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 ACTRT2 140625 broad.mit.edu 37 1 2938330 2938330 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:2938330G>T uc001ajz.2 + 1 285 c.80G>T c.(79-81)GGG>GTG p.G27V NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 27 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GGCCTGTCTGGGGAGTTTGGA 0.577 4 27 --- --- --- --- PASS MEGF6 1953 broad.mit.edu 37 1 3527813 3527813 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:3527813G>T uc001akl.2 - 1 247 c.20C>A c.(19-21)GCG>GAG p.A7E NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 7 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CGCTGCCCTCGCCTCTTCAAG 0.776 4 4 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17298869 17298869 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:17298869G>T uc001azt.2 + 37 6051 c.5982G>T c.(5980-5982)AAG>AAT p.K1994N CROCC_uc001azu.2_Missense_Mutation_p.K1290N|CROCC_uc001azv.2_Missense_Mutation_p.K330N NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1994 Gln-rich. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCACACTGAAGGGCCAGCTGC 0.627 9 21 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24383919 24383919 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:24383919T>C uc001bin.3 - 37 4412 c.4249A>G c.(4249-4251)ACG>GCG p.T1417A MYOM3_uc001bil.3_Missense_Mutation_p.T310A|MYOM3_uc001bim.3_Missense_Mutation_p.T1074A NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1417 Ig-like C2-type 4. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACCTGGCCCGTCTCGGAGCCA 0.567 4 16 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35334339 35334339 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:35334339G>T uc001byc.2 - 7 2352 c.2352C>A c.(2350-2352)GAC>GAA p.D784E NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 784 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CGCGGCCTGAGTCGGGGAGGC 0.572 3 14 --- --- --- --- PASS EPHA10 284656 broad.mit.edu 37 1 38227319 38227319 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:38227319G>T uc009vvi.2 - 3 694 c.608C>A c.(607-609)TCG>TAG p.S203* EPHA10_uc001cbw.3_Nonsense_Mutation_p.S203* NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 203 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GACGCGCACCGAGACAAGCGC 0.662 7 13 --- --- --- --- PASS C8B 732 broad.mit.edu 37 1 57422559 57422559 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:57422559G>A uc001cyp.2 - 3 341 c.274C>T c.(274-276)CCC>TCC p.P92S C8B_uc010oon.1_Missense_Mutation_p.P30S|C8B_uc010ooo.1_Missense_Mutation_p.P40S NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 92 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 AACTGAGAGGGCTGGAGCAAG 0.507 18 57 --- --- --- --- PASS TM2D1 83941 broad.mit.edu 37 1 62190775 62190775 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:62190775C>A uc001czz.1 - 1 321 c.18G>T c.(16-18)CCG>CCT p.P6P NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN beta-amyloid binding protein precursor 6 apoptosis ovary(1) 1 ACGGACCAGACGGCCAGGCGG 0.667 6 32 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62228831 62228831 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:62228831A>G uc001dab.2 + 3 283 c.169A>G c.(169-171)ATC>GTC p.I57V INADL_uc009waf.1_Missense_Mutation_p.I57V|INADL_uc001daa.2_Missense_Mutation_p.I57V NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 57 L27. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TCAGCAGTCCATCAAGCAACT 0.373 8 26 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94497571 94497571 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:94497571G>A uc001dqh.2 - 27 3995 c.3891C>T c.(3889-3891)GTC>GTT p.V1297V NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1297 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTCGGGGGTTGACGTTTTCTC 0.512 5 77 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103444262 103444262 + Splice_Site SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:103444262A>G uc001dul.2 - 35 3072 c.2754_splice c.e35+1 p.R918_splice COL11A1_uc001duk.2_Splice_Site_p.R114_splice|COL11A1_uc001dum.2_Splice_Site_p.R930_splice|COL11A1_uc001dun.2_Splice_Site_p.R879_splice|COL11A1_uc009weh.2_Splice_Site_p.R802_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TATCATACGTACTCTTTCACC 0.383 22 89 --- --- --- --- PASS GSTM3 2947 broad.mit.edu 37 1 110280086 110280086 + Missense_Mutation SNP C A A rs1803686 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:110280086C>A uc001dyo.2 - 8 882 c.572G>T c.(571-573)CGT>CTT p.R191L GSTM3_uc001dyp.2_Missense_Mutation_p.R188L|GSTM3_uc010ovv.1_Missense_Mutation_p.R191L NM_000849 NP_000840 P21266 GSTM3_HUMAN glutathione S-transferase mu 3 191 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding 0 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CACCTCAAAACGGCACATGAA 0.478 8 23 --- --- --- --- PASS OVGP1 5016 broad.mit.edu 37 1 111964252 111964252 + Missense_Mutation SNP T G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:111964252T>G uc001eba.2 - 7 708 c.652A>C c.(652-654)AGT>CGT p.S218R OVGP1_uc001eaz.2_Missense_Mutation_p.S180R|OVGP1_uc010owb.1_Intron NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 218 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CTTTCCCAACTTCCATGTAAG 0.458 3 28 --- --- --- --- PASS C1orf161 126868 broad.mit.edu 37 1 116670900 116670900 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:116670900C>T uc001egc.1 + 6 1060 c.795C>T c.(793-795)CAC>CAT p.H265H NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 265 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TCATGAGGCACCTGAAGGAGG 0.582 4 5 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118640417 118640417 + Nonsense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:118640417C>T uc001ehk.2 - 7 955 c.887G>A c.(886-888)TGG>TAG p.W296* NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 296 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CAAGTACTTCCAGAAAGTTTT 0.338 7 35 --- --- --- --- PASS NBPF14 25832 broad.mit.edu 37 1 148004707 148004707 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:148004707G>A uc001eqq.2 - 22 2624 c.2607C>T c.(2605-2607)TAC>TAT p.Y869Y LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Silent_p.Y217Y|NBPF14_uc010pac.1_Silent_p.Y442Y NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 869 NBPF 10. cytoplasm ovary(1) 1 all_hematologic(923;0.032) GTAGTTCAAAGTACATTGACG 0.433 75 129 --- --- --- --- PASS NBPF14 25832 broad.mit.edu 37 1 148004708 148004708 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:148004708T>C uc001eqq.2 - 22 2623 c.2606A>G c.(2605-2607)TAC>TGC p.Y869C LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.Y217C|NBPF14_uc010pac.1_Missense_Mutation_p.Y442C NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 869 NBPF 10. cytoplasm ovary(1) 1 all_hematologic(923;0.032) TAGTTCAAAGTACATTGACGG 0.433 76 122 --- --- --- --- PASS KPRP 448834 broad.mit.edu 37 1 152732580 152732580 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:152732580C>T uc001fal.1 + 2 574 c.516C>T c.(514-516)TGC>TGT p.C172C NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 172 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCAGTGTGCCAGCCTCAGG 0.522 4 84 --- --- --- --- PASS MTX1 4580 broad.mit.edu 37 1 155180357 155180357 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:155180357G>A uc001fjb.2 + 3 723 c.617G>A c.(616-618)CGG>CAG p.R206Q RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Missense_Mutation_p.R206Q NM_002455 NP_002446 Q13505 MTX1_HUMAN metaxin 1 isoform 1 206 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding skin(1) 1 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTGCCCTTCGGACCAGTCAT 0.493 24 210 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156513993 156513993 + Nonsense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:156513993C>T uc001fpf.2 - 21 2486 c.2411G>A c.(2410-2412)TGG>TAG p.W804* NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 804 IQ 3. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCGAGCTGCCCACATCCGGGC 0.572 9 108 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158614075 158614075 + Silent SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:158614075G>T uc001fst.1 - 30 4505 c.4306C>A c.(4306-4308)CGG>AGG p.R1436R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1436 Spectrin 14. 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) AAATCGTCCCGTTTCTTCATC 0.368 21 50 --- --- --- --- PASS OR6K6 128371 broad.mit.edu 37 1 158725206 158725206 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:158725206C>A uc001fsw.1 + 1 601 c.601C>A c.(601-603)CAG>AAG p.Q201K NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 201 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TGGCTCCAACCAGATCCACCA 0.488 37 52 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169580755 169580755 + Nonsense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:169580755C>T uc001ggi.3 - 7 1187 c.1122G>A c.(1120-1122)TGG>TGA p.W374* SELP_uc001ggh.2_Nonsense_Mutation_p.W209*|SELP_uc009wvr.2_Nonsense_Mutation_p.W374* NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 374 Sushi 3.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGGGTGCAGACCAGTGTCCAG 0.527 5 59 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173883896 173883896 + Nonsense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:173883896G>C uc001gjt.2 - 2 322 c.203C>G c.(202-204)TCA>TGA p.S68* NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 68 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) CTTCTGTTCTGAGCCCTCATC 0.572 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 132 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198668783 198668783 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:198668783C>A uc001gur.1 + 5 563 c.383C>A c.(382-384)TCC>TAC p.S128Y PTPRC_uc001gus.1_Missense_Mutation_p.S128Y|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.S64Y|PTPRC_uc009wzf.1_Missense_Mutation_p.S64Y|PTPRC_uc010ppg.1_Missense_Mutation_p.S64Y|PTPRC_uc001guu.1_Missense_Mutation_p.S171Y|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 128 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTCAGCGGCTCCGCCGCCAAT 0.532 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 108 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248486943 248486943 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:248486943A>G uc010pzk.1 - 1 928 c.928T>C c.(928-930)TCT>CCT p.S310P NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAATCTCCAGACTTGCCCTTT 0.373 6 40 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569754 248569754 + Silent SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr1:248569754C>G uc010pzm.1 + 1 459 c.459C>G c.(457-459)CTC>CTG p.L153L NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 153 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACACTTCCTCTACCTTACCC 0.483 55 98 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1805477 1805477 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:1805477G>A uc002qxe.2 - 23 4094 c.3267C>T c.(3265-3267)CTC>CTT p.L1089L MYT1L_uc002qxd.2_Silent_p.L1087L|MYT1L_uc010ewk.2_Silent_p.L85L NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1089 Potential. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCTGAGTTCTGAGTTTAATCA 0.378 5 140 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8940597 8940597 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:8940597C>G uc002qzc.2 - 9 1015 c.833G>C c.(832-834)AGA>ACA p.R278T KIDINS220_uc010yiv.1_Missense_Mutation_p.R44T|KIDINS220_uc002qzd.2_Missense_Mutation_p.R236T|KIDINS220_uc010yiw.1_Missense_Mutation_p.R279T NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 278 Cytoplasmic (Potential).|ANK 9. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATGACCACCTCTGACAGCGCC 0.373 4 203 --- --- --- --- PASS NRBP1 29959 broad.mit.edu 37 2 27657403 27657403 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:27657403G>C uc002rko.2 + 6 1333 c.501G>C c.(499-501)AAG>AAC p.K167N NRBP1_uc002rkq.2_Missense_Mutation_p.K167N|NRBP1_uc002rkp.2_Missense_Mutation_p.K167N|NRBP1_uc002rkr.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 167 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) AGACCAAAAAGAACCACAAGA 0.393 3 146 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29294605 29294605 + Silent SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:29294605T>C uc002rmt.1 - 1 2523 c.2523A>G c.(2521-2523)AAA>AAG p.K841K NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 841 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 AAGCGAATGATTTGTCCATCA 0.582 5 120 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808585 48808585 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:48808585G>T uc010yol.1 + 1 860 c.813G>T c.(811-813)CAG>CAT p.Q271H STON1_uc002rwo.3_Missense_Mutation_p.Q271H|STON1_uc010fbm.2_Missense_Mutation_p.Q271H|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.Q271H|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.Q271H NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 271 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCAGGAGTCAGCCAAAATCCG 0.453 12 52 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915599 48915599 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:48915599G>T uc002rwu.3 - 11 1407 c.1337C>A c.(1336-1338)ACT>AAT p.T446N GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 446 Helical; Name=3; (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGCGAATACAGTGAAAAAGCC 0.498 Familial_Male-Limited_Precocious_Puberty 4 62 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49195948 49195948 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:49195948G>T uc002rww.2 - 9 817 c.743C>A c.(742-744)TCG>TAG p.S248* FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Nonsense_Mutation_p.S222* NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 248 Extracellular (Potential).|LRR 9. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GTTGTAAGTCGACCTGGCCCT 0.443 Gonadal_Dysgenesis_46_XX 26 30 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74597857 74597857 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:74597857C>T uc002skx.2 - 10 1250 c.939G>A c.(937-939)ATG>ATA p.M313I DCTN1_uc002skv.2_Missense_Mutation_p.M179I|DCTN1_uc002sku.2_Missense_Mutation_p.M179I|DCTN1_uc002skw.1_Missense_Mutation_p.M289I|DCTN1_uc010ffd.2_Missense_Mutation_p.M293I|DCTN1_uc002sky.2_Missense_Mutation_p.M276I NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 313 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GCTCTTCAGCCATCTCCTTGT 0.562 14 127 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79254172 79254172 + Nonsense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:79254172A>T uc002snw.2 + 4 293 c.208A>T c.(208-210)AAG>TAG p.K70* REG3G_uc002snx.2_Nonsense_Mutation_p.K70*|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 70 C-type lectin. acute-phase response extracellular region sugar binding 0 GGCTTGCCAGAAGCGGCCCTC 0.552 41 49 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103090333 103090333 + Missense_Mutation SNP C A A rs140854922 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:103090333C>A uc002tbz.3 + 1 572 c.115C>A c.(115-117)CAG>AAG p.Q39K NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 39 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 TTCCACTGCTCAGTATGCATC 0.428 74 65 --- --- --- --- PASS TGFBRAP1 9392 broad.mit.edu 37 2 105896848 105896848 + Missense_Mutation SNP T G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:105896848T>G uc002tcq.2 - 6 1538 c.1454A>C c.(1453-1455)AAG>ACG p.K485T TGFBRAP1_uc010fjc.2_Missense_Mutation_p.K255T|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.K485T NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 485 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 CTTTTTGTGCTTCTCTAGCCA 0.537 8 16 --- --- --- --- PASS FBLN7 129804 broad.mit.edu 37 2 112945056 112945056 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:112945056C>A uc002tho.1 + 8 1564 c.1293C>A c.(1291-1293)ACC>ACA p.T431T FBLN7_uc002thn.2_Missense_Mutation_p.P347Q|FBLN7_uc010fki.1_Silent_p.T385T|FBLN7_uc010fkj.1_Silent_p.T297T NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 431 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 CCAAGGTCACCATCTTTGTAT 0.592 36 55 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137852605 137852605 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:137852605G>T uc002tva.1 + 3 1020 c.1020G>T c.(1018-1020)ATG>ATT p.M340I THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.M230I NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TGAAGCACATGGCTATTGGAG 0.527 16 24 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141260630 141260630 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:141260630C>A uc002tvj.1 - 54 9536 c.8564G>T c.(8563-8565)GGG>GTG p.G2855V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2855 Extracellular (Potential).|LDL-receptor class A 19. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGACACCGCCCATCAGCACA 0.398 TSP Lung(27;0.18) 4 45 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141819680 141819680 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:141819680G>T uc002tvj.1 - 8 2148 c.1176C>A c.(1174-1176)GAC>GAA p.D392E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 392 Extracellular (Potential).|LDL-receptor class B 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCCCACATAGTCCAAGTAAA 0.408 TSP Lung(27;0.18) 4 71 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166929997 166929997 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:166929997G>A uc010zcz.1 - 1 153 c.135C>T c.(133-135)GAC>GAT p.D45D NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 45 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCCATTTTCGTCGTCATCTT 0.448 4 188 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178936383 178936383 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:178936383T>C uc002ulq.2 - 1 1100 c.782A>G c.(781-783)CAT>CGT p.H261R PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 261 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGTTCCTGCATGCACATCAAA 0.537 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 32 39 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179417523 179417523 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:179417523C>T uc010zfg.1 - 284 82624 c.82400G>A c.(82399-82401)CGT>CAT p.R27467H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21162H|TTN_uc010zfi.1_Missense_Mutation_p.R21095H|TTN_uc010zfj.1_Missense_Mutation_p.R20970H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28394 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) TGAGAGATCACGTATAGGAGC 0.438 5 44 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179585310 179585310 + Nonsense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:179585310C>A uc010zfg.1 - 77 19671 c.19447G>T c.(19447-19449)GGA>TGA p.G6483* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G3144* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7410 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) GGGGGAGTTCCCGAAATTTCA 0.388 3 22 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179590103 179590103 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:179590103A>G uc010zfg.1 - 68 17320 c.17096T>C c.(17095-17097)ATG>ACG p.M5699T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2360T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6626 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) ACCTAAGACCATCAGTGTGGC 0.313 4 5 --- --- --- --- PASS DUSP19 142679 broad.mit.edu 37 2 183960325 183960325 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:183960325G>A uc002upd.2 + 4 968 c.593G>A c.(592-594)CGT>CAT p.R198H DUSP19_uc010frp.2_Missense_Mutation_p.R147H|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_3'UTR NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 198 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 GAGCAGCTTCGTACATATCAA 0.398 4 58 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802120 185802120 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:185802120C>A uc002uph.2 + 4 2591 c.1997C>A c.(1996-1998)TCC>TAC p.S666Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 666 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAATCCATATCCTTAAGTGAC 0.318 9 77 --- --- --- --- PASS GULP1 51454 broad.mit.edu 37 2 189348175 189348175 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:189348175A>G uc010fru.2 + 4 507 c.46A>G c.(46-48)ACA>GCA p.T16A GULP1_uc002uqc.3_Missense_Mutation_p.T16A|GULP1_uc002uqd.2_Missense_Mutation_p.T16A|GULP1_uc010zfw.1_Missense_Mutation_p.T16A|GULP1_uc002uqe.2_Missense_Mutation_p.T16A|GULP1_uc002uqf.2_Missense_Mutation_p.T16A|GULP1_uc002uqg.2_Missense_Mutation_p.T16A NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 16 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) ATGGATGCATACACCTGAAGC 0.269 15 16 --- --- --- --- PASS MSTN 2660 broad.mit.edu 37 2 190922267 190922267 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:190922267C>T uc002urp.2 - 3 978 c.845G>A c.(844-846)TGT>TAT p.C282Y NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 282 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) AGGGTAACGACAGCATCGTGA 0.418 24 32 --- --- --- --- PASS SLC39A10 57181 broad.mit.edu 37 2 196581432 196581432 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:196581432G>C uc002utg.3 + 7 1982 c.1768G>C c.(1768-1770)GAA>CAA p.E590Q SLC39A10_uc002uth.3_Missense_Mutation_p.E590Q|SLC39A10_uc010zgp.1_Missense_Mutation_p.E140Q NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 590 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) AGGCCAACAAGAATCCCCTCC 0.373 7 53 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196741285 196741285 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:196741285G>A uc002utj.3 - 37 6201 c.6100C>T c.(6100-6102)CCT>TCT p.P2034S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2034 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTGCCCAAAGGAGGACCAAAA 0.423 3 52 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200137131 200137131 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:200137131G>A uc002uuy.1 - 11 2822 c.2005C>T c.(2005-2007)CAC>TAC p.H669Y SATB2_uc010fsq.1_Missense_Mutation_p.H551Y|SATB2_uc002uuz.1_Missense_Mutation_p.H669Y|SATB2_uc002uva.1_Missense_Mutation_p.H669Y NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 669 Homeobox. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TGCTTCACGTGGTACCGCTGG 0.567 6 65 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200137256 200137256 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:200137256C>G uc002uuy.1 - 11 2697 c.1880G>C c.(1879-1881)GGG>GCG p.G627A SATB2_uc010fsq.1_Missense_Mutation_p.G509A|SATB2_uc002uuz.1_Missense_Mutation_p.G627A|SATB2_uc002uva.1_Missense_Mutation_p.G627A NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 627 Homeobox. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TTGGAGGATCCCCAGGGCTTC 0.552 8 40 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201468035 201468035 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:201468035G>T uc002uvx.2 + 7 645 c.544G>T c.(544-546)GAT>TAT p.D182Y NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 182 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGCTGTTTGGATCAAGGAAT 0.388 4 41 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201499549 201499549 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:201499549A>G uc002uvx.2 + 21 2358 c.2257A>G c.(2257-2259)ATG>GTG p.M753V AOX1_uc010zhf.1_Missense_Mutation_p.M309V|AOX1_uc010fsu.2_Missense_Mutation_p.M119V NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 753 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACATTTTTATATGGAAACCCA 0.433 10 18 --- --- --- --- PASS CXCR2 3579 broad.mit.edu 37 2 219000268 219000268 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr2:219000268G>A uc002vgz.1 + 4 969 c.744G>A c.(742-744)CGG>CGA p.R248R CXCR2_uc002vha.1_Silent_p.R248R|CXCR2_uc002vhb.1_Silent_p.R248R NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 248 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 AGAAGCACCGGGCCATGCGGG 0.587 34 96 --- --- --- --- PASS ZNF385D 79750 broad.mit.edu 37 3 21706457 21706457 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:21706457G>T uc003cce.2 - 2 494 c.86C>A c.(85-87)CCA>CAA p.P29Q ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 29 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 ATCCAGCGATGGTTGCAAAGG 0.522 15 19 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36898726 36898726 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:36898726G>A uc003cgj.2 - 3 1007 c.705C>T c.(703-705)TTC>TTT p.F235F NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 785 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TCATGTTATCGAAGTCCTGGA 0.502 29 134 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39230454 39230454 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:39230454C>G uc003cjk.1 - 2 704 c.483G>C c.(481-483)GAG>GAC p.E161D XIRP1_uc003cji.2_Missense_Mutation_p.E161D|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 161 Xin 3. 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) GTGGCTTTGTCTCAAATAGCC 0.607 7 34 --- --- --- --- PASS CTNNB1 1499 broad.mit.edu 37 3 41278137 41278137 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:41278137G>A uc010hia.1 + 14 2169 c.2013G>A c.(2011-2013)AAG>AAA p.K671K CTNNB1_uc003ckp.2_Silent_p.K671K|CTNNB1_uc003ckq.2_Silent_p.K671K|CTNNB1_uc003ckr.2_Silent_p.K671K|CTNNB1_uc011azf.1_Silent_p.K664K|CTNNB1_uc011azg.1_Silent_p.K599K|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_3'UTR NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 671 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.E632_S681>SV(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) AAGATTACAAGAAACGGCTTT 0.448 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 4 63 --- --- --- --- PASS FAM19A1 407738 broad.mit.edu 37 3 68055808 68055808 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:68055808G>C uc003dnd.2 + 2 255 c.39G>C c.(37-39)TTG>TTC p.L13F FAM19A1_uc003dne.2_Missense_Mutation_p.L13F|FAM19A1_uc003dng.2_Missense_Mutation_p.L13F|FAM19A1_uc003dnf.1_RNA NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 13 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TCCTGTATTTGTGGATAAGTG 0.522 3 85 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983260 97983260 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:97983260C>T uc003dsi.1 + 1 132 c.132C>T c.(130-132)TTC>TTT p.F44F NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 TACCGCTCTTCCTGGCATTCT 0.413 39 190 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111325605 111325605 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:111325605C>T uc003dxw.2 + 9 1364 c.1194C>T c.(1192-1194)ACC>ACT p.T398T CD96_uc003dxv.2_Silent_p.T382T|CD96_uc003dxx.2_Silent_p.T382T|CD96_uc010hpy.1_Silent_p.T382T NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 398 Extracellular (Potential).|Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 CCCTTGACACCCAACCTTCTC 0.373 Opitz_Trigonocephaly_syndrome 10 25 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115395178 115395178 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:115395178G>A uc003ebq.2 + 2 735 c.349G>A c.(349-351)GAT>AAT p.D117N GAP43_uc003ebr.2_Missense_Mutation_p.D153N NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 117 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) GGGGGAGGGTGATGCTGCCAC 0.602 6 16 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115395328 115395328 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:115395328C>A uc003ebq.2 + 2 885 c.499C>A c.(499-501)CAA>AAA p.Q167K GAP43_uc003ebr.2_Missense_Mutation_p.Q203K NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 167 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) GGAGCCTAAACAAGCCGATGT 0.423 4 14 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123367818 123367818 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:123367818G>T uc003ego.2 - 26 4697 c.4415C>A c.(4414-4416)TCT>TAT p.S1472Y MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.S272Y|MYLK_uc011bjw.1_Missense_Mutation_p.S1472Y|MYLK_uc003egp.2_Missense_Mutation_p.S1403Y|MYLK_uc003egq.2_Missense_Mutation_p.S1472Y|MYLK_uc003egr.2_Missense_Mutation_p.S1403Y|MYLK_uc003egs.2_Missense_Mutation_p.S1296Y NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1472 ATP (By similarity).|Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCCACTTACGATCCTAATCT 0.527 8 49 --- --- --- --- PASS KCNAB1 7881 broad.mit.edu 37 3 155838411 155838411 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:155838411C>G uc003far.2 + 1 75 c.11C>G c.(10-12)GCC>GGC p.A4G KCNAB1_uc011bon.1_Missense_Mutation_p.A4G NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 4 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ATGCTGGCAGCCCGGACAGGG 0.502 23 226 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157081471 157081471 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:157081471T>C uc003fbj.1 - 9 1734 c.1417A>G c.(1417-1419)ATA>GTA p.I473V VEPH1_uc003fbk.1_Missense_Mutation_p.I473V|VEPH1_uc010hvu.1_Missense_Mutation_p.I473V NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 473 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGGCTGGTATGTCTCCCCTG 0.478 12 98 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 158261214 158261214 + Missense_Mutation SNP G A A rs144776555 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:158261214G>A uc003fbt.2 + 9 961 c.850G>A c.(850-852)GAT>AAT p.D284N RSRC1_uc003fbv.2_Missense_Mutation_p.D226N NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 284 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAAAGAAATAGATCCTACCAG 0.418 15 143 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 158261220 158261220 + Missense_Mutation SNP A C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:158261220A>C uc003fbt.2 + 9 967 c.856A>C c.(856-858)ACC>CCC p.T286P RSRC1_uc003fbv.2_Missense_Mutation_p.T228P NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 286 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AATAGATCCTACCAGCATCCC 0.413 16 144 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160248717 160248717 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:160248717T>A uc003fdn.2 - 7 701 c.395A>T c.(394-396)CAG>CTG p.Q132L NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 132 ARM 2. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AGCTTCAAACTGTAAAGAAGG 0.338 9 69 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907779 164907779 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:164907779G>A uc003fej.3 - 2 1284 c.840C>T c.(838-840)CTC>CTT p.L280L SLITRK3_uc003fek.2_Silent_p.L280L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 280 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ACAAGGGACAGAGTTCTGTCT 0.483 HNSCC(40;0.11) 28 94 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169820624 169820624 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:169820624G>A uc010hws.1 - 13 2595 c.2531C>T c.(2530-2532)CCT>CTT p.P844L PHC3_uc003fgl.2_Missense_Mutation_p.P856L|PHC3_uc011bpq.1_Missense_Mutation_p.P803L NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 844 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TGCCCCATCAGGGCCACTTGG 0.438 15 91 --- --- --- --- PASS MIR569 693154 broad.mit.edu 37 3 170824503 170824503 + RNA SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:170824503T>A hsa-mir-569|MI0003576 - c.46T>A TNIK_uc003fhh.2_Intron|TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron 0 CTGATGTTGCTTCTGATGCTG 0.348 6 187 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 172016525 172016525 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:172016525G>A uc003fhy.2 + 9 1181 c.1009G>A c.(1009-1011)GAA>AAA p.E337K FNDC3B_uc003fhz.3_Missense_Mutation_p.E337K|FNDC3B_uc003fia.2_Missense_Mutation_p.E268K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 337 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CAGTGGAGAAGAATTAGAATG 0.368 5 231 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 175165048 175165048 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:175165048C>T uc003fit.2 + 6 1209 c.1122C>T c.(1120-1122)CTC>CTT p.L374L NAALADL2_uc003fiu.1_Silent_p.L367L|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_5'UTR NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 374 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GATCAAACCTCACCTCTCTAT 0.388 4 41 --- --- --- --- PASS AP2M1 1173 broad.mit.edu 37 3 183900585 183900585 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:183900585G>T uc011bqx.1 + 11 1259 c.1102G>T c.(1102-1104)GCA>TCA p.A368S AP2M1_uc003fmw.2_Missense_Mutation_p.A366S|AP2M1_uc003fmx.2_Missense_Mutation_p.A296S|AP2M1_uc003fmy.2_Missense_Mutation_p.A366S|AP2M1_uc011bqy.1_Missense_Mutation_p.A238S|AP2M1_uc011bqz.1_Missense_Mutation_p.A184S NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 368 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGATCAGCGCAGAGATTGA 0.527 3 71 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196388330 196388330 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr3:196388330G>T uc003fwv.2 + 3 1920 c.1816G>T c.(1816-1818)GCC>TCC p.A606S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 606 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TGGCTGGGGGGCCCTGCAGCA 0.632 5 164 --- --- --- --- PASS LAP3 51056 broad.mit.edu 37 4 17585116 17585116 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:17585116G>T uc003gph.1 + 5 552 c.390G>T c.(388-390)AGG>AGT p.R130S LAP3_uc010ieg.2_Missense_Mutation_p.G95V NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 130 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 CGGGGTGCAGGCAGATTCAAG 0.532 26 74 --- --- --- --- PASS PPARGC1A 10891 broad.mit.edu 37 4 23803907 23803907 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:23803907C>A uc003gqs.2 - 11 2201 c.2081G>T c.(2080-2082)AGG>ATG p.R694M PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 694 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AAAACGGTCCCTCAGTTCTGT 0.458 17 39 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46053442 46053442 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:46053442G>T uc003gxb.2 - 8 1282 c.1130C>A c.(1129-1131)TCG>TAG p.S377* NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 377 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTAACATACCGAGGCTTTATT 0.318 5 12 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56734579 56734579 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:56734579G>T uc003hbe.1 + 5 651 c.493G>T c.(493-495)GCA>TCA p.A165S EXOC1_uc003hbf.1_Missense_Mutation_p.A165S|EXOC1_uc003hbg.1_Missense_Mutation_p.A165S NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 165 Potential. exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AGAGTTAAATGCAAGAGAAGA 0.393 9 18 --- --- --- --- PASS UTP3 57050 broad.mit.edu 37 4 71555719 71555719 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:71555719G>A uc003hfo.2 + 1 1524 c.1325G>A c.(1324-1326)AGA>AAA p.R442K NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 442 brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) AAGTTCAGAAGAGCCAAAATT 0.408 17 58 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72263358 72263358 + Silent SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:72263358G>C uc003hfy.2 + 7 912 c.795G>C c.(793-795)CCG>CCC p.P265P SLC4A4_uc010iic.2_Silent_p.P265P|SLC4A4_uc010iib.2_Silent_p.P265P|SLC4A4_uc003hfz.2_Silent_p.P265P|SLC4A4_uc003hgc.3_Silent_p.P221P|SLC4A4_uc003hga.2_Silent_p.P143P|SLC4A4_uc003hgb.3_Silent_p.P221P NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 265 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CTGATAAACCGGAGAAGGACC 0.393 8 38 --- --- --- --- PASS ADH1B 125 broad.mit.edu 37 4 100235165 100235165 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:100235165G>T uc003hus.3 - 6 725 c.641C>A c.(640-642)GCA>GAA p.A214E ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.A174E|ADH1B_uc011ceh.1_Missense_Mutation_p.A59E|ADH1B_uc011cei.1_Missense_Mutation_p.A174E NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 214 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TGCTCCAGCTGCTTTACAGCC 0.502 38 195 --- --- --- --- PASS TBCK 93627 broad.mit.edu 37 4 107230062 107230062 + Missense_Mutation SNP A C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:107230062A>C uc010ilv.2 - 2 421 c.56T>G c.(55-57)CTG>CGG p.L19R TBCK_uc003hye.2_Missense_Mutation_p.L19R|TBCK_uc003hyc.2_Missense_Mutation_p.L19R|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.L19R NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 19 Protein kinase. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 ATCATGTGGCAGAGCCGAGGC 0.443 5 35 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123305122 123305122 + Splice_Site SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:123305122G>C uc003ieo.2 + 5 761 c.529_splice c.e5+1 p.G177_splice ADAD1_uc003iep.2_Splice_Site_p.G177_splice|ADAD1_uc003ieq.2_Splice_Site_p.G159_splice NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 GAAACATCAGGTAAATACTCT 0.333 8 22 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156629398 156629398 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:156629398G>A uc003iov.2 + 6 864 c.328G>A c.(328-330)GAA>AAA p.E110K GUCY1A3_uc003iou.2_Missense_Mutation_p.E110K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E110K|GUCY1A3_uc003iow.2_Missense_Mutation_p.E110K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.E110K|GUCY1A3_uc003iox.2_Missense_Mutation_p.E110K|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.E110K|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.E110K NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 110 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAAATCTTTGGAAAGAGAAGA 0.279 5 39 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177071097 177071097 + Silent SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:177071097T>A uc003iuj.2 + 15 2265 c.2109T>A c.(2107-2109)ATT>ATA p.I703I WDR17_uc003iuk.2_Silent_p.I679I|WDR17_uc003ium.3_Silent_p.I679I|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 703 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AAGAAATTATTGGGAACACTG 0.353 28 69 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177098642 177098642 + Missense_Mutation SNP A C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:177098642A>C uc003iuj.2 + 30 3842 c.3686A>C c.(3685-3687)TAT>TCT p.Y1229S WDR17_uc003iuk.2_Missense_Mutation_p.Y1205S|WDR17_uc003ium.3_Missense_Mutation_p.Y1190S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Y440S NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1229 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GACTCTCCGTATACACCCCCT 0.308 9 69 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186544316 186544316 + Missense_Mutation SNP G T T rs144923775 byFrequency TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:186544316G>T uc003iyl.2 - 13 3113 c.2255C>A c.(2254-2256)CCG>CAG p.P752Q SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P852Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P656Q|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P866Q|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GCTGTTGTCCGGCAAGCTCCC 0.527 32 169 --- --- --- --- PASS F11 2160 broad.mit.edu 37 4 187192828 187192828 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:187192828C>T uc003iza.1 + 3 454 c.121C>T c.(121-123)CCA>TCA p.P41S F11_uc003iyz.2_Missense_Mutation_p.P41S NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 41 Apple 1. 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) GGTCTTCACACCAAGCGCCAA 0.488 33 46 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924097 188924097 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr4:188924097G>T uc003izg.1 + 3 381 c.136G>T c.(136-138)GTG>TTG p.V46L ZFP42_uc003izh.1_Missense_Mutation_p.V46L|ZFP42_uc003izi.1_Missense_Mutation_p.V46L NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 46 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TGTCAGCGCGGTGTGGGCCTT 0.567 17 35 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5186183 5186183 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:5186183A>G uc003jdl.2 + 5 920 c.782A>G c.(781-783)AAG>AGG p.K261R ADAMTS16_uc003jdk.1_Missense_Mutation_p.K261R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.K261R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 261 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CAGCCTCCCAAGGAAGACCTC 0.488 28 133 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11117570 11117570 + Missense_Mutation SNP C G G rs141186137 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:11117570C>G uc003jfa.1 - 13 2414 c.2269G>C c.(2269-2271)GAT>CAT p.D757H CTNND2_uc010itt.2_Missense_Mutation_p.D666H|CTNND2_uc011cmy.1_Missense_Mutation_p.D420H|CTNND2_uc011cmz.1_Missense_Mutation_p.D324H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D324H NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 757 ARM 6. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ACCTTGCTATCGATCTCACTG 0.522 33 54 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14389424 14389424 + Silent SNP C A A rs145624600 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:14389424C>A uc003jff.2 + 25 3981 c.3975C>A c.(3973-3975)GGC>GGA p.G1325G TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.G1276G|TRIO_uc003jfh.1_Silent_p.G974G NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1325 DH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TGACCAGTGGCGTGGAAGAGA 0.403 4 18 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23527031 23527031 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:23527031G>A uc003jgo.2 + 11 2016 c.1834G>A c.(1834-1836)GAG>AAG p.E612K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 612 C2H2-type 5. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TGTCTGCAGGGAGTGTGGGCG 0.622 HNSCC(3;0.000094) 15 48 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40937697 40937697 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:40937697A>T uc003jmh.2 + 6 586 c.472A>T c.(472-474)ACC>TCC p.T158S C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 158 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) AGTCATCAATACCAAAAGTTT 0.403 7 20 --- --- --- --- PASS SERINC5 256987 broad.mit.edu 37 5 79442032 79442032 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:79442032C>T uc003kgj.2 - 11 1248 c.1119G>A c.(1117-1119)AAG>AAA p.K373K SERINC5_uc003kgk.2_Silent_p.K371K|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Silent_p.K373K|SERINC5_uc011ctj.1_Silent_p.K373K NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 373 Extracellular (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GTGGTCCCTCCTTCCCCGGCT 0.507 4 114 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82816665 82816665 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:82816665C>A uc003kii.3 + 7 2896 c.2540C>A c.(2539-2541)ACT>AAT p.T847N VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T847N|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 847 GAG-alpha (glucosaminoglycan attachment domain). 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) CCAAGTTTCACTGAAGATGGA 0.423 12 33 --- --- --- --- PASS CAST 831 broad.mit.edu 37 5 96075820 96075820 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:96075820G>T uc003klz.1 + 10 790 c.628G>T c.(628-630)GCT>TCT p.A210S CAST_uc003klt.2_Missense_Mutation_p.A210S|CAST_uc003klu.2_Missense_Mutation_p.A293S|CAST_uc003klv.2_Missense_Mutation_p.A271S|CAST_uc003klw.2_Missense_Mutation_p.A274S|CAST_uc003klx.2_Missense_Mutation_p.A252S|CAST_uc003kly.2_Missense_Mutation_p.A271S|CAST_uc011cuo.1_Missense_Mutation_p.A256S|CAST_uc011cup.1_Missense_Mutation_p.A161S|CAST_uc011cuq.1_Missense_Mutation_p.A58S|CAST_uc011cur.1_Missense_Mutation_p.A196S|CAST_uc011cus.1_Missense_Mutation_p.A210S|CAST_uc003kma.1_Missense_Mutation_p.A169S|CAST_uc011cut.1_Missense_Mutation_p.A138S|CAST_uc003kmb.2_Missense_Mutation_p.A169S|CAST_uc003kmc.2_Missense_Mutation_p.A210S|CAST_uc003kmd.2_Missense_Mutation_p.A188S|CAST_uc003kme.2_Missense_Mutation_p.A169S|CAST_uc003kmf.2_Missense_Mutation_p.A188S|CAST_uc003kmh.2_5'Flank|CAST_uc010jbj.2_5'Flank|CAST_uc010jbk.2_5'Flank NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 210 Inhibitory domain 1. calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) GGAACTATTGGCTGTAAGTTA 0.294 3 9 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113831627 113831627 + Silent SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:113831627A>G uc003kqo.2 + 8 1945 c.1488A>G c.(1486-1488)TTA>TTG p.L496L KCNN2_uc003kqp.2_Silent_p.L148L|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 496 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTTCTGACTTAAACGAAAGGA 0.428 18 77 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475273 140475273 + Nonsense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:140475273C>A uc003lil.2 + 1 1037 c.899C>A c.(898-900)TCG>TAG p.S300* PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 300 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTGCAAAATCGGGAGAACTG 0.413 4 46 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140502076 140502076 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:140502076C>G uc003lip.1 + 1 496 c.496C>G c.(496-498)CTT>GTT p.L166V NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 166 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCAATGGTCTTCAAAAATA 0.433 8 24 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145439472 145439472 + Silent SNP C T T rs148067714 byFrequency TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:145439472C>T uc003lnt.2 + 9 1837 c.1599C>T c.(1597-1599)CTC>CTT p.L533L SH3RF2_uc011dbl.1_Silent_p.L533L|SH3RF2_uc011dbm.1_Silent_p.L18L|SH3RF2_uc003lnu.2_Silent_p.L24L|SH3RF2_uc011dbn.1_Silent_p.L24L|SH3RF2_uc011dbo.1_5'UTR NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 533 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCCACTCTCGTGGTAGGCT 0.627 3 36 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 156021964 156021964 + Silent SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:156021964T>C uc003lwd.3 + 5 878 c.402T>C c.(400-402)TAT>TAC p.Y134Y SGCD_uc003lwa.1_Silent_p.Y135Y|SGCD_uc003lwb.2_Silent_p.Y135Y|SGCD_uc003lwc.3_Silent_p.Y135Y NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 134 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAGAAGCTTATGGTAAAAAAT 0.274 4 17 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161322698 161322698 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr5:161322698A>T uc010jiw.2 + 10 1351 c.883A>T c.(883-885)ACA>TCA p.T295S GABRA1_uc010jix.2_Missense_Mutation_p.T295S|GABRA1_uc010jiy.2_Missense_Mutation_p.T295S|GABRA1_uc003lyx.3_Missense_Mutation_p.T295S|GABRA1_uc010jiz.2_Missense_Mutation_p.T295S|GABRA1_uc010jja.2_Missense_Mutation_p.T295S|GABRA1_uc010jjb.2_Missense_Mutation_p.T295S NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 295 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CACCATGACAACATTGAGCAT 0.423 6 28 --- --- --- --- PASS HIST1H2BI 8346 broad.mit.edu 37 6 26273498 26273498 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:26273498G>C uc003nhk.2 + 1 295 c.295G>C c.(295-297)GTG>CTG p.V99L HIST1H3G_uc003nhi.2_5'Flank NM_003525 NP_003516 P62807 H2B1C_HUMAN histone cluster 1, H2bi 99 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CCAAACGGCTGTGCGCCTGCT 0.592 15 62 --- --- --- --- PASS HIST1H2BO 8348 broad.mit.edu 37 6 27861243 27861243 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:27861243G>T uc003nkc.1 + 1 41 c.3G>T c.(1-3)ATG>ATT p.M1I HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 1 nucleosome assembly nucleosome|nucleus DNA binding 0 CCTCCGCCATGCCCGACCCGG 0.502 4 32 --- --- --- --- PASS HIST1H2BO 8348 broad.mit.edu 37 6 27861400 27861400 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:27861400G>T uc003nkc.1 + 1 198 c.160G>T c.(160-162)GGC>TGC p.G54C HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 54 nucleosome assembly nucleosome|nucleus DNA binding 0 CCCCGACACCGGCATCTCATC 0.557 14 90 --- --- --- --- PASS ZKSCAN4 387032 broad.mit.edu 37 6 28214766 28214766 + Missense_Mutation SNP A T T rs146547857 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:28214766A>T uc003nks.1 - 4 1003 c.759T>A c.(757-759)CAT>CAA p.H253Q ZKSCAN4_uc011dlb.1_Missense_Mutation_p.H98Q NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 253 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CCAGGCTGCTATGGTTCTCCT 0.463 23 36 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054686 29054686 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:29054686G>A uc003nlx.2 - 1 405 c.340C>T c.(340-342)CTT>TTT p.L114F NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 ACAGCCAGAAGGAGACACTCT 0.468 6 28 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29364805 29364805 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:29364805C>G uc003nmf.3 + 1 390 c.329C>G c.(328-330)TCC>TGC p.S110C NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGCACGGAGTCCATGTTGTTC 0.498 22 33 --- --- --- --- PASS ABCF1 23 broad.mit.edu 37 6 30553957 30553957 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:30553957G>T uc003nql.2 + 18 1855 c.1760G>T c.(1759-1761)CGA>CTA p.R587L ABCF1_uc003nqm.2_Missense_Mutation_p.R549L|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 587 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 CAGAAATGCCGACGGAAAAAC 0.547 4 29 --- --- --- --- PASS C6orf25 80739 broad.mit.edu 37 6 31691568 31691568 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:31691568C>T uc011doc.1 + 2 214 c.214C>T c.(214-216)CCC>TCC p.P72S LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.P72S|C6orf25_uc011dod.1_Missense_Mutation_p.P72S|C6orf25_uc011doe.1_Missense_Mutation_p.P72S|C6orf25_uc003nwo.2_Missense_Mutation_p.P72S|C6orf25_uc003nwn.2_Missense_Mutation_p.P72S NM_138272 NP_612116 O95866 G6B_HUMAN G6B protein isoform G6b-B precursor 72 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity 0 GAGCGGGACCCCCACCGTGCC 0.697 11 37 --- --- --- --- PASS KIFC1 3833 broad.mit.edu 37 6 33373395 33373395 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:33373395C>T uc003oef.3 + 7 1973 c.1523C>T c.(1522-1524)TCC>TTC p.S508F KIFC1_uc011drf.1_Missense_Mutation_p.S500F NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 508 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 GTCCCTGTCTCCTGTGAGAAA 0.587 5 10 --- --- --- --- PASS GNMT 27232 broad.mit.edu 37 6 42930890 42930890 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:42930890C>T uc003otd.2 + 4 538 c.532C>T c.(532-534)CGC>TGC p.R178C uc003ote.1_5'Flank NM_018960 NP_061833 Q14749 GNMT_HUMAN glycine N-methyltransferase 178 Substrate (By similarity). protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity 0 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) CATTGATCATCGCAACTACGA 0.517 5 26 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49582417 49582417 + Nonsense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:49582417G>A uc003ozk.3 - 5 852 c.790C>T c.(790-792)CGA>TGA p.R264* RHAG_uc010jzl.2_Nonsense_Mutation_p.R264*|RHAG_uc010jzm.2_Nonsense_Mutation_p.R264* NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 264 Cytoplasmic (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) AGCTTGCCTCGGTGCTCCACT 0.498 3 67 --- --- --- --- PASS KHDRBS2 202559 broad.mit.edu 37 6 62604627 62604627 + Silent SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:62604627A>G uc003peg.2 - 6 970 c.723T>C c.(721-723)GGT>GGC p.G241G NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 241 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) GGGTAGGGACACCTCTTGCTA 0.592 9 44 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75865550 75865550 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:75865550T>C uc003phs.2 - 16 3437 c.3271A>G c.(3271-3273)AGA>GGA p.R1091G COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1091 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTGAGGTTTCTAGGAGACTTA 0.413 37 51 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85472425 85472425 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:85472425C>T uc003pkl.1 - 2 334 c.334G>A c.(334-336)GCG>ACG p.A112T TBX18_uc010kbq.1_5'UTR NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 112 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CCCGGTGACGCCAGAGGGGAA 0.711 10 14 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97613216 97613216 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:97613216C>A uc003ppb.2 - 21 3393 c.3127G>T c.(3127-3129)GAT>TAT p.D1043Y C6orf167_uc011eaf.1_Missense_Mutation_p.D1003Y NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 1043 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TGTCCAAGATCTGAAACATAT 0.383 11 50 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838775 100838775 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:100838775G>A uc003pqj.3 - 11 1970 c.1763C>T c.(1762-1764)CCC>CTC p.P588L SIM1_uc010kcu.2_Missense_Mutation_p.P588L NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 588 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTGGTCTGAGGGGGCTTTCCT 0.463 9 43 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102124644 102124644 + Missense_Mutation SNP T G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:102124644T>G uc003pqp.3 + 4 937 c.688T>G c.(688-690)TGT>GGT p.C230G GRIK2_uc003pqn.2_Missense_Mutation_p.C230G|GRIK2_uc003pqo.3_Missense_Mutation_p.C230G|GRIK2_uc010kcw.2_Missense_Mutation_p.C230G NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 230 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AATCTTTGATTGTAGCCATGA 0.338 16 37 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117662333 117662333 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:117662333C>A uc003pxp.1 - 30 5243 c.5044G>T c.(5044-5046)GTT>TTT p.V1682F ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1682 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATGAGGTTAACATTCAATGGA 0.358 T GOPC|ROS1 glioblastoma|NSCLC 3 46 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123545265 123545265 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:123545265C>G uc003pzj.1 - 39 2009 c.1987G>C c.(1987-1989)GAT>CAT p.D663H TRDN_uc010kem.1_Missense_Mutation_p.D164H NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 663 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GCTGGTACATCTTCAACATCT 0.328 7 19 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 132004193 132004193 + Splice_Site SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:132004193G>C uc003qcu.3 + 13 1359 c.1012_splice c.e13-1 p.V338_splice ENPP3_uc010kfo.1_Splice_Site|ENPP3_uc010kfp.1_Splice_Site|ENPP3_uc010kfq.2_Splice_Site|ENPP3_uc003qcv.2_Splice_Site_p.V338_splice NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TTATTTTTCAGGTAATTAAAG 0.363 12 36 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133703559 133703559 + Silent SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:133703559T>A uc003qec.3 + 3 521 c.63T>A c.(61-63)GTT>GTA p.V21V EYA4_uc011ecq.1_Silent_p.V21V|EYA4_uc011ecr.1_Silent_p.V21V|EYA4_uc003qed.3_Silent_p.V21V|EYA4_uc003qee.3_Silent_p.V21V|EYA4_uc011ecs.1_Silent_p.V21V NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 21 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AATCAGATGTTTCACAATCTC 0.373 32 88 --- --- --- --- PASS SGK1 6446 broad.mit.edu 37 6 134495154 134495154 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:134495154G>A uc003qen.3 - 3 306 c.217C>T c.(217-219)CCT>TCT p.P73S SGK1_uc003qeo.3_Missense_Mutation_p.P168S|SGK1_uc011ect.1_Missense_Mutation_p.P63S|SGK1_uc011ecu.1_Missense_Mutation_p.P73S|SGK1_uc011ecv.1_Missense_Mutation_p.P87S|SGK1_uc011ecw.1_Missense_Mutation_p.P101S NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 73 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GGAGGAGAAGGGTTGGCATTC 0.438 16 48 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144768371 144768371 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:144768371G>T uc003qkt.2 + 14 1731 c.1639G>T c.(1639-1641)GAA>TAA p.E547* UTRN_uc010khq.1_Nonsense_Mutation_p.E547* NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 547 Interaction with SYNM.|Spectrin 4. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTGGTTAACCGAAAAAGAAGA 0.358 4 17 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152673328 152673328 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:152673328C>A uc010kiw.2 - 70 12016 c.11414G>T c.(11413-11415)CGG>CTG p.R3805L SYNE1_uc003qot.3_Missense_Mutation_p.R3790L|SYNE1_uc003qou.3_Missense_Mutation_p.R3805L|SYNE1_uc010kja.1_Missense_Mutation_p.R510L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3805 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGTTCTTTCCGGACAGTGCT 0.443 HNSCC(10;0.0054) 30 107 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155485735 155485735 + Splice_Site SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr6:155485735G>T uc003qqb.2 + 10 3487 c.2214_splice c.e10+1 p.L738_splice TIAM2_uc003qqe.2_Splice_Site_p.L738_splice|TIAM2_uc010kjj.2_Splice_Site_p.L271_splice|TIAM2_uc003qqf.2_Splice_Site_p.L90_splice|TIAM2_uc011efl.1_Splice_Site_p.L50_splice|TIAM2_uc003qqg.2_Splice_Site_p.L50_splice NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCATGCTCTGGTAAGTTCCTG 0.597 25 85 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4917519 4917519 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:4917519G>A uc003snj.1 - 2 425 c.252C>T c.(250-252)ACC>ACT p.T84T RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 84 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TGGAGGTGCCGGTGGCCAGGA 0.682 3 45 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378224 31378224 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:31378224G>A uc003tch.2 - 2 1012 c.659C>T c.(658-660)CCA>CTA p.P220L NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 220 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 CCCATGCCCTGGGGGAGTGGT 0.527 18 53 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42007296 42007296 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:42007296G>C uc011kbh.1 - 14 2420 c.2329C>G c.(2329-2331)CAC>GAC p.H777D GLI3_uc011kbg.1_Missense_Mutation_p.H718D NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 777 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 AGTTTTACGTGCTCCATCCAT 0.502 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 27 75 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42018290 42018290 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:42018290C>A uc011kbh.1 - 11 1646 c.1555G>T c.(1555-1557)GAC>TAC p.D519Y GLI3_uc011kbg.1_Missense_Mutation_p.D460Y NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 519 C2H2-type 2. negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTTGAGCAGTCCAGCCACCTG 0.448 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 12 40 --- --- --- --- PASS MDH2 4191 broad.mit.edu 37 7 75692906 75692906 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:75692906C>G uc003ueo.2 + 6 715 c.629C>G c.(628-630)TCT>TGT p.S210C MDH2_uc003uep.2_Missense_Mutation_p.S103C|MDH2_uc011kgh.1_Missense_Mutation_p.S168C NM_005918 NP_005909 P40926 MDHM_HUMAN mitochondrial malate dehydrogenase precursor 210 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 NADH(DB00157) CCCCTGATCTCTCAGGTACAC 0.562 3 62 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82538240 82538240 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:82538240G>A uc003uhx.2 - 8 13679 c.13390C>T c.(13390-13392)CCG>TCG p.P4464S PCLO_uc003uhv.2_Missense_Mutation_p.P4464S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4395 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AATCTTTCCGGCAGTTTTCGG 0.423 27 37 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92983068 92983068 + Silent SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:92983068A>G uc003umo.2 + 26 2708 c.2580A>G c.(2578-2580)GTA>GTG p.V860V CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.V830V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.V580V NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 860 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GAACTATTGTAGAAGGGTAAG 0.328 17 101 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94047860 94047860 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:94047860C>A uc003ung.1 + 33 2492 c.2021C>A c.(2020-2022)GCT>GAT p.A674D COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 674 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGAGATGGTGCTCGTGTGAGT 0.348 HNSCC(75;0.22) 13 49 --- --- --- --- PASS ZNF3 7551 broad.mit.edu 37 7 99669489 99669489 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:99669489G>C uc003usq.2 - 6 925 c.618C>G c.(616-618)AGC>AGG p.S206R ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.S206R|ZNF3_uc010lgj.2_Missense_Mutation_p.S170R|ZNF3_uc003uss.2_Missense_Mutation_p.S213R|ZNF3_uc003ust.3_Missense_Mutation_p.S206R NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 206 C2H2-type 1. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) TAAAGCTCTTGCTACATTCAT 0.438 10 152 --- --- --- --- PASS ZNF3 7551 broad.mit.edu 37 7 99669784 99669784 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:99669784G>T uc003usq.2 - 6 630 c.323C>A c.(322-324)TCA>TAA p.S108* ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Nonsense_Mutation_p.S108*|ZNF3_uc010lgj.2_Nonsense_Mutation_p.S72*|ZNF3_uc003uss.2_Nonsense_Mutation_p.S115*|ZNF3_uc003ust.3_Nonsense_Mutation_p.S108* NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 108 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) GACCCCATGTGATCTTGTGTC 0.413 10 192 --- --- --- --- PASS PUS7 54517 broad.mit.edu 37 7 105098242 105098242 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:105098242G>A uc003vcx.2 - 16 2200 c.1981C>T c.(1981-1983)CGC>TGC p.R661C PUS7_uc010lji.2_Missense_Mutation_p.R667C|PUS7_uc003vcy.2_Missense_Mutation_p.R661C|PUS7_uc003vcz.1_Missense_Mutation_p.R661C NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 661 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 ACTGCTCAGCGAAGCCAGGTT 0.448 9 149 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120737851 120737851 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:120737851G>A uc003vjq.3 + 6 1162 c.715G>A c.(715-717)GTG>ATG p.V239M C7orf58_uc003vjr.1_Missense_Mutation_p.V239M|C7orf58_uc003vjs.3_Missense_Mutation_p.V239M|C7orf58_uc003vjt.3_Missense_Mutation_p.V19M|C7orf58_uc010lkk.1_Missense_Mutation_p.V19M NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 239 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GAAGCCACGTGTGTGGAAACC 0.443 12 93 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122769455 122769455 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:122769455T>C uc003vkm.2 - 9 1038 c.1013A>G c.(1012-1014)CAA>CGA p.Q338R SLC13A1_uc010lks.2_Missense_Mutation_p.Q214R NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 338 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) CCCAAGCTTTTGGTATTCTTG 0.279 15 46 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123594320 123594320 + Silent SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:123594320C>G uc003vld.2 + 4 1098 c.696C>G c.(694-696)CCC>CCG p.P232P SPAM1_uc003vle.2_Silent_p.P232P|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.P232P|SPAM1_uc010lku.2_Silent_p.P232P NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 232 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ATAAGAAACCCGGTTACAATG 0.368 4 109 --- --- --- --- PASS ZNF800 168850 broad.mit.edu 37 7 127014786 127014786 + Nonsense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:127014786C>A uc003vlx.1 - 5 867 c.604G>T c.(604-606)GAA>TAA p.E202* ZNF800_uc003vlw.1_Nonsense_Mutation_p.E105*|ZNF800_uc003vly.1_Nonsense_Mutation_p.E202*|ZNF800_uc010lla.2_Nonsense_Mutation_p.E202* NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGTGCAACTTCATCTGTAACA 0.438 17 120 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142723348 142723348 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr7:142723348T>A uc003wcc.1 - 1 872 c.872A>T c.(871-873)GAC>GTC p.D291V NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 291 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TTTGACTTTGTCATTCCGAAG 0.458 21 55 --- --- --- --- PASS SGCZ 137868 broad.mit.edu 37 8 14095170 14095170 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:14095170G>T uc003wwq.2 - 4 1015 c.355C>A c.(355-357)CAG>AAG p.Q119K SGCZ_uc010lss.2_Missense_Mutation_p.Q72K NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 106 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGTCAGACTGTAAGACCAGC 0.373 42 118 --- --- --- --- PASS KIAA0146 23514 broad.mit.edu 37 8 48309125 48309125 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:48309125C>G uc003xqd.2 + 6 724 c.715C>G c.(715-717)CAG>GAG p.Q239E KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.Q239E|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.Q169E|KIAA0146_uc011ldd.1_Missense_Mutation_p.Q179E|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 239 0 Lung NSC(58;0.175) GCATACACCTCAGAAACCCAC 0.368 5 115 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52258417 52258417 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:52258417A>G uc003xqu.3 - 20 4093 c.3992T>C c.(3991-3993)ATG>ACG p.M1331T PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1331 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACTTAACTCCATATCCTTATC 0.373 7 13 --- --- --- --- PASS OPRK1 4986 broad.mit.edu 37 8 54142277 54142277 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:54142277G>A uc003xrh.1 - 3 1098 c.723C>T c.(721-723)ATC>ATT p.I241I OPRK1_uc003xri.1_Silent_p.I241I|OPRK1_uc010lyc.1_Silent_p.I152I NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 241 Helical; Name=5; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGACGATGATGATGAGGACAG 0.532 8 35 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72958748 72958748 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:72958748G>A uc003xza.2 - 17 2236 c.2061C>T c.(2059-2061)AAC>AAT p.N687N uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 687 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TTGAACTTACGTTGAGGGCTG 0.219 13 56 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72977745 72977745 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:72977745C>G uc003xza.2 - 4 668 c.493G>C c.(493-495)GGA>CGA p.G165R NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 165 Cytoplasmic (Potential).|ANK 4. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GCTGTGTTTCCATTTTCTCCT 0.338 6 23 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89053787 89053787 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:89053787A>G uc003yeb.3 - 10 2008 c.1726T>C c.(1726-1728)TGC>CGC p.C576R NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 576 Helical; (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 ACAAGGAGGCATAAGGCCAAG 0.473 16 70 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105263969 105263969 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:105263969C>T uc003yls.2 + 28 4266 c.4025C>T c.(4024-4026)CCA>CTA p.P1342L RIMS2_uc003ylp.2_Missense_Mutation_p.P1324L|RIMS2_uc003ylq.2_Missense_Mutation_p.P1138L|RIMS2_uc003ylr.2_Missense_Mutation_p.P1163L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1386 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTAGTAGATCCAACCTTGGCC 0.433 HNSCC(12;0.0054) 28 102 --- --- --- --- PASS TRHR 7201 broad.mit.edu 37 8 110100167 110100167 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:110100167C>A uc003ymz.3 + 1 442 c.426C>A c.(424-426)GCC>GCA p.A142A NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 142 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTTCCAGAGCCAAAAAGATTA 0.403 12 40 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113418827 113418827 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:113418827C>A uc003ynu.2 - 35 5894 c.5735G>T c.(5734-5736)GGA>GTA p.G1912V CSMD3_uc003yns.2_Missense_Mutation_p.G1114V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1872V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1808V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1912 Sushi 10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGCTATGGATCCATGGAGAAT 0.393 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 32 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113418828 113418828 + Nonsense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:113418828C>A uc003ynu.2 - 35 5893 c.5734G>T c.(5734-5736)GGA>TGA p.G1912* CSMD3_uc003yns.2_Nonsense_Mutation_p.G1114*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1872*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1808* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1912 Sushi 10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GCTATGGATCCATGGAGAATA 0.393 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 34 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118170057 118170057 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:118170057C>A uc003yoh.2 + 4 776 c.546C>A c.(544-546)TCC>TCA p.S182S SLC30A8_uc010mcz.2_Silent_p.S133S|SLC30A8_uc011lia.1_Silent_p.S133S|SLC30A8_uc003yog.2_Silent_p.S133S NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 182 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCATCGTTTCCAGCTGCGCAG 0.537 13 52 --- --- --- --- PASS EXT1 2131 broad.mit.edu 37 8 119122430 119122430 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:119122430C>G uc003yok.1 - 1 1629 c.856G>C c.(856-858)GTC>CTC p.V286L NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 286 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) CCGTTATGGACGTGATATAAG 0.512 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 13 56 --- --- --- --- PASS COLEC10 10584 broad.mit.edu 37 8 120116039 120116039 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:120116039G>A uc003yoo.2 + 5 444 c.347G>A c.(346-348)GGT>GAT p.G116D NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 116 collagen|cytoplasm mannose binding ovary(2)|skin(1) 3 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CATTTAAAAGGTACTGTCTGT 0.378 4 74 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131797705 131797705 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr8:131797705C>A uc003ytd.3 - 16 3333 c.3077G>T c.(3076-3078)CGA>CTA p.R1026L ADCY8_uc010mds.2_Missense_Mutation_p.R895L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1026 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCTTGAAATCGGTCTTCACC 0.507 HNSCC(32;0.087) 5 40 --- --- --- --- PASS AQP7 364 broad.mit.edu 37 9 33385656 33385656 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr9:33385656T>A uc003zst.2 - 7 906 c.734A>T c.(733-735)CAG>CTG p.Q245L SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.Q188L|AQP7_uc010mjs.2_Missense_Mutation_p.Q153L|AQP7_uc010mjt.2_Missense_Mutation_p.Q153L|AQP7_uc011lnx.1_Missense_Mutation_p.Q245L|AQP7_uc011lny.1_Missense_Mutation_p.Q244L|AQP7_uc003zss.3_Missense_Mutation_p.Q153L|AQP7_uc011lnz.1_Missense_Mutation_p.Q153L|AQP7_uc011loa.1_Silent_p.T113T NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 245 Extracellular (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCTGAAGACCTGTTTGCCCCA 0.597 3 62 --- --- --- --- PASS CLTA 1211 broad.mit.edu 37 9 36211679 36211679 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr9:36211679G>A uc003zzc.2 + 7 817 c.655G>A c.(655-657)GAC>AAC p.D219N CLTA_uc003zzd.2_Missense_Mutation_p.D207N|CLTA_uc003zze.2_Missense_Mutation_p.D189N|CLTA_uc011lpk.1_Missense_Mutation_p.D201N|CLTA_uc003zzf.1_Intron NM_007096 NP_009027 P09496 CLCA_HUMAN clathrin, light polypeptide A isoform b 219 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol structural molecule activity central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) CCGGCTGTGTGACTTTAACCC 0.557 4 49 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79996916 79996916 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr9:79996916G>A uc004akr.2 + 68 9362 c.9102G>A c.(9100-9102)GAG>GAA p.E3034E VPS13A_uc004akp.3_Silent_p.E3034E|VPS13A_uc004akq.3_Silent_p.E3034E|VPS13A_uc004aks.2_Silent_p.E2995E NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 3034 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CTGAAGTGGAGAGTCTGCGAC 0.338 7 34 --- --- --- --- PASS SLC46A2 57864 broad.mit.edu 37 9 115652604 115652604 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr9:115652604G>T uc004bgk.2 - 1 590 c.358C>A c.(358-360)CGC>AGC p.R120S NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 120 Helical; Name=3; (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 AGCCCGAGGCGGGAGAGCAGG 0.672 10 34 --- --- --- --- PASS LAMC3 10319 broad.mit.edu 37 9 133942459 133942459 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr9:133942459C>T uc004caa.1 + 14 2558 c.2460C>T c.(2458-2460)GCC>GCT p.A820A NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 820 Laminin EGF-like 8. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) ACCCCAATGCCGTGGGCAACT 0.637 3 35 --- --- --- --- PASS NUP214 8021 broad.mit.edu 37 9 134074366 134074366 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr9:134074366G>A uc004cag.2 + 29 5596 c.5485G>A c.(5485-5487)GCA>ACA p.A1829T NUP214_uc004cah.2_Missense_Mutation_p.A1819T|NUP214_uc004cai.2_Missense_Mutation_p.A1259T|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.A655T|NUP214_uc011mcf.1_Missense_Mutation_p.A606T|NUP214_uc010mzh.1_Missense_Mutation_p.A343T|NUP214_uc010mzi.1_Missense_Mutation_p.A343T NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1829 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CACCACAACAGCAGCAACCTC 0.502 T DEK|SET|ABL1 AML|T-ALL 10 46 --- --- --- --- PASS GATA3 2625 broad.mit.edu 37 10 8115917 8115917 + Silent SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:8115917G>T uc001ika.2 + 6 1820 c.1263G>T c.(1261-1263)CCG>CCT p.P421P GATA3_uc001ijz.2_Silent_p.P422P NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 421 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CGCCCACGCCGATGCACCCGC 0.647 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 11 21 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28229604 28229604 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:28229604T>A uc009xky.2 - 13 1972 c.1874A>T c.(1873-1875)AAA>ATA p.K625I ARMC4_uc010qds.1_Missense_Mutation_p.K150I|ARMC4_uc010qdt.1_Missense_Mutation_p.K317I|ARMC4_uc001itz.2_Missense_Mutation_p.K625I|ARMC4_uc010qdu.1_Missense_Mutation_p.K317I NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 625 ARM 3. binding ovary(4)|skin(2) 6 GATGGCTTCTTTATTCGTATG 0.532 46 48 --- --- --- --- PASS MTPAP 55149 broad.mit.edu 37 10 30625753 30625753 + Silent SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:30625753G>T uc001iva.3 - 4 822 c.759C>A c.(757-759)ACC>ACA p.T253T MTPAP_uc001ivb.3_Silent_p.T383T NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 253 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 TGAGGTTTCTGGTTTCATCTA 0.353 63 399 --- --- --- --- PASS ZNF248 57209 broad.mit.edu 37 10 38120707 38120707 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:38120707C>A uc001izd.1 - 6 2075 c.1576G>T c.(1576-1578)GGG>TGG p.G526W ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.G526W NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 526 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGGTTTTCCCACATTCATTA 0.403 25 54 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43325852 43325852 + Silent SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:43325852C>G uc001jaj.2 + 22 3958 c.3600C>G c.(3598-3600)CGC>CGG p.R1200R NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 1200 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.R1200G(1) ovary(2)|upper_aerodigestive_tract(1) 3 CCGTCATACGCGAGCCTCATG 0.512 3 46 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68687494 68687494 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:68687494T>A uc001jmz.1 + 2 1370 c.820T>A c.(820-822)TTC>ATC p.F274I CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.F274I NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 274 Extracellular (Potential).|LRR 9. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 ACCCAGTGTTTTCCAGTGTGT 0.458 54 68 --- --- --- --- PASS TYSND1 219743 broad.mit.edu 37 10 71899765 71899765 + Missense_Mutation SNP C T T rs148744638 byFrequency TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:71899765C>T uc001jqr.2 - 4 1770 c.1616G>A c.(1615-1617)CGT>CAT p.R539H TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_3'UTR|TYSND1_uc001jqt.2_RNA NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 539 proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 GTCCAGCTCACGGAGGCCACC 0.672 4 54 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75279616 75279616 + Nonsense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:75279616G>A uc001juo.2 - 17 2634 c.2617C>T c.(2617-2619)CAG>TAG p.Q873* USP54_uc010qkk.1_Nonsense_Mutation_p.Q55*|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Nonsense_Mutation_p.Q873* NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 873 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) TGCGACGGCTGCTGTGGTGAT 0.552 14 15 --- --- --- --- PASS ZMIZ1 57178 broad.mit.edu 37 10 81058301 81058301 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:81058301A>G uc001kaf.2 + 15 2202 c.1630A>G c.(1630-1632)ATC>GTC p.I544V ZMIZ1_uc001kag.2_Missense_Mutation_p.I420V NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 544 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCCGCCTGACATCAAGCCAAA 0.662 18 26 --- --- --- --- PASS IFIT3 3437 broad.mit.edu 37 10 91099423 91099423 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:91099423G>A uc001kgf.2 + 2 1240 c.1011G>A c.(1009-1011)GAG>GAA p.E337E LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.E337E NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 337 type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 ATCTCGCTGAGTTCCTGGAGA 0.423 21 35 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98819234 98819234 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:98819234G>A uc001kmw.2 - 11 1320 c.1068C>T c.(1066-1068)CTC>CTT p.L356L SLIT1_uc009xvh.1_Silent_p.L366L NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 356 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TCAGGGAGCGGAGGCCCTGGA 0.617 6 21 --- --- --- --- PASS CCDC147 159686 broad.mit.edu 37 10 106209899 106209899 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:106209899C>A uc001kyh.2 + 17 2581 c.2447C>A c.(2446-2448)ACC>AAC p.T816N NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 816 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAGAAACTTACCAATGAGCTC 0.328 16 86 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106918650 106918650 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:106918650C>A uc001kyi.1 + 11 1857 c.1630C>A c.(1630-1632)CCC>ACC p.P544T NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 544 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCCATTTTAGCCCTTCTGTTC 0.473 12 39 --- --- --- --- PASS C10orf46 143384 broad.mit.edu 37 10 120514170 120514170 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:120514170G>A uc001lds.1 - 1 589 c.105C>T c.(103-105)CCC>CCT p.P35P C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 35 Pro-rich. ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) GAGGTGGCAGGGGCTGCCGGA 0.701 11 18 --- --- --- --- PASS TIAL1 7073 broad.mit.edu 37 10 121347733 121347733 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:121347733C>A uc001lei.1 - 2 624 c.60G>T c.(58-60)GTG>GTT p.V20V TIAL1_uc001leh.1_5'UTR|TIAL1_uc001lej.1_Silent_p.V20V|TIAL1_uc001lek.1_5'UTR|TIAL1_uc009xzi.1_Intron|TIAL1_uc010qtb.1_5'UTR NM_003252 NP_003243 Q01085 TIAR_HUMAN TIA-1 related protein isoform 1 20 RRM 1. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) GGACTTCTGTCACATCTCTGG 0.378 18 29 --- --- --- --- PASS ATE1 11101 broad.mit.edu 37 10 123600614 123600614 + Silent SNP G A A rs150860078 byFrequency TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:123600614G>A uc001lfp.2 - 9 1222 c.1140C>T c.(1138-1140)GGC>GGT p.G380G ATE1_uc001lfq.2_Silent_p.G380G|ATE1_uc010qtr.1_Silent_p.G265G|ATE1_uc010qts.1_Silent_p.G284G|ATE1_uc010qtt.1_Silent_p.G373G|ATE1_uc001lfr.2_Silent_p.G81G|ATE1_uc009xzu.2_RNA NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 380 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CAGAGTAGACGCCCAAAGACA 0.363 3 4 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124390692 124390692 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr10:124390692G>A uc001lgk.1 + 46 5960 c.5854G>A c.(5854-5856)GAT>AAT p.D1952N DMBT1_uc001lgl.1_Missense_Mutation_p.D1942N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1324N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1952N|DMBT1_uc010qtx.1_Missense_Mutation_p.D672N|DMBT1_uc009yab.1_Missense_Mutation_p.D655N|DMBT1_uc009yac.1_Missense_Mutation_p.D246N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1952 SRCR 14. 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) CACCCTGGACGATGTAGAGTG 0.557 22 50 --- --- --- --- PASS NUP98 4928 broad.mit.edu 37 11 3794901 3794901 + Silent SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:3794901A>G uc001lyh.2 - 6 855 c.564T>C c.(562-564)TGT>TGC p.C188C NUP98_uc001lyi.2_Silent_p.C188C|NUP98_uc001lyj.1_Silent_p.C188C|NUP98_uc001lyk.1_Silent_p.C188C|NUP98_uc010qxv.1_Silent_p.C151C NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 188 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TAGCAGTAATACACTGGTGCT 0.363 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 7 25 --- --- --- --- PASS OR52N5 390075 broad.mit.edu 37 11 5799050 5799050 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:5799050C>T uc010qzn.1 - 1 815 c.815G>A c.(814-816)CGT>CAT p.R272H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TCCCCCAAAACGGTGGGCAAA 0.453 17 17 --- --- --- --- PASS OR2D3 120775 broad.mit.edu 37 11 6942355 6942355 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:6942355C>A uc010rav.1 + 1 123 c.123C>A c.(121-123)ATC>ATA p.I41I NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 41 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGACCCAGATCCTGCTATTTA 0.433 24 43 --- --- --- --- PASS OR5P3 120066 broad.mit.edu 37 11 7847314 7847314 + Missense_Mutation SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:7847314A>G uc010rbg.1 - 1 206 c.206T>C c.(205-207)GTA>GCA p.V69A NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCCAATGTCTACAAAGGCCAA 0.443 3 49 --- --- --- --- PASS ALX4 60529 broad.mit.edu 37 11 44286627 44286627 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:44286627G>A uc001myb.2 - 4 1117 c.1013C>T c.(1012-1014)CCC>CTC p.P338L NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 338 hair follicle development 0 AGAGCCAGGGGGGTGGGCATG 0.687 10 10 --- --- --- --- PASS OR4S1 256148 broad.mit.edu 37 11 48328546 48328546 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:48328546C>T uc010rhu.1 + 1 772 c.772C>T c.(772-774)CGT>TGT p.R258C NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CATGTACATTCGTCCCTCCAC 0.488 37 47 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861449 55861449 + Silent SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:55861449A>T uc010rix.1 + 1 666 c.666A>T c.(664-666)TCA>TCT p.S222S NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) TCATCATCTCAGCCATCCTGA 0.468 36 41 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56057959 56057959 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:56057959T>A uc010rje.1 - 1 580 c.580A>T c.(580-582)ATT>TTT p.I194F NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) ATGATTTCAATGTCGTATGTG 0.428 11 64 --- --- --- --- PASS PLAC1L 219990 broad.mit.edu 37 11 59814493 59814493 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:59814493C>G uc001nol.2 + 4 609 c.424C>G c.(424-426)CAG>GAG p.Q142E NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 142 extracellular region ovary(2)|skin(1) 3 TGCTGACTTTCAGACAACAGC 0.373 4 78 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61081072 61081072 + Silent SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:61081072G>T uc001nrc.3 - 16 2194 c.1968C>A c.(1966-1968)CCC>CCA p.P656P DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.P656P NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 656 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 AGATGACAGTGGGGCGGTCAG 0.483 NER 5 21 --- --- --- --- PASS ACTN3 89 broad.mit.edu 37 11 66330314 66330314 + Silent SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:66330314A>T uc001oio.1 + 21 2454 c.2436A>T c.(2434-2436)GCA>GCT p.A812A ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 812 EF-hand 2.|2; possibly ancestral. focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 ACCCCAACGCAGCTGGGGTGG 0.567 18 122 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68696686 68696686 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:68696686G>T uc001ook.1 + 8 1198 c.1096G>T c.(1096-1098)GAG>TAG p.E366* IGHMBP2_uc001ooj.1_RNA|IGHMBP2_uc001ool.1_5'Flank NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 366 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTTGCTGCCCGAGAGCTACTT 0.652 25 46 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78381535 78381535 + Missense_Mutation SNP C A A rs140341040 by1000genomes TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:78381535C>A uc001ozl.3 - 32 6318 c.5855G>T c.(5854-5856)CGC>CTC p.R1952L ODZ4_uc001ozk.3_Missense_Mutation_p.R177L|ODZ4_uc009yvb.1_Missense_Mutation_p.R536L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1952 YD 7.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 AGAAGAGAGGCGGTCATTCTT 0.542 12 34 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82879675 82879675 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:82879675G>A uc001ozx.3 + 8 2643 c.2298G>A c.(2296-2298)ACG>ACA p.T766T PCF11_uc010rsu.1_Silent_p.T897T NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 766 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ATGGCCCAACGAAGATGATTT 0.488 12 41 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92714750 92714750 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:92714750G>T uc001pdk.1 + 2 464 c.361G>T c.(361-363)GGC>TGC p.G121C NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 121 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CTTTGTGATGGGCCTGAGCGT 0.597 22 66 --- --- --- --- PASS ANKK1 255239 broad.mit.edu 37 11 113266902 113266902 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:113266902C>T uc001pny.2 + 5 890 c.796C>T c.(796-798)CGC>TGC p.R266C NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 266 Protein kinase. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CCTGATGAAACGCTGCTGGGA 0.622 11 61 --- --- --- --- PASS BLID 414899 broad.mit.edu 37 11 121986551 121986551 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:121986551C>T uc001pyf.2 - 1 373 c.80G>A c.(79-81)GGA>GAA p.G27E LOC399959_uc009zba.2_Intron NM_001001786 NP_001001786 Q8IZY5 BLID_HUMAN BRCC2 protein 27 apoptosis mitochondrion 0 Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101) CTCTATCCATCCTGTGTAGAG 0.468 OREG0021435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 35 --- --- --- --- PASS BSX 390259 broad.mit.edu 37 11 122852332 122852332 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:122852332C>A uc010rzs.1 - 1 48 c.48G>T c.(46-48)AGG>AGT p.R16S NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 16 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) AGGATGTGGGCCTCTGAGAAG 0.607 4 7 --- --- --- --- PASS ESAM 90952 broad.mit.edu 37 11 124626148 124626148 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr11:124626148C>A uc001qav.3 - 4 735 c.562G>T c.(562-564)GAT>TAT p.D188Y ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.D115Y|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.D188Y NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 188 Extracellular (Potential).|Ig-like C2-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) AGCTGCCGATCCCACTGGTAT 0.572 7 12 --- --- --- --- PASS CLECL1 160365 broad.mit.edu 37 12 9885563 9885563 + Missense_Mutation SNP A C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:9885563A>C uc001qwj.2 - 1 298 c.298T>G c.(298-300)TTT>GTT p.F100V NM_172004 NP_742001 Q8IZS7 CLCL1_HUMAN type II transmembrane protein DCAL1 100 Extracellular (Potential). integral to membrane|plasma membrane sugar binding 0 TGAAGTGGAAACGCGAGTTCT 0.398 14 85 --- --- --- --- PASS TAS2R9 50835 broad.mit.edu 37 12 10962127 10962127 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:10962127A>T uc001qyx.2 - 1 641 c.548T>A c.(547-549)CTG>CAG p.L183Q TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 183 Helical; Name=5; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 CCCCAGGTTCAGGGTTAACTG 0.393 90 51 --- --- --- --- PASS APOLD1 81575 broad.mit.edu 37 12 12940477 12940477 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:12940477T>C uc001rau.3 + 2 815 c.731T>C c.(730-732)CTG>CCG p.L244P DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_Missense_Mutation_p.L213P NM_001130415 NP_001123887 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 isoform 1 244 Potential. angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding ovary(1) 1 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) ACCGGGGCTCTGGACGAACTC 0.637 74 37 --- --- --- --- PASS HOXC10 3226 broad.mit.edu 37 12 54383205 54383205 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:54383205T>C uc001sen.2 + 2 1102 c.1004T>C c.(1003-1005)CTG>CCG p.L335P uc001seo.2_5'Flank|MIR196A2_hsa-mir-196a-2|MI0000279_5'Flank NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 335 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 ATCCGGGAACTGACCTCCAAT 0.318 OREG0021882 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 13 --- --- --- --- PASS R3HDM2 22864 broad.mit.edu 37 12 57663634 57663634 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:57663634C>T uc009zpm.1 - 13 1481 c.1446G>A c.(1444-1446)ACG>ACA p.T482T R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.T177T|R3HDM2_uc001snr.2_Silent_p.T209T|R3HDM2_uc001sns.2_Silent_p.T482T|R3HDM2_uc001snt.2_Silent_p.T496T|R3HDM2_uc009zpn.1_Silent_p.T105T NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 482 Gln-rich. nucleus nucleic acid binding ovary(2) 2 GGGGCTGACCCGTGGAAGCCA 0.572 24 41 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57864776 57864776 + Silent SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:57864776G>T uc001snx.2 + 12 2331 c.2253G>T c.(2251-2253)CTG>CTT p.L751L GLI1_uc009zpq.2_Silent_p.L623L NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 751 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CAGGCTCTCTGCCTCTTGGGC 0.592 37 49 --- --- --- --- PASS WIF1 11197 broad.mit.edu 37 12 65461562 65461562 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:65461562G>T uc001ssk.2 - 5 692 c.547C>A c.(547-549)CCA>ACA p.P183T NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 183 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CACCCGCCTGGGCACTCAGCT 0.488 T HMGA2 pleomorphic salivary gland adenoma 11 17 --- --- --- --- PASS WIF1 11197 broad.mit.edu 37 12 65461563 65461563 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:65461563G>T uc001ssk.2 - 5 691 c.546C>A c.(544-546)TGC>TGA p.C182* NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 182 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) ACCCGCCTGGGCACTCAGCTT 0.483 T HMGA2 pleomorphic salivary gland adenoma 12 17 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400650 78400650 + Silent SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:78400650T>A uc001syp.2 + 8 1505 c.1332T>A c.(1330-1332)CCT>CCA p.P444P NAV3_uc001syo.2_Silent_p.P444P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 444 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAGTGTCACCTAAGTTGGCCC 0.408 HNSCC(70;0.22) 23 74 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85450481 85450481 + Nonsense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:85450481C>A uc001tac.2 + 8 2021 c.1910C>A c.(1909-1911)TCA>TAA p.S637* LRRIQ1_uc001tab.1_Nonsense_Mutation_p.S637*|LRRIQ1_uc001taa.1_Nonsense_Mutation_p.S612* NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 637 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GAAATTTATTCAAAATCCAAA 0.299 13 22 --- --- --- --- PASS LUM 4060 broad.mit.edu 37 12 91498030 91498030 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:91498030C>A uc001tbm.2 - 3 1318 c.929G>T c.(928-930)CGT>CTT p.R310L LUM_uc001tbn.2_RNA NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 310 LRR 11. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 GCCATCCAAACGCAAATGCTT 0.373 9 36 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94618035 94618035 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:94618035C>T uc001tdc.2 + 7 1983 c.1734C>T c.(1732-1734)TTC>TTT p.F578F NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 578 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TGTTCTCCTTCGGTTCTTGGA 0.373 13 118 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124335548 124335548 + Silent SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr12:124335548T>A uc001uft.3 + 34 5887 c.5862T>A c.(5860-5862)CCT>CCA p.P1954P NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1954 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTTCAGGCCTGTGGTCGTGA 0.632 3 51 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20012252 20012252 + Missense_Mutation SNP C T T rs140738972 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr13:20012252C>T uc001umd.2 - 15 1226 c.1015G>A c.(1015-1017)GAA>AAA p.E339K TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.E228K|TPTE2_uc001ume.2_Missense_Mutation_p.E262K|TPTE2_uc009zzm.2_Missense_Mutation_p.E10K|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.E10K NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 339 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAAATATTTCGGAGGCAATA 0.284 19 20 --- --- --- --- PASS SPG20 23111 broad.mit.edu 37 13 36909772 36909772 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr13:36909772G>C uc001uvn.2 - 3 466 c.196C>G c.(196-198)CAC>GAC p.H66D SPG20_uc010ten.1_Missense_Mutation_p.H66D|SPG20_uc001uvm.2_Missense_Mutation_p.H66D|SPG20_uc001uvo.2_Missense_Mutation_p.H66D|SPG20_uc001uvq.2_Missense_Mutation_p.H66D|SPG20_uc001uvp.2_Missense_Mutation_p.H66D NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 66 MIT. cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) GGACCTGTGTGTTCAGACTCT 0.433 33 35 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329160 88329160 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr13:88329160A>T uc001vln.2 + 2 1736 c.1517A>T c.(1516-1518)AAC>ATC p.N506I SLITRK5_uc010tic.1_Missense_Mutation_p.N265I NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 506 Extracellular (Potential).|LRR 11. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGGTCCCAAACCTCCAGCTG 0.532 27 47 --- --- --- --- PASS GPR180 160897 broad.mit.edu 37 13 95273375 95273375 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr13:95273375G>C uc001vly.2 + 6 858 c.780G>C c.(778-780)TTG>TTC p.L260F GPR180_uc001vlz.2_Missense_Mutation_p.L159F|GPR180_uc010afi.2_Missense_Mutation_p.L21F NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 260 Helical; (Potential). integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) ACTTACTTTTGAGTCTATGCA 0.393 6 62 --- --- --- --- PASS LRP10 26020 broad.mit.edu 37 14 23342530 23342530 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr14:23342530C>T uc001whd.2 + 3 643 c.90C>T c.(88-90)GAC>GAT p.D30D LRP10_uc001whe.2_5'Flank NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 30 CUB 1.|Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CTTGTGAGGACCCCCCAGCAG 0.612 OREG0022588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 49 --- --- --- --- PASS NOVA1 4857 broad.mit.edu 37 14 26917512 26917512 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr14:26917512C>A uc001wpy.2 - 5 1495 c.1177G>T c.(1177-1179)GCT>TCT p.A393S NOVA1_uc001wpz.2_Missense_Mutation_p.A369S|NOVA1_uc001wqa.2_Missense_Mutation_p.A271S NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 396 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) TTGGTTGCAGCAGTAGCAGCA 0.512 3 19 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975233 44975233 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr14:44975233G>A uc001wvn.2 - 1 1267 c.958C>T c.(958-960)CCT>TCT p.P320S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 320 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TCTTCAGCAGGTGGAGGCTGA 0.507 13 45 --- --- --- --- PASS KTN1 3895 broad.mit.edu 37 14 56139935 56139935 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr14:56139935T>C uc001xcb.2 + 41 4035 c.3733T>C c.(3733-3735)TAT>CAT p.Y1245H KTN1_uc001xce.2_Intron|KTN1_uc001xcc.2_Missense_Mutation_p.Y1245H|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Intron|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.2_Intron|KTN1_uc010trc.1_Intron|KTN1_uc001xcg.2_Intron NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 1245 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TGATGATTCATATTCTGAAGC 0.368 T RET papillary thryoid 4 18 --- --- --- --- PASS SERPINA3 12 broad.mit.edu 37 14 95081224 95081224 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr14:95081224T>A uc001ydp.2 + 2 525 c.446T>A c.(445-447)CTG>CAG p.L149Q SERPINA3_uc001ydo.3_Missense_Mutation_p.L174Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.L149Q|SERPINA3_uc001yds.2_Missense_Mutation_p.L149Q|SERPINA3_uc010avg.2_Missense_Mutation_p.L149Q NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 149 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) CAACTCAGTCTGCTGGACAGG 0.547 9 29 --- --- --- --- PASS SNRPN 6638 broad.mit.edu 37 15 25223391 25223391 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:25223391G>T uc001ywp.1 + 12 1501 c.611G>T c.(610-612)GGG>GTG p.G204V SNRPN_uc001ywq.1_Missense_Mutation_p.G204V|SNRPN_uc001ywr.1_Missense_Mutation_p.G204V|SNRPN_uc001yws.1_Missense_Mutation_p.G204V|SNRPN_uc001ywt.1_Missense_Mutation_p.G204V|SNRPN_uc001ywv.1_Missense_Mutation_p.G207V|SNRPN_uc001yww.1_Missense_Mutation_p.G204V|SNRPN_uc001ywx.1_Missense_Mutation_p.G204V|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 204 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CCACCAATTGGGCTTCCCCCT 0.537 Prader-Willi_syndrome 17 75 --- --- --- --- PASS GANC 2595 broad.mit.edu 37 15 42644329 42644329 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:42644329A>T uc001zpi.2 + 24 3051 c.2737A>T c.(2737-2739)ATC>TTC p.I913F CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_5'Flank|CAPN3_uc010udg.1_5'Flank NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 913 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GGAGGTCCGCATCATATGACA 0.493 4 19 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51839432 51839432 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:51839432C>A uc002abf.2 - 7 966 c.741G>T c.(739-741)ATG>ATT p.M247I DMXL2_uc010ufy.1_Missense_Mutation_p.M247I|DMXL2_uc010bfa.2_Missense_Mutation_p.M247I NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 247 WD 3. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CTAACCTGGGCATATACTTGC 0.318 5 33 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 54025310 54025310 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:54025310G>C uc002acj.2 - 2 79 c.37C>G c.(37-39)CAG>GAG p.Q13E WDR72_uc010bfi.1_Missense_Mutation_p.Q13E NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 13 lung(1)|skin(1) 2 all cancers(107;0.0511) GGGGCCTTCTGTCCCCAGAGT 0.498 11 44 --- --- --- --- PASS CCPG1 9236 broad.mit.edu 37 15 55669237 55669237 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:55669237C>T uc002acv.1 - 5 529 c.364G>A c.(364-366)GTT>ATT p.V122I CCPG1_uc002acy.2_Missense_Mutation_p.V122I|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Missense_Mutation_p.V122I|CCPG1_uc010bfk.1_Missense_Mutation_p.V122I|CCPG1_uc002acz.1_Missense_Mutation_p.V122I NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 122 Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) ACAATGACAACTTCTTGATTT 0.398 12 53 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86123578 86123578 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:86123578C>T uc002blv.1 + 7 2449 c.2279C>T c.(2278-2280)TCA>TTA p.S760L AKAP13_uc002blt.1_Missense_Mutation_p.S760L|AKAP13_uc002blu.1_Missense_Mutation_p.S760L|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 760 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GAGGTGGTTTCACATCCACAT 0.428 5 40 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90347814 90347814 + Missense_Mutation SNP G T T rs17240268 byFrequency TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr15:90347814G>T uc002bop.3 - 5 1224 c.932C>A c.(931-933)GCG>GAG p.A311E NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 311 Extracellular.|Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCCGTGGCCCGCCGCAATGGC 0.602 3 59 --- --- --- --- PASS DECR2 26063 broad.mit.edu 37 16 457540 457540 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:457540G>A uc002chb.2 + 4 423 c.317G>A c.(316-318)AGA>AAA p.R106K DECR2_uc002chc.2_Missense_Mutation_p.R22K|DECR2_uc010bqv.2_Missense_Mutation_p.R22K|DECR2_uc002chd.2_Missense_Mutation_p.R22K|DECR2_uc002che.1_RNA NM_020664 NP_065715 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2 106 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding 0 Hepatocellular(16;0.00015) GAGTTTGGCAGAATCGACATT 0.607 13 60 --- --- --- --- PASS TSC2 7249 broad.mit.edu 37 16 2129556 2129556 + Splice_Site SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:2129556A>T uc002con.2 + 29 3391 c.3285_splice c.e29-2 p.S1095_splice TSC2_uc010bsd.2_Splice_Site_p.S1095_splice|TSC2_uc002coo.2_Splice_Site_p.S1051_splice|TSC2_uc010uvv.1_Splice_Site_p.S1015_splice|TSC2_uc010uvw.1_Splice_Site_p.S1003_splice|TSC2_uc002cop.2_Splice_Site_p.S851_splice NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) TTCTCTTCTCAGCTCCAGCCC 0.692 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 6 5 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19501870 19501870 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:19501870C>T uc002dgc.3 + 18 3476 c.2727C>T c.(2725-2727)TTC>TTT p.F909F TMC5_uc010vaq.1_Silent_p.F857F|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Silent_p.F909F|TMC5_uc002dgd.1_Silent_p.F663F|TMC5_uc002dge.3_Silent_p.F663F|TMC5_uc002dgf.3_Silent_p.F592F|TMC5_uc002dgg.3_Silent_p.F550F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 909 Helical; (Potential). integral to membrane skin(1) 1 ACTTCTTTTTCATCCTCACCC 0.517 5 111 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20693760 20693760 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:20693760G>A uc002dhm.1 - 3 497 c.429C>T c.(427-429)ATC>ATT p.I143I ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.I143I NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 143 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 CCTTCAACAGGATGGTCGCAG 0.463 8 19 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21011702 21011702 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:21011702G>T uc010vbe.1 - 43 6265 c.6265C>A c.(6265-6267)CTC>ATC p.L2089I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2089 AAA 3 (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) GGAAGGTGGAGAAGGAAGTTG 0.483 16 37 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48149466 48149466 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:48149466C>T uc002efc.1 - 13 2195 c.1849G>A c.(1849-1851)GTC>ATC p.V617I ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 617 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TCGGAGTAGACAGCGCGGGCC 0.627 7 40 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61823381 61823381 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:61823381G>T uc002eog.1 - 8 1535 c.1283C>A c.(1282-1284)TCC>TAC p.S428Y CDH8_uc002eoh.2_Missense_Mutation_p.S197Y NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 428 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCGGTCGATGGAAAACCTACA 0.423 14 35 --- --- --- --- PASS SMPD3 55512 broad.mit.edu 37 16 68404963 68404963 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:68404963C>T uc002ewa.2 - 3 1544 c.1122G>A c.(1120-1122)TTG>TTA p.L374L SMPD3_uc010cfe.2_Silent_p.L374L|SMPD3_uc010vlh.1_Silent_p.L374L NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 374 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GCTGCTCTTTCAATTTGGTGG 0.602 7 25 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 71220757 71220757 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:71220757C>G uc002ezr.2 - 2 170 c.42G>C c.(40-42)CAG>CAC p.Q14H HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.Q14H|HYDIN_uc010vmc.1_Missense_Mutation_p.Q31H|HYDIN_uc010vmd.1_Missense_Mutation_p.Q41H|HYDIN_uc002ezw.3_Missense_Mutation_p.Q31H NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 14 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCAATCCCATCTGAACAGCCC 0.378 11 80 --- --- --- --- PASS PHLPP2 23035 broad.mit.edu 37 16 71713410 71713410 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr16:71713410A>T uc002fax.2 - 6 925 c.919T>A c.(919-921)TCC>ACC p.S307T PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.S307T|PHLPP2_uc002fay.1_Missense_Mutation_p.S307T NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 307 LRR 3. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 TTATTATGGGACAAGTTCAGG 0.383 6 55 --- --- --- --- PASS OR3A1 4994 broad.mit.edu 37 17 3195412 3195412 + Silent SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:3195412A>G uc002fvh.1 - 1 465 c.465T>C c.(463-465)GCT>GCC p.A155A NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 CGTTGGTGAAAGCACAAGCCC 0.577 16 70 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5035697 5035697 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:5035697G>A uc002gau.1 + 12 2392 c.162G>A c.(160-162)ACG>ACA p.T54T USP6_uc002gav.1_Silent_p.T54T|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Silent_p.T115T|uc002gay.1_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 54 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 ACAGTGAGACGGAGCTGCCTC 0.662 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 17 75 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G A A rs121912651 TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 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) 14 8 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7696114 7696114 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:7696114G>C uc002giu.1 + 46 7299 c.7285G>C c.(7285-7287)GTT>CTT p.V2429L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2429 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGCCCAGAGCGTTCTGCAGTC 0.632 9 26 --- --- --- --- PASS TRIM16 10626 broad.mit.edu 37 17 15516031 15516031 + Nonsense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:15516031C>T uc002gor.1 - 11 2373 c.2036G>A c.(2035-2037)TGG>TAG p.W679* CDRT1_uc002gov.3_Nonsense_Mutation_p.W369* O95361 TRI16_HUMAN SubName: Full=Putative uncharacterized protein; Flags: Fragment; Error:Variant_position_missing_in_O95361_after_alignment histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) TCTCAACTTCCACTTCGGATG 0.463 26 161 --- --- --- --- PASS FAM27L 284123 broad.mit.edu 37 17 21826125 21826125 + RNA SNP T G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:21826125T>G uc002gyz.2 + 2 c.235T>G NR_028336 Homo sapiens family with sequence similarity 27-like, mRNA (cDNA clone MGC:35151 IMAGE:5169482), complete cds. 0 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) CAGCCAAGGATAAAAGCCCCA 0.527 17 25 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29486068 29486068 + Missense_Mutation SNP C G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:29486068C>G uc002hgg.2 + 3 578 c.245C>G c.(244-246)TCT>TGT p.S82C NF1_uc002hge.1_Missense_Mutation_p.S82C|NF1_uc002hgf.1_Missense_Mutation_p.S82C|NF1_uc002hgh.2_Missense_Mutation_p.S82C|NF1_uc010csn.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 82 S -> F (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(5)|p.?(4) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTATATCTCTCTCAGTTGATT 0.328 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 3 53 --- --- --- --- PASS RHOT1 55288 broad.mit.edu 37 17 30519306 30519306 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:30519306C>A uc002hgz.2 + 9 866 c.627C>A c.(625-627)CTC>CTA p.L209L RHOT1_uc002hgw.2_Silent_p.L209L|RHOT1_uc002hgy.2_Silent_p.L209L|RHOT1_uc002hha.2_Silent_p.L82L|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Silent_p.L82L|RHOT1_uc010wby.1_Silent_p.L209L|RHOT1_uc002hhb.2_Silent_p.L188L|RHOT1_uc002hgv.2_Silent_p.L209L NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 209 EF-hand 1.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) ATGCTGAACTCAACTTCTTTC 0.299 8 56 --- --- --- --- PASS IKZF3 22806 broad.mit.edu 37 17 37947744 37947744 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:37947744G>A uc002hsu.2 - 5 579 c.517C>T c.(517-519)CCT>TCT p.P173S IKZF3_uc002htd.2_Missense_Mutation_p.P139S|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.P139S|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.P173S|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.P173S|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.P173S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.P86S|IKZF3_uc002htc.2_Intron NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 173 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CACTTAAAAGGTTTTTCCCCT 0.458 23 135 --- --- --- --- PASS KRTAP1-3 81850 broad.mit.edu 37 17 39190888 39190888 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:39190888C>A uc002hvv.2 - 1 220 c.186G>T c.(184-186)CAG>CAT p.Q62H NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 72 Missing (in allele KAP1.9). extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCAGCTTGGCTGGCAGCAAC 0.612 17 54 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40318470 40318470 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:40318470C>A uc002hzb.2 - 10 2018 c.1685G>T c.(1684-1686)AGG>ATG p.R562M NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 562 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CAGGCAGCCCCTGCTCGCTGC 0.607 7 28 --- --- --- --- PASS SPATA20 64847 broad.mit.edu 37 17 48631635 48631635 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:48631635G>A uc002irf.2 + 14 2074 c.1933G>A c.(1933-1935)GCC>ACC p.A645T SPATA20_uc002irc.2_Missense_Mutation_p.A312T|SPATA20_uc002ire.2_Missense_Mutation_p.A601T|SPATA20_uc002ird.2_Missense_Mutation_p.A661T|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 645 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) AGAGCCCAGCGCCAATTCCGT 0.612 3 30 --- --- --- --- PASS RNF43 54894 broad.mit.edu 37 17 56435050 56435050 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:56435050G>A uc002iwf.2 - 8 4043 c.2087C>T c.(2086-2088)GCA>GTA p.A696V RNF43_uc010wnv.1_Missense_Mutation_p.A655V|RNF43_uc002iwh.3_Missense_Mutation_p.A696V|RNF43_uc002iwg.3_Missense_Mutation_p.A696V|RNF43_uc010dcw.2_Missense_Mutation_p.A569V NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 696 Pro-rich.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAAGGGGTGTGCCTCTGGGGA 0.592 33 89 --- --- --- --- PASS BCAS3 54828 broad.mit.edu 37 17 59112076 59112076 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:59112076G>T uc002iyv.3 + 18 1841 c.1732G>T c.(1732-1734)GAA>TAA p.E578* BCAS3_uc010wow.1_Nonsense_Mutation_p.E350*|BCAS3_uc002iyu.3_Nonsense_Mutation_p.E563*|BCAS3_uc002iyw.3_Nonsense_Mutation_p.E559*|BCAS3_uc002iyy.3_Nonsense_Mutation_p.E334*|BCAS3_uc002iyz.3_Nonsense_Mutation_p.E132*|BCAS3_uc002iza.3_Nonsense_Mutation_p.E117* NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 578 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GATGGGCGGAGAATTTTGTGT 0.338 25 53 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61607532 61607532 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:61607532G>A uc002jay.2 + 3 468 c.388G>A c.(388-390)GAG>AAG p.E130K KCNH6_uc002jax.1_Missense_Mutation_p.E130K|KCNH6_uc010wpl.1_Missense_Mutation_p.E7K|KCNH6_uc010wpm.1_Missense_Mutation_p.E130K|KCNH6_uc002jaz.1_Missense_Mutation_p.E130K NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 130 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TCTCAACTTCGAGGACCTGGC 0.622 24 37 --- --- --- --- PASS CCDC47 57003 broad.mit.edu 37 17 61838333 61838333 + Nonsense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:61838333T>A uc002jbs.3 - 6 1012 c.676A>T c.(676-678)AAG>TAG p.K226* CCDC47_uc010ddx.2_Nonsense_Mutation_p.K226*|CCDC47_uc002jbt.2_Nonsense_Mutation_p.K226* NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 226 integral to membrane protein binding 0 TCTTGTCTCTTGAGGAACTGA 0.398 4 17 --- --- --- --- PASS FASN 2194 broad.mit.edu 37 17 80044224 80044224 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr17:80044224G>A uc002kdu.2 - 22 3755 c.3638C>T c.(3637-3639)CCT>CTT p.P1213L FASN_uc002kdw.1_Missense_Mutation_p.P429L NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1213 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCTGAGCAGAGGGTCCTCTGG 0.662 4 7 --- --- --- --- PASS KCTD1 284252 broad.mit.edu 37 18 24035721 24035721 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr18:24035721C>T uc002kvw.2 - 5 1320 c.760G>A c.(760-762)GAG>AAG p.E254K KCTD1_uc010xbj.1_Missense_Mutation_p.E862K|KCTD1_uc010xbk.1_Missense_Mutation_p.E254K|KCTD1_uc002kvy.2_3'UTR NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 254 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) TCCAGAGGCTCTTGCTTTATC 0.498 167 107 --- --- --- --- PASS MYO5B 4645 broad.mit.edu 37 18 47431074 47431074 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr18:47431074G>A uc002leb.2 - 20 2827 c.2539C>T c.(2539-2541)CGG>TGG p.R847W MYO5B_uc002lea.2_5'Flank NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 847 IQ 3.|Arg-rich.|IQ 4. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) AACATGGCCCGGGTGAAGGCC 0.587 4 44 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55020255 55020255 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr18:55020255C>A uc002lgn.2 + 1 535 c.178C>A c.(178-180)CGG>AGG p.R60R NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 60 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) CGCGGGATTCCGGTGAGTGCG 0.597 3 16 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70417720 70417720 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr18:70417720A>T uc002lkw.2 - 9 1402 c.1118T>A c.(1117-1119)GTC>GAC p.V373D NETO1_uc002lkx.1_Missense_Mutation_p.V372D|NETO1_uc002lky.1_Missense_Mutation_p.V373D NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 373 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TTTCCTTTGGACATACTTTTT 0.453 8 43 --- --- --- --- PASS LPPR3 79948 broad.mit.edu 37 19 814740 814740 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:814740G>T uc002lpx.1 - 6 673 c.609C>A c.(607-609)TTC>TTA p.F203L LPPR3_uc010dru.1_Missense_Mutation_p.F115L|LPPR3_uc002lpw.1_Missense_Mutation_p.F203L|LPPR3_uc002lpy.1_5'UTR NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 203 integral to membrane phosphatidate phosphatase activity 0 GCTGGGACGGGAAGGTCTTCC 0.672 10 7 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10476261 10476261 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:10476261C>T uc002moc.3 - 7 1321 c.943G>A c.(943-945)GAG>AAG p.E315K TYK2_uc010dxe.2_Missense_Mutation_p.E130K|TYK2_uc002mod.2_Missense_Mutation_p.E315K NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 315 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ACCAGCACCTCGTGGGTTGGG 0.682 4 51 --- --- --- --- PASS QTRT1 81890 broad.mit.edu 37 19 10822892 10822892 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:10822892G>A uc002mpr.2 + 6 727 c.702G>A c.(700-702)GAG>GAA p.E234E DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 234 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GCGGGGGTGAGAGCAAGTCGC 0.617 14 41 --- --- --- --- PASS TNPO2 30000 broad.mit.edu 37 19 12813658 12813658 + Missense_Mutation SNP T C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:12813658T>C uc002muo.2 - 20 2469 c.2284A>G c.(2284-2286)AAG>GAG p.K762E TNPO2_uc002mup.2_Missense_Mutation_p.K854E|TNPO2_uc002muq.2_Missense_Mutation_p.K762E|TNPO2_uc002mur.2_Missense_Mutation_p.K762E NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 762 HEAT 13. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 AGCAGTGTCTTGGGTGTGTTG 0.607 35 108 --- --- --- --- PASS NFIX 4784 broad.mit.edu 37 19 13136140 13136140 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:13136140G>A uc010xmx.1 + 2 410 c.357G>A c.(355-357)AAG>AAA p.K119K NFIX_uc002mwd.2_Silent_p.K111K|NFIX_uc002mwe.2_Silent_p.K103K|NFIX_uc002mwf.2_Silent_p.K114K|NFIX_uc002mwg.1_Silent_p.K110K Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 111 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CCGACCAGAAGGGCAAGATCC 0.617 17 20 --- --- --- --- PASS LPHN1 22859 broad.mit.edu 37 19 14263176 14263176 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:14263176G>A uc010xnn.1 - 22 3905 c.3609C>T c.(3607-3609)CTC>CTT p.L1203L LPHN1_uc010xno.1_Silent_p.L1198L|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 1203 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 ACTCGGCGATGAGGGTGTTGT 0.612 8 60 --- --- --- --- PASS NOTCH3 4854 broad.mit.edu 37 19 15303038 15303038 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:15303038G>T uc002nan.2 - 4 488 c.412C>A c.(412-414)CCC>ACC p.P138T NOTCH3_uc002nao.1_Missense_Mutation_p.P138T NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 138 Extracellular (Potential).|EGF-like 3. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGTCCATCGGGCCCCACTGAG 0.687 3 7 --- --- --- --- PASS GLT25D1 79709 broad.mit.edu 37 19 17691562 17691562 + Silent SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:17691562C>T uc002nhc.1 + 11 1461 c.1449C>T c.(1447-1449)CGC>CGT p.R483R GLT25D1_uc010eax.1_Silent_p.R211R|GLT25D1_uc010eay.1_Silent_p.R12R NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 483 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 CTGTGCCTCGCGTGAGGAACC 0.657 15 20 --- --- --- --- PASS GLT25D1 79709 broad.mit.edu 37 19 17692173 17692173 + Nonsense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:17692173C>T uc002nhc.1 + 12 1801 c.1789C>T c.(1789-1791)CAG>TAG p.Q597* GLT25D1_uc010eay.1_Nonsense_Mutation_p.Q126* NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 597 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 GATGCGGGAGCAGCAGGCACT 0.602 17 40 --- --- --- --- PASS GPATCH1 55094 broad.mit.edu 37 19 33592443 33592443 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:33592443G>A uc002nug.1 + 9 1357 c.1043G>A c.(1042-1044)GGA>GAA p.G348E NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 348 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) ATTTTGGATGGATTTTCCTTG 0.303 7 63 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36333109 36333109 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:36333109G>A uc002oby.2 - 19 2580 c.2580C>T c.(2578-2580)ACC>ACT p.T860T NPHS1_uc010eem.1_5'Flank NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 860 Ig-like C2-type 8.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCAGTGGAGGGTGGCAGAAC 0.607 6 7 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37644505 37644505 + Missense_Mutation SNP T A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:37644505T>A uc002ofo.1 - 5 527 c.296A>T c.(295-297)GAG>GTG p.E99V ZNF585A_uc002ofm.1_Missense_Mutation_p.E44V|ZNF585A_uc002ofn.1_Missense_Mutation_p.E44V NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCATAATTTCTCTCCTGTTGG 0.313 15 137 --- --- --- --- PASS CYP2A13 1553 broad.mit.edu 37 19 41597756 41597756 + Silent SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:41597756G>T uc002opt.2 + 5 783 c.774G>T c.(772-774)ACG>ACT p.T258T NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 258 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) ACCAGCGCACGCTGGATCCCA 0.587 28 20 --- --- --- --- PASS ZNF180 7733 broad.mit.edu 37 19 44981071 44981071 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:44981071G>C uc002ozf.3 - 5 1909 c.1627C>G c.(1627-1629)CAC>GAC p.H543D ZNF180_uc002ozh.3_Missense_Mutation_p.H200D|ZNF180_uc002ozi.3_Missense_Mutation_p.H516D|ZNF180_uc002ozg.3_Missense_Mutation_p.H542D|ZNF180_uc010ejm.2_Missense_Mutation_p.H518D NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 543 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) TCTCCAGTGTGAGTTCTTTGA 0.428 6 83 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58189579 58189579 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr19:58189579C>A uc002qpu.2 + 5 1305 c.608C>A c.(607-609)ACT>AAT p.T203N NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 203 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCGAAAACTACTCGAGTAAAT 0.393 3 32 --- --- --- --- PASS MYL9 10398 broad.mit.edu 37 20 35177629 35177629 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr20:35177629G>T uc002xfl.1 + 4 590 c.496G>T c.(496-498)GGC>TGC p.G166C uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.G112C NM_006097 NP_006088 P24844 MYL9_HUMAN myosin regulatory light chain 9 isoform a 166 EF-hand 3. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle 0 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCTCAAACATGGCGCCAAGGA 0.602 5 35 --- --- --- --- PASS GTSF1L 149699 broad.mit.edu 37 20 42355044 42355044 + Nonsense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr20:42355044G>T uc002xld.2 - 1 599 c.291C>A c.(289-291)TGC>TGA p.C97* GTSF1L_uc002xlc.2_Intron NM_176791 NP_789761 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like isoform 1 97 metal ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGCTGGGAAGGCAGGGTGAGA 0.493 14 36 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49218870 49218870 + Silent SNP C A A rs78064464 byFrequency TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr20:49218870C>A uc002xvm.2 - 13 1704 c.1386G>T c.(1384-1386)CCG>CCT p.P462P FAM65C_uc010zyt.1_Silent_p.P466P|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.P462P NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 462 ovary(2) 2 GCTCTGCAAACGGGCCTCCAG 0.662 6 16 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58381249 58381249 + Missense_Mutation SNP A C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr20:58381249A>C uc002yau.2 + 8 1795 c.1328A>C c.(1327-1329)AAA>ACA p.K443T PHACTR3_uc002yat.2_Missense_Mutation_p.K440T|PHACTR3_uc010zzw.1_Missense_Mutation_p.K402T|PHACTR3_uc002yav.2_Missense_Mutation_p.K402T|PHACTR3_uc002yaw.2_Missense_Mutation_p.K402T|PHACTR3_uc002yax.2_Missense_Mutation_p.K332T NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 443 RPEL 3.|Required for PP1CA binding and inhibition of PP1 activity. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAGCTTTCCAAGTAAGTGGCA 0.592 16 32 --- --- --- --- PASS KRTAP6-1 337966 broad.mit.edu 37 21 31986059 31986059 + Silent SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr21:31986059G>A uc002yop.2 - 1 165 c.165C>T c.(163-165)TCC>TCT p.S55S KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 55 cytosol|intermediate filament 0 AGCCACAGAGGGAGCGGGAGC 0.582 25 31 --- --- --- --- PASS KRTAP10-3 386682 broad.mit.edu 37 21 45978072 45978072 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr21:45978072G>C uc002zfj.1 - 1 572 c.527C>G c.(526-528)TCC>TGC p.S176C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 176 18 X 5 AA repeats of C-C-X(3). Missing (in Ref. 3; AAI33678). keratin filament skin(1) 1 GGCACAGCAGGAGGGGATGGG 0.721 3 40 --- --- --- --- PASS KRTAP10-4 386672 broad.mit.edu 37 21 45994014 45994014 + Missense_Mutation SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr21:45994014C>T uc002zfk.1 + 1 409 c.379C>T c.(379-381)CCC>TCC p.P127S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 127 36 X 5 AA repeats of C-C-X(3).|10. keratin filament 0 GTGCTGTGTGCCCGTCTGCTG 0.642 5 102 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22735461 22735461 + RNA SNP C T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr22:22735461C>T uc011aim.1 + 46 c.5257C>T Parts of antibodies, mostly variable regions. 0 TCTGGGACCCCCGGGCAGAGG 0.562 22 24 --- --- --- --- PASS OSBP2 23762 broad.mit.edu 37 22 31289716 31289716 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chr22:31289716G>A uc003aiy.1 + 11 2290 c.2186G>A c.(2185-2187)CGG>CAG p.R729Q OSBP2_uc011ala.1_Missense_Mutation_p.R563Q|OSBP2_uc010gwc.1_Missense_Mutation_p.R556Q|OSBP2_uc011alb.1_Missense_Mutation_p.R680Q|OSBP2_uc003aiz.1_Missense_Mutation_p.R728Q|OSBP2_uc003aja.1_Missense_Mutation_p.R362Q|OSBP2_uc011alc.1_Missense_Mutation_p.R471Q|OSBP2_uc003ajb.2_Missense_Mutation_p.R274Q|OSBP2_uc011ald.1_Missense_Mutation_p.R273Q|OSBP2_uc010gwd.1_Missense_Mutation_p.R274Q NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 729 lipid transport membrane lipid binding breast(1)|skin(1) 2 GAGGCAGCCCGGAAGGTAAGC 0.592 11 12 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24382663 24382663 + Missense_Mutation SNP G A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:24382663G>A uc011mjx.1 + 1 1786 c.1786G>A c.(1786-1788)GCG>ACG p.A596T NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CATAAAAATAGCGCCAGCCAT 0.557 14 4 --- --- --- --- PASS KIF4A 24137 broad.mit.edu 37 X 69595965 69595965 + Silent SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:69595965C>A uc004dyg.2 + 18 2066 c.1939C>A c.(1939-1941)CGG>AGG p.R647R KIF4A_uc010nkw.2_Silent_p.R647R|KIF4A_uc004dyf.1_Silent_p.R647R NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 647 Potential. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 GAAAAACCAGCGGGTACAGTT 0.363 20 6 --- --- --- --- PASS POU3F4 5456 broad.mit.edu 37 X 82763715 82763715 + Missense_Mutation SNP G T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:82763715G>T uc004eeg.2 + 1 447 c.383G>T c.(382-384)GGC>GTC p.G128V NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 128 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 ACGTCAAGCGGCCAACCCCTC 0.667 3 13 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86773098 86773098 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:86773098C>A uc004efb.2 + 1 384 c.202C>A c.(202-204)CCT>ACT p.P68T KLHL4_uc004efa.2_Missense_Mutation_p.P68T NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 68 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 AAGCAACAGTCCTGTCCACCA 0.517 15 12 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177805 89177805 + Missense_Mutation SNP C A A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:89177805C>A uc004efe.2 + 2 770 c.721C>A c.(721-723)CCA>ACA p.P241T NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 241 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGAGCCTAATCCATGATTGAT 0.463 22 12 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105279133 105279133 + Missense_Mutation SNP A T T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:105279133A>T uc004eme.1 - 2 882 c.866T>A c.(865-867)CTG>CAG p.L289Q SERPINA7_uc010npd.2_Missense_Mutation_p.L289Q|SERPINA7_uc010npe.1_Missense_Mutation_p.L289Q NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 289 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) CCACTTCTTCAGTGTTTTAGA 0.483 7 118 --- --- --- --- PASS HTR2C 3358 broad.mit.edu 37 X 114082653 114082653 + Missense_Mutation SNP G C C TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:114082653G>C uc004epu.1 + 5 1165 c.437G>C c.(436-438)TGC>TCC p.C146S HTR2C_uc010nqc.1_Missense_Mutation_p.C146S|HTR2C_uc004epv.1_Missense_Mutation_p.C146S NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 146 Helical; Name=3; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ATGCACCTCTGCGCTATATCG 0.428 42 27 --- --- --- --- PASS CDR1 1038 broad.mit.edu 37 X 139866289 139866289 + Silent SNP A G G TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 665e98bf-6163-4d18-9665-ba93df9ecf6d 990eb8d9-536a-4d31-a8fa-5346b6076477 g.chrX:139866289A>G uc004fbg.1 - 1 435 c.243T>C c.(241-243)TTT>TTC p.F81F uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 81 23 X 6 AA approximate repeats.|14. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TGTCTTCCAGAAAATCCTTGT 0.463 4 68 --- --- --- --- PASS