77948773 77948773 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:77948773C>G uc001xtz.2 - 4 939 c.865G>C c.(865-867)GAG>CAG p.E289Q ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.E201Q|ISM2_uc010tvl.1_Missense_Mutation_p.E208Q NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 289 extracellular region skin(1) 1 tcatcttcctctttgtcctct 0.289 19 70 --- --- --- --- PASS TTC7B 145567 broad.mit.edu 37 14 91110546 91110546 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:91110546C>G uc001xyp.2 - 15 1719 c.1597G>C c.(1597-1599)GAG>CAG p.E533Q TTC7B_uc001xyo.2_5'UTR|TTC7B_uc010ats.2_RNA|uc001xyq.2_Intron NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 533 TPR 6. binding ovary(2) 2 Melanoma(154;0.222) CCCAGAGCCTCTGGGATCTGG 0.398 25 121 --- --- --- --- PASS CCDC88C 440193 broad.mit.edu 37 14 91779949 91779949 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:91779949C>A uc010aty.2 - 15 2310 c.2211G>T c.(2209-2211)AAG>AAT p.K737N NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 737 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) TCAGCTCCTCCTTCTCACGCT 0.617 46 99 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94084612 94084612 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:94084612G>T uc001ybv.1 + 27 3917 c.3834G>T c.(3832-3834)GCG>GCT p.A1278A KIAA1409_uc001ybs.1_Silent_p.A1256A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1433 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CACTCAATGCGCAGTATCATA 0.428 13 91 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94158226 94158226 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:94158226G>A uc001ybv.1 + 45 7139 c.7056G>A c.(7054-7056)CTG>CTA p.L2352L KIAA1409_uc001ybs.1_Silent_p.L2330L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2507 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CGGCGATACTGACAGCACTAG 0.473 19 114 --- --- --- --- PASS IFI27 3429 broad.mit.edu 37 14 94578051 94578051 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:94578051C>T uc010tws.1 + 2 211 c.90C>T c.(88-90)CTC>CTT p.L30L IFI27_uc001ycm.1_RNA|IFI27_uc001ycn.1_Intron|IFI27_uc001yco.2_Missense_Mutation_p.S8L NM_005532 NP_005523 P40305 IFI27_HUMAN interferon, alpha-inducible protein 27 isoform Error:Variant_position_missing_in_P40305_after_alignment activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway integral to membrane|mitochondrion 0 Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206) GCTCTCACCTCATCAGCAGTG 0.602 15 59 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95669505 95669505 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:95669505G>C uc001yef.2 - 9 2297 c.2181C>G c.(2179-2181)TTC>TTG p.F727L NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 727 integral to membrane actin binding 0 Epithelial(152;0.193) GTGGGAAATAGAAGAGGTCGT 0.517 23 65 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95670395 95670395 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:95670395C>G uc001yef.2 - 9 1407 c.1291G>C c.(1291-1293)GAC>CAC p.D431H NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 431 integral to membrane actin binding 0 Epithelial(152;0.193) TTGTAGGTGTCAGCCTCAAAG 0.473 24 162 --- --- --- --- PASS BDKRB2 624 broad.mit.edu 37 14 96706942 96706942 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:96706942G>C uc010avm.1 + 3 473 c.277G>C c.(277-279)GAG>CAG p.E93Q BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.E66Q|BDKRB2_uc001yfg.2_Missense_Mutation_p.E93Q NM_000623 NP_000614 P30411 BKRB2_HUMAN bradykinin receptor B2 93 Cytoplasmic (Potential). arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding ovary(3)|breast(1)|kidney(1) 5 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CACGGTGGCAGAGATCTACCT 0.612 6 270 --- --- --- --- PASS AK7 122481 broad.mit.edu 37 14 96937902 96937902 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:96937902G>A uc001yfn.2 + 13 1489 c.1445G>A c.(1444-1446)GGA>GAA p.G482E NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 482 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATTTTGGATGGATTCCCAAAG 0.303 6 108 --- --- --- --- PASS SETD3 84193 broad.mit.edu 37 14 99865289 99865289 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:99865289C>G uc001ygc.2 - 13 1682 c.1512G>C c.(1510-1512)GAG>GAC p.E504D NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 504 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CAAGGTTACTCTCTTCATATT 0.522 78 376 --- --- --- --- PASS MIR496 574454 broad.mit.edu 37 14 101526956 101526956 + RNA SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:101526956T>C hsa-mir-496|MI0003136 + c.47T>C uc010awh.1_5'Flank|MIR377_hsa-mir-377|MI0000785_5'Flank 0 GTGTTCATTTTATTTATGATG 0.537 6 23 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102481630 102481630 + Missense_Mutation SNP A C C rs150888094 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:102481630A>C uc001yks.2 + 35 7367 c.7203A>C c.(7201-7203)AAA>AAC p.K2401N DYNC1H1_uc001ykt.1_5'UTR NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2401 AAA 2 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GTAAGGGCAAAGAGGATGAGG 0.582 3 32 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104209151 104209151 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:104209151C>G uc001yof.1 - 10 1443 c.1160G>C c.(1159-1161)GGA>GCA p.G387A PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.G254A NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 387 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TGGCCAGTTTCCATCATTAGC 0.443 5 175 --- --- --- --- PASS TDRD9 122402 broad.mit.edu 37 14 104472825 104472825 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:104472825C>G uc001yom.3 + 16 1843 c.1813C>G c.(1813-1815)CAG>GAG p.Q605E TDRD9_uc001yon.3_Missense_Mutation_p.Q343E NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 605 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TCCTGTAAATCAGCAACTTGG 0.408 20 92 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105415937 105415937 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:105415937G>C uc010axc.1 - 7 5971 c.5851C>G c.(5851-5853)CTG>GTG p.L1951V AHNAK2_uc001ypx.2_Missense_Mutation_p.L1851V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1951 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATGCTGGGCAGAGACACCTCG 0.622 50 278 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105420834 105420834 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:105420834C>G uc010axc.1 - 7 1074 c.954G>C c.(952-954)CAG>CAC p.Q318H AHNAK2_uc001ypx.2_Missense_Mutation_p.Q218H NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 318 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCGCCTCCTCTGGCTGCCCG 0.642 3 20 --- --- --- --- PASS BTBD6 90135 broad.mit.edu 37 14 105716777 105716777 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:105716777G>T uc010tyq.1 + 5 1334 c.1226G>T c.(1225-1227)GGA>GTA p.G409V BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN BTB domain protein BDPL 409 cytoplasmic mRNA processing body 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) ATGTCAGACGGATCCAGTAAC 0.567 4 100 --- --- --- --- PASS MTA1 9112 broad.mit.edu 37 14 105905016 105905016 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr14:105905016C>G uc001yqx.2 + 2 223 c.36C>G c.(34-36)GTC>GTG p.V12V MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_5'UTR|MTA1_uc001yra.1_5'UTR NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 12 BAH. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CAGACTACGTCTACTTTGAGA 0.617 43 229 --- --- --- --- PASS CYFIP1 23191 broad.mit.edu 37 15 22962537 22962537 + Missense_Mutation SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:22962537A>T uc001yus.2 + 20 2361 c.2257A>T c.(2257-2259)AGG>TGG p.R753W CYFIP1_uc001yut.2_Missense_Mutation_p.R753W|CYFIP1_uc010aya.1_Missense_Mutation_p.R781W|CYFIP1_uc001yuu.2_Missense_Mutation_p.R322W NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 753 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) GCTGAAGCAGAGGCATGTGCA 0.468 7 48 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23890133 23890133 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:23890133C>G uc001ywj.3 - 1 1043 c.948G>C c.(946-948)CTG>CTC p.L316L NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CCCAGTCACTCAGATTTAGAT 0.612 19 91 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931634 23931634 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:23931634T>C uc001ywk.2 - 1 817 c.731A>G c.(730-732)TAC>TGC p.Y244C NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 244 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GTACTTCAGGTAATTCATTTG 0.587 Prader-Willi_syndrome 18 51 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931908 23931908 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:23931908G>T uc001ywk.2 - 1 543 c.457C>A c.(457-459)CTG>ATG p.L153M NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 153 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTCAGGTGCAGCCCGAACACC 0.622 Prader-Willi_syndrome 9 31 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28228542 28228542 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:28228542G>A uc001zbh.3 - 14 1562 c.1452C>T c.(1450-1452)ATC>ATT p.I484I OCA2_uc010ayv.2_Silent_p.I460I NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 484 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAGGGTCCCCGATGGCAGTGG 0.493 Oculocutaneous_Albinism 14 92 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33359865 33359865 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:33359865G>T uc001zhf.3 - 1 221 c.221C>A c.(220-222)TCC>TAC p.S74Y FMN1_uc001zhg.2_Missense_Mutation_p.S74Y NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:Variant_position_missing_in_Q68DA7_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GCCATTGCTGGAATCATCCTG 0.458 17 104 --- --- --- --- PASS CASC5 57082 broad.mit.edu 37 15 40902467 40902467 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:40902467G>C uc010bbs.1 + 6 383 c.222G>C c.(220-222)ATG>ATC p.M74I CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.2_Missense_Mutation_p.M74I|CASC5_uc010bbt.1_Missense_Mutation_p.M74I NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 74 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AGTCTCATATGAAAATAGTGA 0.308 37 152 --- --- --- --- PASS CASC5 57082 broad.mit.edu 37 15 40912985 40912985 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:40912985A>C uc010bbs.1 + 11 762 c.601A>C c.(601-603)ACC>CCC p.T201P CASC5_uc010ucq.1_Missense_Mutation_p.T25P|CASC5_uc001zme.2_Missense_Mutation_p.T175P|CASC5_uc010bbt.1_Missense_Mutation_p.T175P NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 201 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TGAAAAGTCCACCAAGATAGA 0.363 19 125 --- --- --- --- PASS SPINT1 6692 broad.mit.edu 37 15 41146845 41146845 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:41146845G>C uc001zna.2 + 8 1327 c.1123G>C c.(1123-1125)GGC>CGC p.G375R SPINT1_uc001znb.2_Missense_Mutation_p.G359R|SPINT1_uc001znc.2_Missense_Mutation_p.G359R|SPINT1_uc010ucs.1_Missense_Mutation_p.G366R NM_181642 NP_857593 O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 375 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) AGACACGAGTGGCTTTGACGA 0.592 34 145 --- --- --- --- PASS EHD4 30844 broad.mit.edu 37 15 42192959 42192959 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:42192959A>C uc001zot.2 - 6 1573 c.1510T>G c.(1510-1512)TTC>GTC p.F504V NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 504 EF-hand.|EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GCCAGCGCGAACTCCTCCTCA 0.632 24 43 --- --- --- --- PASS TTBK2 146057 broad.mit.edu 37 15 43044761 43044761 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:43044761C>G uc001zqo.2 - 14 3122 c.2683G>C c.(2683-2685)GAC>CAC p.D895H TTBK2_uc010bcy.2_Missense_Mutation_p.D826H NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 895 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GTAGAGAGGTCTCCTTGATGA 0.418 40 144 --- --- --- --- PASS ZSCAN29 146050 broad.mit.edu 37 15 43661911 43661911 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:43661911C>G uc001zrk.1 - 1 348 c.201G>C c.(199-201)CTG>CTC p.L67L ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.L66L|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.L66L|ZSCAN29_uc001zrm.2_Silent_p.L66L|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 67 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) GTAAGACGGTCAGGAACTGCT 0.522 28 161 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43821418 43821418 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:43821418G>A uc001zrt.2 + 4 8214 c.7747G>A c.(7747-7749)GAG>AAG p.E2583K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2583 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGCTGACCCCGAGGGGCTCAG 0.667 9 43 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44943814 44943814 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:44943814T>C uc001ztx.2 - 6 1362 c.1331A>G c.(1330-1332)GAA>GGA p.E444G SPG11_uc010ueh.1_Missense_Mutation_p.E444G|SPG11_uc010uei.1_Missense_Mutation_p.E444G|SPG11_uc001zua.1_Missense_Mutation_p.E444G NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 444 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GCCCATCCTTTCCACTTCCCA 0.453 39 284 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51828679 51828679 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:51828679C>G uc002abf.2 - 12 2223 c.1998G>C c.(1996-1998)TTG>TTC p.L666F DMXL2_uc010ufy.1_Missense_Mutation_p.L666F|DMXL2_uc010bfa.2_Missense_Mutation_p.L666F NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 666 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GAGAGGATGTCAATAACAGTG 0.363 31 155 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54847657 54847657 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:54847657G>C uc002ack.2 + 27 5905 c.5905G>C c.(5905-5907)GGT>CGT p.G1969R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1969 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGATGCCAGGGGTCTGACGCC 0.423 7 48 --- --- --- --- PASS PIGB 9488 broad.mit.edu 37 15 55611485 55611485 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:55611485G>C uc002act.2 + 1 353 c.37G>C c.(37-39)GGG>CGG p.G13R uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 13 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) AATGGAGCCGGGGGGCGGAGA 0.577 3 11 --- --- --- --- PASS TPM1 7168 broad.mit.edu 37 15 63356324 63356324 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:63356324C>G uc002alg.2 + 9 1025 c.834C>G c.(832-834)CTC>CTG p.L278L TPM1_uc002alh.2_Silent_p.L278L|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Intron|TPM1_uc002alj.2_Intron|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Intron|TPM1_uc010uie.1_Silent_p.L278L|TPM1_uc002alp.2_Silent_p.L278L|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Intron|TPM1_uc010uig.1_Intron|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron NM_001018005 NP_001018005 P09493 TPM1_HUMAN tropomyosin 1 alpha chain isoform 1 278 By similarity. cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle 0 ACCACGCTCTCAACGATATGA 0.502 5 42 --- --- --- --- PASS ZNF609 23060 broad.mit.edu 37 15 64967613 64967613 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:64967613G>T uc002ann.2 + 4 2560 c.2560G>T c.(2560-2562)GAT>TAT p.D854Y NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 854 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TGCTGGGGAGGATGGGGAGGG 0.522 23 124 --- --- --- --- PASS ANKDD1A 348094 broad.mit.edu 37 15 65235752 65235752 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:65235752G>T uc002aoa.2 + 11 1068 c.1039G>T c.(1039-1041)GGG>TGG p.G347W ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.G256W NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 347 ANK 10. signal transduction ovary(1) 1 CCTCATTGCTGGGGTTGACTT 0.358 74 391 --- --- --- --- PASS DPP8 54878 broad.mit.edu 37 15 65793003 65793003 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:65793003G>C uc002aov.2 - 4 2113 c.535C>G c.(535-537)CTG>GTG p.L179V DPP8_uc002aow.2_Missense_Mutation_p.L179V|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.L163V|DPP8_uc002aoy.2_Missense_Mutation_p.L179V|DPP8_uc002aoz.2_Missense_Mutation_p.L163V|DPP8_uc010bhj.2_Missense_Mutation_p.L179V|DPP8_uc002apa.2_Missense_Mutation_p.L76V NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 179 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 GCTTGAAACAGAAATGTTCCA 0.403 63 282 --- --- --- --- PASS RPL4 6124 broad.mit.edu 37 15 66793360 66793360 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:66793360C>T uc002apv.2 - 7 816 c.760G>A c.(760-762)GAA>AAA p.E254K RPL4_uc010bhr.2_Missense_Mutation_p.E160K|RPL4_uc002apw.2_Missense_Mutation_p.E160K|RPL4_uc002apx.2_Missense_Mutation_p.E160K|RPL4_uc010ujq.1_3'UTR NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 254 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 AAAGCACTTTCAGTCCAAATG 0.418 24 130 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74573101 74573101 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:74573101A>G uc002axo.2 + 9 1376 c.982A>G c.(982-984)AAA>GAA p.K328E CCDC33_uc002axp.2_Missense_Mutation_p.K150E NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 531 K -> E (in Ref. 1; BAG51911). protein binding ovary(3)|skin(2) 5 GCTGACAGGGAAAGGCTTGGA 0.552 19 104 --- --- --- --- PASS MAN2C1 4123 broad.mit.edu 37 15 75652298 75652298 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:75652298C>T uc002baf.2 - 15 1755 c.1738G>A c.(1738-1740)GTG>ATG p.V580M MAN2C1_uc002bag.2_Missense_Mutation_p.V580M|MAN2C1_uc002bah.2_Missense_Mutation_p.V580M|MAN2C1_uc010bkk.2_Missense_Mutation_p.V481M|MAN2C1_uc010umi.1_Missense_Mutation_p.V362M NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 580 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CTTCCAGTCACCACATCATGG 0.577 8 36 --- --- --- --- PASS CHRNB4 1143 broad.mit.edu 37 15 78922232 78922232 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:78922232C>A uc002bed.1 - 5 527 c.415G>T c.(415-417)GGC>TGC p.G139C CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 139 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 AGGACGCTGCCGTTGGACCGG 0.572 15 41 --- --- --- --- PASS BNC1 646 broad.mit.edu 37 15 83933054 83933054 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:83933054T>C uc002bjt.1 - 4 1037 c.949A>G c.(949-951)AGC>GGC p.S317G BNC1_uc010uos.1_Missense_Mutation_p.S305G NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 317 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AAATGGGTGCTGTCTTCTTTT 0.428 62 139 --- --- --- --- PASS ZNF592 9640 broad.mit.edu 37 15 85326210 85326210 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:85326210C>T uc002bld.2 + 4 640 c.304C>T c.(304-306)CCA>TCA p.P102S ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 102 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGATCTGCCTCCAGATCCCCA 0.502 37 88 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85478750 85478750 + Splice_Site SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:85478750G>A uc002blg.2 + 15 1783 c.1581_splice c.e15+1 p.S527_splice SLC28A1_uc010bnb.2_Splice_Site_p.S527_splice|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Splice_Site_p.S527_splice|SLC28A1_uc010upg.1_Splice_Site_p.S527_splice NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGGATCTCCGTGAGTGTCCC 0.647 56 93 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86807964 86807964 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:86807964C>A uc002blz.1 + 10 1504 c.1424C>A c.(1423-1425)ACC>AAC p.T475N AGBL1_uc002bma.1_Missense_Mutation_p.T206N|AGBL1_uc002bmb.1_Missense_Mutation_p.T169N NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 475 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GCCAGAAGAACCAGCTCTGTG 0.483 70 148 --- --- --- --- PASS DET1 55070 broad.mit.edu 37 15 89074044 89074044 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:89074044C>A uc002bmr.2 - 2 1045 c.893G>T c.(892-894)CGG>CTG p.R298L DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R309L NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 298 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TACCAGCAACCGGTGTTTGAG 0.532 12 72 --- --- --- --- PASS C15orf42 90381 broad.mit.edu 37 15 90149999 90149999 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:90149999G>C uc002boe.2 + 14 2665 c.2665G>C c.(2665-2667)GAG>CAG p.E889Q NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 889 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CATGTTTCAGGAGAACTCTCA 0.303 8 82 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 90996132 90996132 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:90996132C>G uc002bpl.1 + 12 1389 c.1288C>G c.(1288-1290)CAG>GAG p.Q430E NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 430 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CGATCTCTATCAGAAGGAGCT 0.512 4 53 --- --- --- --- PASS SV2B 9899 broad.mit.edu 37 15 91827444 91827444 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:91827444G>C uc002bqv.2 + 10 2092 c.1701G>C c.(1699-1701)AAG>AAC p.K567N SV2B_uc010uqv.1_Missense_Mutation_p.K416N|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 567 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GAAGGCTCAAGATGATTGGTG 0.473 28 139 --- --- --- --- PASS LASS3 204219 broad.mit.edu 37 15 100996212 100996212 + Silent SNP G C C rs149637953 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr15:100996212G>C uc002bvz.2 - 12 1387 c.885C>G c.(883-885)CTC>CTG p.L295L LASS3_uc002bwa.2_Silent_p.L306L|LASS3_uc002bwb.2_Silent_p.L295L NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 295 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) AGAAAGGCTCGAGGTGATACA 0.388 18 63 --- --- --- --- PASS RAB11FIP3 9727 broad.mit.edu 37 16 553072 553072 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:553072G>C uc002chf.2 + 7 1709 c.1370G>C c.(1369-1371)GGC>GCC p.G457A RAB11FIP3_uc010uuf.1_Missense_Mutation_p.G161A|RAB11FIP3_uc010uug.1_Missense_Mutation_p.G192A NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 457 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) CTCATGGAGGGCCCAGAGGAG 0.602 20 114 --- --- --- --- PASS MSLN 10232 broad.mit.edu 37 16 815722 815722 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:815722C>T uc002cjw.1 + 10 878 c.827C>T c.(826-828)TCT>TTT p.S276F MSLN_uc002cjt.1_Missense_Mutation_p.S276F|MSLN_uc002cju.1_Missense_Mutation_p.S276F|MSLN_uc010brd.1_Missense_Mutation_p.S275F|MSLN_uc002cjv.1_Missense_Mutation_p.S276F|MSLN_uc002cjx.1_Missense_Mutation_p.S276F|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 276 Required for megakaryocyte-potentiating factor activity. cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) CAACGCTCCTCTCGGGACCCA 0.716 5 46 --- --- --- --- PASS RPUSD1 113000 broad.mit.edu 37 16 837161 837161 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:837161C>G uc002cka.2 - 3 559 c.325G>C c.(325-327)GAG>CAG p.E109Q RPUSD1_uc002ckb.2_Missense_Mutation_p.E109Q|RPUSD1_uc002ckc.2_5'UTR|RPUSD1_uc002ckd.2_Intron|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 109 pseudouridine synthesis pseudouridine synthase activity|RNA binding 0 Hepatocellular(780;0.00335) ACCCGGCTCTCCTGGATGTGC 0.662 3 24 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1257399 1257399 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:1257399T>C uc002cks.2 + 14 3280 c.3032T>C c.(3031-3033)GTG>GCG p.V1011A CACNA1H_uc002ckt.2_Missense_Mutation_p.V1011A|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1011 II.|Helical; Name=S6 of repeat II; (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AACCTGCTGGTGGCCATCCTC 0.647 4 22 --- --- --- --- PASS TRAF7 84231 broad.mit.edu 37 16 2223818 2223818 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:2223818G>A uc002cow.2 + 12 1215 c.1116G>A c.(1114-1116)CTG>CTA p.L372L NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 372 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 ACGCGCGGCTGAACATGGGCA 0.697 3 35 --- --- --- --- PASS MLST8 64223 broad.mit.edu 37 16 2257038 2257038 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:2257038C>T uc002coz.2 + 5 466 c.347C>T c.(346-348)TCC>TTC p.S116F MLST8_uc002coy.2_Missense_Mutation_p.S116F|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.S115F|MLST8_uc010uvx.1_Missense_Mutation_p.S50F|MLST8_uc002cpc.2_Missense_Mutation_p.S116F|MLST8_uc002cpd.2_Missense_Mutation_p.S50F|MLST8_uc002cpe.2_Missense_Mutation_p.S116F|MLST8_uc002cpg.2_Missense_Mutation_p.S135F|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.S116F NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 116 WD 3. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 GCCCGCAGGTCCCGGAACCTG 0.662 36 117 --- --- --- --- PASS C16orf79 283870 broad.mit.edu 37 16 2260557 2260557 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:2260557C>G uc010bsh.2 - 2 323 c.146G>C c.(145-147)GGA>GCA p.G49A C16orf79_uc002cpi.1_Missense_Mutation_p.G49A NM_182563 NP_872369 Q6PL45 CP079_HUMAN hypothetical protein LOC283870 49 Helical; (Potential). integral to membrane central_nervous_system(1) 1 AAGAAGCCCTCCAGCCACAAC 0.557 11 24 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2814714 2814714 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:2814714G>A uc002crk.2 + 11 4734 c.4185G>A c.(4183-4185)GGG>GGA p.G1395G SRRM2_uc002crj.1_Silent_p.G1299G|SRRM2_uc002crl.1_Silent_p.G1395G|SRRM2_uc010bsu.1_Silent_p.G1299G NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1395 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AAAAGGCAGGGATGTCTTCAA 0.458 284 384 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2818169 2818169 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:2818169C>G uc002crk.2 + 11 8189 c.7640C>G c.(7639-7641)TCA>TGA p.S2547* SRRM2_uc002crj.1_Nonsense_Mutation_p.S2451*|SRRM2_uc002crl.1_Nonsense_Mutation_p.S2547*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.S2451* NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2547 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 tcttcttcatcatcgtcgtcg 0.403 5 40 --- --- --- --- PASS MEFV 4210 broad.mit.edu 37 16 3304485 3304485 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:3304485C>G uc002cun.1 - 2 623 c.583G>C c.(583-585)GAG>CAG p.E195Q NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 195 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) TGGCCCCCCTCTAGCGCCCTG 0.781 3 17 --- --- --- --- PASS ZNF75A 7627 broad.mit.edu 37 16 3367379 3367379 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:3367379G>C uc002cut.3 + 6 927 c.401G>C c.(400-402)AGA>ACA p.R134T ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GTGAAGAAAAGAAAGAAACTT 0.398 18 95 --- --- --- --- PASS ZNF75A 7627 broad.mit.edu 37 16 3367399 3367399 + Missense_Mutation SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:3367399A>C uc002cut.3 + 6 947 c.421A>C c.(421-423)AAA>CAA p.K141Q ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TTCAACCTGGAAACAAGAGCT 0.398 14 109 --- --- --- --- PASS ZNF434 54925 broad.mit.edu 37 16 3433224 3433224 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:3433224C>G uc002cuz.2 - 6 1888 c.1086G>C c.(1084-1086)GAG>GAC p.E362D ZNF434_uc002cux.3_Missense_Mutation_p.E573D|ZNF434_uc010uwx.1_Missense_Mutation_p.E285D|ZNF434_uc002cuy.3_Missense_Mutation_p.E285D NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GATAGGGCCTCTCCCCTGTGT 0.562 21 131 --- --- --- --- PASS ADCY9 115 broad.mit.edu 37 16 4164000 4164000 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:4164000C>G uc002cvx.2 - 2 1983 c.1444G>C c.(1444-1446)GAG>CAG p.E482Q NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 482 Cytoplasmic (Potential).|Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 TTCACCATCTCCTTCTTCTCC 0.597 41 177 --- --- --- --- PASS ERCC4 2072 broad.mit.edu 37 16 14026042 14026042 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:14026042G>A uc002dce.2 + 6 1011 c.1002G>A c.(1000-1002)TCG>TCA p.S334S ERCC4_uc010bva.2_Silent_p.S334S|ERCC4_uc010uyz.1_5'UTR NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 334 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 CCAGCACCTCGATGTTTATAA 0.338 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 34 187 --- --- --- --- PASS MPV17L 255027 broad.mit.edu 37 16 15494693 15494693 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:15494693G>C uc002ddn.2 + 2 504 c.360G>C c.(358-360)CAG>CAC p.Q120H MPV17L_uc002ddm.2_Intron NM_001128423 NP_001121895 Q2QL34 MP17L_HUMAN MPV17 mitochondrial membrane protein-like 120 Lumenal. integral to membrane|peroxisomal membrane 0 ACCTGAAACAGAAATTCTGGA 0.254 8 28 --- --- --- --- PASS KIAA0430 9665 broad.mit.edu 37 16 15702352 15702352 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:15702352C>G uc002ddr.2 - 21 4171 c.3978G>C c.(3976-3978)AAG>AAC p.K1326N KIAA0430_uc002ddq.2_Missense_Mutation_p.K1160N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K1322N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K1325N NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1325 peroxisome nucleotide binding|RNA binding 0 GAGTAAGGATCTTTTCTTCTC 0.423 13 62 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16205279 16205279 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:16205279C>A uc010bvi.2 + 22 3094 c.2919C>A c.(2917-2919)TTC>TTA p.F973L ABCC1_uc010bvj.2_Missense_Mutation_p.F914L|ABCC1_uc010bvk.2_Missense_Mutation_p.F917L|ABCC1_uc010bvl.2_Missense_Mutation_p.F973L|ABCC1_uc010bvm.2_Missense_Mutation_p.F858L|ABCC1_uc002del.3_Missense_Mutation_p.F867L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 973 Helical; Name=12. 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) TCGGACTCTTCATCTCCTTCC 0.493 38 170 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20636813 20636813 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:20636813C>T uc002dhm.1 - 11 1527 c.1459G>A c.(1459-1461)GCT>ACT p.A487T ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.A487T NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 487 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 TCCACCAAAGCGCTTTCAACC 0.602 8 38 --- --- --- --- PASS TNRC6A 27327 broad.mit.edu 37 16 24788259 24788259 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:24788259G>C uc002dmm.2 + 5 283 c.169G>C c.(169-171)GAA>CAA p.E57Q TNRC6A_uc010bxs.2_5'UTR NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 57 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ATTAGTGCCAGAACAGATAAA 0.433 13 79 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24902291 24902291 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:24902291G>A uc002dmu.2 + 9 998 c.766G>A c.(766-768)GAT>AAT p.D256N SLC5A11_uc002dms.2_Missense_Mutation_p.D192N|SLC5A11_uc010vcd.1_Missense_Mutation_p.D221N|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.D186N|SLC5A11_uc010bxt.2_Missense_Mutation_p.D192N NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 256 Extracellular (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) GCCCCGGGAAGATGCCTTCCA 0.577 41 157 --- --- --- --- PASS JMJD5 79831 broad.mit.edu 37 16 27221543 27221543 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:27221543G>C uc002doh.2 + 2 281 c.99G>C c.(97-99)CTG>CTC p.L33L JMJD5_uc010bxv.2_Silent_p.L33L|JMJD5_uc010vcn.1_Silent_p.L71L|JMJD5_uc010bxw.2_Silent_p.L33L NM_024773 NP_079049 Q8N371 KDM8_HUMAN jumonji domain containing 5 isoform 2 33 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(2)|upper_aerodigestive_tract(1) 3 AAGAAGACCTGAAGTTGGACC 0.612 11 64 --- --- --- --- PASS IL4R 3566 broad.mit.edu 37 16 27363887 27363887 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:27363887A>G uc002don.2 + 7 782 c.540A>G c.(538-540)CTA>CTG p.L180L IL4R_uc002dom.2_Silent_p.L180L|IL4R_uc002dop.3_Silent_p.L165L|IL4R_uc010bxy.2_Silent_p.L180L|IL4R_uc002doo.2_Silent_p.L20L NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 180 Extracellular (Potential).|Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 TGACCTACCTAGAACCCTCCC 0.597 31 95 --- --- --- --- PASS ATP2A1 487 broad.mit.edu 37 16 28914161 28914161 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:28914161C>T uc002dro.1 + 19 2857 c.2673C>T c.(2671-2673)TTC>TTT p.F891F uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.F891F|ATP2A1_uc002drp.1_Silent_p.F766F NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 891 Lumenal (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGAGGTCTTCGAGGCCCCCG 0.617 7 23 --- --- --- --- PASS ZNF48 197407 broad.mit.edu 37 16 30409555 30409555 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:30409555G>A uc002dya.1 + 2 1043 c.984G>A c.(982-984)GAG>GAA p.E328E ZNF48_uc002dxz.1_Silent_p.E205E NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACACGGGTGAGAAGCCCTACC 0.637 13 68 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31091514 31091514 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:31091514G>A uc002eap.2 + 2 4158 c.3869G>A c.(3868-3870)CGA>CAA p.R1290Q NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 GGGGGCACCCGAAAGGCGACT 0.701 6 27 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31091695 31091695 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:31091695G>C uc002eap.2 + 2 4339 c.4050G>C c.(4048-4050)GAG>GAC p.E1350D NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TGCACTCAGAGAATCGGCGGC 0.687 8 52 --- --- --- --- PASS PRSS53 339105 broad.mit.edu 37 16 31098057 31098057 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:31098057G>C uc002eaq.2 - 4 405 c.405C>G c.(403-405)GCC>GCG p.A135A PRSS53_uc002ear.2_5'UTR NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN polyserase 3 precursor 135 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity 0 TCGTGGGGTGGGCGAGCTGCA 0.687 10 41 --- --- --- --- PASS PRSS36 146547 broad.mit.edu 37 16 31150511 31150511 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:31150511G>T uc002ebd.2 - 15 2575 c.2516C>A c.(2515-2517)TCC>TAC p.S839Y PRSS36_uc010vff.1_Missense_Mutation_p.S614Y|PRSS36_uc010vfg.1_Missense_Mutation_p.S834Y|PRSS36_uc010vfh.1_Missense_Mutation_p.S736Y NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 839 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 TGCATGCGGGGATCCCGAGGC 0.637 16 74 --- --- --- --- PASS GPT2 84706 broad.mit.edu 37 16 46931634 46931634 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:46931634C>T uc002eel.2 + 3 412 c.318C>T c.(316-318)ATC>ATT p.I106I GPT2_uc002eem.2_Silent_p.I6I NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 106 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGCAGCCAATCACCTTCCTCC 0.662 35 32 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50348317 50348317 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:50348317G>T uc002egd.1 + 23 3239 c.2971G>T c.(2971-2973)GGC>TGC p.G991C NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 991 Cytoplasmic (Potential).|Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CCTCCGCGTCGGTGAGCCCGG 0.607 14 16 --- --- --- --- PASS NKD1 85407 broad.mit.edu 37 16 50655581 50655581 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:50655581G>A uc002egg.1 + 5 552 c.328G>A c.(328-330)GAA>AAA p.E110K NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 110 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GAGAGTGAGCGAACCCTGCCC 0.567 8 47 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50821699 50821699 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:50821699C>A uc002egp.1 + 14 2459 c.2044C>A c.(2044-2046)CCT>ACT p.P682T CYLD_uc010cbs.1_Missense_Mutation_p.P679T|CYLD_uc002egq.1_Missense_Mutation_p.P679T|CYLD_uc002egr.1_Missense_Mutation_p.P679T NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 682 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TCTCCTAGATCCTGAGGAATT 0.254 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 18 32 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175747 51175747 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:51175747G>T uc010vgs.1 - 2 417 c.386C>A c.(385-387)GCC>GAC p.A129D SALL1_uc010vgr.1_Missense_Mutation_p.A32D|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 129 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) AGCAACCGGGGCCTCCACCTC 0.438 54 58 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56933518 56933518 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:56933518C>G uc010ccm.2 + 23 2739 c.2710C>G c.(2710-2712)CGG>GGG p.R904G SLC12A3_uc002ekd.3_Missense_Mutation_p.R913G|SLC12A3_uc010ccn.2_Missense_Mutation_p.R912G NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 904 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCAGAACCCTCGGGCTGAGCA 0.547 6 172 --- --- --- --- PASS KIAA0895L 653319 broad.mit.edu 37 16 67214480 67214480 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:67214480G>C uc002ert.2 - 2 809 c.34C>G c.(34-36)CAG>GAG p.Q12E KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.Q12E|EXOC3L_uc002erv.1_RNA NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN hypothetical protein LOC653319 12 0 GGGGGTGCCTGATCATACGCC 0.642 10 39 --- --- --- --- PASS FHOD1 29109 broad.mit.edu 37 16 67264021 67264021 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:67264021C>G uc002esl.2 - 20 3274 c.3162G>C c.(3160-3162)AAG>AAC p.K1054N FHOD1_uc002esk.2_Missense_Mutation_p.K113N|FHOD1_uc010ced.2_Missense_Mutation_p.K861N NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1054 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TCAGCAGACTCTTCATACTAG 0.627 36 198 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67314196 67314196 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:67314196G>C uc002eso.3 + 1 2784 c.249G>C c.(247-249)CAG>CAC p.Q83H PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Missense_Mutation_p.Q83H|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Missense_Mutation_p.Q83H|PLEKHG4_uc002ess.3_Missense_Mutation_p.Q83H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.Q83H NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 83 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GGGATGCCCAGAGGGGCACAG 0.627 6 51 --- --- --- --- PASS LRRC36 55282 broad.mit.edu 37 16 67409289 67409289 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:67409289C>G uc002esv.2 + 10 1653 c.1634C>G c.(1633-1635)TCC>TGC p.S545C LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.S424C|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Missense_Mutation_p.P66A|LRRC36_uc002esy.2_Missense_Mutation_p.S55C NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 isoform 1 545 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GGCTCCGGCTCCCTCCTCCTC 0.542 77 290 --- --- --- --- PASS EDC4 23644 broad.mit.edu 37 16 67912273 67912273 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:67912273G>A uc002eur.2 + 9 1181 c.1015G>A c.(1015-1017)GAG>AAG p.E339K EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.E271K|EDC4_uc010ces.1_Missense_Mutation_p.E182K|EDC4_uc002eus.2_Missense_Mutation_p.E69K NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 339 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GTGTCTGCACGAGTGGAAACC 0.607 5 166 --- --- --- --- PASS SLC12A4 6560 broad.mit.edu 37 16 67980942 67980942 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:67980942G>C uc002euz.2 - 17 2280 c.2139C>G c.(2137-2139)ACC>ACG p.T713T LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.T707T|SLC12A4_uc010vkh.1_Silent_p.T682T|SLC12A4_uc010vki.1_Silent_p.T713T|SLC12A4_uc010vkj.1_Silent_p.T715T|SLC12A4_uc002eva.2_Silent_p.T713T|SLC12A4_uc010cev.1_RNA|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 713 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGGAGGCGAAGGTGAGGAGCC 0.657 6 31 --- --- --- --- PASS CIRH1A 84916 broad.mit.edu 37 16 69199280 69199280 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:69199280G>T uc002ews.3 + 15 1780 c.1684G>T c.(1684-1686)GAT>TAT p.D562Y CIRH1A_uc002ewr.2_Missense_Mutation_p.D562Y|CIRH1A_uc002ewt.3_Missense_Mutation_p.D479Y|CIRH1A_uc010cfi.2_Missense_Mutation_p.D364Y NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 562 WD 11. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACAGTATACAGATTGGAGCCG 0.488 16 86 --- --- --- --- PASS KIAA0174 9798 broad.mit.edu 37 16 71956497 71956497 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:71956497G>C uc002fbj.1 + 9 995 c.712G>C c.(712-714)GAT>CAT p.D238H KIAA0174_uc010cgh.1_Missense_Mutation_p.D238H|KIAA0174_uc002fbk.1_Missense_Mutation_p.D225H|KIAA0174_uc002fbm.1_Missense_Mutation_p.D225H|KIAA0174_uc002fbl.1_Missense_Mutation_p.D225H|KIAA0174_uc002fbn.1_Missense_Mutation_p.D77H|KIAA0174_uc010cgi.1_5'UTR|KIAA0174_uc010cgj.1_Missense_Mutation_p.D157H|KIAA0174_uc010vml.1_RNA|KIAA0174_uc010vmk.1_Missense_Mutation_p.D77H P53990 IST1_HUMAN SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725; 225 Interaction with VPS37B.|Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding ovary(1) 1 TGGTGGACCTGATGGAACGGt 0.388 3 135 --- --- --- --- PASS CHST6 4166 broad.mit.edu 37 16 75512624 75512624 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:75512624C>G uc002fef.2 - 3 1283 c.1103G>C c.(1102-1104)CGC>CCC p.R368P CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R368P NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 368 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GGCGAGGTTGCGCTGCTCGTC 0.637 54 53 --- --- --- --- PASS ADAT1 23536 broad.mit.edu 37 16 75642805 75642805 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:75642805C>G uc002feo.1 - 8 1227 c.1125G>C c.(1123-1125)CAG>CAC p.Q375H ADAT1_uc002fep.1_Missense_Mutation_p.Q226H NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 375 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 CACTGCGGCTCTGTTCAAATA 0.463 22 97 --- --- --- --- PASS ADAT1 23536 broad.mit.edu 37 16 75642880 75642880 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:75642880C>G uc002feo.1 - 8 1152 c.1050G>C c.(1048-1050)CAG>CAC p.Q350H ADAT1_uc002fep.1_Missense_Mutation_p.Q201H NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 350 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 CAGACACATTCTGACACCTAA 0.428 22 94 --- --- --- --- PASS KIAA1609 57707 broad.mit.edu 37 16 84514298 84514298 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:84514298T>C uc002fib.2 - 7 1201 c.1094A>G c.(1093-1095)CAC>CGC p.H365R KIAA1609_uc010vod.1_Missense_Mutation_p.H338R|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 365 TLD. protein binding ovary(2) 2 AAAGTAATTGTGCTGCCCCCC 0.557 24 56 --- --- --- --- PASS CBFA2T3 863 broad.mit.edu 37 16 88945803 88945803 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:88945803C>G uc002fmm.1 - 11 1723 c.1537G>C c.(1537-1539)GAG>CAG p.E513Q CBFA2T3_uc002fml.1_Missense_Mutation_p.E427Q|CBFA2T3_uc002fmk.1_Missense_Mutation_p.E12Q NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 513 Potential. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCTTTGCGCTCCGCGTCCGAC 0.662 T RUNX1 AML 7 51 --- --- --- --- PASS ZNF778 197320 broad.mit.edu 37 16 89293455 89293455 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr16:89293455G>A uc002fmv.2 + 6 1014 c.675G>A c.(673-675)TGG>TGA p.W225* ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Nonsense_Mutation_p.W183*|ZNF778_uc010vpg.1_5'UTR NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) AAGAAACATGGAAATGGAAGC 0.522 37 221 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1554484 1554484 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:1554484C>G uc002fte.2 - 42 6885 c.6771G>C c.(6769-6771)GAG>GAC p.E2257D RILP_uc002ftd.2_5'Flank NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 2257 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCTGCACCCTCTCATAGTGTG 0.582 6 47 --- --- --- --- PASS KIAA0664 23277 broad.mit.edu 37 17 2604712 2604712 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:2604712C>T uc002fuy.1 - 6 819 c.733G>A c.(733-735)GAG>AAG p.E245K KIAA0664_uc002fux.1_Missense_Mutation_p.E177K NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 245 binding breast(2) 2 TGCCGGTCCTCGGCTGTGATC 0.622 6 9 --- --- --- --- PASS ITGAE 3682 broad.mit.edu 37 17 3665221 3665221 + Missense_Mutation SNP G T T rs112400595 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:3665221G>T uc002fwo.3 - 4 402 c.303C>A c.(301-303)CAC>CAA p.H101Q NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 101 FG-GAP 2.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AAACACCGTGGTGGCTCCGGA 0.612 17 38 --- --- --- --- PASS ANKFY1 51479 broad.mit.edu 37 17 4085544 4085544 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:4085544C>G uc002fxq.1 - 15 2091 c.2053G>C c.(2053-2055)GAT>CAT p.D685H ANKFY1_uc002fxn.2_Missense_Mutation_p.D727H|ANKFY1_uc002fxo.2_Missense_Mutation_p.D686H|ANKFY1_uc002fxp.2_Missense_Mutation_p.D684H|ANKFY1_uc010ckp.2_Missense_Mutation_p.D627H NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 685 endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 CCCTTCTCATCTGGCACAGAC 0.562 49 200 --- --- --- --- PASS VMO1 284013 broad.mit.edu 37 17 4689561 4689561 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:4689561C>G uc002fyx.2 - 1 169 c.87G>C c.(85-87)CGG>CGC p.R29R VMO1_uc010vsh.1_Silent_p.R29R|VMO1_uc010vsi.1_Silent_p.R29R|VMO1_uc002fyy.2_Silent_p.R29R|GLTPD2_uc002fza.1_5'Flank NM_182566 NP_872372 Q7Z5L0 VMO1_HUMAN vitelline membrane outer layer 1 isoform 1 29 vitelline membrane formation extracellular region ovary(1) 1 TGTAGCCGTTCCGGCCATCTG 0.557 7 44 --- --- --- --- PASS SPEM1 374768 broad.mit.edu 37 17 7324338 7324338 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:7324338G>A uc002ggv.2 + 3 369 c.344G>A c.(343-345)CGA>CAA p.R115Q FGF11_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 115 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane 0 Prostate(122;0.173) CATCGCCGTCGAGGCTCTCCC 0.607 14 57 --- --- --- --- PASS EIF4A1 1973 broad.mit.edu 37 17 7481183 7481183 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:7481183G>C uc002gho.1 + 17 2270 c.945G>C c.(943-945)ATG>ATC p.M315I EIF4A1_uc002ghr.1_Missense_Mutation_p.M315I|EIF4A1_uc002ghq.1_Missense_Mutation_p.M315I|EIF4A1_uc002ghp.1_Missense_Mutation_p.M315I|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 315 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 ACGTGATTATGAGGGAGTTTC 0.498 4 98 --- --- --- --- PASS EIF4A1 1973 broad.mit.edu 37 17 7481745 7481745 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:7481745G>C uc002gho.1 + 19 2487 c.1162G>C c.(1162-1164)GAG>CAG p.E388Q EIF4A1_uc002ghr.1_3'UTR|EIF4A1_uc002ghq.1_3'UTR|EIF4A1_uc002ghp.1_Missense_Mutation_p.E388Q|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 388 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 TCGAGACATTGAGACCTTCTA 0.522 4 128 --- --- --- --- PASS FXR2 9513 broad.mit.edu 37 17 7498076 7498076 + Splice_Site SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:7498076C>G uc002gia.1 - 9 1059 c.832_splice c.e9-1 p.T278_splice FXR2_uc010vud.1_Splice_Site_p.T278_splice NM_004860 NP_004851 P51116 FXR2_HUMAN fragile X mental retardation syndrome related cytosolic large ribosomal subunit protein binding|RNA binding 0 READ - Rectum adenocarcinoma(115;0.17) CCTCGGGAGTCTAAAGGAAGA 0.363 12 76 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7695336 7695336 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:7695336G>C uc002giu.1 + 44 7016 c.7002G>C c.(7000-7002)CGG>CGC p.R2334R NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2334 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGAGGGCCGGAAGAGGATCG 0.547 31 158 --- --- --- --- PASS KDM6B 23135 broad.mit.edu 37 17 7751800 7751800 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:7751800C>G uc002giw.1 + 11 2570 c.2194C>G c.(2194-2196)CTG>GTG p.L732V KDM6B_uc002gix.2_Missense_Mutation_p.L34V NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 732 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CTTTGCATCTCTGCAGTCTCC 0.478 26 74 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9830003 9830003 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:9830003G>A uc002gmg.1 - 10 1130 c.969C>T c.(967-969)GCC>GCT p.A323A GAS7_uc010vvc.1_Silent_p.A137A|GAS7_uc002gmh.1_Silent_p.A183A|GAS7_uc010vvd.1_Silent_p.A275A|GAS7_uc002gmi.2_Silent_p.A259A|GAS7_uc002gmj.1_Silent_p.A263A|GAS7_uc010coh.1_Silent_p.A263A NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 323 Potential. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TGCGAAGGTCGGCAATGTGGT 0.592 T MLL AML* 12 79 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10231375 10231375 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:10231375C>G uc002gmk.1 - 22 2589 c.2499G>C c.(2497-2499)TGG>TGC p.W833C NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 833 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACAGGTTCATCCAGGGCCAGT 0.483 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 58 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10417367 10417367 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:10417367C>A uc002gmo.2 - 7 702 c.608G>T c.(607-609)GGG>GTG p.G203V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 203 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 CTTCTTCTCCCCAGTAACTGC 0.473 50 76 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12666889 12666889 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:12666889C>G uc002gnn.2 + 13 3044 c.2745C>G c.(2743-2745)TTC>TTG p.F915L MYOCD_uc002gno.2_Missense_Mutation_p.F963L|MYOCD_uc002gnq.2_Missense_Mutation_p.F639L NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 915 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCAGCATCTTCAACATCGATT 0.517 33 58 --- --- --- --- PASS PRPSAP2 5636 broad.mit.edu 37 17 18775920 18775920 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:18775920C>G uc002gup.1 + 5 408 c.197C>G c.(196-198)TCT>TGT p.S66C PRPSAP2_uc002guo.1_5'UTR|PRPSAP2_uc010vyi.1_Intron|PRPSAP2_uc010vyj.1_5'UTR|PRPSAP2_uc010vyk.1_Missense_Mutation_p.S54C NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 66 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 ATTCAAGAGTCTGTGAGGGGA 0.353 57 283 --- --- --- --- PASS USP22 23326 broad.mit.edu 37 17 20922416 20922416 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:20922416G>A uc002gym.3 - 4 705 c.501C>T c.(499-501)ATC>ATT p.I167I USP22_uc002gyn.3_Silent_p.I155I|USP22_uc002gyl.3_Silent_p.I62I NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 167 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 AGTTCGAGGTGATCTTTCTCC 0.468 5 260 --- --- --- --- PASS LIG3 3980 broad.mit.edu 37 17 33323664 33323664 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:33323664G>A uc002hik.1 + 11 1923 c.1815G>A c.(1813-1815)TTG>TTA p.L605L LIG3_uc002hij.2_Silent_p.L605L NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 605 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) ATGTCAGCTTGATGGACAGGT 0.438 Other_BER_factors 45 214 --- --- --- --- PASS MMP28 79148 broad.mit.edu 37 17 34095265 34095265 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:34095265G>A uc002hjy.1 - 8 1243 c.984C>T c.(982-984)TTC>TTT p.F328F MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 328 Hemopexin-like 1. proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGATGGCATCGAAGGAAGAGT 0.532 26 30 --- --- --- --- PASS PLEKHH3 79990 broad.mit.edu 37 17 40825296 40825296 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:40825296C>G uc002iau.2 - 6 1134 c.667G>C c.(667-669)GAG>CAG p.E223Q PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.E223Q NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 223 signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GCAACGGCCTCTGGGTCCCCG 0.607 34 136 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42513912 42513912 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:42513912C>T uc002igw.1 - 4 259 c.195G>A c.(193-195)GGG>GGA p.G65G GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 65 G-patch. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GATCTGTTCTCCCTGTAACAG 0.423 51 70 --- --- --- --- PASS PLEKHM1 9842 broad.mit.edu 37 17 43531171 43531171 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:43531171C>G uc002ija.2 - 7 2217 c.2047G>C c.(2047-2049)GAT>CAT p.D683H PLEKHM1_uc010wjm.1_Missense_Mutation_p.D655H|PLEKHM1_uc002ijb.2_Missense_Mutation_p.D158H|PLEKHM1_uc010wjn.1_Missense_Mutation_p.D632H|PLEKHM1_uc002ijc.2_Missense_Mutation_p.D137H NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 683 PH 2. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) TTGATGGCATCTGGCTCTGGA 0.592 23 120 --- --- --- --- PASS HOXB9 3219 broad.mit.edu 37 17 46700471 46700471 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:46700471C>T uc002inx.2 - 2 748 c.544G>A c.(544-546)GCT>ACT p.A182T NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 182 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAAGAGCGAGCGTGCAGCCAG 0.547 35 158 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48263143 48263143 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:48263143C>A uc002iqm.2 - 50 4370 c.4244G>T c.(4243-4245)TGC>TTC p.C1415F NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 1415 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) ACTCACCGTGCAGCCATCGAC 0.637 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 13 50 --- --- --- --- PASS EPN3 55040 broad.mit.edu 37 17 48616632 48616632 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:48616632G>C uc002ira.3 + 5 1282 c.847G>C c.(847-849)GAG>CAG p.E283Q EPN3_uc010wms.1_Missense_Mutation_p.E311Q|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E256Q NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 283 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CAGAGAGCCTGAGAGAGAAGA 0.577 14 79 --- --- --- --- PASS MMD 23531 broad.mit.edu 37 17 53499048 53499048 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:53499048G>C uc002iui.2 - 1 294 c.9C>G c.(7-9)TTC>TTG p.F3L NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 3 Cytoplasmic (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 ATCGATTCTTGAACCGCATTG 0.577 4 127 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54428250 54428250 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:54428250G>A uc002iun.1 + 4 356 c.321G>A c.(319-321)CTG>CTA p.L107L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 107 large_intestine(1)|ovary(1) 2 CTGAGAAACTGAAAGGGAGCC 0.443 17 83 --- --- --- --- PASS COIL 8161 broad.mit.edu 37 17 55027748 55027748 + Silent SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:55027748A>T uc002iuu.2 - 2 886 c.855T>A c.(853-855)TCT>TCA p.S285S NM_004645 NP_004636 P38432 COIL_HUMAN coilin 285 Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) TATTTTTGGTAGAGGGTTCTT 0.438 52 273 --- --- --- --- PASS SKA2 348235 broad.mit.edu 37 17 57208656 57208656 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:57208656C>G uc002ixd.2 - 2 382 c.106G>C c.(106-108)GAT>CAT p.D36H SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Silent_p.L67L|SKA2_uc002ixe.2_RNA NM_182620 NP_872426 Q8WVK7 SKA2_HUMAN spindle and KT associated 2 isoform 1 36 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 CTTGCTGAATCAGGATGATTA 0.328 3 14 --- --- --- --- PASS ICAM2 3384 broad.mit.edu 37 17 62081218 62081218 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:62081218G>C uc002jdu.3 - 3 667 c.435C>G c.(433-435)CTC>CTG p.L145L C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Silent_p.L145L|ICAM2_uc010ded.2_Silent_p.L145L|ICAM2_uc002jdx.3_Silent_p.L145L|ICAM2_uc002jdv.3_Silent_p.L145L NM_000873 NP_000864 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 precursor 145 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding ovary(1) 1 GGAAGAGGGTGAGGCTGTCCA 0.607 15 75 --- --- --- --- PASS RGS9 8787 broad.mit.edu 37 17 63221470 63221470 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:63221470G>C uc002jfe.2 + 18 1868 c.1758G>C c.(1756-1758)CTG>CTC p.L586L RGS9_uc010dem.2_Silent_p.L583L|RGS9_uc002jfd.2_Silent_p.L583L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.L357L NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 586 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 GCAGGTTTCTGAGACGAGGCT 0.682 24 220 --- --- --- --- PASS CCDC46 201134 broad.mit.edu 37 17 63898434 63898434 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:63898434C>G uc002jfl.2 - 20 2218 c.1999G>C c.(1999-2001)GAG>CAG p.E667Q CCDC46_uc010deo.2_Missense_Mutation_p.E409Q|CCDC46_uc002jfm.2_Missense_Mutation_p.E667Q|CCDC46_uc010dep.2_Missense_Mutation_p.E625Q NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 667 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TGTTCATGCTCCAGCTTCAGC 0.438 16 99 --- --- --- --- PASS MIR548D2 693131 broad.mit.edu 37 17 65467626 65467626 + RNA SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:65467626G>C hsa-mir-548d-2|MI0003671 - c.76G>C PITPNC1_uc002jgb.2_Intron|PITPNC1_uc002jgc.2_Intron 0 tggtgcaaaagaaactgtggt 0.095 4 18 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 66992106 66992106 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:66992106A>G uc002jhu.2 - 26 3628 c.3485T>C c.(3484-3486)CTA>CCA p.L1162P ABCA9_uc010dez.2_Missense_Mutation_p.L1124P NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1162 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) AAATAGCCCTAGAAATCCATA 0.373 18 90 --- --- --- --- PASS DNAI2 64446 broad.mit.edu 37 17 72285829 72285829 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:72285829G>T uc002jkf.2 + 5 663 c.564G>T c.(562-564)CAG>CAT p.Q188H DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 188 WD 1. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TGGATTTTCAGCGGGCACCTG 0.622 Kartagener_syndrome 13 65 --- --- --- --- PASS CASKIN2 57513 broad.mit.edu 37 17 73499763 73499763 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:73499763C>T uc002joc.2 - 16 2207 c.1657G>A c.(1657-1659)GAG>AAG p.E553K CASKIN2_uc010wsc.1_Missense_Mutation_p.E471K NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 553 cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCAGCCACTCGGCGATGCTG 0.617 16 43 --- --- --- --- PASS EVPL 2125 broad.mit.edu 37 17 74011346 74011346 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:74011346C>T uc002jqi.2 - 16 2218 c.1990G>A c.(1990-1992)GAA>AAA p.E664K EVPL_uc010wss.1_Missense_Mutation_p.E686K|EVPL_uc010wst.1_Missense_Mutation_p.E134K NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 664 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GCCCCCGGTTCAGCAGGGATG 0.682 3 19 --- --- --- --- PASS RNF157 114804 broad.mit.edu 37 17 74148493 74148493 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:74148493C>G uc002jqz.2 - 18 1933 c.1864G>C c.(1864-1866)GAC>CAC p.D622H RNF157_uc002jra.2_Missense_Mutation_p.D600H|uc002jqy.1_Intron NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 622 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) CTTGCGATGTCAAAGTCATTG 0.488 23 131 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76433779 76433779 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:76433779C>G uc010dhp.1 - 19 3199 c.2977G>C c.(2977-2979)GAG>CAG p.E993Q DNAH17_uc002jvq.2_Missense_Mutation_p.E278Q|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTGGGGGGCTCGTTGGTGATC 0.657 12 30 --- --- --- --- PASS TIMP2 7077 broad.mit.edu 37 17 76869934 76869934 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:76869934G>C uc002jwf.2 - 2 500 c.198C>G c.(196-198)ATC>ATG p.I66M TIMP2_uc002jwe.2_Translation_Start_Site|TIMP2_uc010wty.1_Translation_Start_Site NM_003255 NP_003246 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 precursor 66 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) GGATCCTCTTGATAGGGTTGC 0.527 29 96 --- --- --- --- PASS CCDC40 55036 broad.mit.edu 37 17 78021137 78021137 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:78021137C>G uc010dht.2 + 4 639 c.612C>G c.(610-612)TTC>TTG p.F204L CCDC40_uc010wub.1_Missense_Mutation_p.F204L|CCDC40_uc002jxm.3_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 204 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCACCGCTTCCGGCTGAGCC 0.617 7 39 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78272248 78272248 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:78272248C>G uc002jyf.2 + 11 2283 c.2140C>G c.(2140-2142)CAG>GAG p.Q714E uc002jyg.1_Missense_Mutation_p.Q445E NM_020954 NP_066005 hypothetical protein LOC57714 TGCCTGGAGACAGCCTGAGGA 0.582 18 53 --- --- --- --- PASS BAIAP2 10458 broad.mit.edu 37 17 79077806 79077806 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:79077806A>G uc002jzg.2 + 9 1072 c.964A>G c.(964-966)AAA>GAA p.K322E BAIAP2_uc002jyz.3_Missense_Mutation_p.K322E|BAIAP2_uc002jza.2_Missense_Mutation_p.K322E|BAIAP2_uc002jzc.2_Missense_Mutation_p.K322E|BAIAP2_uc002jzb.2_Missense_Mutation_p.K79E|BAIAP2_uc002jzd.2_Missense_Mutation_p.K322E|BAIAP2_uc002jzf.2_Missense_Mutation_p.K322E|BAIAP2_uc002jze.2_Missense_Mutation_p.K355E|BAIAP2_uc010wuh.1_Missense_Mutation_p.K244E|BAIAP2_uc002jzh.2_Missense_Mutation_p.K323E|BAIAP2_uc010wui.1_Missense_Mutation_p.K185E NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 322 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGCCCAGCCCAAATCCCTGTC 0.622 27 86 --- --- --- --- PASS DCXR 51181 broad.mit.edu 37 17 79994269 79994269 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:79994269C>G uc002kdg.2 - 6 519 c.504G>C c.(502-504)GGG>GGC p.G168G NM_016286 NP_057370 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 168 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity 0 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCTTGTGGGGCCCGAGCTCTA 0.552 13 55 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80897338 80897338 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:80897338C>G uc002kfz.2 + 37 3595 c.3465C>G c.(3463-3465)CTC>CTG p.L1155L TBCD_uc002kfy.1_Silent_p.L1193L|TBCD_uc002kgc.2_Silent_p.L274L|TBCD_uc002kgd.2_Silent_p.L147L NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 1155 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TGACTGTGCTCAGTGACACTG 0.632 3 16 --- --- --- --- PASS ZFP161 7541 broad.mit.edu 37 18 5291254 5291254 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:5291254G>T uc002kmq.2 - 4 1114 c.953C>A c.(952-954)GCC>GAC p.A318D ZFP161_uc002kmr.2_Missense_Mutation_p.A318D|ZFP161_uc010dkp.2_Missense_Mutation_p.A318D NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 318 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTCAGGTGGGCCTGTGTGGT 0.453 5 105 --- --- --- --- PASS GATA6 2627 broad.mit.edu 37 18 19780785 19780785 + Nonstop_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:19780785G>C uc002ktt.1 + 7 2052 c.1787G>C c.(1786-1788)TGA>TCA p.*596S GATA6_uc002ktu.1_Nonstop_Mutation_p.*596S NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 596 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCCCTGGCCTGAGCCCACGCC 0.682 7 26 --- --- --- --- PASS OSBPL1A 114876 broad.mit.edu 37 18 21913048 21913048 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:21913048G>A uc002kve.2 - 7 657 c.483C>T c.(481-483)CTC>CTT p.L161L NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 161 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TGGGCCTGTTGAGCTAACAAT 0.418 18 79 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22805569 22805569 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:22805569C>T uc002kvk.2 - 4 2560 c.2313G>A c.(2311-2313)GTG>GTA p.V771V ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.V771V|ZNF521_uc002kvl.2_Silent_p.V551V NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 771 C2H2-type 18. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGTTGTGTTTCACATGGAGCT 0.498 T PAX5 ALL 9 93 --- --- --- --- PASS SS18 6760 broad.mit.edu 37 18 23619391 23619391 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:23619391G>C uc002kvm.2 - 6 715 c.637C>G c.(637-639)CAG>GAG p.Q213E SS18_uc002kvn.2_Missense_Mutation_p.Q213E|SS18_uc010xbf.1_Missense_Mutation_p.Q131E|SS18_uc010xbg.1_Missense_Mutation_p.Q161E|SS18_uc010xbh.1_Missense_Mutation_p.Q161E|SS18_uc010xbi.1_Missense_Mutation_p.Q190E|SS18_uc010dlz.1_Missense_Mutation_p.Q161E NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 213 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TTGTATTGCTGAGAAGGAGGC 0.408 T SSX1| SSX2 synovial sarcoma 24 153 --- --- --- --- PASS KATNAL2 83473 broad.mit.edu 37 18 44627345 44627345 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:44627345C>T uc002lco.2 + 15 1564 c.1370C>T c.(1369-1371)TCA>TTA p.S457L KATNAL2_uc002lcp.3_Missense_Mutation_p.S384L NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 529 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 CAGAGATACTCAGACTGGCAA 0.488 OREG0024959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 54 --- --- --- --- PASS CCDC11 220136 broad.mit.edu 37 18 47787576 47787576 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:47787576C>G uc002lee.2 - 3 422 c.331G>C c.(331-333)GAG>CAG p.E111Q NM_145020 NP_659457 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 111 Potential. ovary(1)|pancreas(1)|skin(1) 3 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GTAAAATACTCATTTTCTTCT 0.284 4 91 --- --- --- --- PASS ME2 4200 broad.mit.edu 37 18 48450551 48450551 + Silent SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:48450551A>G uc002ley.2 + 11 1396 c.1140A>G c.(1138-1140)GCA>GCG p.A380A ME2_uc010dpd.2_Silent_p.A380A NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 380 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTGAAGATGCAGTGAATATAC 0.348 28 125 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56205344 56205344 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:56205344G>C uc002lhj.3 - 5 2289 c.2075C>G c.(2074-2076)TCA>TGA p.S692* ALPK2_uc002lhk.1_Nonsense_Mutation_p.S23* NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 692 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TCCTAAGTTTGAGAAGGAAAT 0.493 32 107 --- --- --- --- PASS ZNF516 9658 broad.mit.edu 37 18 74091239 74091239 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr18:74091239G>A uc010dqx.1 - 3 3066 c.2831C>T c.(2830-2832)TCG>TTG p.S944L ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 944 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCTATTGGCCGAGGGCTGCGC 0.682 9 39 --- --- --- --- PASS PRSSL1 400668 broad.mit.edu 37 19 694935 694935 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:694935C>G uc002lpl.1 - 2 146 c.115G>C c.(115-117)GAG>CAG p.E39Q PRSSL1_uc010xfs.1_Missense_Mutation_p.E38Q NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN protease, serine-like 1 precursor 39 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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) GGGGTCACCTCGTGGCCCCCG 0.706 6 0 --- --- --- --- PASS ELANE 1991 broad.mit.edu 37 19 855618 855618 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:855618C>G uc002lqb.2 + 4 459 c.421C>G c.(421-423)CAG>GAG p.Q141E NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 141 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GCTGCCGGCTCAGGGACGCCG 0.692 Kostmann_syndrome 19 39 --- --- --- --- PASS CNN2 1265 broad.mit.edu 37 19 1036486 1036486 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:1036486C>G uc002lqu.2 + 6 942 c.579C>G c.(577-579)CCC>CCG p.P193P CNN2_uc002lqt.1_Silent_p.P154P|CNN2_uc010drz.1_Silent_p.P45P|CNN2_uc002lqv.2_Silent_p.P154P|CNN2_uc010xgb.1_Silent_p.P182P|CNN2_uc010xgc.1_Silent_p.P214P NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 193 RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 4; BAA20887). actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTATGACCCCAAGAACCATA 0.627 14 101 --- --- --- --- PASS MIDN 90007 broad.mit.edu 37 19 1255491 1255491 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:1255491C>T uc002lrp.2 + 7 1442 c.927C>T c.(925-927)ATC>ATT p.I309I NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 309 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTGCAGATCCTGAACGACC 0.721 5 15 --- --- --- --- PASS SH2D3A 10045 broad.mit.edu 37 19 6754983 6754983 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:6754983G>T uc002mft.2 - 5 1034 c.840C>A c.(838-840)TTC>TTA p.F280L SH2D3A_uc010xjg.1_Missense_Mutation_p.F158L NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 280 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 CATGGGGGCAGAAAGAGATCT 0.612 89 325 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7141796 7141796 + Silent SNP C G G rs79490496 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:7141796C>G uc002mgd.1 - 13 2683 c.2574G>C c.(2572-2574)ACG>ACC p.T858T INSR_uc002mge.1_Silent_p.T846T NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 858 Fibronectin type-III 3.|Extracellular (Potential). T -> A (in NIDDM). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGATTTCATGCGTCACAGGGC 0.323 13 59 --- --- --- --- PASS HNRNPM 4670 broad.mit.edu 37 19 8530377 8530377 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:8530377G>T uc010dwe.2 + 6 688 c.608G>T c.(607-609)GGA>GTA p.G203V HNRNPM_uc010dwc.1_Missense_Mutation_p.G203V|HNRNPM_uc010xke.1_Missense_Mutation_p.G164V|HNRNPM_uc010dwd.2_Missense_Mutation_p.G164V|HNRNPM_uc002mka.2_Missense_Mutation_p.G83V NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 203 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 GGAAGACTTGGAAGCACAGTA 0.378 19 337 --- --- --- --- PASS ADAMTS10 81794 broad.mit.edu 37 19 8651080 8651080 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:8651080G>A uc002mkj.1 - 22 2860 c.2586C>T c.(2584-2586)GCC>GCT p.A862A ADAMTS10_uc002mki.1_Silent_p.A349A|ADAMTS10_uc002mkk.1_Silent_p.A494A NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 862 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 AGTAGTGGGGGGCGACCGCGG 0.692 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 75 --- --- --- --- PASS ZNF558 148156 broad.mit.edu 37 19 8922163 8922163 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:8922163G>C uc002mkn.1 - 6 1233 c.1003C>G c.(1003-1005)CTT>GTT p.L335V ZNF558_uc010xkh.1_Missense_Mutation_p.L264V|ZNF558_uc010dwg.1_Missense_Mutation_p.L335V NM_144693 NP_653294 Q96NG5 ZN558_HUMAN zinc finger protein 558 335 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 TGCACAGTAAGAGAAAAGCTA 0.433 27 440 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9002184 9002184 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9002184G>A uc002mkp.2 - 52 40524 c.40320C>T c.(40318-40320)TTC>TTT p.F13440F MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F257F|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13442 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTGATGGGTGAAACCTGCAT 0.507 4 69 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9009662 9009662 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9009662G>A uc002mkp.2 - 39 39268 c.39064C>T c.(39064-39066)CTG>TTG p.L13022L MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13024 Extracellular (Potential).|SEA 7. 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 CCATACTGCAGATTGGTGATG 0.537 31 378 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9048215 9048215 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9048215G>C uc002mkp.2 - 5 33620 c.33416C>G c.(33415-33417)TCA>TGA p.S11139* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11141 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGAACAGCTGAGCTGGCTTC 0.468 14 219 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9048822 9048822 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9048822G>C uc002mkp.2 - 5 33013 c.32809C>G c.(32809-32811)CTG>GTG p.L10937V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10939 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTAGTGACCAGAGAGGTCACC 0.498 32 445 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9064726 9064726 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9064726C>A uc002mkp.2 - 3 22924 c.22720G>T c.(22720-22722)GTC>TTC p.V7574F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7576 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCCTGGAGACCTCAGTAGTA 0.507 24 446 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072073 9072073 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9072073C>G uc002mkp.2 - 3 15577 c.15373G>C c.(15373-15375)GAG>CAG p.E5125Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5127 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACATTGGTCTCTTCTGTGTTT 0.438 42 480 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9085379 9085379 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9085379G>C uc002mkp.2 - 1 6640 c.6436C>G c.(6436-6438)CTT>GTT p.L2146V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2146 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCCATTGGAAGAGGGACTTCA 0.498 37 259 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9086274 9086274 + Silent SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9086274G>T uc002mkp.2 - 1 5745 c.5541C>A c.(5539-5541)CTC>CTA p.L1847L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1847 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCCCATGGCTGAGGTCAAGTG 0.502 33 201 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087316 9087316 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9087316G>C uc002mkp.2 - 1 4703 c.4499C>G c.(4498-4500)TCA>TGA p.S1500* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1500 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCTGACTTTGAAAGTTCATG 0.428 118 742 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087418 9087418 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9087418G>C uc002mkp.2 - 1 4601 c.4397C>G c.(4396-4398)ACA>AGA p.T1466R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1466 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATTTCCTCTGTCAAACTGGT 0.473 66 405 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087899 9087899 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9087899C>G uc002mkp.2 - 1 4120 c.3916G>C c.(3916-3918)GAG>CAG p.E1306Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1306 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGTCATCTCAGGTGAAGAC 0.498 31 388 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9087904 9087904 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9087904G>A uc002mkp.2 - 1 4115 c.3911C>T c.(3910-3912)TCA>TTA p.S1304L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1304 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATCTCAGGTGAAGACCCAGA 0.493 51 373 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9088081 9088081 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9088081G>C uc002mkp.2 - 1 3938 c.3734C>G c.(3733-3735)TCA>TGA p.S1245* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1245 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTGTTTGTTGATTCAGGGTA 0.507 133 802 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089023 9089023 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9089023G>C uc002mkp.2 - 1 2996 c.2792C>G c.(2791-2793)TCA>TGA p.S931* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 931 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAACCAGTTGAGTTTGTAAC 0.498 48 238 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089301 9089301 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9089301G>C uc002mkp.2 - 1 2718 c.2514C>G c.(2512-2514)CTC>CTG p.L838L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 838 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGGGAGGCTGAGAGTGCTAG 0.473 88 462 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089422 9089422 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9089422G>A uc002mkp.2 - 1 2597 c.2393C>T c.(2392-2394)TCA>TTA p.S798L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 798 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCTTCCCCTGATGGAGATGG 0.522 14 798 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9090194 9090194 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9090194G>C uc002mkp.2 - 1 1825 c.1621C>G c.(1621-1623)CCT>GCT p.P541A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 541 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCATGCTAGGACTTGTCTCC 0.532 24 249 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9091309 9091309 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9091309G>A uc002mkp.2 - 1 710 c.506C>T c.(505-507)TCA>TTA p.S169L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 169 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCAGTTGTTGAGGTCTCAGT 0.443 17 329 --- --- --- --- PASS OR7D2 162998 broad.mit.edu 37 19 9296535 9296535 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9296535C>G uc002mkz.1 + 1 266 c.78C>G c.(76-78)TTC>TTG p.F26L NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 26 Helical; Name=1; (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TACAGCCGTTCATATTTGGGC 0.493 7 220 --- --- --- --- PASS ZNF562 54811 broad.mit.edu 37 19 9763789 9763789 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9763789G>C uc010xks.1 - 6 1280 c.1117C>G c.(1117-1119)CAG>GAG p.Q373E ZNF562_uc002mly.2_Missense_Mutation_p.Q373E|ZNF562_uc002mlx.2_Missense_Mutation_p.Q301E|ZNF562_uc010xkt.1_Missense_Mutation_p.Q336E|ZNF562_uc010xku.1_Missense_Mutation_p.Q304E|ZNF562_uc010xkv.1_Missense_Mutation_p.Q372E|ZNF562_uc010xkw.1_Missense_Mutation_p.Q257E NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 373 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCTTACACTGATAGGGTTTC 0.423 25 671 --- --- --- --- PASS OLFM2 93145 broad.mit.edu 37 19 9965171 9965171 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:9965171C>T uc002mmp.2 - 6 1084 c.1056G>A c.(1054-1056)CCG>CCA p.P352P OLFM2_uc002mmo.2_Silent_p.P274P NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 352 Olfactomedin-like. extracellular region large_intestine(1)|skin(1) 2 CGAGGGTGTGCGGGTCCAGCC 0.642 6 284 --- --- --- --- PASS PPAN-P2RY11 692312 broad.mit.edu 37 19 10224736 10224736 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:10224736G>C uc002mna.2 + 13 1707 c.1707G>C c.(1705-1707)GTG>GTC p.V569V PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Silent_p.V149V NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CCTGGGCCGTGAGCGCTGCCG 0.682 16 95 --- --- --- --- PASS ICAM1 3383 broad.mit.edu 37 19 10395132 10395132 + Missense_Mutation SNP G A A rs143008699 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:10395132G>A uc002mnq.2 + 5 1298 c.979G>A c.(979-981)GAG>AAG p.E327K ICAM1_uc010xle.1_Missense_Mutation_p.E105K|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 327 Ig-like C2-type 4.|Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) AGAAGGGACCGAGGTGACAGT 0.642 23 333 --- --- --- --- PASS ICAM5 7087 broad.mit.edu 37 19 10403472 10403472 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:10403472C>G uc002mnu.3 + 5 1211 c.1146C>G c.(1144-1146)TTC>TTG p.F382L ICAM5_uc002mnv.3_Missense_Mutation_p.F257L NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 382 Extracellular (Potential).|Ig-like C2-type 4. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCAGCTTCTTCTGCGACGCCA 0.622 19 181 --- --- --- --- PASS ATG4D 84971 broad.mit.edu 37 19 10657529 10657529 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:10657529G>A uc002mov.2 + 4 628 c.508G>A c.(508-510)GAG>AAG p.E170K ATG4D_uc010xlg.1_Missense_Mutation_p.E193K|ATG4D_uc010xlh.1_Missense_Mutation_p.E107K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 170 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GACATGGGCCGAGGGCATGGG 0.647 13 198 --- --- --- --- PASS YIPF2 78992 broad.mit.edu 37 19 11034586 11034586 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:11034586C>G uc002mqb.2 - 7 698 c.574G>C c.(574-576)GAG>CAG p.E192Q YIPF2_uc002mqc.2_Missense_Mutation_p.E192Q NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 192 Cytoplasmic (Potential). integral to membrane|transport vesicle 0 CCCATGCGCTCCTGGACACCC 0.647 4 58 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11144055 11144055 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:11144055G>C uc002mqf.3 + 26 3920 c.3636G>C c.(3634-3636)GAG>GAC p.E1212D SMARCA4_uc010dxp.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1212D|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1212D|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1212D|SMARCA4_uc010dxt.1_Missense_Mutation_p.E432D|SMARCA4_uc002mqh.3_Missense_Mutation_p.E335D|SMARCA4_uc002mqi.1_Missense_Mutation_p.E415D NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1212 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCGTGGAGGAGAAGATCCTAG 0.632 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 6 412 --- --- --- --- PASS LDLR 3949 broad.mit.edu 37 19 11215973 11215973 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:11215973G>C uc002mqk.3 + 4 559 c.391G>C c.(391-393)GAC>CAC p.D131H LDLR_uc010xlk.1_Missense_Mutation_p.D131H|LDLR_uc010xll.1_Missense_Mutation_p.D90H|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 131 Extracellular (Potential).|LDL-receptor class A 3. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CTGTGACTCAGACCGGGACTG 0.642 103 723 --- --- --- --- PASS KANK2 25959 broad.mit.edu 37 19 11280562 11280562 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:11280562G>C uc010dxv.2 - 14 3051 c.2493C>G c.(2491-2493)ATC>ATG p.I831M KANK2_uc002mqm.2_Missense_Mutation_p.I839M|KANK2_uc002mqo.3_Missense_Mutation_p.I831M|KANK2_uc002mqp.1_Missense_Mutation_p.I640M NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 831 ANK 5. 0 CCGAGCACTTGATGTTCATGC 0.478 10 170 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11517430 11517430 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:11517430C>T uc002mrp.2 - 6 812 c.748G>A c.(748-750)GAG>AAG p.E250K RGL3_uc002mrn.2_Missense_Mutation_p.E14K|RGL3_uc002mrm.2_Missense_Mutation_p.E14K|RGL3_uc002mro.2_Missense_Mutation_p.E250K NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 250 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 TCGGCCACCTCGTCCACGCTG 0.602 4 57 --- --- --- --- PASS ZNF491 126069 broad.mit.edu 37 19 11917204 11917204 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:11917204T>C uc002mso.1 + 3 721 c.436T>C c.(436-438)TAC>CAC p.Y146H NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 146 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCTCAGTTTATACCTTACCCA 0.408 26 112 --- --- --- --- PASS LPHN1 22859 broad.mit.edu 37 19 14262404 14262404 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:14262404C>G uc010xnn.1 - 24 4002 c.3706G>C c.(3706-3708)GCC>CCC p.A1236P LPHN1_uc010xno.1_Missense_Mutation_p.A1231P|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 1236 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 ATGCCACAGGCTTCCCGGCCT 0.642 27 128 --- --- --- --- PASS AKAP8 10270 broad.mit.edu 37 19 15465941 15465941 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:15465941C>T uc002nav.2 - 14 1925 c.1864G>A c.(1864-1866)GAA>AAA p.E622K AKAP8_uc010dzy.2_Missense_Mutation_p.E171K NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 622 signal transduction nuclear matrix ovary(1)|breast(1) 2 AGCAGCTGTTCGGCTTGAGGA 0.657 12 67 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15575156 15575156 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:15575156G>T uc002nbe.2 - 2 100 c.14C>A c.(13-15)TCG>TAG p.S5* NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 5 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CCGGCTTGGCGACGGTGGGTC 0.602 4 7 --- --- --- --- PASS OR10H2 26538 broad.mit.edu 37 19 15839699 15839699 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:15839699C>A uc002nbm.2 + 1 866 c.846C>A c.(844-846)CTC>CTA p.L282L NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) ACGCAGTCCTCACGCCCTTCC 0.547 19 114 --- --- --- --- PASS CHERP 10523 broad.mit.edu 37 19 16641589 16641589 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:16641589C>A uc002nei.1 - 6 851 c.777G>T c.(775-777)AAG>AAT p.K259N MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 259 CID. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 CCCGGGCGATCTTCTGCTGCT 0.692 18 34 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16910739 16910739 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:16910739G>A uc002neu.3 + 17 3924 c.3502G>A c.(3502-3504)GAA>AAA p.E1168K NWD1_uc002net.3_Missense_Mutation_p.E1033K|NWD1_uc002nev.3_Missense_Mutation_p.E962K Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1168 WD 9. ATP binding skin(3)|ovary(2)|pancreas(2) 7 GGACATCCTGGAAGGCGTCGG 0.592 7 62 --- --- --- --- PASS MYO9B 4650 broad.mit.edu 37 19 17312971 17312971 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:17312971G>C uc010eak.2 + 28 4847 c.4695G>C c.(4693-4695)CTG>CTC p.L1565L MYO9B_uc002nfi.2_Silent_p.L1565L|MYO9B_uc002nfj.1_Silent_p.L1565L|MYO9B_uc002nfl.1_Silent_p.L114L NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1565 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 ACAAGGATCTGATGGAGAACT 0.577 8 36 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17743637 17743637 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:17743637C>T uc002nhd.2 - 28 3646 c.3646G>A c.(3646-3648)GTG>ATG p.V1216M NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1128 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 AGTTCCGTCACATACTCATTG 0.552 50 115 --- --- --- --- PASS RAB3A 5864 broad.mit.edu 37 19 18313413 18313413 + Silent SNP C A A rs144222621 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:18313413C>A uc002nie.2 - 2 307 c.138G>T c.(136-138)TCG>TCT p.S46S NM_002866 NP_002857 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 46 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity 0 CAGGCGTGAACGAGTCGTCAG 0.542 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 198 --- --- --- --- PASS LSM4 25804 broad.mit.edu 37 19 18423448 18423448 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:18423448T>C uc002niq.2 - 3 281 c.110A>G c.(109-111)AAC>AGC p.N37S NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN U6 snRNA-associated Sm-like protein 4 37 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding 0 CAGGTTAATGTTCATCCAGTT 0.582 57 120 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19655002 19655002 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:19655002G>C uc002nmv.3 + 8 1733 c.1648G>C c.(1648-1650)GAG>CAG p.E550Q CILP2_uc002nmw.3_Missense_Mutation_p.E556Q NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 550 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CGTGTACCACGAGGTCAAGGC 0.617 20 156 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19655137 19655137 + Missense_Mutation SNP G C C rs147931006 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:19655137G>C uc002nmv.3 + 8 1868 c.1783G>C c.(1783-1785)GAC>CAC p.D595H CILP2_uc002nmw.3_Missense_Mutation_p.D601H NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 595 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CCGCAGAGCCGACGGCAAACC 0.672 22 153 --- --- --- --- PASS ZNF429 353088 broad.mit.edu 37 19 21719720 21719720 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:21719720G>C uc002nqd.1 + 4 1002 c.865G>C c.(865-867)GAA>CAA p.E289Q ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 289 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAAATGTGATGAATGTGGCAA 0.378 11 92 --- --- --- --- PASS ZNF100 163227 broad.mit.edu 37 19 21910188 21910188 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:21910188C>G uc002nqi.2 - 5 1125 c.926G>C c.(925-927)AGA>ACA p.R309T ZNF100_uc002nqh.2_Missense_Mutation_p.R245T NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 309 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTATGAATTCTTTTATGTGT 0.388 55 118 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154213 22154213 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:22154213C>A uc002nqp.2 - 6 3388 c.3239G>T c.(3238-3240)TGG>TTG p.W1080L ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGTTGAGGGCCACTTATAGGC 0.393 17 78 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22157406 22157406 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:22157406C>T uc002nqp.2 - 4 579 c.430G>A c.(430-432)GTA>ATA p.V144I ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CGTTGAAATACTTTGCTCTGT 0.318 29 175 --- --- --- --- PASS ZNF492 57615 broad.mit.edu 37 19 22846700 22846700 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:22846700G>A uc002nqw.3 + 4 473 c.229G>A c.(229-231)GAA>AAA p.E77K NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATGTGGATGTGAAAATTTACA 0.348 8 25 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23836981 23836981 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:23836981G>A uc002nri.2 - 4 936 c.754C>T c.(754-756)CGA>TGA p.R252* NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 252 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GGTTTCTCTCGAGCATAATCT 0.333 6 141 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768443 31768443 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:31768443C>G uc002nsy.3 - 2 2321 c.2256G>C c.(2254-2256)AAG>AAC p.K752N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 752 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGTTGCTCATCTTGAAAAGCA 0.602 4 135 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31770267 31770267 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:31770267C>T uc002nsy.3 - 2 497 c.432G>A c.(430-432)GAG>GAA p.E144E NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 144 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) cgttgTTCTTCTCCGAGGAGG 0.438 9 19 --- --- --- --- PASS ZNF507 22847 broad.mit.edu 37 19 32844814 32844814 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:32844814G>C uc002nte.2 + 3 1350 c.1078G>C c.(1078-1080)GAA>CAA p.E360Q ZNF507_uc002ntc.2_Missense_Mutation_p.E360Q|ZNF507_uc010xrn.1_Missense_Mutation_p.E360Q|ZNF507_uc002ntd.2_Missense_Mutation_p.E360Q NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) CAATGAGGAAGAAATGCTAGA 0.438 28 175 --- --- --- --- PASS ANKRD27 84079 broad.mit.edu 37 19 33117720 33117720 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:33117720G>C uc002ntn.1 - 16 1590 c.1434C>G c.(1432-1434)CTC>CTG p.L478L NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 478 ANK 2. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) GGAGGTCGATGAGGGATGCCT 0.572 8 31 --- --- --- --- PASS ZNF181 339318 broad.mit.edu 37 19 35232200 35232200 + Missense_Mutation SNP T G G rs143797666 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:35232200T>G uc002nvu.3 + 4 1377 c.914T>G c.(913-915)GTC>GGC p.V305G ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 305 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTTAGCCATGTCTCATCACTT 0.413 5 260 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36054161 36054161 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:36054161G>C uc002oal.1 - 3 195 c.166C>G c.(166-168)CAG>GAG p.Q56E NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 56 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ACTGACAGCTGGTGGTCGTTC 0.592 11 305 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36227820 36227820 + Nonsense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:36227820G>A uc010eei.2 + 33 7305 c.7305G>A c.(7303-7305)TGG>TGA p.W2435* NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 2435 FYR C-terminal. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGGGGCGTGGAGAACTCTGA 0.607 10 74 --- --- --- --- PASS APLP1 333 broad.mit.edu 37 19 36370332 36370332 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:36370332G>C uc002oce.2 + 17 2080 c.1942G>C c.(1942-1944)GAA>CAA p.E648Q APLP1_uc010xsz.1_Missense_Mutation_p.E609Q|APLP1_uc002ocf.2_Missense_Mutation_p.E649Q|APLP1_uc002ocg.2_Missense_Mutation_p.E552Q|APLP1_uc010xta.1_Missense_Mutation_p.E642Q NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 648 Cytoplasmic (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTTCCTGGAGGAACGACCCTG 0.662 5 136 --- --- --- --- PASS ZNF829 374899 broad.mit.edu 37 19 37383109 37383109 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:37383109C>G uc002ofa.1 - 6 946 c.584G>C c.(583-585)CGT>CCT p.R195P ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 195 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGTGAGCCACGACTAAAGGA 0.368 56 89 --- --- --- --- PASS ZNF573 126231 broad.mit.edu 37 19 38229665 38229665 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:38229665G>C uc002ohe.2 - 4 1748 c.1726C>G c.(1726-1728)CAT>GAT p.H576D ZNF573_uc010efs.2_Missense_Mutation_p.H489D|ZNF573_uc002ohd.2_Missense_Mutation_p.H574D|ZNF573_uc002ohf.2_Missense_Mutation_p.H518D|ZNF573_uc002ohg.2_Missense_Mutation_p.H488D NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 556 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TTATCAGCATGAATGCTCTGA 0.373 30 212 --- --- --- --- PASS CATSPERG 57828 broad.mit.edu 37 19 38853195 38853195 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:38853195C>G uc002oih.3 + 19 2424 c.2337C>G c.(2335-2337)TTC>TTG p.F779L CATSPERG_uc002oig.3_Missense_Mutation_p.F739L|CATSPERG_uc002oif.3_Missense_Mutation_p.F419L|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 779 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 GCCACTCGTTCCGGACGCAGT 0.657 14 91 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38934255 38934255 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:38934255C>A uc002oit.2 + 4 458 c.328C>A c.(328-330)CAT>AAT p.H110N RYR1_uc002oiu.2_Missense_Mutation_p.H110N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 110 Cytoplasmic.|MIR 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGCTCCGGCATGCACACAG 0.647 8 58 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38991553 38991553 + Nonsense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:38991553G>T uc002oit.2 + 47 7667 c.7537G>T c.(7537-7539)GAG>TAG p.E2513* RYR1_uc002oiu.2_Nonsense_Mutation_p.E2513*|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2513 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTATGGCATCGAGAACCAGGA 0.632 14 77 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40362766 40362766 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:40362766G>C uc002omp.3 - 32 15312 c.15304C>G c.(15304-15306)CAG>GAG p.Q5102E NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5102 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCAGCTGCCTGACAGGCCGCC 0.637 7 76 --- --- --- --- PASS ZNF780A 284323 broad.mit.edu 37 19 40580841 40580841 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:40580841C>G uc002omy.2 - 6 1733 c.1508G>C c.(1507-1509)TGT>TCT p.C503S ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C503S|ZNF780A_uc010xvh.1_Missense_Mutation_p.C504S NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 503 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACACTCCTTACATTCATAGGG 0.428 9 264 --- --- --- --- PASS PRX 57716 broad.mit.edu 37 19 40902216 40902216 + Silent SNP G C C rs56743160 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:40902216G>C uc002onr.2 - 7 2312 c.2043C>G c.(2041-2043)CCC>CCG p.P681P PRX_uc002onq.2_Silent_p.P542P|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 681 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGCACCTCGGGGAGTCGAA 0.582 8 362 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41063159 41063159 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:41063159C>G uc002ony.2 + 26 5606 c.5520C>G c.(5518-5520)TTC>TTG p.F1840L SPTBN4_uc002onx.2_Missense_Mutation_p.F1840L|SPTBN4_uc002onz.2_Missense_Mutation_p.F1840L|SPTBN4_uc010egx.2_Missense_Mutation_p.F583L|SPTBN4_uc002ooa.2_Missense_Mutation_p.F516L NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1840 Spectrin 16. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATAAGTTCTTCAGTGACGCCC 0.652 18 51 --- --- --- --- PASS RAB4B 53916 broad.mit.edu 37 19 41285940 41285940 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:41285940C>G uc002opd.1 + 2 143 c.33C>G c.(31-33)TTC>TTG p.F11L MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_RNA|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.F37L NM_016154 NP_057238 P61018 RAB4B_HUMAN ras-related GTP-binding protein 4b 11 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport intracellular|plasma membrane GTP binding|GTPase activity skin(1) 1 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCTTCAAATTCCTGGTGATTG 0.468 9 183 --- --- --- --- PASS CYP2S1 29785 broad.mit.edu 37 19 41707208 41707208 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:41707208G>T uc002opw.2 + 6 962 c.907G>T c.(907-909)GGG>TGG p.G303W CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.G28W NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 303 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 GCTGTTTGCTGGGACGATGAC 0.507 43 236 --- --- --- --- PASS CEACAM5 1048 broad.mit.edu 37 19 42213743 42213743 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:42213743G>C uc002ork.2 + 2 330 c.209G>C c.(208-210)GGT>GCT p.G70A CEACAM5_uc010ehz.1_Missense_Mutation_p.G70A|CEACAM5_uc002orj.1_Missense_Mutation_p.G70A|CEACAM5_uc002orl.2_Missense_Mutation_p.G70A NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 70 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGGTACAAAGGTGAAAGAGTG 0.483 33 128 --- --- --- --- PASS LIPE 3991 broad.mit.edu 37 19 42910326 42910326 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:42910326G>C uc002otr.2 - 7 2629 c.2352C>G c.(2350-2352)GTC>GTG p.V784V uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 784 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) CATAGGCGCTGACACACTTGG 0.488 13 79 --- --- --- --- PASS APOC2 344 broad.mit.edu 37 19 45452058 45452058 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:45452058G>C uc002pah.2 + 3 259 c.156G>C c.(154-156)AAG>AAC p.K52N NM_000483 NP_000474 P02655 APOC2_HUMAN apolipoprotein C-II precursor 52 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle clearance|lipid catabolic process|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of lipid metabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of phospholipase activity|positive regulation of phospholipid catabolic process|positive regulation of triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling chylomicron|intermediate-density lipoprotein particle|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle lipase inhibitor activity|lipid binding|lipoprotein lipase activator activity|phospholipase activator activity|phospholipase binding|protein homodimerization activity kidney(1) 1 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) AGTCAGCAAAGACAGCCGCCC 0.572 87 81 --- --- --- --- PASS MARK4 57787 broad.mit.edu 37 19 45803085 45803085 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:45803085G>C uc002pbb.1 + 16 1899 c.1894G>C c.(1894-1896)GAG>CAG p.E632Q MARK4_uc002pba.1_Silent_p.L658L Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 632 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGACGAACCTGAGAGAATCGG 0.622 11 39 --- --- --- --- PASS NPAS1 4861 broad.mit.edu 37 19 47548655 47548655 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:47548655C>T uc002pfw.2 + 12 1715 c.1519C>T c.(1519-1521)CCG>TCG p.P507S NPAS1_uc002pfx.2_Missense_Mutation_p.P332S|NPAS1_uc002pfy.2_Missense_Mutation_p.P507S|NPAS1_uc010xyj.1_3'UTR NM_002517 NP_002508 Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 507 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) GAAGCAGGATCCGGTGCGGCC 0.741 30 18 --- --- --- --- PASS CA11 770 broad.mit.edu 37 19 49142645 49142645 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:49142645G>C uc002pjz.1 - 7 1274 c.712C>G c.(712-714)CAG>GAG p.Q238E SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 238 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) AGAGAGCCCTGATAGGTGATG 0.562 3 72 --- --- --- --- PASS CA11 770 broad.mit.edu 37 19 49143373 49143373 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:49143373G>C uc002pjz.1 - 4 1012 c.450C>G c.(448-450)AAC>AAG p.N150K SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 150 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) AGCCCTGGTGGTTGATCTGAT 0.587 10 87 --- --- --- --- PASS CGB7 94027 broad.mit.edu 37 19 49557573 49557573 + Nonsense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:49557573G>C uc002pmd.2 - 3 838 c.473C>G c.(472-474)TCA>TGA p.S158* CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Nonsense_Mutation_p.S158* NM_033142 NP_149133 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 7 158 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) CGGGGTGTCTGAGGGCCCCGG 0.627 3 125 --- --- --- --- PASS TRPM4 54795 broad.mit.edu 37 19 49675295 49675295 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:49675295C>T uc002pmw.2 + 9 1152 c.1080C>T c.(1078-1080)CTC>CTT p.L360L TRPM4_uc010emu.2_Silent_p.L360L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.L186L|TRPM4_uc010emv.2_Silent_p.L245L|TRPM4_uc010yal.1_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 360 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGAAGGAGCTCCTGACAGTCT 0.537 17 71 --- --- --- --- PASS TRPM4 54795 broad.mit.edu 37 19 49675296 49675296 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:49675296C>T uc002pmw.2 + 9 1153 c.1081C>T c.(1081-1083)CTG>TTG p.L361L TRPM4_uc010emu.2_Silent_p.L361L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.L187L|TRPM4_uc010emv.2_Silent_p.L246L|TRPM4_uc010yal.1_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 361 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GAAGGAGCTCCTGACAGTCTA 0.537 18 72 --- --- --- --- PASS TBC1D17 79735 broad.mit.edu 37 19 50387614 50387614 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:50387614C>T uc002pqo.2 + 11 1383 c.1231C>T c.(1231-1233)CAC>TAC p.H411Y TBC1D17_uc010ybg.1_Missense_Mutation_p.H378Y|TBC1D17_uc002pqp.2_Missense_Mutation_p.H62Y|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.H62Y|TBC1D17_uc002pqs.2_RNA NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 411 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CTGCATGTATCACTTCGACCT 0.662 7 344 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51955867 51955867 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:51955867C>A uc002pwt.2 - 7 1333 c.1266G>T c.(1264-1266)TGG>TGT p.W422C SIGLEC8_uc010yda.1_Missense_Mutation_p.W313C|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.W329C NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 422 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGCCATCTTTCCAGGATTCAG 0.587 12 54 --- --- --- --- PASS ZNF615 284370 broad.mit.edu 37 19 52496580 52496580 + Silent SNP G A A rs147050024 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:52496580G>A uc002pye.1 - 6 2041 c.1749C>T c.(1747-1749)CTC>CTT p.L583L ZNF615_uc002pyf.1_Silent_p.L594L|ZNF615_uc002pyg.1_Silent_p.L475L|ZNF615_uc002pyh.1_Silent_p.L594L|ZNF615_uc010epi.1_Silent_p.L590L|ZNF615_uc010ydg.1_Silent_p.L588L NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 583 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GATGTGCAATGAGCATGCTTT 0.438 5 273 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52725424 52725424 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:52725424G>C uc002pyp.2 + 13 1750 c.1591G>C c.(1591-1593)GAC>CAC p.D531H PPP2R1A_uc010ydk.1_Missense_Mutation_p.D476H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.D352H NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 531 PP2A subunit C binding.|HEAT 14. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CATGGCTGGGGACCCGGTTGC 0.607 Mis clear cell ovarian carcinoma 5 37 --- --- --- --- PASS ZNF665 79788 broad.mit.edu 37 19 53667918 53667918 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:53667918G>T uc010eqm.1 - 4 1925 c.1825C>A c.(1825-1827)CAA>AAA p.Q609K NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 544 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TGTGAATTTTGAGTGAAGACC 0.398 36 141 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55147045 55147045 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:55147045G>A uc002qgj.2 + 14 1975 c.1635G>A c.(1633-1635)GTG>GTA p.V545V LILRB1_uc010erp.1_Silent_p.V160V|LILRB1_uc002qgl.2_Silent_p.V545V|LILRB1_uc002qgk.2_Silent_p.V546V|LILRB1_uc002qgm.2_Silent_p.V546V|LILRB1_uc010erq.2_Silent_p.V529V|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 545 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) AGGATGGGGTGGAGATGGACA 0.612 HNSCC(37;0.09) 35 122 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55396759 55396759 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:55396759G>A uc002qhr.1 + 3 380 c.183G>A c.(181-183)ATG>ATA p.M61I FCAR_uc002qhq.2_Missense_Mutation_p.M61I|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.M34I|FCAR_uc010esi.1_Missense_Mutation_p.M34I|FCAR_uc002qhu.1_Missense_Mutation_p.M61I|FCAR_uc002qhv.1_Missense_Mutation_p.M61I|FCAR_uc002qhw.1_Missense_Mutation_p.M49I|FCAR_uc002qhx.1_Missense_Mutation_p.M49I|FCAR_uc002qhy.1_Missense_Mutation_p.M49I|FCAR_uc002qhz.1_Missense_Mutation_p.M49I|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 61 Extracellular (Potential).|Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CCCAGCTGATGATCATAAAAA 0.468 12 71 --- --- --- --- PASS TNNI3 7137 broad.mit.edu 37 19 55666173 55666173 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:55666173C>A uc002qjg.3 - 6 308 c.308G>T c.(307-309)CGT>CTT p.R103L TNNI3_uc010yft.1_Missense_Mutation_p.R95L NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 103 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CTTGTCCACACGGGCGTGGAG 0.478 9 33 --- --- --- --- PASS C19orf51 352909 broad.mit.edu 37 19 55671358 55671358 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:55671358T>C uc002qji.1 - 10 1106 c.1072A>G c.(1072-1074)ACC>GCC p.T358A TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.T173A|C19orf51_uc002qjj.1_Missense_Mutation_p.T405A|C19orf51_uc002qjk.1_Missense_Mutation_p.T304A|C19orf51_uc002qjl.1_Missense_Mutation_p.T425A Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 358 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AAGTGGACGGTGAAAGATTCC 0.597 5 53 --- --- --- --- PASS C19orf51 352909 broad.mit.edu 37 19 55671359 55671359 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:55671359G>T uc002qji.1 - 10 1105 c.1071C>A c.(1069-1071)TTC>TTA p.F357L TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.F172L|C19orf51_uc002qjj.1_Missense_Mutation_p.F404L|C19orf51_uc002qjk.1_Missense_Mutation_p.F303L|C19orf51_uc002qjl.1_Missense_Mutation_p.F424L Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 357 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGTGGACGGTGAAAGATTCCG 0.597 5 54 --- --- --- --- PASS ZNF71 58491 broad.mit.edu 37 19 57133271 57133271 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:57133271C>T uc002qnm.3 + 3 854 c.616C>T c.(616-618)CGC>TGC p.R206C NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 206 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) TGTGCACCAGCGCACGCACAC 0.652 11 37 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57325348 57325348 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:57325348C>T uc002qnu.2 - 7 4813 c.4462G>A c.(4462-4464)GAA>AAA p.E1488K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1459K|PEG3_uc002qnv.2_Missense_Mutation_p.E1488K|PEG3_uc002qnw.2_Missense_Mutation_p.E1364K|PEG3_uc002qnx.2_Missense_Mutation_p.E1362K|PEG3_uc010etr.2_Missense_Mutation_p.E1488K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1488 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTGGGTCTTCAATTCCCACA 0.493 13 239 --- --- --- --- PASS ZIK1 284307 broad.mit.edu 37 19 58101644 58101644 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:58101644G>A uc002qpg.2 + 4 562 c.465G>A c.(463-465)GTG>GTA p.V155V ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.V100V|ZIK1_uc002qpi.2_Silent_p.V142V|ZIK1_uc002qpj.2_Silent_p.V52V NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCTCATATGTGAAGTGCTGCC 0.483 18 79 --- --- --- --- PASS ZNF776 284309 broad.mit.edu 37 19 58265642 58265642 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr19:58265642G>A uc002qpx.2 + 3 1367 c.1144G>A c.(1144-1146)GGG>AGG p.G382R ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.G382R NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 382 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TACGGCATGTGGGAAGTTATT 0.433 34 117 --- --- --- --- PASS SIRPA 140885 broad.mit.edu 37 20 1903162 1903162 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:1903162G>C uc002wfq.2 + 5 1318 c.958G>C c.(958-960)GTA>CTA p.V320L SIRPA_uc010zps.1_Missense_Mutation_p.V300L|SIRPA_uc002wfr.2_Missense_Mutation_p.V320L|SIRPA_uc002wfs.2_Missense_Mutation_p.V320L|SIRPA_uc002wft.2_Missense_Mutation_p.V320L NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 320 Ig-like C1-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CCTGGTGAATGTATCTGCCCA 0.562 11 79 --- --- --- --- PASS HAO1 54363 broad.mit.edu 37 20 7886891 7886891 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:7886891T>C uc002wmw.1 - 4 655 c.631A>G c.(631-633)AAA>GAA p.K211E HAO1_uc010gbu.2_Missense_Mutation_p.K211E NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 211 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 TCTATTGCTTTAGCCACATAT 0.378 38 196 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16362393 16362393 + Splice_Site SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:16362393C>G uc002wpg.1 - 18 1943 c.1785_splice c.e18-1 p.G595_splice KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc010gch.1_Splice_Site_p.G595_splice|KIF16B_uc010gci.1_Splice_Site_p.G595_splice|KIF16B_uc010gcj.1_Splice_Site_p.R606_splice NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 AAATTCAAGTCTAATAAAATC 0.348 6 48 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20269276 20269276 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:20269276G>C uc002wru.2 + 23 2896 c.2820G>C c.(2818-2820)AAG>AAC p.K940N C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 940 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TCTGTGAGAAGAATGTGGATT 0.398 9 347 --- --- --- --- PASS ACSS1 84532 broad.mit.edu 37 20 25011462 25011462 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:25011462G>A uc002wub.2 - 3 1442 c.564C>T c.(562-564)ATC>ATT p.I188I ACSS1_uc002wuc.2_Silent_p.I188I|ACSS1_uc010gdc.2_Silent_p.I188I|ACSS1_uc002wua.2_Silent_p.I105I NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 188 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGACAGCTCCGATCCTGGCAC 0.597 12 29 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31695567 31695567 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:31695567G>A uc010zue.1 + 15 1777 c.1762G>A c.(1762-1764)GTC>ATC p.V588I NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 588 cytoplasm|extracellular region lipid binding 0 GGGTTCTGGCGTCCCTCTCCC 0.488 61 73 --- --- --- --- PASS E2F1 1869 broad.mit.edu 37 20 32266052 32266052 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:32266052C>A uc002wzu.3 - 4 820 c.680G>T c.(679-681)TGT>TTT p.C227F NM_005225 NP_005216 Q01094 E2F1_HUMAN E2F transcription factor 1 227 Dimerization (Potential).|Required for interaction with TRIM28. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding 0 CTGCGTAGTACAGATATTCAT 0.627 25 40 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33345597 33345597 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:33345597C>G uc002xav.2 - 8 3525 c.954G>C c.(952-954)TGG>TGC p.W318C NCOA6_uc002xaw.2_Missense_Mutation_p.W318C|NCOA6_uc010gew.1_Missense_Mutation_p.W275C NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 318 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GCAGCTGGTTCCAGCCTGGAG 0.592 14 119 --- --- --- --- PASS MMP24 10893 broad.mit.edu 37 20 33839711 33839711 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:33839711G>C uc002xbu.2 + 3 402 c.399G>C c.(397-399)TGG>TGC p.W133C EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 133 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGCCCAGGTGGATGAAGAAAC 0.542 24 129 --- --- --- --- PASS RBM12 10137 broad.mit.edu 37 20 34240637 34240637 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:34240637C>G uc002xdq.2 - 3 2840 c.2608G>C c.(2608-2610)GAT>CAT p.D870H CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.D870H|RBM12_uc002xds.2_Missense_Mutation_p.D870H NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 870 RRM 3. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) AAAATCTCATCAATAGACACA 0.408 25 154 --- --- --- --- PASS RBM39 9584 broad.mit.edu 37 20 34302155 34302155 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:34302155C>G uc002xeb.2 - 11 1392 c.1048G>C c.(1048-1050)GAT>CAT p.D350H RBM39_uc002xdz.2_Missense_Mutation_p.D326H|RBM39_uc002xea.2_Missense_Mutation_p.D193H|RBM39_uc010gfn.2_Missense_Mutation_p.D193H|RBM39_uc010zvm.1_Missense_Mutation_p.D328H|RBM39_uc002xeg.2_Missense_Mutation_p.D328H|RBM39_uc002xec.2_Missense_Mutation_p.D350H|RBM39_uc002xed.2_Missense_Mutation_p.D68H|RBM39_uc002xee.2_Missense_Mutation_p.D193H|RBM39_uc002xef.2_Missense_Mutation_p.D193H|RBM39_uc010zvn.1_Missense_Mutation_p.D193H NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 350 Activating domain (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) GTTCCCAAATCAATTCCAGTC 0.413 22 197 --- --- --- --- PASS RBL1 5933 broad.mit.edu 37 20 35661184 35661184 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:35661184G>T uc002xgi.2 - 16 2345 c.2266C>A c.(2266-2268)CAT>AAT p.H756N RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.H756N NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 756 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) ATTAATGAATGAGCAGTAAGT 0.423 71 439 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40944533 40944533 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:40944533T>A uc002xkg.2 - 12 2153 c.1969A>T c.(1969-1971)AGC>TGC p.S657C PTPRT_uc010ggj.2_Missense_Mutation_p.S657C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 657 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAATCGAGGCTGGAGGCATTC 0.507 32 169 --- --- --- --- PASS PABPC1L 80336 broad.mit.edu 37 20 43566779 43566779 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:43566779G>C uc010ggv.1 + 13 1805 c.1723G>C c.(1723-1725)GAC>CAC p.D575H PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D129H|PABPC1L_uc002xmx.2_Missense_Mutation_p.D129H NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 575 PABC. nucleotide binding|RNA binding ovary(1) 1 GCTGGAGATTGACAACTCAGA 0.587 20 48 --- --- --- --- PASS NEURL2 140825 broad.mit.edu 37 20 44517426 44517426 + Nonsense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:44517426C>A uc002xqg.1 - 2 1100 c.829G>T c.(829-831)GAA>TAA p.E277* C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 277 SOCS box. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) TCCTTAAGTTCTTTGGGCAGG 0.567 8 100 --- --- --- --- PASS MMP9 4318 broad.mit.edu 37 20 44640944 44640944 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:44640944C>T uc002xqz.2 + 7 1185 c.1166C>T c.(1165-1167)CCG>CTG p.P389L NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 389 Fibronectin type-II 3. 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) GGCTTCTGCCCGGACCAAGGT 0.697 10 121 --- --- --- --- PASS ZNF334 55713 broad.mit.edu 37 20 45131354 45131354 + Silent SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:45131354C>A uc002xsc.2 - 5 808 c.624G>T c.(622-624)CCG>CCT p.P208P ZNF334_uc002xsa.2_Silent_p.P231P|ZNF334_uc002xsb.2_Silent_p.P170P|ZNF334_uc002xsd.2_Silent_p.P170P|ZNF334_uc010ghl.2_Silent_p.P207P NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) TATAGTCAAACGGTTGTTTCA 0.348 33 258 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46365469 46365469 + Silent SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:46365469G>C uc002xto.2 - 3 723 c.393C>G c.(391-393)CTC>CTG p.L131L SULF2_uc002xtr.2_Silent_p.L131L|SULF2_uc002xtq.2_Silent_p.L131L|SULF2_uc010ghv.1_Silent_p.L131L NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 131 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CAGTGCTATTGAGGTACACGG 0.542 7 60 --- --- --- --- PASS ARFGEF2 10564 broad.mit.edu 37 20 47626853 47626853 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:47626853G>C uc002xtx.3 + 27 3821 c.3669G>C c.(3667-3669)AAG>AAC p.K1223N ARFGEF2_uc010zyf.1_Missense_Mutation_p.K516N NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1223 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CAGGTTGGAAGAACATCTTTG 0.562 5 179 --- --- --- --- PASS ADNP 23394 broad.mit.edu 37 20 49509542 49509542 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:49509542T>C uc002xvt.1 - 5 2054 c.1709A>G c.(1708-1710)AAT>AGT p.N570S ADNP_uc002xvu.1_Missense_Mutation_p.N570S NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 570 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ATCCCTCAGATTGTATGTAGT 0.443 10 355 --- --- --- --- PASS NFATC2 4773 broad.mit.edu 37 20 50048903 50048903 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:50048903G>A uc002xwd.2 - 9 2643 c.2423C>T c.(2422-2424)TCG>TTG p.S808L NFATC2_uc002xwc.2_Missense_Mutation_p.S808L|NFATC2_uc010zyv.1_Missense_Mutation_p.S589L|NFATC2_uc010zyw.1_Missense_Mutation_p.S589L|NFATC2_uc010zyx.1_Missense_Mutation_p.S788L|NFATC2_uc010zyy.1_Missense_Mutation_p.S589L|NFATC2_uc010zyz.1_Missense_Mutation_p.S589L|NFATC2_uc002xwe.2_Missense_Mutation_p.S788L NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 808 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GATCACAGGCGAGGCCTGCTG 0.647 41 108 --- --- --- --- PASS CYP24A1 1591 broad.mit.edu 37 20 52774666 52774666 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:52774666C>T uc002xwv.2 - 9 1593 c.1195G>A c.(1195-1197)GAC>AAC p.D399N CYP24A1_uc002xwu.1_Missense_Mutation_p.D257N|CYP24A1_uc002xww.2_Missense_Mutation_p.D399N NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 399 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GTTGCCTTGTCAAGAGTCCGA 0.378 17 154 --- --- --- --- PASS NPEPL1 79716 broad.mit.edu 37 20 57269496 57269496 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:57269496G>A uc010zzs.1 + 3 450 c.355G>A c.(355-357)GAG>AAG p.E119K NPEPL1_uc010zzr.1_Missense_Mutation_p.E71K|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.E91K|NPEPL1_uc002xzp.2_Missense_Mutation_p.E7K NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 119 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CGAGCAGCCGGAGGTCTTTGC 0.667 5 152 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60509210 60509210 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:60509210G>A uc002ybn.1 + 15 2490 c.2476G>A c.(2476-2478)GCT>ACT p.A826T CDH4_uc002ybp.1_Missense_Mutation_p.A752T NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 826 Cytoplasmic (Potential). A -> P (in Ref. 1; AAA35627 and 4; no nucleotide entry). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCCGGTGGGCGCTGAGCCCCA 0.687 13 49 --- --- --- --- PASS C20orf200 253868 broad.mit.edu 37 20 61143691 61143691 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:61143691G>A uc002ycz.1 - 3 648 c.157C>T c.(157-159)CTG>TTG p.L53L C20orf200_uc002ycy.2_RNA NM_152757 NP_689970 hypothetical protein LOC253868 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) CCCCTCCGCAGACCGGATGGT 0.677 56 70 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61512756 61512756 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr20:61512756C>T uc002ydr.1 - 16 4816 c.4552G>A c.(4552-4554)GAC>AAC p.D1518N DIDO1_uc002yds.1_Missense_Mutation_p.D1518N NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1518 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) ATCAAGGCGTCCGACACCGAG 0.622 29 233 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19647652 19647652 + Silent SNP A C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:19647652A>C uc002ykw.2 - 24 2797 c.2766T>G c.(2764-2766)GGT>GGG p.G922G NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 922 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTGCAGTAGTACCTGCTCAAA 0.388 17 101 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28306991 28306991 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:28306991G>T uc002ymg.2 - 4 2212 c.1483C>A c.(1483-1485)CAG>AAG p.Q495K NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 495 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TTGCACTGCTGGGTGGCATCG 0.567 15 77 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33065631 33065631 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:33065631G>C uc002ypd.2 - 12 1915 c.1489C>G c.(1489-1491)CAA>GAA p.Q497E SFRS15_uc002ype.2_Missense_Mutation_p.Q497E|SFRS15_uc010glu.2_Missense_Mutation_p.Q482E|SFRS15_uc002ypf.1_Missense_Mutation_p.Q171E NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 497 nucleus nucleotide binding|RNA binding 0 GGTTTCACTTGAGGGAGGCCT 0.428 4 181 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33346872 33346872 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:33346872C>T uc002yph.2 + 7 1376 c.1016C>T c.(1015-1017)TCT>TTT p.S339F NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 339 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CGCAGGATTTCTCTGGAAGAT 0.552 33 192 --- --- --- --- PASS IFNAR1 3454 broad.mit.edu 37 21 34721847 34721847 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:34721847G>C uc002yrn.2 + 8 1288 c.1141G>C c.(1141-1143)GAG>CAG p.E381Q IFNAR1_uc011adv.1_Missense_Mutation_p.E312Q NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 381 Fibronectin type-III 3.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTCAAATGCTGAGGTAAAAAG 0.308 7 31 --- --- --- --- PASS KRTAP10-2 386679 broad.mit.edu 37 21 45971181 45971181 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:45971181G>A uc002zfi.1 - 1 208 c.161C>T c.(160-162)TCC>TTC p.S54F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 54 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1) 1 GCAGGGGCTGGACACACAGCT 0.701 16 49 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46021108 46021108 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:46021108G>C uc002zfn.3 + 2 597 c.572G>C c.(571-573)TGT>TCT p.C191S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 196 30 X 5 AA repeats of C-C-X(3). keratin filament 0 CAGGCGGTCTGTGAGCCCAGC 0.647 6 50 --- --- --- --- PASS UBE2G2 7327 broad.mit.edu 37 21 46191303 46191303 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr21:46191303G>C uc002zfy.2 - 6 562 c.487C>G c.(487-489)CTG>GTG p.L163V UBE2G2_uc002zfx.2_Missense_Mutation_p.L135V NM_003343 NP_003334 P60604 UB2G2_HUMAN ubiquitin-conjugating enzyme E2G 2 isoform 1 163 protein K48-linked ubiquitination cytosol ATP binding|protein binding|ubiquitin-protein ligase activity breast(3)|central_nervous_system(1) 4 Colorectal(79;0.0638) CACAGTCCCAGAGACTTCTGG 0.572 29 108 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18022049 18022049 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:18022049G>A uc010gqw.1 + 15 2277 c.2151G>A c.(2149-2151)GGG>GGA p.G717G CECR2_uc010gqv.1_Silent_p.G576G|CECR2_uc002zml.2_Silent_p.G576G NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 759 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CCCGGCATGGGGGGGCTCCAG 0.552 12 30 --- --- --- --- PASS ZNF280B 140883 broad.mit.edu 37 22 22842929 22842929 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:22842929C>G uc002zwc.1 - 4 1571 c.795G>C c.(793-795)TTG>TTC p.L265F LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGTTAGACTCAAAATGTCTG 0.373 31 96 --- --- --- --- PASS ZNF70 7621 broad.mit.edu 37 22 24086611 24086611 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:24086611G>A uc002zxs.2 - 2 1178 c.717C>T c.(715-717)CTC>CTT p.L239L ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 239 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 CGTGTTTTCTGAGGCTGGAGC 0.532 8 145 --- --- --- --- PASS CABIN1 23523 broad.mit.edu 37 22 24432570 24432570 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:24432570A>G uc002zzi.1 + 3 164 c.37A>G c.(37-39)ATT>GTT p.I13V CABIN1_uc002zzj.1_Missense_Mutation_p.I13V|CABIN1_uc002zzl.1_Missense_Mutation_p.I13V|CABIN1_uc010guk.1_Missense_Mutation_p.I13V|CABIN1_uc002zzk.1_Missense_Mutation_p.I13V NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 13 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CAGCTCCACCATTGAGGATGA 0.448 125 394 --- --- --- --- PASS CYTSA 23384 broad.mit.edu 37 22 24718054 24718054 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:24718054C>G uc002zzw.2 + 5 1413 c.1106C>G c.(1105-1107)TCA>TGA p.S369* CYTSA_uc002zzv.3_Nonsense_Mutation_p.S369*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.S369* NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 369 cell cycle|cell division 0 CCATCCTCCTCAGAGTCGGAA 0.572 13 95 --- --- --- --- PASS PIWIL3 440822 broad.mit.edu 37 22 25115858 25115858 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:25115858C>T uc003abd.1 - 20 2806 c.2389G>A c.(2389-2391)GAC>AAC p.D797N PIWIL3_uc011ajx.1_Missense_Mutation_p.D679N|PIWIL3_uc011ajy.1_Missense_Mutation_p.D679N|PIWIL3_uc010gut.1_Missense_Mutation_p.D788N NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 797 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 ATAAAAAAGTCATACCTGGAA 0.368 17 107 --- --- --- --- PASS RHBDD3 25807 broad.mit.edu 37 22 29656762 29656762 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:29656762G>C uc003aeq.1 - 5 996 c.624C>G c.(622-624)TGC>TGG p.C208W RHBDD3_uc003aer.1_RNA NM_012265 NP_036397 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 208 integral to membrane serine-type endopeptidase activity ovary(1) 1 TCAGGGGCCAGCACCCCGCCA 0.687 5 9 --- --- --- --- PASS AP1B1 162 broad.mit.edu 37 22 29754886 29754886 + Silent SNP G A A rs139994318 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:29754886G>A uc003afj.2 - 5 538 c.354C>T c.(352-354)ATC>ATT p.I118I AP1B1_uc003afi.2_Silent_p.I118I|AP1B1_uc003afk.2_Silent_p.I118I|AP1B1_uc003afl.2_Silent_p.I118I NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 118 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 GGTACTCTGTGATCTTGTCAA 0.622 4 33 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30416605 30416605 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:30416605C>G uc003agv.3 + 17 3285 c.2957C>G c.(2956-2958)TCA>TGA p.S986* MTMR3_uc003agu.3_Nonsense_Mutation_p.S986*|MTMR3_uc003agw.3_Nonsense_Mutation_p.S986* NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 986 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CACTTACACTCAAGGAACTTG 0.597 15 98 --- --- --- --- PASS OSBP2 23762 broad.mit.edu 37 22 31091221 31091221 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:31091221G>C uc003aiy.1 + 1 429 c.325G>C c.(325-327)GAG>CAG p.E109Q OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.E109Q|OSBP2_uc011alb.1_Missense_Mutation_p.E109Q|OSBP2_uc003aiz.1_Missense_Mutation_p.E109Q NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 109 lipid transport membrane lipid binding breast(1)|skin(1) 2 GCCGGGGTCAGAGTCAAGCTC 0.682 14 61 --- --- --- --- PASS RNF185 91445 broad.mit.edu 37 22 31600551 31600551 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:31600551G>T uc003akb.2 + 7 758 c.558G>T c.(556-558)ATG>ATT p.M186I RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_Missense_Mutation_p.M124I|RNF185_uc003akc.2_Missense_Mutation_p.M124I|RNF185_uc003ake.2_Missense_Mutation_p.M130I NM_152267 NP_689480 Q96GF1 RN185_HUMAN ring finger protein 185 isoform 1 186 Helical; (Potential). integral to membrane zinc ion binding 0 TGGTGATCATGTTCTGGCTCC 0.572 68 170 --- --- --- --- PASS DRG1 4733 broad.mit.edu 37 22 31829895 31829895 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:31829895C>G uc003aku.2 + 9 1173 c.1042C>G c.(1042-1044)CAG>GAG p.Q348E uc003akv.1_5'Flank NM_004147 NP_004138 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 348 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding central_nervous_system(1) 1 ACACAATCCTCAGAAAGTGGG 0.453 23 102 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32289687 32289687 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:32289687G>C uc003als.2 + 38 4202 c.4060G>C c.(4060-4062)GAG>CAG p.E1354Q DEPDC5_uc011als.1_Missense_Mutation_p.E1285Q|DEPDC5_uc011alu.1_Missense_Mutation_p.E1385Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E1376Q|DEPDC5_uc003alu.2_Missense_Mutation_p.E803Q|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.E652Q|DEPDC5_uc011alx.1_Missense_Mutation_p.E202Q|DEPDC5_uc010gwk.2_Missense_Mutation_p.E380Q|DEPDC5_uc011aly.1_Missense_Mutation_p.E202Q NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1354 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TGCAGCCTTTGAGATCAAGCT 0.537 7 112 --- --- --- --- PASS BPIL2 254240 broad.mit.edu 37 22 32813092 32813092 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:32813092C>G uc003amn.2 - 13 1304 c.1304G>C c.(1303-1305)GGA>GCA p.G435A BPIL2_uc010gwo.2_Missense_Mutation_p.G192A|BPIL2_uc011amb.1_Missense_Mutation_p.G159A NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 435 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 TGGGAGGACTCCAAAGTGAAG 0.378 16 399 --- --- --- --- PASS SYN3 8224 broad.mit.edu 37 22 32929781 32929781 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:32929781C>G uc003amx.2 - 9 1252 c.1093G>C c.(1093-1095)GAG>CAG p.E365Q SYN3_uc003amy.2_Missense_Mutation_p.E365Q|SYN3_uc003amz.2_Missense_Mutation_p.E364Q NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 365 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 TCCCTCACCTCGATGATGTAA 0.597 8 54 --- --- --- --- PASS KCNJ4 3761 broad.mit.edu 37 22 38823708 38823708 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:38823708C>G uc003avs.1 - 2 527 c.430G>C c.(430-432)GAG>CAG p.E144Q KCNJ4_uc003avt.1_Missense_Mutation_p.E144Q NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 144 Extracellular (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) GGGCACTCCTCTGTCACGCAC 0.617 12 103 --- --- --- --- PASS WBP2NL 164684 broad.mit.edu 37 22 42423026 42423026 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:42423026C>T uc011ape.1 + 7 787 c.771C>T c.(769-771)CTC>CTT p.L257L WBP2NL_uc003bbt.2_Silent_p.L257L|WBP2NL_uc011apk.1_Silent_p.L129L|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 257 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|9.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding ovary(2) 2 CCCCACCTCTCGGATATGGAG 0.612 66 402 --- --- --- --- PASS SERHL2 253190 broad.mit.edu 37 22 42956238 42956238 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:42956238C>G uc003bcr.2 + 8 682 c.580C>G c.(580-582)CTC>GTC p.L194V SERHL_uc011apm.1_Intron|SERHL2_uc011apn.1_Missense_Mutation_p.L180V|SERHL2_uc010gyz.2_Missense_Mutation_p.L130V|SERHL2_uc010gyy.2_RNA|SERHL2_uc011apo.1_RNA|RRP7B_uc003bcs.2_Intron NM_014509 NP_055324 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 194 perinuclear region of cytoplasm|peroxisome hydrolase activity 0 CGGGGAGCTTCTCCTGCAAAG 0.488 11 126 --- --- --- --- PASS C22orf9 23313 broad.mit.edu 37 22 45598926 45598926 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:45598926G>T uc003bfx.1 - 7 863 c.797C>A c.(796-798)ACA>AAA p.T266K C22orf9_uc010gzw.1_Missense_Mutation_p.T118K|C22orf9_uc003bfv.1_Missense_Mutation_p.T275K|C22orf9_uc003bfw.1_Missense_Mutation_p.T271K|C22orf9_uc010gzx.2_Missense_Mutation_p.T248K|MIR1249_hsa-mir-1249|MI0006384_5'Flank NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 266 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) ACAGGGGGATGTGTCACCTGT 0.632 45 140 --- --- --- --- PASS C22orf9 23313 broad.mit.edu 37 22 45601129 45601129 + Missense_Mutation SNP T A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:45601129T>A uc003bfx.1 - 5 551 c.485A>T c.(484-486)AAC>ATC p.N162I C22orf9_uc010gzw.1_Missense_Mutation_p.N14I|C22orf9_uc003bfv.1_Missense_Mutation_p.N171I|C22orf9_uc003bfw.1_Missense_Mutation_p.N167I|C22orf9_uc010gzx.2_Missense_Mutation_p.N144I NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 162 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) GAAGAAGATGTTGGGGTAGCT 0.547 30 125 --- --- --- --- PASS ZBED4 9889 broad.mit.edu 37 22 50279761 50279761 + Silent SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:50279761G>A uc003bix.2 + 2 2921 c.2451G>A c.(2449-2451)CTG>CTA p.L817L NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 817 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GGAAGACGCTGAACGAGGGGG 0.612 6 26 --- --- --- --- PASS SAPS2 9701 broad.mit.edu 37 22 50845188 50845188 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr22:50845188G>A uc003blb.1 + 5 720 c.298G>A c.(298-300)GAG>AAG p.E100K SAPS2_uc003bky.1_Missense_Mutation_p.E100K|SAPS2_uc003bkz.1_Missense_Mutation_p.E100K|SAPS2_uc003blc.2_Missense_Mutation_p.E100K|SAPS2_uc003bla.1_Missense_Mutation_p.E100K NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 100 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) CGGTGGGGACGAGAGCCTGCT 0.547 64 399 --- --- --- --- PASS ARSF 416 broad.mit.edu 37 X 3021944 3021944 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:3021944G>A uc004cre.1 + 9 1465 c.1244G>A c.(1243-1245)GGA>GAA p.G415E ARSF_uc004crf.1_Missense_Mutation_p.G415E NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 415 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCAGTGTCAGGAGGAAGTCTC 0.443 53 44 --- --- --- --- PASS OFD1 8481 broad.mit.edu 37 X 13771553 13771553 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:13771553G>C uc004cvp.3 + 11 1481 c.1122G>C c.(1120-1122)AAG>AAC p.K374N OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.K234N|OFD1_uc010nen.2_Missense_Mutation_p.K373N|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.K333N|OFD1_uc004cvv.3_Missense_Mutation_p.K333N|OFD1_uc010neo.1_Missense_Mutation_p.K120N NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 374 Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 ATGAAAGGAAGAATAAAGGTG 0.353 4 118 --- --- --- --- PASS PDHA1 5160 broad.mit.edu 37 X 19369418 19369418 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:19369418T>C uc004czg.3 + 4 456 c.311T>C c.(310-312)CTG>CCG p.L104P PDHA1_uc004czh.3_Missense_Mutation_p.L139P|PDHA1_uc011mjc.1_Missense_Mutation_p.L108P|PDHA1_uc011mjd.1_Missense_Mutation_p.L101P|PDHA1_uc010nfk.2_Missense_Mutation_p.L101P NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 104 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) TGTGTGGGCCTGGAGGCCGGC 0.498 33 103 --- --- --- --- PASS ZNF645 158506 broad.mit.edu 37 X 22292313 22292313 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:22292313C>A uc004dai.1 + 1 1254 c.1205C>A c.(1204-1206)ACG>AAG p.T402K NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 402 intracellular zinc ion binding lung(1)|pancreas(1) 2 TGTCCACCAACGCGGAGTCCA 0.458 42 98 --- --- --- --- PASS EIF2S3 1968 broad.mit.edu 37 X 24078262 24078262 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:24078262C>T uc004dbc.2 + 5 462 c.441C>T c.(439-441)AAC>AAT p.N147N NM_001415 NP_001406 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, 147 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity lung(1) 1 CTATGCTGAACGGTGCAGCAG 0.373 11 54 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31496327 31496327 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:31496327C>T uc004dda.1 - 59 9077 c.8833G>A c.(8833-8835)GAG>AAG p.E2945K DMD_uc004dcq.1_Missense_Mutation_p.E216K|DMD_uc004dcr.1_Missense_Mutation_p.E485K|DMD_uc004dcs.1_Missense_Mutation_p.E485K|DMD_uc004dct.1_Missense_Mutation_p.E485K|DMD_uc004dcu.1_Missense_Mutation_p.E485K|DMD_uc004dcv.1_Missense_Mutation_p.E485K|DMD_uc004dcw.2_Missense_Mutation_p.E1601K|DMD_uc004dcx.2_Missense_Mutation_p.E1604K|DMD_uc004dcz.2_Missense_Mutation_p.E2822K|DMD_uc004dcy.1_Missense_Mutation_p.E2941K|DMD_uc004ddb.1_Missense_Mutation_p.E2937K NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2945 Spectrin 22. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGTCCAGCTCATCCGTGGCC 0.527 18 14 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32305648 32305648 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:32305648T>C uc004dda.1 - 43 6532 c.6288A>G c.(6286-6288)CAA>CAG p.Q2096Q DMD_uc004dcw.2_Silent_p.Q752Q|DMD_uc004dcx.2_Silent_p.Q755Q|DMD_uc004dcz.2_Silent_p.Q1973Q|DMD_uc004dcy.1_Silent_p.Q2092Q|DMD_uc004ddb.1_Silent_p.Q2088Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2096 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTACCTACCCTTGTCGGTCCT 0.403 47 57 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37027712 37027712 + Missense_Mutation SNP G T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:37027712G>T uc004ddl.1 + 1 1243 c.1229G>T c.(1228-1230)CGC>CTC p.R410L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 410 ovary(3) 3 CCCAAGACTCGCATATCTAAT 0.607 40 32 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38163977 38163977 + Missense_Mutation SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:38163977T>C uc004ded.1 - 8 1013 c.845A>G c.(844-846)GAA>GGA p.E282G RPGR_uc004deb.2_Missense_Mutation_p.E282G|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_5'UTR NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 282 RCC1 5. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TTCTGAAGTTTCAAAAAGAAA 0.383 29 22 --- --- --- --- PASS ZNF673 55634 broad.mit.edu 37 X 46332325 46332325 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:46332325C>T uc004dgn.3 + 6 693 c.394C>T c.(394-396)CTG>TTG p.L132L ZNF673_uc004dgp.3_3'UTR|ZNF673_uc010nhl.2_3'UTR|ZNF673_uc004dgm.3_Silent_p.L127L NM_001129898 NP_001123370 Q5JUW0 ZN673_HUMAN zinc finger family member 673 isoform 1 132 regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 AAGCATTTATCTGAGCACAGA 0.378 30 74 --- --- --- --- PASS ERAS 3266 broad.mit.edu 37 X 48688086 48688086 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:48688086C>T uc004dky.1 + 1 804 c.553C>T c.(553-555)CGG>TGG p.R185W NM_181532 NP_853510 Q7Z444 RASE_HUMAN ES cell expressed Ras precursor 185 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity lung(4)|urinary_tract(1) 5 GGCCAAAACACGGCAAGGCGT 0.622 12 6 --- --- --- --- PASS GRIPAP1 56850 broad.mit.edu 37 X 48858606 48858606 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:48858606C>T uc004dly.1 - 1 70 c.35G>A c.(34-36)CGG>CAG p.R12Q GRIPAP1_uc004dma.2_Missense_Mutation_p.R12Q NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 12 Potential. early endosome breast(2)|kidney(1) 3 CACCTGCATCCGCTGAAACTC 0.652 6 28 --- --- --- --- PASS FOXP3 50943 broad.mit.edu 37 X 49107902 49107902 + Missense_Mutation SNP G A A rs28935477 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:49107902G>A uc004dnf.3 - 12 1377 c.1189C>T c.(1189-1191)CGG>TGG p.R397W FOXP3_uc011mnb.1_Missense_Mutation_p.R420W|FOXP3_uc011mnc.1_Missense_Mutation_p.R370W|FOXP3_uc004dne.3_Missense_Mutation_p.R362W|FOXP3_uc010niq.1_Missense_Mutation_p.R422W NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN forkhead box P3 isoform a 397 Fork-head. B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding 0 Ovarian(276;0.236) CTCTCCACCCGCACAAAGCAC 0.632 3 39 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50052096 50052096 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:50052096C>T uc004dox.3 + 6 1225 c.927C>T c.(925-927)ATC>ATT p.I309I CCNB3_uc004doy.2_Silent_p.I309I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 309 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) AGACAACCATCTGTGGAGCAA 0.423 35 121 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50054316 50054316 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:50054316G>C uc004dox.3 + 6 3445 c.3147G>C c.(3145-3147)TTG>TTC p.L1049F CCNB3_uc004doy.2_Missense_Mutation_p.L1049F|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1049 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) AAACATTCTTGATCCCCCAAA 0.502 37 129 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54275803 54275803 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:54275803C>A uc004dtd.1 - 17 3417 c.2978G>T c.(2977-2979)GGA>GTA p.G993V WNK3_uc004dtc.1_Missense_Mutation_p.G993V NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 993 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TTTGGTGAGTCCCTCACATTC 0.448 39 50 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54955416 54955416 + Silent SNP T C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:54955416T>C uc004dtq.2 + 12 2366 c.2259T>C c.(2257-2259)GGT>GGC p.G753G TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G284G|TRO_uc004dtw.2_Silent_p.G356G|TRO_uc004dtx.2_Silent_p.G136G NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 753 1.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GCTTCAGTGGTGGACCTGGCA 0.542 8 25 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70601652 70601652 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:70601652G>A uc004dzu.3 + 9 1468 c.1417G>A c.(1417-1419)GAG>AAG p.E473K BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E494K NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 473 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) CATTGACAATGAGGATCTGGT 0.453 7 185 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73071858 73071858 + RNA SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:73071858C>T uc004ebm.1 - 1 c.731G>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 AAAAAAAAATCAAAGCAGGTA 0.408 5 15 --- --- --- --- PASS ABCB7 22 broad.mit.edu 37 X 74284974 74284974 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:74284974G>A uc004eca.2 - 13 1787 c.1762C>T c.(1762-1764)CAT>TAT p.H588Y ABCB7_uc004ebz.2_Missense_Mutation_p.H589Y|ABCB7_uc011mqn.1_Missense_Mutation_p.H562Y|ABCB7_uc010nls.2_Missense_Mutation_p.H549Y|ABCB7_uc010nlt.2_Missense_Mutation_p.H548Y NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 588 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 ATTGCATCATGAAGTCCAGCT 0.433 12 57 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75650539 75650539 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:75650539C>T uc004ecm.1 + 1 2423 c.2216C>T c.(2215-2217)TCA>TTA p.S739L NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 739 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GCCCCACATTCATGGCCTGAG 0.468 20 57 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76890178 76890178 + Nonsense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:76890178C>T uc004ecp.3 - 17 4948 c.4716G>A c.(4714-4716)TGG>TGA p.W1572* ATRX_uc004ecq.3_Nonsense_Mutation_p.W1534*|ATRX_uc004eco.3_Nonsense_Mutation_p.W1357* NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1572 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AGCAGCAATCCCACATAAACT 0.358 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 48 151 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77301851 77301851 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:77301851G>C uc004ecx.3 + 23 4447 c.4287G>C c.(4285-4287)AAG>AAC p.K1429N NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1429 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TAGGACAGAAGAGTCCTTCAG 0.423 163 151 --- --- --- --- PASS LPAR4 2846 broad.mit.edu 37 X 78010547 78010547 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:78010547C>G uc010nme.2 + 2 586 c.181C>G c.(181-183)CTG>GTG p.L61V NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 61 Helical; Name=1; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 CAGTGTCTCTCTGTTTGTCTT 0.373 99 264 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79279607 79279607 + Silent SNP A T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:79279607A>T uc010nmg.1 + 4 536 c.402A>T c.(400-402)CCA>CCT p.P134P TBX22_uc004edi.1_Silent_p.P14P|TBX22_uc004edj.1_Silent_p.P134P NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 134 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GGTTGGATCCAGGGAAGCAGT 0.507 30 38 --- --- --- --- PASS MORC4 79710 broad.mit.edu 37 X 106228351 106228351 + Missense_Mutation SNP G A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:106228351G>A uc004emu.3 - 5 892 c.649C>T c.(649-651)CGT>TGT p.R217C MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.R217C|MORC4_uc004emw.3_Intron NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 217 ATP binding|zinc ion binding ovary(1) 1 ATGAGAACACGAGTGCCTTTT 0.388 43 115 --- --- --- --- PASS CXorf41 139212 broad.mit.edu 37 X 106466060 106466060 + Missense_Mutation SNP A G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:106466060A>G uc004enc.2 + 5 480 c.418A>G c.(418-420)AGT>GGT p.S140G CXorf41_uc004end.2_Missense_Mutation_p.S140G NM_173494 NP_775765 Q9NQM4 CX041_HUMAN hypothetical protein LOC139212 140 0 AGGTTGTTGCAGTGAACTAGT 0.358 37 89 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107403859 107403859 + Silent SNP G A A rs139555294 byFrequency TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:107403859G>A uc004enw.3 - 43 4465 c.4362C>T c.(4360-4362)TTC>TTT p.F1454F COL4A6_uc004env.3_Silent_p.F1453F|COL4A6_uc011msn.1_Silent_p.F1429F|COL4A6_uc010npk.2_Silent_p.F1396F|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1454 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CAGGCATCCCGAAGGGGCCTT 0.522 Alport_syndrome_with_Diffuse_Leiomyomatosis 6 117 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111195371 111195371 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:111195371C>G uc004epl.1 - 2 1197 c.278G>C c.(277-279)AGC>ACC p.S93T TRPC5_uc004epm.1_Missense_Mutation_p.S93T NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 93 ANK 2.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CACATACACGCTGTGGTTCAG 0.557 81 93 --- --- --- --- PASS LONRF3 79836 broad.mit.edu 37 X 118143099 118143099 + Nonsense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:118143099C>G uc004eqw.2 + 7 1572 c.1541C>G c.(1540-1542)TCA>TGA p.S514* LONRF3_uc004eqx.2_Nonsense_Mutation_p.S473*|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Nonsense_Mutation_p.S258* NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 514 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 TGCTTGGCATCAAGAAAATAC 0.383 26 85 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 124029949 124029949 + Missense_Mutation SNP G C C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:124029949G>C uc004euj.2 - 2 423 c.359C>G c.(358-360)GCA>GGA p.A120G ODZ1_uc011muj.1_Missense_Mutation_p.A120G|ODZ1_uc010nqy.2_Missense_Mutation_p.A120G NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 120 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CATTCTTAGTGCATGGTCAGG 0.498 82 243 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128692883 128692883 + Silent SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:128692883C>G uc004euq.2 + 8 792 c.627C>G c.(625-627)CTC>CTG p.L209L OCRL_uc004eur.2_Silent_p.L209L NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 209 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 TGCGGAAGCTCTTTGTACCAA 0.428 10 120 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141291553 141291553 + Missense_Mutation SNP C A A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:141291553C>A uc004fbu.1 - 3 569 c.221G>T c.(220-222)GGT>GTT p.G74V NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 74 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGGTATCACACCAGAGGGCAC 0.393 HNSCC(46;0.14) 51 25 --- --- --- --- PASS FMR1 2332 broad.mit.edu 37 X 147018994 147018994 + Missense_Mutation SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:147018994C>T uc010nst.2 + 11 1189 c.1000C>T c.(1000-1002)CCA>TCA p.P334S FMR1_uc004fcj.2_Missense_Mutation_p.P332S|FMR1_uc004fck.3_Missense_Mutation_p.P334S|FMR1_uc004fcl.3_Missense_Mutation_p.P195S|FMR1_uc011mxa.1_Missense_Mutation_p.P2S NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 334 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) GGAAATTATGCCACCAAATTC 0.264 Fragile_X_syndrome 4 141 --- --- --- --- PASS OPN1LW 5956 broad.mit.edu 37 X 153416362 153416362 + Missense_Mutation SNP C G G rs1065422 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:153416362C>G uc004fjz.3 + 2 380 c.347C>G c.(346-348)TCT>TGT p.S116C NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 116 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AACCAGGTCTCTGGCTACTTC 0.617 30 107 --- --- --- --- PASS OPN1LW 5956 broad.mit.edu 37 X 153416372 153416372 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:153416372C>G uc004fjz.3 + 2 390 c.357C>G c.(355-357)TTC>TTG p.F119L NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 119 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGGCTACTTCGTGCTGGGCC 0.607 27 104 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154159454 154159454 + Missense_Mutation SNP C G G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:154159454C>G uc004fmt.2 - 14 2782 c.2611G>C c.(2611-2613)GAG>CAG p.E871Q NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 871 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGGCCTGACTCAGGGGTAAAT 0.423 35 76 --- --- --- --- PASS MTCP1 4515 broad.mit.edu 37 X 154294059 154294059 + Silent SNP C T T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chrX:154294059C>T uc004fmz.2 - 3 737 c.111G>A c.(109-111)ACG>ACA p.T37T MTCP1NB_uc004fmy.2_Intron NM_001018025 NP_001018025 P56278 MTCP1_HUMAN mature T-cell proliferation 1 37 cell proliferation lung(1) 1 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTAGGAAACTCGTCTCCTAAT 0.423 T TRA@ T cell prolymphocytic leukemia 62 47 --- --- --- --- PASS SLC4A7 9497 broad.mit.edu 37 3 27424683 27424683 + Frame_Shift_Del DEL C - - TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr3:27424683delC uc003cdv.2 - 24 3595 c.3524delG c.(3523-3525)GGAfs p.G1175fs SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Frame_Shift_Del_p.G1056fs|SLC4A7_uc011aww.1_Frame_Shift_Del_p.G1184fs|SLC4A7_uc011awx.1_Frame_Shift_Del_p.G1171fs|SLC4A7_uc011awy.1_Frame_Shift_Del_p.G1167fs|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Frame_Shift_Del_p.G1056fs|SLC4A7_uc011axb.1_Frame_Shift_Del_p.G1171fs|SLC4A7_uc010hfl.2_Frame_Shift_Del_p.G725fs|SLC4A7_uc003cdw.2_Frame_Shift_Del_p.G1051fs NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 1175 Cytoplasmic (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 CAAGAGACTTCCCCCTTCAAA 0.363 128 68 --- --- --- --- KIAA0649 9858 broad.mit.edu 37 9 138376850 138376850 + Frame_Shift_Del DEL C - - TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr9:138376850delC uc004cfr.1 + 4 1043 c.494delC c.(493-495)GCCfs p.A165fs NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 165 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CCTTCCAGGGCCGCAGGCGGA 0.672 37 35 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1265952 1265952 + Frame_Shift_Del DEL G - - TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:1265952delG uc009ycr.1 + 48 9882 c.9756delG c.(9754-9756)ACGfs p.T3252fs MUC5B_uc001ltb.2_Frame_Shift_Del_p.T2617fs NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2614 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACAACCACGGGCTTCACAG 0.647 59 39 --- --- --- --- OR51A4 401666 broad.mit.edu 37 11 4967535 4967535 + Frame_Shift_Del DEL C - - TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:4967535delC uc010qys.1 - 1 796 c.796delG c.(796-798)GCCfs p.A266fs NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACATGCCGGGCAAAGCGGTGG 0.453 91 48 --- --- --- --- OR8B8 26493 broad.mit.edu 37 11 124310156 124310156 + Frame_Shift_Del DEL G - - TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr11:124310156delG uc010sal.1 - 1 826 c.826delC c.(826-828)CTAfs p.L276fs NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GTATAGAATAGGGAAGACACC 0.418 100 58 --- --- --- --- LOC284232 284232 broad.mit.edu 37 13 19420047 19420053 + RNA DEL TTCGTAT - - rs117180361 by1000genomes TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:19420047_19420053delTTCGTAT uc010tcj.1 - 1 c.26057_26063delATACGAA NR_027995 Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA. 0 ATAACATTTCTTCGTATTTTATATTTT 0.246 4 2 --- --- --- --- DZIP1 22873 broad.mit.edu 37 13 96237022 96237022 + Frame_Shift_Del DEL C - - TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr13:96237022delC uc001vmk.2 - 22 3344 c.2492delG c.(2491-2493)GGCfs p.G831fs DZIP1_uc001vmi.2_Frame_Shift_Del_p.G79fs|DZIP1_uc001vmj.2_Frame_Shift_Del_p.G307fs|DZIP1_uc001vml.2_Frame_Shift_Del_p.G812fs|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 831 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ATTAAATGCGCCCCAGGCATT 0.413 156 103 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61574285 61574287 + In_Frame_Del DEL GGA - - rs138240046 TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 57debe39-f57d-400a-a860-3de357d6bec1 9f36f553-8a12-4eb2-85e9-61c56d1c56e3 g.chr17:61574285_61574287delGGA uc002jau.1 + 24 3652_3654 c.3630_3632delGGA c.(3628-3633)ACGGAG>ACG p.E1211del ACE_uc002jav.1_In_Frame_Del_p.E637del|ACE_uc010ddv.1_In_Frame_Del_p.E438del|ACE_uc010wpj.1_In_Frame_Del_p.E596del|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_In_Frame_Del_p.E416del NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 1211 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGCTCCGCACGGAGAACGAGCTG 0.655 32 18 --- --- --- ---