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 TAS1R3 83756 broad.mit.edu 37 1 1267896 1267896 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:1267896G>A uc010nyk.1 + 3 985 c.985G>A c.(985-987)GCC>ACC p.A329T NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 329 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCAGAGGGGTGCCCAGCTGCA 0.692 7 26 --- --- --- --- PASS PADI4 23569 broad.mit.edu 37 1 17674483 17674483 + Silent SNP C A A rs144009145 byFrequency TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:17674483C>A uc001baj.2 + 10 1123 c.1095C>A c.(1093-1095)CCC>CCA p.P365P PADI4_uc009vpc.2_Silent_p.P365P NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 365 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) AAACGCTGCCCGTGGTCTTCG 0.592 7 25 --- --- --- --- PASS PLA2G2F 64600 broad.mit.edu 37 1 20474719 20474719 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:20474719G>A uc009vpp.1 + 5 559 c.461G>A c.(460-462)TGC>TAC p.C154Y NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 111 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) AAGCAGACATGCATGTGTGAC 0.567 25 56 --- --- --- --- PASS SRRM1 10250 broad.mit.edu 37 1 24995804 24995804 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:24995804A>G uc001bjm.2 + 14 2154 c.1930A>G c.(1930-1932)AGA>GGA p.R644G SRRM1_uc010oel.1_Missense_Mutation_p.R656G|SRRM1_uc009vrh.1_Missense_Mutation_p.R617G|SRRM1_uc009vri.1_Missense_Mutation_p.R573G NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 644 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TCCCAAACAAAGAAGCTCCCC 0.552 14 37 --- --- --- --- PASS TCTEX1D1 200132 broad.mit.edu 37 1 67243030 67243030 + Nonsense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:67243030G>T uc001dcv.2 + 5 564 c.433G>T c.(433-435)GGA>TGA p.G145* TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 145 0 CATACTTATTGGAAGCAGATG 0.393 42 88 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77752625 77752625 + Splice_Site SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:77752625G>T uc001dhn.2 + 2 318 c.61_splice c.e2-1 p.S21_splice AK5_uc001dho.2_Intron|AK5_uc001dhm.1_Splice_Site_p.S21_splice NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TTATATTTCAGAGCCTTTTGA 0.274 11 43 --- --- --- --- PASS GSTM5 2949 broad.mit.edu 37 1 110255794 110255794 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:110255794G>T uc001dyn.2 + 3 237 c.166G>T c.(166-168)GAC>TAC p.D56Y GSTM5_uc010ovu.1_5'UTR NM_000851 NP_000842 P46439 GSTM5_HUMAN glutathione S-transferase mu 5 56 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity central_nervous_system(6) 6 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GCTGGGCCTGGACTTTCCCAA 0.537 16 53 --- --- --- --- PASS HORMAD1 84072 broad.mit.edu 37 1 150680853 150680853 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:150680853C>G uc001evk.1 - 9 532 c.426G>C c.(424-426)TTG>TTC p.L142F HORMAD1_uc001evl.1_Missense_Mutation_p.L135F|HORMAD1_uc001evm.1_Missense_Mutation_p.L62F NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 142 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TGTCAGTAGACAACATGCTAG 0.328 15 38 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158516935 158516935 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:158516935C>G uc010pil.1 - 1 961 c.961G>C c.(961-963)GGG>CGG p.G321R NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 321 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CTGAAAGCCCCATTTCCCTGG 0.463 18 45 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517161 158517161 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:158517161G>T uc010pil.1 - 1 735 c.735C>A c.(733-735)ACC>ACA p.T245T NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GGGAGGCACAGGTGGAGAATG 0.507 5 49 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517162 158517162 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:158517162G>T uc010pil.1 - 1 734 c.734C>A c.(733-735)ACC>AAC p.T245N NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GGAGGCACAGGTGGAGAATGC 0.502 5 49 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158615049 158615049 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:158615049G>A uc001fst.1 - 29 4322 c.4123C>T c.(4123-4125)CTA>TTA p.L1375L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1375 Spectrin 13. 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) TCTCTCTCTAGCTTGACAGCT 0.478 29 97 --- --- --- --- PASS OR10J3 441911 broad.mit.edu 37 1 159283536 159283536 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:159283536C>T uc010piu.1 - 1 914 c.914G>A c.(913-915)CGT>CAT p.R305H NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) TTTTGCCCCACGGCTCTGTGC 0.428 24 66 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174188304 174188304 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:174188304C>T uc001gjx.2 + 2 204 c.9C>T c.(7-9)GTC>GTT p.V3V RABGAP1L_uc009wwq.1_Silent_p.V3V|RABGAP1L_uc001gjw.2_Silent_p.V3V NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 3 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 AAATGGAGGTCAGAGCTTCAT 0.353 5 31 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179631350 179631350 + Missense_Mutation SNP G A A rs145054790 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:179631350G>A uc001gnf.1 + 14 2522 c.2272G>A c.(2272-2274)GCC>ACC p.A758T TDRD5_uc010pnp.1_Missense_Mutation_p.A812T|TDRD5_uc001gnh.1_Missense_Mutation_p.A313T NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 758 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AGGTGATGCTGCCTCCCATCT 0.433 13 48 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186934540 186934540 + Splice_Site SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:186934540G>T uc001gsc.2 + 15 1785 c.1580_splice c.e15-1 p.D527_splice PLA2G4A_uc010pos.1_Splice_Site_p.D467_splice NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ATGTTTTTAAGATCCTGATGA 0.308 12 33 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197021801 197021801 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:197021801G>T uc001gtt.1 - 9 1562 c.1518C>A c.(1516-1518)AAC>AAA p.N506K NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 506 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTTCTCCTCTGTTGCACTGCA 0.343 16 36 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202724408 202724408 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:202724408T>C uc001gyf.2 - 11 1645 c.1529A>G c.(1528-1530)TAC>TGC p.Y510C KDM5B_uc009xag.2_Missense_Mutation_p.Y546C|KDM5B_uc001gyg.1_Missense_Mutation_p.Y352C NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 510 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CCAGTGCAAGTAGTTAATTGA 0.408 24 58 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211093036 211093036 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:211093036C>A uc001hib.2 - 7 1578 c.1408G>T c.(1408-1410)GCC>TCC p.A470S KCNH1_uc001hic.2_Missense_Mutation_p.A443S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 470 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTGGATGGGGCGATGTTCCCA 0.507 4 107 --- --- --- --- PASS LEFTY1 10637 broad.mit.edu 37 1 226075599 226075599 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:226075599G>T uc001hpo.2 - 2 454 c.384C>A c.(382-384)GCC>GCA p.A128A LEFTY1_uc010pvj.1_Missense_Mutation_p.R237S|LEFTY1_uc009xej.1_Silent_p.A128A NM_020997 NP_066277 O75610 LFTY1_HUMAN left-right determination, factor B 128 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) TGTGCAGCGCGGCCTTGGGGA 0.746 3 2 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240255953 240255953 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:240255953G>T uc010pyd.1 + 1 769 c.544G>T c.(544-546)GAC>TAC p.D182Y FMN2_uc010pye.1_Missense_Mutation_p.D182Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 182 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) CTCGGACACGGACATCTATAG 0.532 13 25 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248059542 248059542 + Nonsense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr1:248059542C>G uc001idp.1 + 3 923 c.654C>G c.(652-654)TAC>TAG p.Y218* OR2W3_uc010pzb.1_Nonsense_Mutation_p.Y218* NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCTCTCTTACAGCTACATTG 0.567 40 127 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20113879 20113879 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:20113879T>C uc002rdi.2 - 27 3422 c.3314A>G c.(3313-3315)TAT>TGT p.Y1105C WDR35_uc002rdj.2_Missense_Mutation_p.Y1094C|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Intron NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 1105 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGGTCTTCATACTGCTGTTT 0.398 42 68 --- --- --- --- PASS C2orf84 653140 broad.mit.edu 37 2 24413499 24413499 + Nonstop_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:24413499G>T uc002rfc.2 + 6 706 c.620G>T c.(619-621)TGA>TTA p.*207L C2orf84_uc010eyc.2_RNA NM_001040710 NP_001035800 Q86W67 CB084_HUMAN hypothetical protein LOC653140 207 0 GTTCCAGAATGAGCCACCGCC 0.617 6 27 --- --- --- --- PASS GALNT14 79623 broad.mit.edu 37 2 31133804 31133804 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:31133804G>A uc002rnr.2 - 15 2241 c.1622C>T c.(1621-1623)TCA>TTA p.S541L GALNT14_uc002rnq.2_Missense_Mutation_p.S521L|GALNT14_uc002rns.2_Missense_Mutation_p.S546L|GALNT14_uc010ymr.1_Missense_Mutation_p.S506L NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 541 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GCTCATGAGTGAGGACTCACA 0.567 22 56 --- --- --- --- PASS MEMO1 51072 broad.mit.edu 37 2 32117201 32117201 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:32117201T>C uc002rnx.2 - 6 822 c.440A>G c.(439-441)CAT>CGT p.H147R MEMO1_uc010ymu.1_Missense_Mutation_p.H124R|MEMO1_uc010ezq.2_Missense_Mutation_p.H147R|MEMO1_uc002rny.2_Intron|MEMO1_uc002rnz.2_RNA NM_015955 NP_057039 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 isoform 1 147 regulation of microtubule-based process cytosol|nucleus ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) CTCATCCTTATGGCTTAAAGA 0.328 39 70 --- --- --- --- PASS C2orf63 130162 broad.mit.edu 37 2 55435829 55435829 + Nonsense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:55435829C>A uc002ryi.2 - 8 1178 c.832G>T c.(832-834)GAA>TAA p.E278* C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Nonsense_Mutation_p.E156* NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 278 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) ATTAGTTCTTCAACAATGCCT 0.313 47 63 --- --- --- --- PASS MPHOSPH10 10199 broad.mit.edu 37 2 71376518 71376518 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:71376518A>T uc002sht.1 + 10 2183 c.1831A>T c.(1831-1833)AGC>TGC p.S611C NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 611 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 AGGGAAATACAGCAAAACAGT 0.408 19 17 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71743340 71743340 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:71743340G>T uc002sie.2 + 8 1199 c.823G>T c.(823-825)GGG>TGG p.G275W DYSF_uc010feg.2_Missense_Mutation_p.G306W|DYSF_uc010feh.2_Missense_Mutation_p.G275W|DYSF_uc002sig.3_Missense_Mutation_p.G275W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G275W|DYSF_uc010fef.2_Missense_Mutation_p.G306W|DYSF_uc010fei.2_Missense_Mutation_p.G306W|DYSF_uc010fek.2_Missense_Mutation_p.G307W|DYSF_uc010fej.2_Missense_Mutation_p.G276W|DYSF_uc010fel.2_Missense_Mutation_p.G276W|DYSF_uc010feo.2_Missense_Mutation_p.G307W|DYSF_uc010fem.2_Missense_Mutation_p.G276W|DYSF_uc010fen.2_Missense_Mutation_p.G307W|DYSF_uc002sif.2_Missense_Mutation_p.G276W NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 275 Cytoplasmic (Potential).|C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGACTCTCCTGGGGAGCTGTT 0.502 21 25 --- --- --- --- PASS HK2 3099 broad.mit.edu 37 2 75113668 75113668 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:75113668T>A uc002snd.2 + 15 4013 c.2087T>A c.(2086-2088)GTG>GAG p.V696E NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 696 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GTGGAACTGGTGGAAGGAGAA 0.572 10 67 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79349183 79349183 + Missense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:79349183G>C uc002snz.2 + 4 356 c.253G>C c.(253-255)GCC>CCC p.A85P REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.A85P NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 85 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TGCCTTTGTGGCCTCACTGAT 0.507 43 76 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530771 80530771 + Silent SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:80530771G>C uc002sok.1 - 2 444 c.174C>G c.(172-174)ACC>ACG p.T58T CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 58 LRRNT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GGGGCGCCTCGGTGAGGTTGA 0.701 HNSCC(69;0.2) 11 49 --- --- --- --- PASS DBI 1622 broad.mit.edu 37 2 120129848 120129848 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:120129848C>G uc002tlv.2 + 4 342 c.218C>G c.(217-219)GCT>GGT p.A73G DBI_uc010yyh.1_Missense_Mutation_p.A90G|DBI_uc010yyi.1_Missense_Mutation_p.A90G|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.A115G|DBI_uc010yyl.1_Missense_Mutation_p.A90G|DBI_uc010yym.1_Missense_Mutation_p.A83G|DBI_uc010yyn.1_Missense_Mutation_p.A90G|DBI_uc002tlw.2_Missense_Mutation_p.A90G|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.A74G NM_001079862 NP_001073331 P07108 ACBP_HUMAN diazepam binding inhibitor isoform 3 73 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding 0 GCCATGAAAGCTTACATCAAC 0.448 18 58 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128394440 128394440 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:128394440G>A uc002top.2 + 46 6254 c.6201G>A c.(6199-6201)GCG>GCA p.A2067A MYO7B_uc002tos.1_Silent_p.A177A|MYO7B_uc002tot.2_Silent_p.A177A NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 2067 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TCCACATGGCGCTGGGGAGCC 0.637 9 50 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133531428 133531428 + Missense_Mutation SNP C A A rs150198489 by1000genomes TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:133531428C>A uc002ttp.2 - 16 5463 c.5089G>T c.(5089-5091)GAT>TAT p.D1697Y NCKAP5_uc002ttq.2_Missense_Mutation_p.D378Y NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1697 protein binding 0 GCAACTGCATCGTCTTCATCC 0.333 22 90 --- --- --- --- PASS TBR1 10716 broad.mit.edu 37 2 162276709 162276709 + Missense_Mutation SNP T G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:162276709T>G uc002ubw.1 + 5 1433 c.1131T>G c.(1129-1131)ATT>ATG p.I377M TBR1_uc010foy.2_Missense_Mutation_p.I90M NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 377 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TTTGCCAGATTACACAACTGA 0.358 3 56 --- --- --- --- PASS SLC38A11 151258 broad.mit.edu 37 2 165802148 165802148 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:165802148C>A uc002ucv.1 - 5 688 c.151G>T c.(151-153)GGG>TGG p.G51W SLC38A11_uc002ucu.1_Missense_Mutation_p.G51W|SLC38A11_uc002ucw.1_Missense_Mutation_p.G51W NM_173512 NP_775783 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 51 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1) 1 AGCAGATACCCTGGAAAGCCG 0.388 12 60 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167328866 167328866 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:167328866T>A uc002udu.1 - 5 660 c.533A>T c.(532-534)GAT>GTT p.D178V SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 178 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 GTTCCATGGATCACCGAGGAA 0.353 3 7 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179422805 179422805 + Silent SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:179422805A>G uc010zfg.1 - 277 79796 c.79572T>C c.(79570-79572)AAT>AAC p.N26524N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N20219N|TTN_uc010zfi.1_Silent_p.N20152N|TTN_uc010zfj.1_Silent_p.N20027N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27451 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) TAATTTCGGTATTAAATCTCA 0.428 29 66 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179455978 179455978 + Silent SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:179455978A>T uc010zfg.1 - 253 52994 c.52770T>A c.(52768-52770)GGT>GGA p.G17590G uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G11285G|TTN_uc010zfi.1_Silent_p.G11218G|TTN_uc010zfj.1_Silent_p.G11093G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18517 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) CTGTTTTGCTACCGGCTGCAT 0.418 11 245 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611166 179611166 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:179611166C>A uc002unb.2 - 46 16185 c.15961G>T c.(15961-15963)GTT>TTT p.V5321F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AATTCTTTAACGTCTTTTTCA 0.363 11 39 --- --- --- --- PASS NRP2 8828 broad.mit.edu 37 2 206631516 206631516 + Nonsense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:206631516C>A uc002vaw.2 + 15 3205 c.2414C>A c.(2413-2415)TCG>TAG p.S805* NRP2_uc002vau.2_Nonsense_Mutation_p.S805*|NRP2_uc002vav.2_Nonsense_Mutation_p.S805*|NRP2_uc002vax.2_Nonsense_Mutation_p.S805*|NRP2_uc002vay.2_Nonsense_Mutation_p.S805* NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 805 Extracellular (Potential). angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 GAACCCATCTCGGCTTTTGCA 0.333 OREG0015156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 76 --- --- --- --- PASS TTLL4 9654 broad.mit.edu 37 2 219614020 219614020 + Missense_Mutation SNP G T T rs138019885 byFrequency TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:219614020G>T uc002viy.2 + 14 3015 c.2645G>T c.(2644-2646)CGG>CTG p.R882L TTLL4_uc010zkl.1_Missense_Mutation_p.R717L|TTLL4_uc010fvx.2_Missense_Mutation_p.R818L|TTLL4_uc010zkm.1_Missense_Mutation_p.R85L NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 882 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TATGTGCGACGGCCCTATAGC 0.522 12 42 --- --- --- --- PASS ATG9A 79065 broad.mit.edu 37 2 220089411 220089411 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr2:220089411G>A uc002vke.1 - 8 868 c.682C>T c.(682-684)CTG>TTG p.L228L ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.L228L NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 228 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCAGAGGCAGGAGGGATTTG 0.557 15 57 --- --- --- --- PASS CCR4 1233 broad.mit.edu 37 3 32994962 32994962 + Nonsense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:32994962C>A uc003cfg.1 + 2 216 c.48C>A c.(46-48)TAC>TAA p.Y16* NM_005508 NP_005499 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 16 Extracellular (Potential). chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane lung(1) 1 AAAGCATATACAGCAATTACT 0.488 15 24 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38791575 38791575 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:38791575G>T uc003ciq.2 - 12 1856 c.1856C>A c.(1855-1857)TCC>TAC p.S619Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 619 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTCAAGGACGGAGGTTATGAT 0.458 9 16 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39228203 39228203 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:39228203G>T uc003cjk.1 - 2 2955 c.2734C>A c.(2734-2736)CTG>ATG p.L912M XIRP1_uc003cji.2_Missense_Mutation_p.L912M|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 912 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CGGGGCTGCAGAGAGTAGGCA 0.622 12 22 --- --- --- --- PASS LZTFL1 54585 broad.mit.edu 37 3 45879503 45879503 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:45879503A>T uc003cox.1 - 2 182 c.44T>A c.(43-45)ATT>AAT p.I15N LZTFL1_uc003coy.1_5'UTR|LZTFL1_uc011bak.1_Intron NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 15 0 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CATATAATTAATAACTTCATT 0.393 7 35 --- --- --- --- PASS VPRBP 9730 broad.mit.edu 37 3 51475638 51475638 + Silent SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:51475638T>C uc003dbe.1 - 8 957 c.789A>G c.(787-789)GGA>GGG p.G263G VPRBP_uc003dbg.1_Silent_p.G263G NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 263 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TTTTCTTTAATCCTCCATCCT 0.433 63 85 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049395 109049395 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:109049395C>A uc003dxq.3 - 5 710 c.655G>T c.(655-657)GTG>TTG p.V219L DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.V219L NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 219 nucleus protein binding upper_aerodigestive_tract(1) 1 GGAGATTCCACTGCCTCTGGT 0.493 19 43 --- --- --- --- PASS CCDC14 64770 broad.mit.edu 37 3 123663744 123663744 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:123663744A>T uc011bjx.1 - 9 1530 c.1439T>A c.(1438-1440)ATA>AAA p.I480K CCDC14_uc003egv.3_Missense_Mutation_p.I121K|CCDC14_uc003egx.3_Missense_Mutation_p.I280K|CCDC14_uc010hrt.2_Missense_Mutation_p.I439K|CCDC14_uc003egy.3_Missense_Mutation_p.I280K|CCDC14_uc003egz.2_Missense_Mutation_p.I280K NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 480 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GGCCAGTGCTATCTCAACTTG 0.383 9 17 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124438217 124438217 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:124438217G>A uc003ehg.2 + 60 8988 c.8861G>A c.(8860-8862)CGC>CAC p.R2954H KALRN_uc003ehk.2_Missense_Mutation_p.R1257H NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2953 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GACACCTCCCGCCTAGCATGC 0.552 14 33 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124746240 124746240 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:124746240C>T uc003ehs.3 - 3 790 c.722G>A c.(721-723)GGG>GAG p.G241E HEG1_uc011bke.1_Missense_Mutation_p.G241E NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 241 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 TTCTGACAGCCCCATCGCCCT 0.547 6 19 --- --- --- --- PASS ZXDC 79364 broad.mit.edu 37 3 126180940 126180940 + Missense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:126180940G>C uc003eiv.2 - 6 1619 c.1565C>G c.(1564-1566)GCT>GGT p.A522G ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.A522G NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 522 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) AGAACCACTAGCATTGGCAGG 0.547 32 54 --- --- --- --- PASS ACPP 55 broad.mit.edu 37 3 132075647 132075647 + Silent SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:132075647T>C uc010htp.2 + 10 1176 c.1086T>C c.(1084-1086)CCT>CCC p.P362P ACPP_uc003eon.3_Silent_p.P329P|ACPP_uc003eop.3_Silent_p.P362P NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 362 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 TGGTTGGCCCTGTGATCCCTC 0.537 4 102 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169540634 169540634 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:169540634G>T uc003fgb.2 + 1 925 c.925G>T c.(925-927)GAC>TAC p.D309Y NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 309 LRR 13. 0 GCGCTTCCTGGACCTAAGCCA 0.572 7 21 --- --- --- --- PASS GNB4 59345 broad.mit.edu 37 3 179123052 179123052 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:179123052C>A uc003fjv.3 - 9 1122 c.842G>T c.(841-843)AGT>ATT p.S281I GNB4_uc003fju.3_Intron NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 281 WD 6. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) GAGACGCCCACTTTTTGAGAA 0.418 3 64 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180328311 180328311 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr3:180328311G>T uc003fkk.2 + 12 2426 c.2294G>T c.(2293-2295)GGA>GTA p.G765V TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 765 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAGAAAAAGGAAATAAGTCA 0.303 17 36 --- --- --- --- PASS POLN 353497 broad.mit.edu 37 4 2200252 2200252 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:2200252G>A uc003ger.2 - 4 907 c.907C>T c.(907-909)CGG>TGG p.R303W POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.R303W NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 303 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ATTTCTTACCGGGCAAATTGT 0.418 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 14 88 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5630349 5630349 + Missense_Mutation SNP C T T rs145693546 byFrequency TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:5630349C>T uc003gij.2 - 12 1877 c.1823G>A c.(1822-1824)CGT>CAT p.R608H EVC2_uc011bwb.1_Missense_Mutation_p.R48H|EVC2_uc003gik.2_Missense_Mutation_p.R528H NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 608 integral to membrane large_intestine(3)|ovary(2) 5 GCCCTGCACACGGGTCTCTGA 0.498 12 70 --- --- --- --- PASS SEPSECS 51091 broad.mit.edu 37 4 25146715 25146715 + Nonsense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:25146715A>T uc003grg.2 - 7 1058 c.845T>A c.(844-846)TTG>TAG p.L282* SEPSECS_uc003gri.2_Nonsense_Mutation_p.L281*|SEPSECS_uc003grh.2_Nonsense_Mutation_p.L203* NM_153825 NP_722547 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) 282 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding 0 Breast(46;0.173) Pyridoxal Phosphate(DB00114) ATTTTTGTCCAAGCTCTGAAC 0.353 36 43 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38047524 38047524 + Silent SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:38047524A>G uc003gtb.2 + 10 1972 c.1629A>G c.(1627-1629)AAA>AAG p.K543K TBC1D1_uc011byd.1_Silent_p.K543K|TBC1D1_uc010ifd.2_Silent_p.K290K|TBC1D1_uc011byf.1_Silent_p.K414K NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 543 nucleus Rab GTPase activator activity ovary(1) 1 ACACCAGCAAAGTAAGCACAT 0.418 7 82 --- --- --- --- PASS POLR2B 5431 broad.mit.edu 37 4 57873010 57873010 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:57873010C>T uc003hcl.1 + 10 1289 c.1246C>T c.(1246-1248)CGG>TGG p.R416W POLR2B_uc011cae.1_Missense_Mutation_p.R409W|POLR2B_uc011caf.1_Missense_Mutation_p.R341W|POLR2B_uc003hcm.1_5'Flank NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 416 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) TAAAGAAGTGCGGATCTATGC 0.333 11 87 --- --- --- --- PASS AFP 174 broad.mit.edu 37 4 74306466 74306466 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:74306466C>G uc003hgz.1 + 4 465 c.418C>G c.(418-420)CAA>GAA p.Q140E AFP_uc003hha.1_Missense_Mutation_p.Q140E|AFP_uc011cbg.1_5'Flank NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 140 Albumin 1. 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) CCCACTTTTCCAAGTTCCAGA 0.448 Alpha-Fetoprotein_Hereditary_Persistence_of 9 19 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77661990 77661990 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:77661990C>G uc011cbx.1 + 5 3617 c.2664C>G c.(2662-2664)AGC>AGG p.S888R SHROOM3_uc011cbz.1_Missense_Mutation_p.S712R|SHROOM3_uc003hkf.1_Missense_Mutation_p.S763R|SHROOM3_uc003hkg.2_Missense_Mutation_p.S666R NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 888 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) TCCTCCGTAGCCAGAGCACCT 0.721 5 12 --- --- --- --- PASS PLAC8 51316 broad.mit.edu 37 4 84028998 84028998 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:84028998C>A uc003hoe.2 - 2 238 c.77G>T c.(76-78)TGG>TTG p.W26L PLAC8_uc011cco.1_Missense_Mutation_p.W26L|PLAC8_uc010ijy.2_Intron|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Missense_Mutation_p.W26L NM_001130716 NP_001124188 Q9NZF1 PLAC8_HUMAN placenta-specific 8 26 ovary(1) 1 Hepatocellular(203;0.114) GCCTGTCTGCCAGTTGGAGTT 0.552 15 48 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96761853 96761853 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:96761853C>T uc003htr.3 + 1 615 c.552C>T c.(550-552)AAC>AAT p.N184N NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 184 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) ATAAAGGAAACGATGAGATCT 0.483 6 55 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102992450 102992450 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:102992450A>G uc003hvy.3 + 14 2505 c.2231A>G c.(2230-2232)CAC>CGC p.H744R BANK1_uc003hvx.3_Missense_Mutation_p.H729R|BANK1_uc010ill.2_Missense_Mutation_p.H611R|BANK1_uc003hvz.3_Missense_Mutation_p.H714R NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 744 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) ACCATTGTGCACCATCCAGGT 0.294 48 95 --- --- --- --- PASS COL25A1 84570 broad.mit.edu 37 4 109895698 109895698 + Silent SNP T C C rs142155024 by1000genomes TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:109895698T>C uc003hze.1 - 6 987 c.456A>G c.(454-456)AAA>AAG p.K152K COL25A1_uc003hzg.2_Silent_p.K152K|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 152 Extracellular (Potential).|Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCTTATCGCCTTTTGGACCAG 0.318 3 84 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114274838 114274838 + Missense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:114274838G>C uc003ibe.3 + 38 5164 c.5064G>C c.(5062-5064)CAG>CAC p.Q1688H ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.Q1703H NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1655 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATGAGACACAGAGTACACAGA 0.433 9 31 --- --- --- --- PASS MFSD8 256471 broad.mit.edu 37 4 128851838 128851838 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:128851838T>A uc003ifp.2 - 10 1161 c.998A>T c.(997-999)AAG>ATG p.K333M MFSD8_uc011cgu.1_Missense_Mutation_p.K288M|MFSD8_uc011cgv.1_Missense_Mutation_p.K295I|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 333 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 CTTAACTTACTTTTTGGAAAG 0.313 15 93 --- --- --- --- PASS F11 2160 broad.mit.edu 37 4 187201392 187201392 + Nonsense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr4:187201392C>A uc003iza.1 + 9 1214 c.881C>A c.(880-882)TCA>TAA p.S294* NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 294 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TGCCATTCTTCATTTTACCAT 0.517 34 88 --- --- --- --- PASS AHRR 57491 broad.mit.edu 37 5 376726 376726 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr5:376726C>A uc003jav.2 + 4 302 c.258C>A c.(256-258)GTC>GTA p.V86V AHRR_uc003jaw.2_Silent_p.V82V|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Silent_p.V82V NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CTCTGACAGTCGTGCAGGAGC 0.622 8 8 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10410360 10410360 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr5:10410360G>T uc003jet.1 + 18 1846 c.1663G>T c.(1663-1665)GCG>TCG p.A555S MARCH6_uc011cmu.1_Missense_Mutation_p.A507S|MARCH6_uc003jeu.1_Missense_Mutation_p.A253S|MARCH6_uc011cmv.1_Missense_Mutation_p.A450S NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 555 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 GCTGGTGCGAGCGTGGACTGT 0.527 29 55 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82849313 82849313 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr5:82849313G>A uc003kii.3 + 11 9980 c.9624G>A c.(9622-9624)CTG>CTA p.L3208L VCAN_uc003kij.3_Silent_p.L2221L|VCAN_uc010jau.2_Silent_p.L1454L|VCAN_uc003kik.3_Silent_p.L467L|VCAN_uc003kil.3_Silent_p.L1872L NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3208 C-type lectin. 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) CAAGCATCCTGTCTCACGAAG 0.458 24 38 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140531822 140531822 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr5:140531822G>T uc003lir.2 + 1 1984 c.1984G>T c.(1984-1986)GAC>TAC p.D662Y PCDHB6_uc011dah.1_Missense_Mutation_p.D526Y NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 662 Cadherin 6.|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) GCTCCTGGTGGACGGCTTCTC 0.692 28 35 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169483700 169483700 + Silent SNP C A A rs141164963 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr5:169483700C>A uc003maf.2 + 43 4388 c.4308C>A c.(4306-4308)TCC>TCA p.S1436S DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.S928S|DOCK2_uc003mah.2_5'UTR NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1436 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTACAAATCCAACTACGTGC 0.557 10 9 --- --- --- --- PASS OR10C1 442194 broad.mit.edu 37 6 29407984 29407984 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr6:29407984C>A uc011dlp.1 + 1 192 c.192C>A c.(190-192)ACC>ACA p.T64T OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCTGCGCACCCTCTCGGCCT 0.577 16 42 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87969574 87969574 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr6:87969574A>T uc003plm.3 + 8 6268 c.6227A>T c.(6226-6228)CAA>CTA p.Q2076L NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2076 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ACAAACACACAAACCAAAGGA 0.358 7 13 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90354761 90354761 + Silent SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr6:90354761A>G uc003pnn.1 - 101 16691 c.16575T>C c.(16573-16575)TTT>TTC p.F5525F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5525 VWFA. 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) CCAATACAACAAAGATGACAA 0.473 18 32 --- --- --- --- PASS FUT9 10690 broad.mit.edu 37 6 96651407 96651407 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr6:96651407C>A uc003pop.3 + 3 717 c.376C>A c.(376-378)CCA>ACA p.P126T NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 126 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GCAAGCTAGGCCACCCTTCCA 0.463 7 19 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117246809 117246809 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr6:117246809C>A uc003pxm.2 + 16 1935 c.1872C>A c.(1870-1872)AAC>AAA p.N624K NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 624 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 ACACAGACAACATGCCGCTCA 0.512 18 20 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18788681 18788681 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:18788681A>T uc003suh.2 + 13 1995 c.1954A>T c.(1954-1956)ACC>TCC p.T652S HDAC9_uc003sue.2_Missense_Mutation_p.T652S|HDAC9_uc011jyd.1_Missense_Mutation_p.T652S|HDAC9_uc003sui.2_Missense_Mutation_p.T655S|HDAC9_uc003suj.2_Missense_Mutation_p.T611S|HDAC9_uc003sua.1_Missense_Mutation_p.T630S|HDAC9_uc010kue.1_Missense_Mutation_p.T307S NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 652 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGGCAATTCCACCACCCACCC 0.453 7 14 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82763820 82763820 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:82763820G>A uc003uhx.2 - 3 3335 c.3046C>T c.(3046-3048)CCA>TCA p.P1016S PCLO_uc003uhv.2_Missense_Mutation_p.P1016S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 962 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTACTGTTGGAGCTTGTTCA 0.428 7 43 --- --- --- --- PASS TFPI2 7980 broad.mit.edu 37 7 93516731 93516731 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:93516731C>T uc003umy.1 - 4 548 c.473G>A c.(472-474)TGC>TAC p.C158Y GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Intron|TFPI2_uc003una.1_Missense_Mutation_p.C147Y|TFPI2_uc003unb.1_Missense_Mutation_p.C164Y|TFPI2_uc010lfg.1_Missense_Mutation_p.C34Y NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 158 BPTI/Kunitz inhibitor 3. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TGGACTGTAGCAAAATGATGG 0.328 16 61 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100389747 100389747 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:100389747G>T uc003uwj.2 + 42 7854 c.7689G>T c.(7687-7689)ACG>ACT p.T2563T ZAN_uc003uwk.2_Silent_p.T2563T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R556L NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2563 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GTCACCAGACGGTGGCCCCAG 0.652 8 29 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100552594 100552594 + RNA SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:100552594A>G uc003uxk.1 + 1 c.1845A>G uc003uxl.1_Missense_Mutation_p.S349G Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. CATGAAACCAAGCAGTAGCCT 0.572 4 190 --- --- --- --- PASS MOGAT3 346606 broad.mit.edu 37 7 100841914 100841914 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:100841914C>G uc003uyc.2 - 4 653 c.486G>C c.(484-486)ATG>ATC p.M162I MOGAT3_uc010lhr.2_Missense_Mutation_p.M162I NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 162 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) CACCAAAGGACATGATGTAGT 0.627 5 53 --- --- --- --- PASS MLL5 55904 broad.mit.edu 37 7 104702725 104702725 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:104702725G>T uc003vcm.2 + 4 720 c.186G>T c.(184-186)GCG>GCT p.A62A MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Silent_p.A62A|MLL5_uc003vcl.2_Silent_p.A62A|MLL5_uc010ljc.2_Silent_p.A62A NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 62 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 TGCCCTATGCGGTAAGTGTTA 0.383 30 180 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113519831 113519831 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:113519831T>C uc010ljy.1 - 4 1347 c.1316A>G c.(1315-1317)GAT>GGT p.D439G NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 439 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 AGCATTATCATCCAGGACTTC 0.413 31 143 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915140 119915140 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:119915140G>T uc003vjj.1 + 1 1419 c.454G>T c.(454-456)GCG>TCG p.A152S 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) GCAGGACGACGCGGATACCGA 0.627 32 60 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657604 143657604 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr7:143657604C>A uc003wds.1 + 1 585 c.541C>A c.(541-543)CTC>ATC p.L181I NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) ATCCTGTGAACTCCTAGCTGT 0.502 24 33 --- --- --- --- PASS BLK 640 broad.mit.edu 37 8 11420487 11420487 + Splice_Site SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:11420487G>A uc003wty.2 + 12 1762 c.1181_splice c.e12-1 p.G394_splice BLK_uc003wtz.2_Splice_Site_p.G323_splice|BLK_uc003wua.2_Splice_Site_p.G230_splice NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TTTTCCCACAGGGGCCAAGTT 0.612 7 19 --- --- --- --- PASS C8orf79 57604 broad.mit.edu 37 8 12878990 12878990 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:12878990G>A uc010lsq.2 + 5 1294 c.802G>A c.(802-804)GTA>ATA p.V268I C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.V181I|C8orf79_uc010lsr.2_Missense_Mutation_p.V142I NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 268 methyltransferase activity 0 AATTGAAAGAGTAAGACCCTT 0.413 8 24 --- --- --- --- PASS ADAM32 203102 broad.mit.edu 37 8 39111935 39111935 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:39111935G>T uc003xmt.3 + 18 2150 c.1905G>T c.(1903-1905)GTG>GTT p.V635V ADAM32_uc011lch.1_Silent_p.V536V|ADAM32_uc003xmu.3_Silent_p.V529V|ADAM32_uc003xmv.2_Silent_p.V59V NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 635 EGF-like.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GATCCTAGGTGTGTGATTCCA 0.353 3 11 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41530104 41530104 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:41530104C>T uc003xok.2 - 38 4948 c.4864G>A c.(4864-4866)GAG>AAG p.E1622K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E1622K|ANK1_uc003xoj.2_Missense_Mutation_p.E1622K|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.E1663K NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1622 55 kDa regulatory 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) GTGTCGTCCTCCACAAGTTCC 0.557 23 152 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43157126 43157126 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:43157126A>G uc003xpz.1 + 5 749 c.706A>G c.(706-708)ATA>GTA p.I236V POTEA_uc003xqa.1_Intron NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 236 ANK 5. ovary(1) 1 AACTGCCCTCATACTTGCTGT 0.323 41 66 --- --- --- --- PASS TGS1 96764 broad.mit.edu 37 8 56699527 56699527 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:56699527G>T uc003xsj.3 + 4 1457 c.1070G>T c.(1069-1071)TGC>TTC p.C357F TGS1_uc010lyh.2_Missense_Mutation_p.C261F NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 357 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) AAAAGAGAGTGCCCTGCTTCC 0.443 21 30 --- --- --- --- PASS LACTB2 51110 broad.mit.edu 37 8 71553256 71553256 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:71553256C>G uc011lfd.1 - 5 714 c.622G>C c.(622-624)GCT>CCT p.A208P LACTB2_uc003xyp.2_Missense_Mutation_p.A208P NM_016027 NP_057111 Q53H82 LACB2_HUMAN lactamase, beta 2 208 hydrolase activity|metal ion binding ovary(1) 1 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGAATTTTAGCTTCAGCATTA 0.308 15 41 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766728 77766728 + Missense_Mutation SNP T G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:77766728T>G uc003yav.2 + 10 7823 c.7436T>G c.(7435-7437)CTT>CGT p.L2479R ZFHX4_uc003yau.1_Missense_Mutation_p.L2524R|ZFHX4_uc003yaw.1_Missense_Mutation_p.L2479R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2479 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACCAATTCCTTCACTCTCCG 0.498 HNSCC(33;0.089) 13 123 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139165236 139165236 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:139165236C>T uc003yuy.2 - 13 1653 c.1482G>A c.(1480-1482)ATG>ATA p.M494I FAM135B_uc003yux.2_Missense_Mutation_p.M395I|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.M56I|FAM135B_uc003yvb.2_Missense_Mutation_p.M56I NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 494 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATTCAGAGCACATGTCCATAT 0.418 HNSCC(54;0.14) 40 62 --- --- --- --- PASS RHPN1 114822 broad.mit.edu 37 8 144463805 144463805 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr8:144463805C>A uc003yyb.2 + 13 1685 c.1552C>A c.(1552-1554)CGA>AGA p.R518R NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 543 PDZ. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CCACCTGACCCGAGGAGAGGG 0.711 3 25 --- --- --- --- PASS TMEM2 23670 broad.mit.edu 37 9 74305159 74305159 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr9:74305159T>C uc011lsa.1 - 22 4240 c.3700A>G c.(3700-3702)AAT>GAT p.N1234D TMEM2_uc011lrz.1_Missense_Mutation_p.N227D|TMEM2_uc010mos.2_Missense_Mutation_p.N1171D|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.N68D NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1234 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCAGTGCCATTGACCTGAGAA 0.478 14 17 --- --- --- --- PASS SLC2A6 11182 broad.mit.edu 37 9 136338230 136338230 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr9:136338230C>A uc004cee.2 - 9 1460 c.1365G>T c.(1363-1365)GTG>GTT p.V455V SLC2A6_uc004cef.2_Silent_p.V393V|SLC2A6_uc004ceg.2_Silent_p.V432V NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 455 Helical; Name=11; (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CACTCACCACCACTGGCAGGA 0.682 3 16 --- --- --- --- PASS FCN1 2219 broad.mit.edu 37 9 137808229 137808229 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr9:137808229C>T uc004cfi.2 - 2 274 c.182G>A c.(181-183)GGG>GAG p.G61E NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 61 Collagen-like. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TCCCTTTGGCCCTGGGGCCCC 0.652 57 100 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7205784 7205784 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:7205784C>G uc009xio.1 - 21 2724 c.2633G>C c.(2632-2634)TGC>TCC p.C878S SFMBT2_uc001ijn.1_Missense_Mutation_p.C878S|SFMBT2_uc010qay.1_Missense_Mutation_p.C713S NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 878 SAM. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GATCTGGTGGCATAACTTGAT 0.567 5 26 --- --- --- --- PASS ITGB1 3688 broad.mit.edu 37 10 33197297 33197297 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:33197297G>A uc001iws.3 - 15 2466 c.2330C>T c.(2329-2331)ACG>ATG p.T777M ITGB1_uc001iwp.3_Missense_Mutation_p.T777M|ITGB1_uc001iwq.3_Missense_Mutation_p.T777M|ITGB1_uc001iwr.3_Missense_Mutation_p.T777M|ITGB1_uc001iwt.3_Missense_Mutation_p.T777M|ITGB1_uc001iwu.1_Missense_Mutation_p.T777M NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 777 Cytoplasmic (Potential). axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) GTAACTTACCGTGTCCCATTT 0.348 26 62 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55566720 55566720 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:55566720G>T uc010qhq.1 - 36 5063 c.4668C>A c.(4666-4668)ACC>ACA p.T1556T PCDH15_uc010qhr.1_Silent_p.T1551T NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGGCACGGCGGGTTCTCACCA 0.478 HNSCC(58;0.16) 12 58 --- --- --- --- PASS IFIT1 3434 broad.mit.edu 37 10 91162119 91162119 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:91162119C>T uc001kgi.2 + 2 235 c.87C>T c.(85-87)GAC>GAT p.D29D LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Silent_p.D29D|IFIT1_uc001kgj.2_Translation_Start_Site NM_001548 NP_001539 P09914 IFIT1_HUMAN interferon-induced protein with 29 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding 0 CCATTGATGACGATGAAATGC 0.383 14 59 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96493185 96493185 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:96493185T>A uc010qny.1 + 6 950 c.92T>A c.(91-93)CTT>CAT p.L31H CYP2C18_uc001kjv.3_Silent_p.P427P|CYP2C18_uc001kjw.3_Silent_p.P368P|CYP2C19_uc009xus.1_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, Error:Variant_position_missing_in_P33261_after_alignment exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ACTTCATGCCTTTCTCAGCAG 0.433 27 44 --- --- --- --- PASS LZTS2 84445 broad.mit.edu 37 10 102763912 102763912 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:102763912A>T uc001ksj.2 + 3 1126 c.1057A>T c.(1057-1059)ACC>TCC p.T353S LZTS2_uc010qpw.1_Missense_Mutation_p.T353S|LZTS2_uc001ksk.2_Missense_Mutation_p.T353S|LZTS2_uc001ksl.2_Missense_Mutation_p.T353S|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 353 Potential. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GAATGAGGCTACCATGTGCCA 0.597 5 18 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124335935 124335935 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr10:124335935C>T uc001lgk.1 + 7 410 c.304C>T c.(304-306)CTG>TTG p.L102L DMBT1_uc001lgl.1_Silent_p.L102L|DMBT1_uc001lgm.1_Silent_p.L102L|DMBT1_uc009xzz.1_Silent_p.L102L|DMBT1_uc010qtx.1_Silent_p.L102L|DMBT1_uc009yaa.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 102 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGTTTGGCCCTGAGGCTGGT 0.557 35 66 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068517 5068517 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:5068517C>A uc010qyv.1 + 1 762 c.762C>A c.(760-762)ATC>ATA p.I254I NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTTCTATATCCCTTCAGTCT 0.453 35 95 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068518 5068518 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:5068518C>A uc010qyv.1 + 1 763 c.763C>A c.(763-765)CCT>ACT p.P255T NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTCTATATCCCTTCAGTCTT 0.453 35 92 --- --- --- --- PASS OR52B6 340980 broad.mit.edu 37 11 5602557 5602557 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:5602557T>A uc010qzi.1 + 1 451 c.451T>A c.(451-453)TAT>AAT p.Y151N HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 151 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCCTGCGATATGTCACAAT 0.512 20 82 --- --- --- --- PASS TRIM22 10346 broad.mit.edu 37 11 5719584 5719584 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:5719584T>A uc001mbr.2 + 4 836 c.559T>A c.(559-561)TTC>ATC p.F187I TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.F155I|TRIM22_uc009yes.2_Missense_Mutation_p.F183I|TRIM22_uc010qzm.1_Intron|TRIM22_uc009yeu.2_5'UTR NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 187 Potential. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TCTGAAAGGGTTCAATGAAAT 0.463 3 26 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5968711 5968711 + Silent SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:5968711C>G uc010qzt.1 + 1 135 c.135C>G c.(133-135)GCC>GCG p.A45A NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCGTAGGGGCCAACACCACCC 0.597 25 64 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49175797 49175797 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:49175797G>T uc001ngy.2 - 16 2132 c.1871C>A c.(1870-1872)ACA>AAA p.T624K FOLH1_uc001ngx.2_Missense_Mutation_p.T56K|FOLH1_uc001ngz.2_Missense_Mutation_p.T624K|FOLH1_uc009yly.2_Missense_Mutation_p.T609K|FOLH1_uc009ylz.2_Missense_Mutation_p.T609K|FOLH1_uc009yma.2_Missense_Mutation_p.T316K NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 624 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACACTGTATGTCTTCATTTC 0.333 9 68 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419293 55419293 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:55419293T>A uc001nhs.1 + 1 914 c.914T>A c.(913-915)TTC>TAC p.F305Y NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AGAAATGTTTTCTTGGAGGCT 0.264 29 103 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432917 55432917 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:55432917T>C uc001nht.3 + 3 540 c.275T>C c.(274-276)CTC>CCC p.L92P OR4C6_uc010rik.1_Missense_Mutation_p.L92P NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ACCATCTCTCTCAAAGGCTGC 0.502 13 38 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432918 55432918 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:55432918C>A uc001nht.3 + 3 541 c.276C>A c.(274-276)CTC>CTA p.L92L OR4C6_uc010rik.1_Silent_p.L92L NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CCATCTCTCTCAAAGGCTGCC 0.502 13 37 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432933 55432933 + Silent SNP C A A rs77687368 byFrequency TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:55432933C>A uc001nht.3 + 3 556 c.291C>A c.(289-291)ACC>ACA p.T97T OR4C6_uc010rik.1_Silent_p.T97T NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GCTGCCTCACCCAGCTGTTTG 0.527 15 36 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681789 55681789 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:55681789C>G uc010rir.1 - 1 270 c.270G>C c.(268-270)AAG>AAC p.K90N NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGGGTATTGACTTGTTCTTGG 0.448 16 35 --- --- --- --- PASS OR8K3 219473 broad.mit.edu 37 11 56086487 56086487 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:56086487G>T uc010rjf.1 + 1 705 c.705G>T c.(703-705)AAG>AAT p.K235N NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GCAGACAAAAGGCTTTTTCTA 0.433 16 38 --- --- --- --- PASS OR8K1 390157 broad.mit.edu 37 11 56113662 56113662 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:56113662G>T uc010rjg.1 + 1 148 c.148G>T c.(148-150)GGC>TGC p.G50C NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGGCAATCTGGGCATGGTTAT 0.448 HNSCC(65;0.19) 10 68 --- --- --- --- PASS TMEM132A 54972 broad.mit.edu 37 11 60696322 60696322 + Silent SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:60696322G>T uc001nqj.2 + 4 949 c.756G>T c.(754-756)CTG>CTT p.L252L TMEM132A_uc001nqi.2_Silent_p.L252L|TMEM132A_uc001nqk.2_Silent_p.L265L|TMEM132A_uc001nql.1_Silent_p.L265L NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 252 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 AGGTACCTCTGGACGAGGCTG 0.677 9 24 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62298384 62298384 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:62298384C>A uc001ntl.2 - 5 3805 c.3505G>T c.(3505-3507)GTG>TTG p.V1169L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1169 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCGAGGCTCACATCTGGGGCT 0.542 30 143 --- --- --- --- PASS CFL1 1072 broad.mit.edu 37 11 65623490 65623490 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:65623490G>A uc001ofs.2 - 2 461 c.227C>T c.(226-228)CCA>CTA p.P76L CFL1_uc001oft.2_Missense_Mutation_p.P76L|CFL1_uc001ofu.2_3'UTR NM_005507 NP_005498 P23528 COF1_HUMAN cofilin 1 (non-muscle) 76 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding 0 READ - Rectum adenocarcinoma(159;0.169) GTCCTTATCTGGCAGCATCTT 0.537 12 92 --- --- --- --- PASS RSF1 51773 broad.mit.edu 37 11 77412453 77412453 + Silent SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:77412453T>C uc001oyn.2 - 6 1941 c.1821A>G c.(1819-1821)CCA>CCG p.P607P RSF1_uc001oym.2_Silent_p.P355P NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 607 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GAACTTCTTCTGGTATTGGAC 0.423 49 76 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114441738 114441738 + Silent SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:114441738T>C uc001ppc.2 - 6 1738 c.1557A>G c.(1555-1557)GCA>GCG p.A519A FAM55D_uc001ppd.2_Silent_p.A235A NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 519 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TTGTGCCATATGCAATTGTTA 0.313 28 47 --- --- --- --- PASS ZNF202 7753 broad.mit.edu 37 11 123599838 123599838 + Nonsense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:123599838G>C uc001pzd.1 - 6 1098 c.698C>G c.(697-699)TCA>TGA p.S233* ZNF202_uc001pzc.1_Nonsense_Mutation_p.S9*|ZNF202_uc001pze.1_Nonsense_Mutation_p.S233*|ZNF202_uc001pzf.1_Nonsense_Mutation_p.S233* NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 233 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) GCACACCTGTGACAGAGCAGT 0.493 7 9 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440091 124440091 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr11:124440091C>A uc010san.1 + 1 127 c.127C>A c.(127-129)CCC>ACC p.P43T NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 43 Extracellular (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;0.0214) CCTCCAGCTCCCCCTCTTTCT 0.532 16 30 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 990939 990939 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:990939G>A uc001qio.3 + 13 3700 c.3193G>A c.(3193-3195)GCT>ACT p.A1065T WNK1_uc001qip.3_Missense_Mutation_p.A818T|WNK1_uc001qir.3_Missense_Mutation_p.A238T NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1065 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GACCACTTTGGCTTCCTCTGT 0.458 16 54 --- --- --- --- PASS GDF3 9573 broad.mit.edu 37 12 7848323 7848323 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:7848323A>G uc001qte.2 - 1 38 c.2T>C c.(1-3)ATG>ACG p.M1T NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 1 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GAAACGAAGCATGGCCTCTGG 0.478 3 15 --- --- --- --- PASS ANO6 196527 broad.mit.edu 37 12 45823018 45823018 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:45823018T>C uc001roo.2 + 20 2992 c.2657T>C c.(2656-2658)ATG>ACG p.M886T ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.M907T|ANO6_uc010slg.1_Missense_Mutation_p.M868T NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 886 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 CTCAAAGATATGACGAAAAAT 0.388 12 21 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46320550 46320550 + Silent SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:46320550T>C uc001rox.2 - 11 3221 c.2934A>G c.(2932-2934)CCA>CCG p.P978P SFRS2IP_uc001row.2_Silent_p.P663P|SFRS2IP_uc001roy.1_Silent_p.P1052P NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 978 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CATTTCCTCGTGGACATCTCC 0.388 49 127 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48249545 48249545 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:48249545C>A uc001rqm.2 - 8 905 c.623G>T c.(622-624)AGT>ATT p.S208I VDR_uc001rql.2_Missense_Mutation_p.S258I|VDR_uc001rqn.2_Missense_Mutation_p.S208I|VDR_uc010slq.1_Missense_Mutation_p.S176I NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 208 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ATCTTCTTCACTCAGATCCAG 0.532 10 29 --- --- --- --- PASS TFCP2 7024 broad.mit.edu 37 12 51504759 51504759 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:51504759C>A uc001rxw.2 - 5 924 c.465G>T c.(463-465)CCG>CCT p.P155P TFCP2_uc001rxv.1_Silent_p.P155P|TFCP2_uc009zlx.1_Silent_p.P155P|TFCP2_uc001rxx.2_Silent_p.P155P|TFCP2_uc009zly.1_Silent_p.P57P NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 155 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 CCACAGACATCGGGATATCTG 0.388 22 83 --- --- --- --- PASS EIF4B 1975 broad.mit.edu 37 12 53428431 53428431 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:53428431G>T uc001sbh.3 + 10 1450 c.1244G>T c.(1243-1245)CGG>CTG p.R415L EIF4B_uc010snu.1_Missense_Mutation_p.R415L|EIF4B_uc010snv.1_Missense_Mutation_p.R376L|EIF4B_uc001sbi.2_Missense_Mutation_p.R167L NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 415 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 ACTCAGGAACGGGAACGGTCG 0.507 8 49 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97137324 97137324 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:97137324T>C uc001tet.1 + 20 2717 c.2639T>C c.(2638-2640)ATG>ACG p.M880T NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 880 skin(6)|ovary(1) 7 GCAGACATCATGACAAACCTT 0.423 6 30 --- --- --- --- PASS OAS3 4940 broad.mit.edu 37 12 113388514 113388514 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:113388514G>A uc001tug.2 + 7 1478 c.1391G>A c.(1390-1392)CGG>CAG p.R464Q NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 464 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 TCATTTGGCCGGGGCACAGAC 0.592 9 113 --- --- --- --- PASS ABCB9 23457 broad.mit.edu 37 12 123419863 123419863 + Missense_Mutation SNP T C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:123419863T>C uc001udm.3 - 10 2169 c.1859A>G c.(1858-1860)AAT>AGT p.N620S ABCB9_uc010tai.1_Missense_Mutation_p.N227S|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.N577S|ABCB9_uc010taj.1_Missense_Mutation_p.N557S|ABCB9_uc001udp.2_Missense_Mutation_p.N620S|ABCB9_uc001udq.2_Missense_Mutation_p.N339S NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 620 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GCCGTGGGCATTGGCCTTCTG 0.637 5 21 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126004126 126004126 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:126004126C>A uc001uhe.1 + 4 1241 c.1233C>A c.(1231-1233)ATC>ATA p.I411I NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 411 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCTCCGAGATCTTCGTCAGCC 0.517 4 52 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130922965 130922965 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr12:130922965C>A uc001uil.2 - 9 1714 c.1550G>T c.(1549-1551)GGG>GTG p.G517V RIMBP2_uc001uim.2_Missense_Mutation_p.G425V|RIMBP2_uc001uin.1_Missense_Mutation_p.G176V NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 517 Fibronectin type-III 3. 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) ATTGGACAGCCCGGTGGGCGT 0.637 6 17 --- --- --- --- PASS MTMR6 9107 broad.mit.edu 37 13 25841966 25841966 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr13:25841966T>A uc001uqf.3 - 3 574 c.255A>T c.(253-255)GAA>GAT p.E85D MTMR6_uc001uqe.1_Missense_Mutation_p.E85D NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 85 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GGCAATCTCTTTCTCTGGGAA 0.393 9 44 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84453702 84453702 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr13:84453702C>A uc001vlk.2 - 1 2827 c.1941G>T c.(1939-1941)AAG>AAT p.K647N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 647 Cytoplasmic (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCTTGGACCGCTTTCGGTTCC 0.567 9 16 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109707450 109707450 + Silent SNP A G G rs143387670 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr13:109707450A>G uc001vqt.1 + 26 3165 c.3039A>G c.(3037-3039)CCA>CCG p.P1013P MYO16_uc010agk.1_Silent_p.P1035P|MYO16_uc001vqu.1_Silent_p.P813P|MYO16_uc010tjh.1_Silent_p.P525P NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1013 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GAGGAGATCCAGTCACCATAG 0.328 15 20 --- --- --- --- PASS C14orf93 60686 broad.mit.edu 37 14 23465159 23465159 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:23465159A>G uc001wib.1 - 3 1226 c.916T>C c.(916-918)TCT>CCT p.S306P C14orf93_uc001wic.1_Missense_Mutation_p.S126P|C14orf93_uc001wid.1_Missense_Mutation_p.S306P|C14orf93_uc001wig.2_Missense_Mutation_p.S306P|C14orf93_uc001wih.2_Missense_Mutation_p.S306P|C14orf93_uc001wie.2_Missense_Mutation_p.S306P|C14orf93_uc001wia.3_Missense_Mutation_p.S306P|C14orf93_uc001wif.2_Missense_Mutation_p.S126P NM_021944 NP_068763 Q9H972 CN093_HUMAN hypothetical protein LOC60686 precursor 306 extracellular region ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) TCACTCACAGAGAGTACAAGA 0.493 5 80 --- --- --- --- PASS CEBPE 1053 broad.mit.edu 37 14 23588252 23588252 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:23588252G>A uc001wiv.1 - 1 223 c.49C>T c.(49-51)CCA>TCA p.P17S NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 17 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) AACTCGAGTGGCTGCTGGCCA 0.692 3 29 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356142 42356142 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:42356142A>G uc001wvm.2 + 3 1512 c.314A>G c.(313-315)CAT>CGT p.H105R LRFN5_uc010ana.2_Missense_Mutation_p.H105R NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 105 Extracellular (Potential).|LRR 3. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AGGGCTTTGCATTTGAATAGC 0.368 HNSCC(30;0.082) 18 59 --- --- --- --- PASS C14orf135 64430 broad.mit.edu 37 14 60582115 60582115 + Silent SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:60582115A>G uc001xer.3 + 3 1113 c.591A>G c.(589-591)GTA>GTG p.V197V C14orf135_uc001xeq.2_Silent_p.V197V|C14orf135_uc010apm.2_5'Flank NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 431 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) CTGTGACTGTATTCTTTGAGA 0.343 39 118 --- --- --- --- PASS ALDH6A1 4329 broad.mit.edu 37 14 74538983 74538983 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:74538983G>T uc001xpo.2 - 4 370 c.271C>A c.(271-273)CCT>ACT p.P91T C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Missense_Mutation_p.P91T NM_005589 NP_005580 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6A1 precursor 91 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) GCCCATGCAGGAAAAGCACGT 0.463 14 28 --- --- --- --- PASS SERPINA3 12 broad.mit.edu 37 14 95081268 95081268 + Missense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:95081268G>C uc001ydp.2 + 2 569 c.490G>C c.(490-492)GAG>CAG p.E164Q SERPINA3_uc001ydo.3_Missense_Mutation_p.E189Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.E164Q|SERPINA3_uc001yds.2_Missense_Mutation_p.E164Q|SERPINA3_uc010avg.2_Missense_Mutation_p.E164Q NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 164 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GTATGGCTCCGAGGCCTTTGC 0.502 9 42 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95562709 95562709 + Missense_Mutation SNP T A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:95562709T>A uc001ydw.2 - 24 4730 c.4548A>T c.(4546-4548)AAA>AAT p.K1516N DICER1_uc010avh.1_Missense_Mutation_p.K414N|DICER1_uc001ydv.2_Missense_Mutation_p.K1506N|DICER1_uc001ydx.2_Missense_Mutation_p.K1516N|DICER1_uc001ydy.1_Missense_Mutation_p.K368N NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1516 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTTCAACAGCTTTGCTAGGAT 0.433 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 32 64 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105415577 105415577 + Missense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr14:105415577G>C uc010axc.1 - 7 6331 c.6211C>G c.(6211-6213)CTG>GTG p.L2071V AHNAK2_uc001ypx.2_Missense_Mutation_p.L1971V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2071 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) ACCTTGGGCAGGTGCCCTTTG 0.617 77 42 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31330029 31330029 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr15:31330029G>T uc001zfm.2 - 19 2518 c.2390C>A c.(2389-2391)GCT>GAT p.A797D TRPM1_uc010azy.2_Missense_Mutation_p.A704D|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 797 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCTTGAGCCAGCATCTGCATT 0.478 8 20 --- --- --- --- PASS UACA 55075 broad.mit.edu 37 15 70960257 70960257 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr15:70960257G>A uc002asr.2 - 16 2870 c.2766C>T c.(2764-2766)TAC>TAT p.Y922Y UACA_uc010uke.1_Silent_p.Y813Y|UACA_uc002asq.2_Silent_p.Y909Y|UACA_uc010bin.1_Silent_p.Y897Y NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 922 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 CCAGGCTGATGTACTCAGCTT 0.363 13 41 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79356805 79356805 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr15:79356805C>A uc002beq.2 - 2 715 c.340G>T c.(340-342)GCA>TCA p.A114S RASGRF1_uc002bep.2_Missense_Mutation_p.A114S|RASGRF1_uc010blm.1_Missense_Mutation_p.A36S|RASGRF1_uc002ber.3_Missense_Mutation_p.A114S NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 114 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CAATCTTTTGCGTCCTCTGTC 0.512 27 123 --- --- --- --- PASS PRC1 9055 broad.mit.edu 37 15 91513658 91513658 + Silent SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr15:91513658A>T uc002bqm.2 - 12 1705 c.1548T>A c.(1546-1548)TCT>TCA p.S516S PRC1_uc002bqn.2_Silent_p.S516S|PRC1_uc002bqo.2_Silent_p.S516S|PRC1_uc010uqs.1_Silent_p.S475S NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 516 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) GAGGAAGTCGAGACACGGGGG 0.542 28 106 --- --- --- --- PASS ABAT 18 broad.mit.edu 37 16 8829667 8829667 + Splice_Site SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:8829667G>T uc002czc.3 + 2 236 c.70_splice c.e2+1 p.G24_splice ABAT_uc002czd.3_Splice_Site_p.G24_splice|ABAT_uc010buh.2_Splice_Site|ABAT_uc010bui.2_Splice_Site_p.G24_splice NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTGGTGCCTGGTAAGCCCCGG 0.597 4 11 --- --- --- --- PASS CPPED1 55313 broad.mit.edu 37 16 12758835 12758835 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:12758835C>T uc002dca.3 - 4 964 c.853G>A c.(853-855)GCC>ACC p.A285T CPPED1_uc002dcb.3_Missense_Mutation_p.A143T|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 285 hydrolase activity|metal ion binding 0 ATTTTCTCGGCGGTGACCACC 0.522 9 57 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21082070 21082070 + Silent SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:21082070A>G uc010vbe.1 - 22 3162 c.3162T>C c.(3160-3162)TGT>TGC p.C1054C NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1054 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ATGGGGAGCCACACATGGTCT 0.433 14 72 --- --- --- --- PASS TNRC6A 27327 broad.mit.edu 37 16 24788444 24788444 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:24788444G>T uc002dmm.2 + 5 468 c.354G>T c.(352-354)CAG>CAT p.Q118H TNRC6A_uc010bxs.2_5'UTR NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 118 Gln-rich. 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) cgcagccgcagcagcagcagc 0.254 9 24 --- --- --- --- PASS NOB1 28987 broad.mit.edu 37 16 69782934 69782934 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:69782934C>A uc002exs.2 - 6 629 c.613G>T c.(613-615)GGG>TGG p.G205W NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 205 nucleus metal ion binding|protein binding 0 CAGCCACCCCCGTCGTCATCG 0.552 10 18 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75263738 75263738 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:75263738C>A uc002fdv.2 - 7 2407 c.2284G>T c.(2284-2286)GTG>TTG p.V762L BCAR1_uc002fdt.2_Missense_Mutation_p.V215L|BCAR1_uc002fdu.2_Missense_Mutation_p.V552L|BCAR1_uc010cgu.2_Missense_Mutation_p.V751L|BCAR1_uc010vna.1_Missense_Mutation_p.V760L|BCAR1_uc010vnb.1_Missense_Mutation_p.V808L|BCAR1_uc002fdw.2_Missense_Mutation_p.V762L|BCAR1_uc010vnc.1_Missense_Mutation_p.V614L|BCAR1_uc010vnd.1_Missense_Mutation_p.V780L|BCAR1_uc002fdx.2_Missense_Mutation_p.V780L NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 762 Divergent helix-loop-helix motif. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) AAGGCGTCCACGGCGTTGGTC 0.647 16 46 --- --- --- --- PASS CLEC3A 10143 broad.mit.edu 37 16 78064380 78064380 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:78064380A>T uc002ffh.3 + 3 317 c.236A>T c.(235-237)TAC>TTC p.Y79F NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 79 C-type lectin. skeletal system development extracellular region sugar binding 0 AAGAAATGCTACCTTGCTTCA 0.433 9 68 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 16 88620366 88620366 + Silent SNP G A A rs149492586 byFrequency TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:88620366G>A uc010vox.1 - 2 264 c.264C>T c.(262-264)GTC>GTT p.V88V RecName: Full=Putative uncharacterized protein C16orf85; AGCTGGGACGGACGCCCGCAG 0.662 7 52 --- --- --- --- PASS TCF25 22980 broad.mit.edu 37 16 89950999 89950999 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:89950999A>G uc002fpb.2 + 3 446 c.364A>G c.(364-366)AGT>GGT p.S122G TCF25_uc002fpc.2_5'UTR NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 122 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) GTCTCATGCAAGTGGCAAACT 0.438 5 9 --- --- --- --- PASS ZNF594 84622 broad.mit.edu 37 17 5086085 5086085 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:5086085C>A uc010cla.1 - 2 1623 c.1467G>T c.(1465-1467)CAG>CAT p.Q489H NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 489 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 ATTCAGTGCACTGATAGGGCT 0.458 21 29 --- --- --- --- PASS ACAP1 9744 broad.mit.edu 37 17 7253320 7253320 + Silent SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:7253320G>C uc002ggd.2 + 19 2114 c.1908G>C c.(1906-1908)GCG>GCC p.A636A KCTD11_uc002gge.3_5'Flank NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 636 Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 TGAACCAAGCGGACAGTGCGG 0.622 11 99 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C A A rs121912660 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:7577099C>A uc002gim.2 - 8 1033 c.839G>T c.(838-840)AGA>ATA p.R280I TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148I|TP53_uc010cng.1_Missense_Mutation_p.R148I|TP53_uc002gii.1_Missense_Mutation_p.R148I|TP53_uc010cnh.1_Missense_Mutation_p.R280I|TP53_uc010cni.1_Missense_Mutation_p.R280I|TP53_uc002gij.2_Missense_Mutation_p.R280I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 20 --- --- --- --- PASS LIMD2 80774 broad.mit.edu 37 17 61776255 61776255 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:61776255C>T uc002jbj.3 - 4 306 c.128G>A c.(127-129)TGC>TAC p.C43Y LIMD2_uc002jbk.3_Silent_p.L44L|LIMD2_uc002jbl.3_Missense_Mutation_p.C43Y NM_030576 NP_085053 Q9BT23 LIMD2_HUMAN LIM domain containing 2 43 LIM zinc-binding. zinc ion binding 0 GGTCTTCTGGCAGGCGGCGCA 0.632 19 64 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62018275 62018275 + Silent SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:62018275C>A uc002jds.1 - 24 5444 c.5367G>T c.(5365-5367)TCG>TCT p.S1789S NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1789 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CCGGGCTTGGCGAGCTGCTGT 0.667 19 41 --- --- --- --- PASS LRRC37A3 374819 broad.mit.edu 37 17 62856410 62856410 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:62856410G>A uc002jey.2 - 11 4385 c.3854C>T c.(3853-3855)GCA>GTA p.A1285V LRRC37A3_uc010wqg.1_Missense_Mutation_p.A403V|LRRC37A3_uc002jex.1_Missense_Mutation_p.A262V|LRRC37A3_uc010wqf.1_Missense_Mutation_p.A323V|LRRC37A3_uc010dek.1_Missense_Mutation_p.A291V NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1285 Extracellular (Potential). integral to membrane 0 TCTAGCCTTTGCACTTTCTAA 0.463 12 184 --- --- --- --- PASS SLC16A6 9120 broad.mit.edu 37 17 66267094 66267094 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:66267094G>T uc002jgz.1 - 5 1395 c.1207C>A c.(1207-1209)CAC>AAC p.H403N ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.H403N NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 403 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) AGTGGAATGTGAGTCCCTCCT 0.463 32 50 --- --- --- --- PASS DNAI2 64446 broad.mit.edu 37 17 72305467 72305467 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:72305467C>T uc002jkf.2 + 10 1386 c.1287C>T c.(1285-1287)GAC>GAT p.D429D DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_Missense_Mutation_p.V90I|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 429 WD 5. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CCAGGATGGACGGAACCCTGG 0.577 Kartagener_syndrome 4 34 --- --- --- --- PASS LLGL2 3993 broad.mit.edu 37 17 73569291 73569291 + Missense_Mutation SNP G A A rs139000321 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:73569291G>A uc002joh.2 + 20 2811 c.2657G>A c.(2656-2658)CGC>CAC p.R886H LLGL2_uc002joi.2_Missense_Mutation_p.R886H|LLGL2_uc010dgg.1_Missense_Mutation_p.R886H|LLGL2_uc002joj.2_Missense_Mutation_p.R875H|LLGL2_uc010wsd.1_Missense_Mutation_p.R513H NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 886 WD 13. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCCCAGGTGCGCTACAGCTGC 0.652 32 81 --- --- --- --- PASS CBX4 8535 broad.mit.edu 37 17 77808067 77808067 + Silent SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr17:77808067C>G uc002jxe.2 - 5 1537 c.1374G>C c.(1372-1374)CCG>CCC p.P458P NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 458 Interaction with BMI1. P -> R (in Ref. 1; AAB80718 and 4; AAB62734). anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCTCGGGCTGCGGGAGGGCGG 0.716 4 18 --- --- --- --- PASS FAM59A 64762 broad.mit.edu 37 18 29848010 29848010 + Missense_Mutation SNP A C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr18:29848010A>C uc002kxl.2 - 6 2511 c.2455T>G c.(2455-2457)TCA>GCA p.S819A FAM59A_uc002kxk.1_Missense_Mutation_p.S818A NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 819 SAM. ovary(1)|skin(1) 2 AACCGTAGTGACTTGGACACT 0.502 42 34 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44560338 44560338 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr18:44560338A>T uc002lcr.1 - 1 1651 c.1298T>A c.(1297-1299)GTC>GAC p.V433D KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 433 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GCTTTCCTGGACAGGAGGCAA 0.567 171 76 --- --- --- --- PASS MBD1 4152 broad.mit.edu 37 18 47801500 47801500 + Missense_Mutation SNP G A A rs115426299 by1000genomes TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr18:47801500G>A uc010dow.1 - 9 1345 c.908C>T c.(907-909)CCG>CTG p.P303L MBD1_uc002lef.2_Missense_Mutation_p.P110L|MBD1_uc002leg.2_Missense_Mutation_p.P254L|MBD1_uc010xdi.1_Missense_Mutation_p.P354L|MBD1_uc002leh.3_Missense_Mutation_p.P303L|MBD1_uc002len.2_Missense_Mutation_p.P303L|MBD1_uc002lei.3_Missense_Mutation_p.P303L|MBD1_uc002lej.3_Missense_Mutation_p.P303L|MBD1_uc002lek.3_Missense_Mutation_p.P254L|MBD1_uc002lel.3_Missense_Mutation_p.P303L|MBD1_uc002lem.3_Missense_Mutation_p.P303L|MBD1_uc010xdj.1_Missense_Mutation_p.P303L|MBD1_uc010xdk.1_Missense_Mutation_p.P328L|MBD1_uc010dox.1_Missense_Mutation_p.P303L|MBD1_uc002leo.2_Missense_Mutation_p.P303L NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 303 Pro-rich. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGGCCTCACCGGCTCTGTGGG 0.677 13 42 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55027340 55027340 + Silent SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr18:55027340A>G uc002lgn.2 + 4 1332 c.975A>G c.(973-975)GGA>GGG p.G325G NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 325 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GGCCGTTTGGATTTGACCCCA 0.448 15 45 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9073731 9073731 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:9073731G>T uc002mkp.2 - 3 13919 c.13715C>A c.(13714-13716)TCC>TAC p.S4572Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4574 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 CCCCATGCTGGAGGCAGGAAC 0.522 12 20 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9083825 9083825 + Missense_Mutation SNP A C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:9083825A>C uc002mkp.2 - 1 8194 c.7990T>G c.(7990-7992)TCC>GCC p.S2664A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2664 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 GAATCAAAGGATGTAGCTAAT 0.517 11 14 --- --- --- --- PASS MAP1S 55201 broad.mit.edu 37 19 17835910 17835910 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:17835910G>T uc002nhe.1 + 4 365 c.356G>T c.(355-357)GGG>GTG p.G119V MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.G119V|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.G93V NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 119 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GTGTTGGCTGGGCCCTGCCTG 0.612 25 48 --- --- --- --- PASS CRTC1 23373 broad.mit.edu 37 19 18876308 18876308 + Silent SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:18876308C>G uc002nkb.3 + 9 1069 c.981C>G c.(979-981)CCC>CCG p.P327P CRTC1_uc010ebv.2_Silent_p.P343P|CRTC1_uc010ebw.2_Silent_p.P192P|CRTC1_uc002nkc.3_Silent_p.P192P NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 327 Ser-rich. interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 AGGCATCGCCCACCCTGTCCC 0.657 9 130 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155467 22155467 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:22155467G>T uc002nqp.2 - 5 2218 c.2069C>A c.(2068-2070)GCA>GAA p.A690E 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) AATAAGGATTGCAGATCGGTT 0.363 20 51 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22271749 22271749 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:22271749C>T uc010ecx.2 + 4 1366 c.1197C>T c.(1195-1197)GCC>GCT p.A399A ZNF257_uc010ecy.2_Silent_p.A367A NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GAGAGAAGGCCTACAAATGTG 0.373 6 31 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24309770 24309770 + Missense_Mutation SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:24309770A>T uc002nru.2 + 4 1102 c.968A>T c.(967-969)AAG>ATG p.K323M ZNF254_uc010xrk.1_Missense_Mutation_p.K238M NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 323 C2H2-type 5. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AAACCCTACAAGTGTGAAGAA 0.403 29 44 --- --- --- --- PASS FFAR2 2867 broad.mit.edu 37 19 35941175 35941175 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:35941175C>A uc002nzg.2 + 2 639 c.559C>A c.(559-561)CTC>ATC p.L187I FFAR2_uc010eea.2_Missense_Mutation_p.L187I NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 187 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTGCCTGGTGCTCTTCTTCAT 0.587 6 113 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36213498 36213498 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:36213498G>A uc010eei.2 + 5 2600 c.2600G>A c.(2599-2601)CGC>CAC p.R867H NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 867 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) CAAGGTCCCCGCATCAAACAT 0.657 3 9 --- --- --- --- PASS ZNF568 374900 broad.mit.edu 37 19 37427735 37427735 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:37427735G>A uc002ofc.2 + 5 738 c.223G>A c.(223-225)GAT>AAT p.D75N ZNF568_uc010efg.2_Missense_Mutation_p.D61N|ZNF568_uc010xtn.1_5'UTR|ZNF568_uc002ofd.2_5'UTR|ZNF568_uc010efe.2_5'UTR|ZNF568_uc010eff.1_Missense_Mutation_p.D61N NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTGTATCGAGATGTGATGCT 0.423 4 57 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39063910 39063910 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:39063910G>T uc002oit.2 + 96 14222 c.14092G>T c.(14092-14094)GTG>TTG p.V4698L RYR1_uc002oiu.2_Missense_Mutation_p.V4693L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4698 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) GGACGATGACGTGAAGGGGCA 0.617 7 17 --- --- --- --- PASS ZNF235 9310 broad.mit.edu 37 19 44791606 44791606 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:44791606C>A uc002oza.3 - 5 2085 c.1982G>T c.(1981-1983)GGG>GTG p.G661V ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.G657V|ZNF235_uc010xwx.1_Missense_Mutation_p.G575V NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 661 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) GAATTCTTTCCCACATTCCTC 0.473 24 72 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45895260 45895260 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:45895260C>G uc002pbn.2 - 8 1770 c.1693G>C c.(1693-1695)GAG>CAG p.E565Q PPP1R13L_uc002pbm.2_Missense_Mutation_p.E144Q|PPP1R13L_uc002pbo.2_Missense_Mutation_p.E565Q NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 565 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGGGACAGCTCTGGCTCCGGC 0.697 21 41 --- --- --- --- PASS SNRPD2 6633 broad.mit.edu 37 19 46190942 46190942 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:46190942C>T uc002pcw.2 - 3 523 c.226G>A c.(226-228)GAG>AAG p.E76K SNRPD2_uc002pcv.2_Missense_Mutation_p.E66K NM_004597 NP_004588 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 isoform 1 76 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) TTGGGTACCTCAGTCCACATC 0.587 7 80 --- --- --- --- PASS MEIS3 56917 broad.mit.edu 37 19 47912500 47912500 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:47912500G>A uc002pgu.2 - 8 1161 c.714C>T c.(712-714)GAC>GAT p.D238D MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Silent_p.D37D|MEIS3_uc002pgp.2_Silent_p.D70D|MEIS3_uc002pgq.2_Silent_p.D319D|MEIS3_uc002pgr.2_Silent_p.D106D|MEIS3_uc002pgt.2_Silent_p.D221D|MEIS3_uc002pgv.2_Silent_p.D221D|MEIS3_uc002pgs.2_Silent_p.D238D|MEIS3_uc010eld.2_Silent_p.D238D NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 238 Ser/Thr-rich. D -> V (in Ref. 5). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TGTCCAGCCCGTCTCCTGAGG 0.607 5 8 --- --- --- --- PASS GLTSCR2 29997 broad.mit.edu 37 19 48254807 48254807 + Missense_Mutation SNP A C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:48254807A>C uc002phm.2 + 5 653 c.629A>C c.(628-630)GAT>GCT p.D210A GLTSCR2_uc002phk.2_Missense_Mutation_p.D210A|GLTSCR2_uc002phl.2_Missense_Mutation_p.D210A|GLTSCR2_uc010elj.2_Missense_Mutation_p.D210A|GLTSCR2_uc010elk.1_RNA NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 210 SDNPLDRPLVGQDEFFLE -> LNNPDKPVVWPGCLFPG (in Ref. 3; AAG30413). nucleolus central_nervous_system(1) 1 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) GTTGGCCAGGATGAGTTTTTC 0.607 7 16 --- --- --- --- PASS MIR935 100126325 broad.mit.edu 37 19 54485587 54485587 + RNA SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:54485587G>T hsa-mir-935|MI0005757 + c.27G>T CACNG8_uc002qcs.1_Silent_p.G253G 0 gcAGTGGCGGGAGCGGCCCCT 0.632 7 3 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55451047 55451047 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr19:55451047C>T uc002qih.3 - 4 1216 c.1140G>A c.(1138-1140)GGG>GGA p.G380G NLRP7_uc002qig.3_Silent_p.G380G|NLRP7_uc002qii.3_Silent_p.G380G|NLRP7_uc010esk.2_Silent_p.G380G|NLRP7_uc010esl.2_Silent_p.G408G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 380 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CCGGGTCCTCCCCCTTCTCCA 0.682 20 21 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20278858 20278858 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr20:20278858G>A uc002wru.2 + 25 3326 c.3250G>A c.(3250-3252)GGG>AGG p.G1084R C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1084 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TGCGAAAAATGGGACTTACTT 0.433 8 70 --- --- --- --- PASS GZF1 64412 broad.mit.edu 37 20 23346140 23346140 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr20:23346140G>A uc010gdb.2 + 3 1294 c.1120G>A c.(1120-1122)GAG>AAG p.E374K GZF1_uc002wsy.2_Missense_Mutation_p.E374K|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.E374K NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 374 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GCACAGCAGCGAGCGCCATTT 0.667 7 143 --- --- --- --- PASS HCK 3055 broad.mit.edu 37 20 30661123 30661123 + Missense_Mutation SNP G A A rs149121640 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr20:30661123G>A uc002wxh.2 + 3 356 c.185G>A c.(184-186)GGG>GAG p.G62E HCK_uc010gdy.2_Missense_Mutation_p.G41E|HCK_uc002wxi.2_Missense_Mutation_p.G41E NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 62 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCCCCACAGGGGCCTAATAGC 0.398 47 14 --- --- --- --- PASS DNMT3B 1789 broad.mit.edu 37 20 31393144 31393144 + Missense_Mutation SNP G T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr20:31393144G>T uc002wyc.2 + 21 2553 c.2232G>T c.(2230-2232)AGG>AGT p.R744S DNMT3B_uc002wyd.2_Missense_Mutation_p.R724S|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Missense_Mutation_p.R736S|DNMT3B_uc002wyg.2_Intron|DNMT3B_uc010geg.2_Missense_Mutation_p.R43S|DNMT3B_uc010geh.2_Intron NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 744 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 CTGTTCCCAGGCCCGTGATAG 0.498 24 34 --- --- --- --- PASS SLCO4A1 28231 broad.mit.edu 37 20 61300296 61300296 + Missense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr20:61300296C>A uc002ydb.1 + 11 2096 c.1891C>A c.(1891-1893)CCC>ACC p.P631T SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.P33T NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 631 Helical; Name=11; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CATCCCGGGGCCCATCGCCTT 0.652 OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 25 --- --- --- --- PASS KRTAP12-2 353323 broad.mit.edu 37 21 46086662 46086662 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr21:46086662C>T uc002zfu.2 - 1 183 c.142G>A c.(142-144)GTG>ATG p.V48M C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN keratin associated protein 12-2 48 23 X 5 AA approximate repeats.|7. keratin filament 0 TTGAAGCTCACGGGCACACAC 0.657 11 19 --- --- --- --- PASS DDX17 10521 broad.mit.edu 37 22 38882080 38882080 + Missense_Mutation SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr22:38882080G>C uc003avy.3 - 13 2159 c.2056C>G c.(2056-2058)CGG>GGG p.R686G DDX17_uc003avw.3_Missense_Mutation_p.R138G|DDX17_uc010gxp.2_Missense_Mutation_p.R136G|DDX17_uc003avx.3_Missense_Mutation_p.R684G NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 605 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) TGCCCAGACCGGCCTATCCCA 0.522 16 69 --- --- --- --- PASS MAP3K15 389840 broad.mit.edu 37 X 19387265 19387265 + Missense_Mutation SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:19387265C>T uc004czk.1 - 26 3535 c.1898G>A c.(1897-1899)GGC>GAC p.G633D MAP3K15_uc004czj.1_Missense_Mutation_p.G593D|MAP3K15_uc004czi.1_Missense_Mutation_p.G92D NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1158 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) TGGGGGATAGCCCTCTTCCGC 0.592 24 14 --- --- --- --- PASS MAGEB4 4115 broad.mit.edu 37 X 30260617 30260617 + Missense_Mutation SNP A G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:30260617A>G uc004dcb.2 + 1 449 c.365A>G c.(364-366)TAC>TGC p.Y122C MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 122 MAGE. ovary(1) 1 TTCCTGCTGTACAAGTATAAA 0.438 4 2 --- --- --- --- PASS FTHL17 53940 broad.mit.edu 37 X 31089535 31089535 + Missense_Mutation SNP C G G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:31089535C>G uc004dcl.1 - 1 639 c.536G>C c.(535-537)CGC>CCC p.R179P NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 179 cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 CTCTTTGACGCGGCCGCCCAG 0.622 14 8 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34961384 34961384 + Silent SNP C T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:34961384C>T uc004ddi.1 + 1 454 c.436C>T c.(436-438)CTA>TTA p.L146L NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 146 ovary(3)|breast(1) 4 TCCAGATCTCCTACTACAGGT 0.572 12 10 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38145143 38145143 + Nonsense_Mutation SNP C A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:38145143C>A uc004ded.1 - 15 3277 c.3109G>T c.(3109-3111)GAG>TAG p.E1037* RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 826 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 tctccttcctcttcctctcct 0.030 3 8 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73045978 73045978 + RNA SNP G C C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:73045978G>C uc004ebn.2 + 1 c.33939G>C XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 GCTGTTGCTGGCAGGTGCTTC 0.478 31 24 --- --- --- --- PASS CSTF2 1478 broad.mit.edu 37 X 100077360 100077360 + Silent SNP A T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:100077360A>T uc004egh.2 + 3 316 c.258A>T c.(256-258)GCA>GCT p.A86A CSTF2_uc010nnd.2_Silent_p.A86A|CSTF2_uc004egi.2_Silent_p.A86A NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 86 RRM. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 GTGGGAGAGCACTTCGAGTGG 0.458 16 7 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110491961 110491961 + Silent SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:110491961G>A uc004epc.1 - 10 1488 c.1320C>T c.(1318-1320)TAC>TAT p.Y440Y CAPN6_uc011msu.1_Silent_p.Y185Y NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 440 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 GCTCCTGGATGTAGAGGTGGT 0.463 17 14 --- --- --- --- PASS AGTR2 186 broad.mit.edu 37 X 115304285 115304285 + Missense_Mutation SNP G A A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:115304285G>A uc004eqh.3 + 3 959 c.752G>A c.(751-753)CGT>CAT p.R251H NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 251 Cytoplasmic (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 AGGATAACCCGTGACCAAGTC 0.438 25 35 --- --- --- --- PASS STARD4 134429 broad.mit.edu 37 5 110835780 110835780 + Frame_Shift_Del DEL T - - TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr5:110835780delT uc003kph.1 - 6 506 c.422delA c.(421-423)AAGfs p.K141fs STARD4_uc010jbw.1_Frame_Shift_Del_p.K43fs|STARD4_uc010jbx.1_Frame_Shift_Del_p.K43fs|STARD4_uc003kpi.1_RNA NM_139164 NP_631903 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain 141 START. lipid transport lipid binding ovary(1) 1 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) TTCTGGTCTCTTTTCATCCCA 0.338 40 20 --- --- --- --- TSC1 7248 broad.mit.edu 37 9 135785964 135785964 + Frame_Shift_Del DEL G - - rs118203506 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr9:135785964delG uc004cca.2 - 12 1491 c.1257delC c.(1255-1257)CCCfs p.P419fs TSC1_uc004ccb.3_Frame_Shift_Del_p.P418fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.P368fs|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Frame_Shift_Del_p.P298fs|TSC1_uc004ccc.1_Frame_Shift_Del_p.P419fs NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 419 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 p.?(1) 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) GCACCTTCCTGGGGGGTGTGA 0.562 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 70 32 --- --- --- --- UMOD 7369 broad.mit.edu 37 16 20348632 20348633 + Frame_Shift_Ins INS - T T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chr16:20348632_20348633insT uc002dgz.2 - 8 1849_1850 c.1720_1721insA c.(1720-1722)ATGfs p.M574fs UMOD_uc002dha.2_Frame_Shift_Ins_p.M574fs|UMOD_uc002dhb.2_Frame_Shift_Ins_p.M607fs NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 574 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 CTTTTCATTCATGGTGTCACAG 0.480 14 8 --- --- --- --- FAM47A 158724 broad.mit.edu 37 X 34148741 34148779 + In_Frame_Del DEL CGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT - - rs45527437 TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 0ac704eb-d722-4c27-bfb4-fea6ca7af240 b903e396-c3d3-43e6-8742-3f99bb216ea2 g.chrX:34148741_34148779delCGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT uc004ddg.2 - 1 1650_1688 c.1617_1655delAGTGTCCAGTCTCCGCCCGGAGCTTCCCAAGAGTCGTCG c.(1615-1656)CGAGTGTCCAGTCTCCGCCCGGAGCTTCCCAAGAGTCGTCGG>CGG p.539_552RVSSLRPELPKSRR>R NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 539_552 ovary(4)|central_nervous_system(1) 5 ACTGGACACCCGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACTCGACGAGTCT 0.611 28 16 --- --- --- ---