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 DFFB 1677 broad.mit.edu 37 1 3800177 3800177 + Nonsense_Mutation SNP G T T rs59649948 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:3800177G>T uc001alc.2 + 7 1212 c.889G>T c.(889-891)GAG>TAG p.E297* DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Nonsense_Mutation_p.E321*|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Nonsense_Mutation_p.E248*|DFFB_uc001ald.2_Nonsense_Mutation_p.E233* NM_004402 NP_004393 O76075 DFFB_HUMAN DNA fragmentation factor, 40 kD, beta 297 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) TTTTACCTCAGAGAACCTAAA 0.443 5 93 --- --- --- --- PASS ANGPTL7 10218 broad.mit.edu 37 1 11249665 11249665 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:11249665C>A uc001ase.2 + 1 268 c.29C>A c.(28-30)ACC>AAC p.T10N MTOR_uc001asd.2_Intron NM_021146 NP_066969 O43827 ANGL7_HUMAN angiopoietin-like 7 precursor 10 response to oxidative stress|signal transduction extracellular region receptor binding 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) TCAGCTGTGACCTGGCTCTGC 0.557 49 44 --- --- --- --- PASS MTHFR 4524 broad.mit.edu 37 1 11861293 11861293 + Missense_Mutation SNP G A A rs45550133 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:11861293G>A uc001atc.1 - 3 584 c.400C>T c.(400-402)CGC>TGC p.R134C MTHFR_uc001atb.1_Missense_Mutation_p.R157C NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 134 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) TCCTCCAGGCGCTGACGGCAG 0.617 31 8 --- --- --- --- PASS PHC2 1912 broad.mit.edu 37 1 33790576 33790576 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:33790576C>G uc001bxg.1 - 14 2521 c.2467G>C c.(2467-2469)GGG>CGG p.G823R PHC2_uc001bxh.1_Missense_Mutation_p.G795R|PHC2_uc009vuh.1_Missense_Mutation_p.G824R|PHC2_uc001bxe.1_Missense_Mutation_p.G288R|PHC2_uc001bxf.1_3'UTR NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 823 SAM. multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGGGCTTGCCCGTCGATTTCC 0.592 6 5 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39797468 39797468 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:39797468G>T uc010oiu.1 + 1 659 c.528G>T c.(526-528)GGG>GGT p.G176G MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1741 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGCAGGGGGGATGGTGAGCT 0.493 22 11 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44071241 44071241 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:44071241G>T uc001cjr.2 + 19 3771 c.3431G>T c.(3430-3432)GGG>GTG p.G1144V PTPRF_uc001cjs.2_Missense_Mutation_p.G1135V|PTPRF_uc001cju.2_Missense_Mutation_p.G522V|PTPRF_uc009vwt.2_Missense_Mutation_p.G704V|PTPRF_uc001cjv.2_Missense_Mutation_p.G604V|PTPRF_uc001cjw.2_Missense_Mutation_p.G370V NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1144 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGTGTGGGCGGGAGCATGCTG 0.627 14 9 --- --- --- --- PASS TAL1 6886 broad.mit.edu 37 1 47685806 47685806 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:47685806G>T uc001cqx.2 - 4 1159 c.582C>A c.(580-582)AGC>AGA p.S194R TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.S194R NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 194 Basic motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 ATCGCTCCCGGCTGTTGGTGA 0.562 T TRD@|SIL lymphoblastic leukemia/biphasic 21 7 --- --- --- --- PASS EPS8L3 79574 broad.mit.edu 37 1 110302413 110302413 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:110302413C>A uc001dyr.1 - 4 287 c.142G>T c.(142-144)GAG>TAG p.E48* EPS8L3_uc001dys.1_Nonsense_Mutation_p.E48*|EPS8L3_uc001dyq.1_Nonsense_Mutation_p.E48*|EPS8L3_uc009wfm.1_Nonsense_Mutation_p.E14*|EPS8L3_uc009wfn.1_Nonsense_Mutation_p.E14*|EPS8L3_uc009wfo.1_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 48 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AAGGCATCCTCGGGCCCCTGG 0.612 4 32 --- --- --- --- PASS OVGP1 5016 broad.mit.edu 37 1 111963989 111963989 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:111963989T>A uc001eba.2 - 8 868 c.812A>T c.(811-813)AAA>ATA p.K271I OVGP1_uc001eaz.2_Missense_Mutation_p.K233I|OVGP1_uc010owb.1_Intron NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 271 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity p.K271fs*4(1) 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) CTTAGAGGCTTTGAGGAGGCG 0.517 36 19 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115524061 115524061 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:115524061T>A uc001efr.2 + 29 2696 c.2487T>A c.(2485-2487)CAT>CAA p.H829Q SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.H829Q|SYCP1_uc009wgw.2_Missense_Mutation_p.H804Q NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 829 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTTGATCATGGCATATCCA 0.333 27 7 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145534248 145534248 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:145534248C>A uc001eoa.2 + 14 1829 c.1753C>A c.(1753-1755)CAT>AAT p.H585N NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.H454N|ITGA10_uc009wiw.2_Missense_Mutation_p.H442N|ITGA10_uc010oyw.1_Missense_Mutation_p.H530N NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 585 Extracellular (Potential).|FG-GAP 6. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTACCTGTACCATGGAACCCA 0.567 5 95 --- --- --- --- PASS CD160 11126 broad.mit.edu 37 1 145706688 145706688 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:145706688C>G uc001eol.1 - 3 289 c.71G>C c.(70-72)GGT>GCT p.G24A NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Missense_Mutation_p.G24A|CD160_uc010oyz.1_RNA NM_007053 NP_008984 O95971 BY55_HUMAN CD160 antigen precursor 24 cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding 0 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ATCCTCACCACCAGACTGGAT 0.587 16 49 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152059147 152059147 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:152059147T>C uc001ezo.1 - 3 1076 c.1011A>G c.(1009-1011)GGA>GGG p.G337G NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 337 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CAGCATCCTTTCCTGGTTCTT 0.448 49 163 --- --- --- --- PASS FCRL4 83417 broad.mit.edu 37 1 157548310 157548310 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:157548310C>T uc001fqw.2 - 10 1519 c.1383G>A c.(1381-1383)TTG>TTA p.L461L FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 461 Cytoplasmic (Potential).|ITIM motif 2. integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CAGAGTATACCAAATCTCCCT 0.393 7 46 --- --- --- --- PASS OR10J1 26476 broad.mit.edu 37 1 159409849 159409849 + Nonsense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:159409849C>T uc010piv.1 + 1 301 c.301C>T c.(301-303)CAG>TAG p.Q101* uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 101 Extracellular (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) AGGTATGAGCCAGCCCATATC 0.478 13 47 --- --- --- --- PASS KCNJ10 3766 broad.mit.edu 37 1 160012156 160012156 + Nonsense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:160012156C>T uc001fuw.1 - 2 317 c.167G>A c.(166-168)TGG>TAG p.W56* NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 56 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GAAGGTTGTCCACAGGTCCTT 0.542 26 107 --- --- --- --- PASS B4GALT3 8703 broad.mit.edu 37 1 161143746 161143746 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:161143746C>T uc001fyq.1 - 5 845 c.583G>A c.(583-585)GAT>AAT p.D195N PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_5'UTR|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.D195N|B4GALT3_uc001fys.1_Missense_Mutation_p.D195N|B4GALT3_uc009wud.1_Missense_Mutation_p.D195N NM_003779 NP_003770 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 195 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) AGGTCCACATCGTGCAAGAAC 0.522 17 43 --- --- --- --- PASS TADA1 117143 broad.mit.edu 37 1 166829516 166829516 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:166829516C>T uc001gdw.2 - 6 783 c.599G>A c.(598-600)CGA>CAA p.R200Q TADA1_uc001gdv.2_Missense_Mutation_p.R58Q NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 200 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 ATGACCATCTCGTAACCGATA 0.363 17 30 --- --- --- --- PASS SLC19A2 10560 broad.mit.edu 37 1 169439384 169439384 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:169439384C>A uc001gge.3 - 3 1052 c.848G>T c.(847-849)TGG>TTG p.W283L SLC19A2_uc001ggf.3_Missense_Mutation_p.W82L NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 283 Cytoplasmic (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) GAAATCATTCCATAGTACTTT 0.448 5 56 --- --- --- --- PASS SCYL3 57147 broad.mit.edu 37 1 169823643 169823643 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:169823643G>C uc001ggs.2 - 13 2135 c.1937C>G c.(1936-1938)CCC>CGC p.P646R SCYL3_uc010plw.1_Missense_Mutation_p.P238R|SCYL3_uc001ggt.2_Missense_Mutation_p.P592R|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 646 Interaction with EZR. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACCTTAAGGGGCCTTTCTTG 0.438 18 86 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171510347 171510347 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:171510347A>T uc010pmg.1 + 16 4002 c.3736A>T c.(3736-3738)AGT>TGT p.S1246C BAT2L2_uc010pmh.1_Missense_Mutation_p.S223C NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1246 protein C-terminus binding 0 TGAAACACGGAGTGAGAGCTC 0.473 56 45 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171511306 171511306 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:171511306G>T uc010pmg.1 + 16 4961 c.4695G>T c.(4693-4695)AGG>AGT p.R1565S BAT2L2_uc010pmh.1_Missense_Mutation_p.R542S NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1565 protein C-terminus binding 0 AATCAGGAAGGAATTTCTCAG 0.428 19 7 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564385 176564385 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:176564385C>A uc001gkz.2 + 3 2809 c.1645C>A c.(1645-1647)CTG>ATG p.L549M PAPPA2_uc001gky.1_Missense_Mutation_p.L549M|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 549 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCAGATTCGTCTGCAGCACGA 0.567 10 42 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564722 176564722 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:176564722C>A uc001gkz.2 + 3 3146 c.1982C>A c.(1981-1983)TCA>TAA p.S661* PAPPA2_uc001gky.1_Nonsense_Mutation_p.S661*|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 661 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GACCCTGACTCACCCAAGAGG 0.498 4 29 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176769217 176769217 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:176769217G>A uc001gkz.2 + 21 6315 c.5151G>A c.(5149-5151)CGG>CGA p.R1717R PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1717 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCACTGGCCGGCGTCAATGGC 0.498 34 79 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186277488 186277488 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:186277488G>A uc001gru.3 + 7 2688 c.2637G>A c.(2635-2637)GAG>GAA p.E879E PRG4_uc001grt.3_Silent_p.E838E|PRG4_uc009wyl.2_Silent_p.E786E|PRG4_uc009wym.2_Silent_p.E745E|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 879 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAACTCCTGAGCTTTCTGCAG 0.488 165 116 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196881962 196881962 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:196881962T>A uc001gto.2 + 3 418 c.349T>A c.(349-351)TGT>AGT p.C117S CFHR4_uc009wyy.2_Missense_Mutation_p.C363S|CFHR4_uc001gtp.2_Missense_Mutation_p.C364S NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 117 Sushi 2. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 acaatataaatGTAAACCAGG 0.279 26 54 --- --- --- --- PASS FAM58B 339521 broad.mit.edu 37 1 200183331 200183331 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:200183331G>T uc009wzi.1 + 1 676 c.640G>T c.(640-642)GAG>TAG p.E214* NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 214 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) GGTGCCCGCCGAGGTCGAGGC 0.562 4 69 --- --- --- --- PASS CNTN2 6900 broad.mit.edu 37 1 205034927 205034927 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:205034927T>A uc001hbr.2 + 14 1975 c.1706T>A c.(1705-1707)ATT>AAT p.I569N CNTN2_uc001hbq.1_Missense_Mutation_p.I460N|CNTN2_uc001hbs.2_Missense_Mutation_p.I357N NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 569 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGGAGACCATTGGGGATCTG 0.637 11 36 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207639950 207639950 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:207639950G>A uc001hfw.2 + 2 232 c.138G>A c.(136-138)GTG>GTA p.V46V CR2_uc001hfv.2_Silent_p.V46V|CR2_uc009xch.2_Silent_p.V46V NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 46 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TTGGTACCGTGATAAGGTACA 0.433 8 127 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220153567 220153567 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:220153567C>G uc001hly.1 - 26 3841 c.3571G>C c.(3571-3573)GAC>CAC p.D1191H NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1191 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCATATAAGTCAAGTATCTGC 0.328 42 34 --- --- --- --- PASS DUSP10 11221 broad.mit.edu 37 1 221912353 221912353 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:221912353C>A uc001hmy.1 - 2 916 c.734G>T c.(733-735)CGA>CTA p.R245L DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 245 Rhodanese. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GGGCATCACTCGGCTTGGTTC 0.468 4 106 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222717398 222717398 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:222717398G>A uc001hnh.1 - 2 513 c.455C>T c.(454-456)ACC>ATC p.T152I NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 152 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GCGGTCATTGGTCAGCAGGGA 0.572 13 91 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247420126 247420126 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:247420126T>A uc010pyu.1 + 2 753 c.753T>A c.(751-753)AGT>AGA p.S251R NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 251 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) GCTATCTCAGTGCCTTCACAC 0.468 25 90 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436684 248436684 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:248436684A>G uc010pzi.1 - 1 433 c.433T>C c.(433-435)TCG>CCG p.S145P NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGCCAACACGACATGGTCATC 0.577 43 116 --- --- --- --- PASS OR14C36 127066 broad.mit.edu 37 1 248512734 248512734 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:248512734T>A uc010pzl.1 + 1 658 c.658T>A c.(658-660)TTT>ATT p.F220I NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CATTCACATCTTTTCGACCGT 0.498 18 59 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845378 248845378 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:248845378C>A uc001ieu.1 - 1 228 c.228G>T c.(226-228)GTG>GTT p.V76V NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGATTTAGGCACAGTGACTG 0.473 11 38 --- --- --- --- PASS SMC6 79677 broad.mit.edu 37 2 17906556 17906556 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:17906556T>C uc002rco.2 - 9 990 c.694A>G c.(694-696)AGA>GGA p.R232G SMC6_uc010exo.2_Missense_Mutation_p.R232G|SMC6_uc002rcn.2_Missense_Mutation_p.R232G|SMC6_uc002rcp.1_Missense_Mutation_p.R258G|SMC6_uc002rcq.2_Missense_Mutation_p.R258G|SMC6_uc002rcr.1_Missense_Mutation_p.R232G NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 232 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCCTTTGTTCTTTCTTTCGTT 0.303 26 28 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232746 21232746 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:21232746C>T uc002red.2 - 26 7122 c.6994G>A c.(6994-6996)GAG>AAG p.E2332K NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2332 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGATTTTCTCAGCTACTTCA 0.343 13 84 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27121593 27121593 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:27121593G>T uc002rhu.3 + 2 384 c.226G>T c.(226-228)GCC>TCC p.A76S DPYSL5_uc002rhv.3_Missense_Mutation_p.A76S NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 76 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCATGAATGCCACGTGCGT 0.537 14 40 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27800671 27800671 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:27800671T>A uc002rkz.3 + 1 1283 c.1232T>A c.(1231-1233)CTA>CAA p.L411Q NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 411 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AAGCAATGGCTACAAATGGAG 0.468 16 68 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27801331 27801331 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:27801331G>A uc002rkz.3 + 1 1943 c.1892G>A c.(1891-1893)TGT>TAT p.C631Y NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 631 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GCAATAAATTGTGTGGATTTA 0.408 54 22 --- --- --- --- PASS GPN1 11321 broad.mit.edu 37 2 27852010 27852010 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:27852010G>T uc010ymc.1 + 1 148 c.127G>T c.(127-129)GGA>TGA p.G43* ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Intron|GPN1_uc010yma.1_Intron|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Nonsense_Mutation_p.G43*|GPN1_uc010ezg.1_5'Flank NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 29 GTP (Pootential). cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 GGGAATGGCGGGATCCGGGAA 0.622 8 38 --- --- --- --- PASS SLC4A1AP 22950 broad.mit.edu 37 2 27887973 27887973 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:27887973G>T uc002rlk.3 + 2 1114 c.832G>T c.(832-834)GAG>TAG p.E278* SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 278 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) TCAGGGACCAGAGGAAGACCG 0.294 7 135 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43927638 43927638 + Missense_Mutation SNP A G G rs144437669 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:43927638A>G uc010yny.1 + 8 1624 c.1541A>G c.(1540-1542)TAT>TGT p.Y514C PLEKHH2_uc002rte.3_Missense_Mutation_p.Y514C|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Y513C NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 514 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTATTTTCCTATGACTCCTTG 0.448 22 124 --- --- --- --- PASS MSH6 2956 broad.mit.edu 37 2 48027187 48027187 + Missense_Mutation SNP T G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:48027187T>G uc002rwd.3 + 4 2217 c.2065T>G c.(2065-2067)TTC>GTC p.F689V MSH6_uc002rwc.2_Missense_Mutation_p.F689V|MSH6_uc010fbj.2_Missense_Mutation_p.F387V|MSH6_uc010yoi.1_Missense_Mutation_p.F559V|MSH6_uc010yoj.1_Missense_Mutation_p.F387V NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 689 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGGTTGTGTCTTCTACCTCAA 0.423 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 42 152 --- --- --- --- PASS FANCL 55120 broad.mit.edu 37 2 58392929 58392929 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:58392929G>T uc002rzw.3 - 8 688 c.621C>A c.(619-621)ATC>ATA p.I207I FANCL_uc002rzx.3_Silent_p.I212I|FANCL_uc010fce.2_Silent_p.I207I|FANCL_uc010fcf.1_Silent_p.I148I NM_018062 NP_060532 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L isoform 207 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TCTTCTCATCGATTTCATCCA 0.408 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 52 25 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63720003 63720003 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:63720003G>T uc002sch.2 - 2 593 c.147C>A c.(145-147)ACC>ACA p.T49T C2orf86_uc002sci.1_Silent_p.T25T NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 49 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 CAATGTGTAAGGTATTCTTCA 0.348 8 235 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71883310 71883310 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:71883310G>T uc002sie.2 + 42 4904 c.4528G>T c.(4528-4530)GAG>TAG p.E1510* DYSF_uc010feg.2_Nonsense_Mutation_p.E1541*|DYSF_uc010feh.2_Nonsense_Mutation_p.E1517*|DYSF_uc002sig.3_Nonsense_Mutation_p.E1496*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.E1531*|DYSF_uc010fef.2_Nonsense_Mutation_p.E1548*|DYSF_uc010fei.2_Nonsense_Mutation_p.E1527*|DYSF_uc010fek.2_Nonsense_Mutation_p.E1528*|DYSF_uc010fej.2_Nonsense_Mutation_p.E1518*|DYSF_uc010fel.2_Nonsense_Mutation_p.E1497*|DYSF_uc010feo.2_Nonsense_Mutation_p.E1542*|DYSF_uc010fem.2_Nonsense_Mutation_p.E1532*|DYSF_uc010fen.2_Nonsense_Mutation_p.E1549*|DYSF_uc002sif.2_Nonsense_Mutation_p.E1511*|DYSF_uc010yqy.1_Nonsense_Mutation_p.E391*|DYSF_uc010yqz.1_Nonsense_Mutation_p.E271* NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1510 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CACACAGCTGGAGAATGTGGA 0.358 7 175 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73762076 73762076 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:73762076G>T uc002sje.1 + 14 10021 c.9910G>T c.(9910-9912)GGA>TGA p.G3304* ALMS1_uc002sjf.1_Nonsense_Mutation_p.G3260*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.G2690*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.G2690*|ALMS1_uc010fev.1_Missense_Mutation_p.D119Y NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3302 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CTCCCATTCAGGTATTATGCA 0.358 10 233 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746050 77746050 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:77746050G>A uc002snr.2 - 3 1360 c.945C>T c.(943-945)TGC>TGT p.C315C LRRTM4_uc002snq.2_Silent_p.C315C|LRRTM4_uc002sns.2_Silent_p.C315C|LRRTM4_uc002snt.2_Silent_p.C316C NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 315 LRRCT.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGCTCCGACTGCATTCCCACA 0.393 6 19 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746622 77746622 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:77746622G>C uc002snr.2 - 3 788 c.373C>G c.(373-375)CAC>GAC p.H125D LRRTM4_uc002snq.2_Missense_Mutation_p.H125D|LRRTM4_uc002sns.2_Missense_Mutation_p.H125D|LRRTM4_uc002snt.2_Missense_Mutation_p.H126D NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 125 LRR 3.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GTTTTATTGTGCAGATAAGTA 0.383 15 59 --- --- --- --- PASS POLR1A 25885 broad.mit.edu 37 2 86292414 86292414 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:86292414G>A uc002sqs.2 - 14 2420 c.2041C>T c.(2041-2043)CTG>TTG p.L681L POLR1A_uc010ytb.1_Silent_p.L47L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 681 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CCTGTCCACAGCGGAAAGGGC 0.493 14 114 --- --- --- --- PASS RMND5A 64795 broad.mit.edu 37 2 86980655 86980655 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:86980655G>T uc010ytm.1 + 4 872 c.495G>T c.(493-495)AAG>AAT p.K165N RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.K165N NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 165 CTLH. ovary(1)|skin(1) 2 AGGCATTAAAGGTCAGAGTTC 0.368 5 71 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89160397 89160397 + RNA SNP C A A rs141201227 by1000genomes TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:89160397C>A uc010ytr.1 - 239 c.9393G>T uc002sti.1_5'Flank|uc002stj.1_Intron Parts of antibodies, mostly variable regions. AGTGCACTTACGTTTGATCTC 0.423 103 37 --- --- --- --- PASS FER1L5 90342 broad.mit.edu 37 2 97370014 97370014 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:97370014G>T uc010fia.2 + 51 5972 c.5972G>T c.(5971-5973)TGG>TTG p.W1991L FER1L5_uc002sws.3_Missense_Mutation_p.W700L|FER1L5_uc002swt.3_Missense_Mutation_p.W700L|FER1L5_uc010yus.1_Missense_Mutation_p.W699L NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1991 integral to membrane ovary(1) 1 TATATTTTCTGGAAACGCTAT 0.473 7 147 --- --- --- --- PASS CNNM4 26504 broad.mit.edu 37 2 97427870 97427870 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:97427870C>A uc002swx.2 + 1 1232 c.1134C>A c.(1132-1134)ACC>ACA p.T378T NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 378 CBS 1. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 ATATCATGACCCAGCTCCAGG 0.522 5 60 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102314986 102314986 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:102314986G>T uc002tbg.2 + 2 164 c.109G>T c.(109-111)GGA>TGA p.G37* MAP4K4_uc002tbc.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbd.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbe.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbf.2_Nonsense_Mutation_p.G37*|MAP4K4_uc010yvy.1_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbh.2_Nonsense_Mutation_p.G37*|MAP4K4_uc002tbi.2_Nonsense_Mutation_p.G37* NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 37 Protein kinase.|ATP (By similarity). intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGGCACCTATGGACAAGTCTA 0.488 12 492 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109379712 109379712 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:109379712A>G uc002tem.3 + 20 2843 c.2717A>G c.(2716-2718)AAT>AGT p.N906S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 906 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TATGGCATGAATAGGCTTCCA 0.408 33 51 --- --- --- --- PASS SAP130 79595 broad.mit.edu 37 2 128767876 128767876 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:128767876G>A uc002tpp.2 - 7 1046 c.914C>T c.(913-915)ACG>ATG p.T305M SAP130_uc002tpn.2_Missense_Mutation_p.T66M|SAP130_uc002tpo.2_Missense_Mutation_p.T50M|SAP130_uc010fmd.2_Missense_Mutation_p.T305M|SAP130_uc002tpq.1_Missense_Mutation_p.T279M NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 305 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CGCCGCTGTCGTAGTGATGAC 0.512 47 7 --- --- --- --- PASS TUBA3D 113457 broad.mit.edu 37 2 132237812 132237812 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:132237812G>T uc002tsu.3 + 4 653 c.546G>T c.(544-546)GTG>GTT p.V182V NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 182 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CAGCCGTGGTGGAGCCCTACA 0.552 6 128 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168107064 168107064 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:168107064C>A uc002udx.2 + 8 9180 c.9162C>A c.(9160-9162)TCC>TCA p.S3054S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S2879S|XIRP2_uc010fpq.2_Silent_p.S2832S|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2879 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAACATCATCCAAAGTATCTA 0.353 6 133 --- --- --- --- PASS HOXD10 3236 broad.mit.edu 37 2 176983941 176983941 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:176983941C>A uc002ukj.2 + 2 1075 c.1005C>A c.(1003-1005)GCC>GCA p.A335A NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 335 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AACTGACCGCCAACCTCACGT 0.463 5 82 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:178098960C>G uc002ulh.3 - 2 640 c.85G>C c.(85-87)GAT>CAT p.D29H NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363 Mis NSCLC|HNSCC HNSCC(56;0.16) 39 5 --- --- --- --- PASS TTC30B 150737 broad.mit.edu 37 2 178415699 178415699 + Nonsense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:178415699G>C uc002uln.2 - 1 1826 c.1793C>G c.(1792-1794)TCA>TGA p.S598* TTC30B_uc010zfc.1_Nonsense_Mutation_p.S370* NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 598 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TGTGTGTTTTGACATGTTTTC 0.388 7 165 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197157413 197157413 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:197157413C>A uc002utm.1 - 14 3059 c.2876G>T c.(2875-2877)AGG>ATG p.R959M HECW2_uc002utl.1_Missense_Mutation_p.R603M NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 959 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GTGGGTGTCCCTCCGGACTTT 0.493 51 4 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198949015 198949015 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:198949015T>C uc010fsp.2 + 2 1065 c.774T>C c.(772-774)ATT>ATC p.I258I PLCL1_uc002uuv.3_Silent_p.I179I NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 258 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GGAATGGGATTATGTTGGAAG 0.423 15 114 --- --- --- --- PASS INHA 3623 broad.mit.edu 37 2 220439980 220439980 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:220439980G>T uc002vmk.1 + 2 977 c.833G>T c.(832-834)CGG>CTG p.R278L NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 278 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity ovary(1) 1 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCTGGGAACGGTGGATCGTG 0.612 49 6 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228148491 228148491 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr2:228148491G>T uc002vom.1 + 33 2827 c.2665G>T c.(2665-2667)GGA>TGA p.G889* COL4A3_uc002von.1_Nonsense_Mutation_p.G889*|COL4A3_uc002voo.1_Nonsense_Mutation_p.G889*|COL4A3_uc002vop.1_Nonsense_Mutation_p.G889*|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 889 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGGTGAAGATGGAGTGATTGG 0.458 5 71 --- --- --- --- PASS BTD 686 broad.mit.edu 37 3 15677003 15677003 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:15677003C>T uc003cah.2 + 2 220 c.117C>T c.(115-117)GCC>GCT p.A39A BTD_uc011avv.1_Silent_p.A41A|BTD_uc011avw.1_Silent_p.A41A|BTD_uc011avx.1_Silent_p.A19A NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 39 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 ACGTGGTTGCCCTGGGAGCCC 0.537 6 59 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19554758 19554758 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:19554758G>T uc003cbk.1 + 13 2571 c.2376G>T c.(2374-2376)AAG>AAT p.K792N KCNH8_uc010hex.1_Missense_Mutation_p.K253N NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 792 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GGAAAGAGAAGAACTTGAAAT 0.448 19 28 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49692819 49692819 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:49692819C>T uc003cxe.3 + 5 5944 c.5830C>T c.(5830-5832)CCC>TCC p.P1944S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1944 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTTCTATGGTCCCCGGGACCC 0.687 7 12 --- --- --- --- PASS SLMAP 7871 broad.mit.edu 37 3 57908716 57908716 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:57908716A>G uc003dje.1 + 21 2565 c.2360A>G c.(2359-2361)AAC>AGC p.N787S SLMAP_uc003djd.1_Missense_Mutation_p.N770S|SLMAP_uc003djf.1_Missense_Mutation_p.N749S|SLMAP_uc003djg.1_Missense_Mutation_p.N381S|SLMAP_uc011bez.1_Missense_Mutation_p.N255S|SLMAP_uc011bfa.1_Missense_Mutation_p.N321S|SLMAP_uc003dji.1_Missense_Mutation_p.N321S|SLMAP_uc011bfb.1_Missense_Mutation_p.N321S|SLMAP_uc011bfc.1_Missense_Mutation_p.N280S NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 787 Cytoplasmic (Potential).|Potential. muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CAGTGTAAAAACAACCTGAAG 0.383 49 13 --- --- --- --- PASS FLNB 2317 broad.mit.edu 37 3 58089694 58089694 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:58089694G>T uc003djj.2 + 10 1657 c.1492G>T c.(1492-1494)GAG>TAG p.E498* FLNB_uc010hne.2_Nonsense_Mutation_p.E498*|FLNB_uc003djk.2_Nonsense_Mutation_p.E498*|FLNB_uc010hnf.2_Nonsense_Mutation_p.E498*|FLNB_uc003djl.2_Nonsense_Mutation_p.E329*|FLNB_uc003djm.2_Nonsense_Mutation_p.E329* NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 498 Filamin 3. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGAGGGTCTGGAGGAGCTGGT 0.517 5 47 --- --- --- --- PASS MINA 84864 broad.mit.edu 37 3 97664061 97664061 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:97664061G>T uc003drz.1 - 10 1871 c.1365C>A c.(1363-1365)TCC>TCA p.S455S MINA_uc003dry.1_Silent_p.S126S|MINA_uc003dsa.1_Silent_p.S454S|MINA_uc003dsb.1_Silent_p.S455S|MINA_uc003dsc.1_Silent_p.S454S NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 455 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 CTGTCCAGAGGGATAATACCA 0.373 12 176 --- --- --- --- PASS TMEM45A 55076 broad.mit.edu 37 3 100295772 100295772 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:100295772G>T uc003dtz.1 + 6 1051 c.738G>T c.(736-738)TTG>TTT p.L246F TMEM45A_uc003dua.1_Missense_Mutation_p.L262F|TMEM45A_uc003dub.1_RNA NM_018004 NP_060474 Q9NWC5 TM45A_HUMAN transmembrane protein 45A 246 integral to membrane skin(2)|ovary(1) 3 TCCTCAGGTTGGTTAAATCTA 0.383 6 87 --- --- --- --- PASS CEP97 79598 broad.mit.edu 37 3 101476034 101476034 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:101476034G>A uc003dvk.1 + 8 1048 c.1021G>A c.(1021-1023)GAA>AAA p.E341K CEP97_uc010hpm.1_Missense_Mutation_p.E307K|CEP97_uc011bhf.1_Missense_Mutation_p.E341K|CEP97_uc003dvl.1_Missense_Mutation_p.E37K|CEP97_uc003dvm.1_Missense_Mutation_p.E179K NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 341 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 GATATCCCAGGAAAGTGGTAA 0.378 5 93 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108175659 108175659 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:108175659G>T uc003dxa.1 - 20 2209 c.2152C>A c.(2152-2154)CGT>AGT p.R718S NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 718 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 AAACCTTCACGGCATATCCTA 0.433 60 121 --- --- --- --- PASS BOC 91653 broad.mit.edu 37 3 112993496 112993496 + Silent SNP G C C rs139797362 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:112993496G>C uc003dzx.2 + 9 2130 c.1509G>C c.(1507-1509)GCG>GCC p.A503A BOC_uc003dzy.2_Silent_p.A503A|BOC_uc003dzz.2_Silent_p.A503A|BOC_uc003eab.2_Silent_p.A204A NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 503 Fibronectin type-III 1.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GTGGCCGGGCGCCAATCCTCT 0.632 8 28 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113858465 113858465 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:113858465C>A uc003ebd.2 - 6 1028 c.605G>T c.(604-606)GGA>GTA p.G202V DRD3_uc010hqn.1_Missense_Mutation_p.G202V|DRD3_uc003ebb.1_Missense_Mutation_p.G202V|DRD3_uc003ebc.1_Missense_Mutation_p.G202V NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 202 Helical; Name=5. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GACAGTCACTCCAAAGGGCAG 0.512 62 147 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121410336 121410336 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:121410336G>T uc003eei.3 - 14 7986 c.7860C>A c.(7858-7860)GCC>GCA p.A2620A GOLGB1_uc010hrc.2_Silent_p.A2625A|GOLGB1_uc003eej.3_Silent_p.A2586A NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2620 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTTCTTGCAAGGCTGTTACTT 0.378 7 106 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121417435 121417435 + Silent SNP C A A rs112783488 byFrequency TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:121417435C>A uc003eei.3 - 13 2046 c.1920G>T c.(1918-1920)GCG>GCT p.A640A GOLGB1_uc010hrc.2_Silent_p.A645A|GOLGB1_uc003eej.3_Silent_p.A606A|GOLGB1_uc011bjm.1_Silent_p.A526A|GOLGB1_uc010hrd.1_Silent_p.A604A NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 640 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) GTTCAGTGCTCGCCTGTTCTT 0.373 6 102 --- --- --- --- PASS CD86 942 broad.mit.edu 37 3 121825266 121825266 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:121825266C>A uc003eet.2 + 4 738 c.622C>A c.(622-624)CCT>ACT p.P208T CD86_uc011bjo.1_Missense_Mutation_p.P126T|CD86_uc011bjp.1_Missense_Mutation_p.P96T|CD86_uc003eeu.2_Missense_Mutation_p.P202T NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 208 Ig-like C2-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TGTTTCATTCCCTGATGTTAC 0.393 9 220 --- --- --- --- PASS MCM2 4171 broad.mit.edu 37 3 127337913 127337913 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:127337913A>T uc003ejp.2 + 13 2114 c.2057A>T c.(2056-2058)CAC>CTC p.H686L MCM2_uc011bkm.1_Missense_Mutation_p.H556L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.H639L NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 686 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CACGTCAGACACCACCCCAGC 0.647 11 6 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 3 129130176 129130176 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:129130176C>G uc003emg.2 - 5 1023 c.860G>C c.(859-861)AGA>ACA p.R287T NM_207307 NP_997190 hypothetical protein LOC90288 CAGGGAATCTCTGTGCTTGGC 0.557 63 44 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132169490 132169490 + Splice_Site SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:132169490G>C uc003eor.2 + 6 402 c.337_splice c.e6-1 p.R113_splice DNAJC13_uc010htq.1_Splice_Site_p.R113_splice NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 heat shock protein binding ovary(1)|breast(1) 2 TCTGTCTTTAGAGATACAACT 0.313 14 45 --- --- --- --- PASS A4GNT 51146 broad.mit.edu 37 3 137849890 137849890 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:137849890G>T uc003ers.2 - 2 411 c.209C>A c.(208-210)TCC>TAC p.S70Y NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 70 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AGACTCTACGGAACAGGAGAC 0.527 7 138 --- --- --- --- PASS MRAS 22808 broad.mit.edu 37 3 138119441 138119441 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:138119441C>A uc003esh.3 + 5 1074 c.513C>A c.(511-513)CTC>CTA p.L171L MRAS_uc011bmi.1_Silent_p.L95L|MRAS_uc003esi.3_Silent_p.L171L|MRAS_uc011bmj.1_Silent_p.L95L NM_012219 NP_036351 O14807 RASM_HUMAN muscle RAS oncogene homolog precursor 171 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TCCATGACCTCGTTAGAGTAA 0.542 6 239 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164760854 164760854 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:164760854C>G uc003fei.2 - 17 2059 c.1997G>C c.(1996-1998)GGA>GCA p.G666A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 666 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TACTTCATATCCGTCAGAATT 0.353 HNSCC(35;0.089) 7 204 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164793766 164793766 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:164793766G>C uc003fei.2 - 2 97 c.35C>G c.(34-36)TCT>TGT p.S12C NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 12 Cytoplasmic. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GACAATCAGAGAGATTTCCAA 0.264 HNSCC(35;0.089) 112 12 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907978 164907978 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:164907978C>A uc003fej.3 - 2 1085 c.641G>T c.(640-642)CGA>CTA p.R214L SLITRK3_uc003fek.2_Missense_Mutation_p.R214L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 214 Extracellular (Potential).|LRR 6. integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TAGCATTCCTCGGTAAAAAAG 0.418 HNSCC(40;0.11) 5 171 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169846536 169846536 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:169846536G>C uc010hws.1 - 8 1752 c.1688C>G c.(1687-1689)CCT>CGT p.P563R PHC3_uc003fgl.2_Missense_Mutation_p.P575R|PHC3_uc011bpq.1_Missense_Mutation_p.P522R|PHC3_uc011bpr.1_Missense_Mutation_p.P489R NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 563 Pro-rich. 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) CTGTGGAGGAGGAAGAGTCTG 0.502 334 65 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169896648 169896648 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:169896648G>T uc010hws.1 - 2 121 c.57C>A c.(55-57)ACC>ACA p.T19T PHC3_uc003fgl.2_Silent_p.T31T|PHC3_uc011bpq.1_Silent_p.T31T|PHC3_uc011bpr.1_Silent_p.T31T|PHC3_uc003fgm.2_Silent_p.T31T|PHC3_uc003fgo.1_Silent_p.T19T|PHC3_uc003fgp.3_Silent_p.T31T|PHC3_uc003fgq.3_Silent_p.T31T|PHC3_uc003fgr.1_RNA NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 19 Poly-Thr. 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) tggtggtggtggtACTGCTGG 0.418 11 656 --- --- --- --- PASS SKIL 6498 broad.mit.edu 37 3 170078995 170078995 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:170078995G>T uc003fgu.2 + 2 1588 c.876G>T c.(874-876)CTG>CTT p.L292L SKIL_uc011bps.1_Silent_p.L272L|SKIL_uc003fgv.2_Silent_p.L292L|SKIL_uc003fgw.2_Silent_p.L292L NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 292 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTCAATGTCTGGAGTGTTGTG 0.468 7 269 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173997089 173997089 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:173997089G>T uc003fio.1 + 6 1721 c.1298G>T c.(1297-1299)AGA>ATA p.R433I NLGN1_uc010hww.1_Missense_Mutation_p.R473I|NLGN1_uc003fip.1_Missense_Mutation_p.R433I NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 450 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GATGTTTTGAGAGAAACCATT 0.383 7 249 --- --- --- --- PASS ACTL6A 86 broad.mit.edu 37 3 179292177 179292177 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:179292177G>T uc003fjw.2 + 5 571 c.398G>T c.(397-399)AGA>ATA p.R133I ACTL6A_uc003fjx.2_Missense_Mutation_p.R91I|ACTL6A_uc003fjy.2_Missense_Mutation_p.R91I NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 133 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AGAGCAAAGAGAGAGAAACTG 0.353 8 439 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179481915 179481915 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:179481915G>T uc003fkh.2 + 18 2299 c.2218G>T c.(2218-2220)GGA>TGA p.G740* NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 740 UBA 2. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CACCTCCATGGGATTTCAGCG 0.408 10 391 --- --- --- --- PASS ATP11B 23200 broad.mit.edu 37 3 182554253 182554253 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:182554253C>A uc003flb.2 + 6 804 c.547C>A c.(547-549)CTG>ATG p.L183M ATP11B_uc003fla.2_Missense_Mutation_p.L183M NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 183 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AGAAACTAACCTGAAGGTTTG 0.388 10 617 --- --- --- --- PASS EIF2B5 8893 broad.mit.edu 37 3 183860854 183860854 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:183860854G>A uc003fmp.2 + 12 2033 c.1669G>A c.(1669-1671)GTT>ATT p.V557I EIF2B5_uc003fmq.2_Missense_Mutation_p.V278I|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 557 W2. astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCAGAATGAAGTTTTAGGAAC 0.438 8 106 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184003289 184003289 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:184003289G>T uc003fni.3 + 10 1564 c.1526G>T c.(1525-1527)TGG>TTG p.W509L ECE2_uc011brh.1_Missense_Mutation_p.W362L|ECE2_uc003fnl.3_Missense_Mutation_p.W437L|ECE2_uc003fnm.3_Missense_Mutation_p.W391L|ECE2_uc003fnk.3_Missense_Mutation_p.W362L|ECE2_uc011bri.1_Missense_Mutation_p.W424L|ECE2_uc010hxv.2_Missense_Mutation_p.W153L NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 509 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TACCTGATCTGGAACCTGGTG 0.517 OREG0015945 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 313 --- --- --- --- PASS SENP2 59343 broad.mit.edu 37 3 185316246 185316246 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:185316246C>T uc003fpn.2 + 3 375 c.204C>T c.(202-204)AGC>AGT p.S68S SENP2_uc011brv.1_Silent_p.S58S|SENP2_uc011brw.1_5'UTR NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 68 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) ATGCTGCCAGCTTATTTGGAT 0.413 15 143 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186980345 186980345 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:186980345T>A uc003frh.1 - 3 733 c.401A>T c.(400-402)CAC>CTC p.H134L MASP1_uc003fri.2_Missense_Mutation_p.H134L|MASP1_uc003frj.2_Missense_Mutation_p.H103L|MASP1_uc003frk.1_Missense_Mutation_p.H134L|MASP1_uc011bse.1_Missense_Mutation_p.H108L NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 134 Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AGCCATGTAGTGGGCATCAAA 0.507 43 179 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194151920 194151920 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:194151920C>T uc003fty.3 - 22 2859 c.2457G>A c.(2455-2457)GAG>GAA p.E819E ATP13A3_uc003ftz.1_Silent_p.E525E NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 819 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTTGAAGATCCTCTAAGCTAT 0.348 16 136 --- --- --- --- PASS LRCH3 84859 broad.mit.edu 37 3 197598320 197598320 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:197598320C>A uc011bul.1 + 19 2122 c.2117C>A c.(2116-2118)CCC>CAC p.P706H LRCH3_uc003fyj.1_Missense_Mutation_p.P706H|LRCH3_uc011bum.1_Missense_Mutation_p.P654H|LRCH3_uc011bun.1_Missense_Mutation_p.P552H|LRCH3_uc003fyk.2_Missense_Mutation_p.P301H NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 706 CH. extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ATTCATGTTCCCTCACCAGCT 0.393 8 290 --- --- --- --- PASS ZNF518B 85460 broad.mit.edu 37 4 10445265 10445265 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:10445265T>A uc003gmn.2 - 3 3175 c.2688A>T c.(2686-2688)TTA>TTT p.L896F NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 896 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 TCTTCCTGGATAAGTGTACTT 0.393 11 52 --- --- --- --- PASS MED28 80306 broad.mit.edu 37 4 17623283 17623283 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:17623283G>T uc003gpi.1 + 3 312 c.300G>T c.(298-300)TTG>TTT p.L100F MED28_uc003gpj.2_RNA NM_025205 NP_079481 Q9H204 MED28_HUMAN mediator complex subunit 28 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding 0 AAAAAAGATTGCAGTTATCTG 0.353 4 26 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55564640 55564640 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:55564640A>T uc010igr.2 + 3 615 c.528A>T c.(526-528)AAA>AAT p.K176N KIT_uc010igs.2_Missense_Mutation_p.K176N NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 176 Extracellular (Potential).|Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AAAGTGTGAAACGCGCCTACC 0.527 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 22 23 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55964865 55964865 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:55964865C>G uc003has.2 - 16 2674 c.2372G>C c.(2371-2373)CGG>CCG p.R791P KDR_uc003hat.1_Missense_Mutation_p.R791P NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 791 Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTTTTTTACCCGCTTAACGGT 0.418 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 17 42 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57796520 57796520 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:57796520T>A uc003hch.2 + 4 1843 c.1496T>A c.(1495-1497)GTG>GAG p.V499E REST_uc003hci.2_Missense_Mutation_p.V499E|REST_uc010ihf.2_Missense_Mutation_p.V173E NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 499 Lys-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) GTAACAGAGGTGAAAGAGATG 0.383 6 67 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62775359 62775359 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:62775359A>G uc010ihh.2 + 9 1938 c.1765A>G c.(1765-1767)ACC>GCC p.T589A LPHN3_uc003hcq.3_Missense_Mutation_p.T589A|LPHN3_uc003hct.2_5'UTR|LPHN3_uc003hcs.1_Missense_Mutation_p.T418A NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 589 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TGGGGACATCACCTACTCTGT 0.478 7 9 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71508091 71508091 + Missense_Mutation SNP T G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:71508091T>G uc011caw.1 + 9 1229 c.948T>G c.(946-948)ATT>ATG p.I316M NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 316 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AGCCAAATATTCGTGAAAATC 0.468 36 16 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77290776 77290776 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:77290776C>A uc003hkb.3 - 10 1303 c.1150G>T c.(1150-1152)GCT>TCT p.A384S NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 384 Potential. skin(3)|ovary(2)|pancreas(1) 6 TGTAGATCAGCCTAAAAAAAG 0.393 15 9 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77290777 77290777 + Splice_Site SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:77290777C>A uc003hkb.3 - 10 1303 c.1150_splice c.e10-1 p.A384_splice NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 skin(3)|ovary(2)|pancreas(1) 6 GTAGATCAGCCTAAAAAAAGA 0.393 14 9 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169197228 169197228 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr4:169197228T>C uc003irp.2 - 15 2375 c.2083A>G c.(2083-2085)ATA>GTA p.I695V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 695 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CATCTGGCTATGAGTTGCCGA 0.373 29 11 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13793634 13793634 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:13793634G>T uc003jfd.2 - 49 8256 c.8214C>A c.(8212-8214)GAC>GAA p.D2738E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2738 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAAAGATCTTGTCCACAGAAG 0.478 Kartagener_syndrome 15 99 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14507302 14507302 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:14507302A>T uc003jff.2 + 56 8690 c.8684A>T c.(8683-8685)CAC>CTC p.H2895L TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2895 Protein kinase. 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) ATCAGGGCGCACCTGGGGGAG 0.622 13 17 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19544111 19544111 + Nonsense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:19544111G>C uc003jgc.2 - 8 1634 c.1257C>G c.(1255-1257)TAC>TAG p.Y419* CDH18_uc003jgd.2_Nonsense_Mutation_p.Y419*|CDH18_uc011cnm.1_Nonsense_Mutation_p.Y419* NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 419 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGTTGATGAAGTATCTAGAGA 0.308 5 40 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21760696 21760696 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:21760696T>A uc010iuc.2 - 10 2062 c.1604A>T c.(1603-1605)AAA>ATA p.K535I CDH12_uc011cno.1_Missense_Mutation_p.K495I|CDH12_uc003jgk.2_Missense_Mutation_p.K535I|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 535 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AAAATTTGGTTTGATAGCAGC 0.388 HNSCC(59;0.17) 8 125 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26885766 26885766 + Silent SNP C A A rs145328141 byFrequency TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:26885766C>A uc003jgs.1 - 11 2008 c.1839G>T c.(1837-1839)ACG>ACT p.T613T CDH9_uc011cnv.1_Silent_p.T206T NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 613 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CGAGAGCTCCCGTGCTCAGGC 0.512 35 19 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 31983601 31983601 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:31983601C>G uc003jhl.2 + 3 1205 c.817C>G c.(817-819)CTC>GTC p.L273V PDZD2_uc003jhm.2_Missense_Mutation_p.L273V|PDZD2_uc011cnx.1_Missense_Mutation_p.L99V NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 273 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CCCAGATTCTCTCAAGGAGGT 0.532 9 127 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32090546 32090546 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:32090546C>A uc003jhl.2 + 20 7380 c.6992C>A c.(6991-6993)TCA>TAA p.S2331* PDZD2_uc003jhm.2_Nonsense_Mutation_p.S2331* NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2331 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GAATCTACCTCATTTTTCTCT 0.507 6 188 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 40998243 40998243 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:40998243G>T uc003jmj.3 - 42 5159 c.4669C>A c.(4669-4671)CAA>AAA p.Q1557K HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q1112K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1557 binding ovary(6)|central_nervous_system(2) 8 CACGGATCTTGACGAAGTGCT 0.488 124 119 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262468 45262468 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:45262468G>T uc003jok.2 - 8 2253 c.2228C>A c.(2227-2229)CCG>CAG p.P743Q NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 743 Gln-rich.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 agtctgcggcggctgggactg 0.428 6 4 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262722 45262722 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:45262722G>C uc003jok.2 - 8 1999 c.1974C>G c.(1972-1974)TCC>TCG p.S658S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 658 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TCCTCATGCGGGAGGTCGGGG 0.557 20 44 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45267206 45267206 + Nonsense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:45267206G>A uc003jok.2 - 7 1793 c.1768C>T c.(1768-1770)CGA>TGA p.R590* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 590 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CGATCTAGTCGGTCAATGGCA 0.388 53 33 --- --- --- --- PASS IL6ST 3572 broad.mit.edu 37 5 55247854 55247854 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:55247854T>A uc003jqq.2 - 13 1857 c.1602A>T c.(1600-1602)GAA>GAT p.E534D IL6ST_uc010iwb.2_Missense_Mutation_p.E473D|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.E245D|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_5'Flank NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 534 Extracellular (Potential).|Fibronectin type-III 5. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CTAAGACAGCTTCGTTTTTCC 0.353 O hepatocellular ca 12 5 --- --- --- --- PASS PIK3R1 5295 broad.mit.edu 37 5 67593336 67593336 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:67593336G>T uc003jva.2 + 16 2642 c.2082G>T c.(2080-2082)CTG>CTT p.L694L PIK3R1_uc003jvb.2_Silent_p.L694L|PIK3R1_uc003jvc.2_Silent_p.L394L|PIK3R1_uc003jvd.2_Silent_p.L424L|PIK3R1_uc003jve.2_Silent_p.L373L NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 694 SH2 2. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TGAAAGAACTGGTGCTACATT 0.493 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 7 150 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79031807 79031807 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:79031807C>T uc003kgc.2 + 2 7291 c.7219C>T c.(7219-7221)CCA>TCA p.P2407S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2407 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATCAGAGAAACCAGAGTCAAT 0.358 9 25 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127800548 127800548 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:127800548A>T uc003kuu.2 - 6 1134 c.695T>A c.(694-696)ATT>AAT p.I232N FBN2_uc003kuv.2_Missense_Mutation_p.I199N|FBN2_uc003kuw.3_Missense_Mutation_p.I232N|FBN2_uc003kux.1_Missense_Mutation_p.I232N NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 232 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CGTGCAGACAATGCCTGTCAG 0.567 31 6 --- --- --- --- PASS HSPA4 3308 broad.mit.edu 37 5 132424810 132424810 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:132424810C>T uc003kyj.2 + 10 1482 c.1201C>T c.(1201-1203)CCA>TCA p.P401S NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 401 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTACCATATCCAATATCTCT 0.328 5 32 --- --- --- --- PASS TRPC7 57113 broad.mit.edu 37 5 135692600 135692600 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:135692600G>A uc003lbn.1 - 1 476 c.473C>T c.(472-474)ACG>ATG p.T158M TRPC7_uc010jef.1_Missense_Mutation_p.T150M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.T150M|TRPC7_uc010jei.1_Missense_Mutation_p.T150M|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 159 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGAAGCGCGTGCCGTCCTC 0.667 49 11 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180048825 180048825 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:180048825T>C uc003mma.3 - 13 1816 c.1737A>G c.(1735-1737)CAA>CAG p.Q579Q FLT4_uc003mlz.3_Silent_p.Q579Q|FLT4_uc003mmb.1_Silent_p.Q112Q|FLT4_uc011dgy.1_Silent_p.Q579Q NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 579 Ig-like C2-type 6.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGCTGTCGGCTTGGCAGCTCA 0.622 Congenital_Hereditary_Lymphedema 10 8 --- --- --- --- PASS C6orf145 221749 broad.mit.edu 37 6 3737340 3737340 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:3737340T>A uc003mvt.2 - 3 920 c.439A>T c.(439-441)AGC>TGC p.S147C NM_183373 NP_899229 Q5TGL8 CF145_HUMAN hypothetical protein LOC221749 147 cell communication phosphatidylinositol binding breast(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) CTTTGAAAGCTGGGTTGAATT 0.448 11 78 --- --- --- --- PASS BTN3A1 11119 broad.mit.edu 37 6 26413559 26413559 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:26413559G>T uc003nhv.2 + 10 1549 c.1181G>T c.(1180-1182)AGA>ATA p.R394I BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.R342I|BTN3A1_uc010jqj.2_3'UTR NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 394 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 ATATCAGGGAGACATTACTGG 0.507 38 26 --- --- --- --- PASS OR2B2 81697 broad.mit.edu 37 6 27879772 27879772 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:27879772G>T uc011dkw.1 - 1 326 c.326C>A c.(325-327)TCC>TAC p.S109Y NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACATTCTGTGGAACCCAAGGC 0.463 26 20 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29574776 29574776 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:29574776C>A uc003nmt.3 - 18 2451 c.2115G>T c.(2113-2115)CTG>CTT p.L705L GABBR1_uc003nmp.3_Silent_p.L588L|GABBR1_uc003nms.3_Silent_p.L588L|GABBR1_uc003nmu.3_Silent_p.L643L|GABBR1_uc011dlr.1_Silent_p.L528L NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 705 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) TCCAGGGTTCCAGAGTCTGGA 0.592 5 35 --- --- --- --- PASS FLOT1 10211 broad.mit.edu 37 6 30708458 30708458 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:30708458G>T uc003nrm.2 - 6 636 c.472C>A c.(472-474)CAG>AAG p.Q158K FLOT1_uc011dmr.1_Missense_Mutation_p.Q110K NM_005803 NP_005794 O75955 FLOT1_HUMAN flotillin 1 158 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction 0 AGTTTTACCTGGTCATCGTGA 0.468 5 79 --- --- --- --- PASS LY6G5C 80741 broad.mit.edu 37 6 31644735 31644735 + Nonstop_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:31644735T>A uc003nvu.1 - 3 443 c.443A>T c.(442-444)TAG>TTG p.*148L LY6G5C_uc003nvw.1_RNA|LY6G5C_uc010jtb.1_RNA NM_025262 NP_079538 Q5SRR4 LY65C_HUMAN lymphocyte antigen 6 complex G5C 148 UPAR/Ly6. extracellular region 0 GCAGTCACACTAAGGAGTATA 0.478 8 69 --- --- --- --- PASS TNFRSF21 27242 broad.mit.edu 37 6 47200539 47200539 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:47200539G>T uc003oyv.2 - 6 2363 c.1930C>A c.(1930-1932)CTG>ATG p.L644M NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 644 Cytoplasmic (Potential). cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) ACAGAGTCCAGGAGGGTCTGG 0.468 6 145 --- --- --- --- PASS PAQR8 85315 broad.mit.edu 37 6 52268753 52268753 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:52268753C>A uc003pao.3 + 2 916 c.742C>A c.(742-744)CAC>AAC p.H248N NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 248 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) AGCCTGGTACCACACCCTCCA 0.592 5 53 --- --- --- --- PASS GCLC 2729 broad.mit.edu 37 6 53385711 53385711 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:53385711C>A uc003pbw.1 - 3 699 c.311G>T c.(310-312)GGG>GTG p.G104V GCLC_uc003pbx.2_Missense_Mutation_p.G104V NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 104 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TCCTGGTGTCCCTTCAATCAT 0.458 8 264 --- --- --- --- PASS LRRC1 55227 broad.mit.edu 37 6 53784346 53784346 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:53784346G>T uc003pcd.1 + 12 1434 c.1157G>T c.(1156-1158)TGG>TTG p.W386L NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 386 LRR 17. cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) AAGGCTCTGTGGCTATCTGAC 0.418 6 72 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82950160 82950160 + Missense_Mutation SNP A C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:82950160A>C uc003pjl.1 - 2 571 c.44T>G c.(43-45)CTG>CGG p.L15R IBTK_uc011dyv.1_Missense_Mutation_p.L15R|IBTK_uc011dyw.1_Missense_Mutation_p.L15R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.L15R NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 15 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AGCATGCTTCAGGGATCGACA 0.403 7 90 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90572028 90572028 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:90572028G>T uc003pnr.2 + 7 796 c.600G>T c.(598-600)AAG>AAT p.K200N CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K200N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K200N NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 200 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) ATCTGGAAAAGGAAGGAAAAC 0.383 7 203 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97679333 97679333 + Missense_Mutation SNP C A A rs138260692 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:97679333C>A uc003ppb.2 - 13 1764 c.1498G>T c.(1498-1500)GGC>TGC p.G500C C6orf167_uc011eaf.1_Missense_Mutation_p.G460C|C6orf167_uc010kcn.1_Missense_Mutation_p.G274C NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 500 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) GGATGAGGGCCATTGCTCTTC 0.348 5 16 --- --- --- --- PASS PRDM13 59336 broad.mit.edu 37 6 100062259 100062259 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:100062259C>A uc003pqg.1 + 4 2009 c.1748C>A c.(1747-1749)TCG>TAG p.S583* NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 583 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) AAGCTGTACTCGCGCAAGTAT 0.453 13 13 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100896428 100896428 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:100896428C>T uc003pqj.3 - 6 877 c.670G>A c.(670-672)GAG>AAG p.E224K SIM1_uc010kcu.2_Missense_Mutation_p.E224K NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 224 PAS 2. 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) AGCTTGATCTCCGTGACGGCG 0.617 10 20 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112486384 112486384 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:112486384G>T uc003pvu.2 - 13 1955 c.1646C>A c.(1645-1647)TCA>TAA p.S549* LAMA4_uc003pvv.2_Nonsense_Mutation_p.S542*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.S542* NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 549 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATCAAGTTCTGAAAGAGTTAG 0.433 6 63 --- --- --- --- PASS FRK 2444 broad.mit.edu 37 6 116381198 116381198 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:116381198T>C uc003pwi.1 - 1 724 c.277A>G c.(277-279)AGT>GGT p.S93G NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 93 SH3. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AGTTGCTGACTGGAGCCATCT 0.473 62 118 --- --- --- --- PASS KPNA5 3841 broad.mit.edu 37 6 117043288 117043288 + Splice_Site SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:117043288G>T uc003pxh.2 + 9 888 c.757_splice c.e9-1 p.V253_splice NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(3)|skin(1) 4 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TTCCCTTACAGGTTTCACCTT 0.323 4 27 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128222064 128222064 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:128222064A>G uc003qbi.2 - 2 333 c.14T>C c.(13-15)CTG>CCG p.L5P THEMIS_uc011ebt.1_Missense_Mutation_p.L5P|THEMIS_uc010kfb.2_Intron NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 5 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GAATTCTTCCAGTGATAATGC 0.493 24 72 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129712691 129712691 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:129712691C>T uc003qbn.2 + 36 5232 c.5127C>T c.(5125-5127)GCC>GCT p.A1709A LAMA2_uc003qbo.2_Silent_p.A1709A NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1709 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGACGAGGCCTTTGAGAGAA 0.363 36 95 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152734570 152734570 + Silent SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:152734570A>G uc010kiw.2 - 42 6749 c.6147T>C c.(6145-6147)GAT>GAC p.D2049D SYNE1_uc003qot.3_Silent_p.D2056D|SYNE1_uc003qou.3_Silent_p.D2049D|SYNE1_uc010kjb.1_Silent_p.D2032D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2049 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAAAAGCTACATCTTTCTGGG 0.403 HNSCC(10;0.0054) 28 53 --- --- --- --- PASS TULP4 56995 broad.mit.edu 37 6 158923577 158923577 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:158923577A>G uc003qrf.2 + 13 4239 c.2882A>G c.(2881-2883)TAT>TGT p.Y961C TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 961 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCACCCCCGTATCCTGAAATT 0.662 10 11 --- --- --- --- PASS MAP3K4 4216 broad.mit.edu 37 6 161470015 161470015 + Silent SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:161470015A>T uc003qtn.2 + 3 853 c.711A>T c.(709-711)TCA>TCT p.S237S MAP3K4_uc010kkc.1_Silent_p.S237S|MAP3K4_uc003qto.2_Silent_p.S237S|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 237 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGCTTACCTCAGTCTCAAAGA 0.433 17 22 --- --- --- --- PASS KIAA0415 9907 broad.mit.edu 37 7 4820834 4820834 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:4820834T>A uc003sne.2 + 2 153 c.70T>A c.(70-72)TTC>ATC p.F24I KIAA0415_uc010ksp.2_RNA NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 24 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) GCTGAAGAAGTTCTGTTCCCG 0.542 29 29 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21521591 21521591 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:21521591G>A uc003sva.2 + 5 2138 c.1957G>A c.(1957-1959)GGA>AGA p.G653R SP4_uc003svb.2_Missense_Mutation_p.G340R NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 653 C2H2-type 1. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 TCATATTGAAGGATGTGGTAA 0.373 8 69 --- --- --- --- PASS KLHL7 55975 broad.mit.edu 37 7 23207573 23207573 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:23207573C>G uc003svs.3 + 9 1589 c.1296C>G c.(1294-1296)ATC>ATG p.I432M KLHL7_uc003svr.3_Missense_Mutation_p.I410M|KLHL7_uc011jys.1_Missense_Mutation_p.I356M|KLHL7_uc011jyt.1_Missense_Mutation_p.I207M|KLHL7_uc003svt.2_Missense_Mutation_p.I384M|KLHL7_uc011jyv.1_Intron NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 432 Kelch 4. Golgi apparatus|nucleolus|plasma membrane 0 ATGGCCTAATCTATGTTTGTG 0.443 31 58 --- --- --- --- PASS HOXA2 3199 broad.mit.edu 37 7 27141032 27141032 + Silent SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:27141032A>T uc003syh.2 - 2 719 c.444T>A c.(442-444)ACT>ACA p.T148T NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 148 Homeobox. nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TGGTGTAAGCAGTTCTCAGGC 0.537 11 10 --- --- --- --- PASS C7orf16 10842 broad.mit.edu 37 7 31736665 31736665 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:31736665G>C uc003tcl.2 + 4 480 c.322G>C c.(322-324)GAC>CAC p.D108H C7orf16_uc011kaf.1_Missense_Mutation_p.D57H NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 108 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) TCATAACACTGACCTGGAACA 0.458 29 59 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47979871 47979871 + Silent SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:47979871A>G uc003tny.1 - 3 204 c.204T>C c.(202-204)TGT>TGC p.C68C NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 68 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AAGGACAGCCACACTTCCCAT 0.473 38 37 --- --- --- --- PASS FKBP6 8468 broad.mit.edu 37 7 72756882 72756882 + Silent SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:72756882A>T uc003tya.2 + 8 1101 c.969A>T c.(967-969)ACA>ACT p.T323T FKBP6_uc003twz.2_Silent_p.T293T|FKBP6_uc011kew.1_Silent_p.T318T NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 323 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) ATGGTTCTACAGCAGGAGAAA 0.537 OREG0018106 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 68 --- --- --- --- PASS PHTF2 57157 broad.mit.edu 37 7 77539631 77539631 + Silent SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:77539631A>G uc003ugs.3 + 8 807 c.681A>G c.(679-681)ACA>ACG p.T227T PHTF2_uc003ugo.3_Silent_p.T189T|PHTF2_uc003ugp.2_Silent_p.T189T|PHTF2_uc003ugq.3_Silent_p.T189T|PHTF2_uc010ldv.2_Silent_p.T189T|PHTF2_uc003ugr.3_Silent_p.T193T|PHTF2_uc003ugt.3_Silent_p.T193T|PHTF2_uc003ugu.3_Silent_p.T189T|PHTF2_uc003ugv.2_Silent_p.T52T|PHTF2_uc010ldw.1_Silent_p.T52T NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 CAGATAACACACAAGAGGGAG 0.448 45 49 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87196249 87196249 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:87196249C>A uc003uiz.1 - 7 800 c.382G>T c.(382-384)GCT>TCT p.A128S ABCB1_uc011khc.1_Intron NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 128 ABC transmembrane type-1 1.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATGTAAGCAGCAACCAGCACC 0.403 9 53 --- --- --- --- PASS CLDN12 9069 broad.mit.edu 37 7 90042424 90042424 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:90042424C>G uc003ukp.2 + 5 1070 c.434C>G c.(433-435)ACT>AGT p.T145S CLDN12_uc003ukq.2_Missense_Mutation_p.T145S|CLDN12_uc010leq.2_Missense_Mutation_p.T145S|CLDN12_uc003ukr.2_Missense_Mutation_p.T145S|CLDN12_uc003uks.2_Missense_Mutation_p.T145S NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 145 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CTGGCAGGTACTGTGAGCCTC 0.488 11 68 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94174935 94174935 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:94174935C>T uc003uni.3 + 12 1782 c.1555C>T c.(1555-1557)CCC>TCC p.P519S CASD1_uc003unj.3_Missense_Mutation_p.P519S NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 519 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTACTTTGTCCCCTTGGTCAC 0.328 29 21 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100552224 100552224 + RNA SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:100552224T>C uc003uxk.1 + 1 c.1475T>C uc003uxl.1_Silent_p.T225T Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. GTCCAGGAACTATAACAATTA 0.493 77 304 --- --- --- --- PASS ZNHIT1 10467 broad.mit.edu 37 7 100866982 100866982 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:100866982A>G uc003uye.2 + 4 794 c.302A>G c.(301-303)TAC>TGC p.Y101C ZNHIT1_uc003uyf.2_RNA NM_006349 NP_006340 O43257 ZNHI1_HUMAN zinc finger, HIT domain containing 1 101 metal ion binding|protein binding large_intestine(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) GGCCCTAACTACCTGACGGCC 0.682 17 21 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107323902 107323902 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:107323902G>C uc003vep.2 + 8 1145 c.921G>C c.(919-921)ACG>ACC p.T307T NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 307 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TATTTCAGACGATAATTGCTA 0.348 Pendred_syndrome 19 35 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113519573 113519573 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:113519573C>T uc010ljy.1 - 4 1605 c.1574G>A c.(1573-1575)GGT>GAT p.G525D NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 525 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTCATTAACACCTAAATATAT 0.353 12 23 --- --- --- --- PASS FOXP2 93986 broad.mit.edu 37 7 114271687 114271687 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:114271687C>T uc003vhb.2 + 6 1076 c.702C>T c.(700-702)CTC>CTT p.L234L FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.L259L|FOXP2_uc003vha.2_Silent_p.L142L|FOXP2_uc011kmu.1_Silent_p.L251L|FOXP2_uc011kmv.1_Silent_p.L233L|FOXP2_uc010ljz.1_Silent_p.L142L|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.L234L|FOXP2_uc003vgx.2_Silent_p.L234L|FOXP2_uc003vhd.2_Silent_p.L234L|FOXP2_uc003vhc.2_Silent_p.L259L NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 234 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 AGCATCTGCTCAGCCTTCAGC 0.478 14 18 --- --- --- --- PASS TES 26136 broad.mit.edu 37 7 115892000 115892000 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:115892000G>T uc003vho.2 + 5 1070 c.889G>T c.(889-891)GAG>TAG p.E297* TES_uc011kmy.1_Nonsense_Mutation_p.E55*|TES_uc003vhp.2_Nonsense_Mutation_p.E288*|uc003vhq.1_5'Flank NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 297 LIM zinc-binding 1. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) CTGTGACAGCGAGAAACCCCG 0.493 31 32 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121753271 121753271 + Silent SNP C G G rs139733515 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:121753271C>G uc003vka.2 - 10 1275 c.1179G>C c.(1177-1179)TCG>TCC p.S393S AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.S393S|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 393 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TCAGGATCCCCGAGCCTTCAA 0.408 12 16 --- --- --- --- PASS LUC7L2 51631 broad.mit.edu 37 7 139030286 139030286 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:139030286C>T uc011kqt.1 + 2 412 c.178C>T c.(178-180)CAT>TAT p.H60Y LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.H60Y NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 Error:Variant_position_missing_in_Q9Y383_after_alignment enzyme binding|metal ion binding 0 Melanoma(164;0.242) ACATGAGCTTCATTTCCAAGC 0.507 14 42 --- --- --- --- PASS DENND2A 27147 broad.mit.edu 37 7 140301390 140301390 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:140301390G>A uc010lnj.2 - 1 953 c.808C>T c.(808-810)CGG>TGG p.R270W DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R270W|DENND2A_uc003vvw.2_Missense_Mutation_p.R270W|DENND2A_uc003vvx.2_Missense_Mutation_p.R270W NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 270 ovary(3)|breast(1) 4 Melanoma(164;0.00956) AACGTTCTCCGGGGTTTTGGC 0.498 65 96 --- --- --- --- PASS TAS2R38 5726 broad.mit.edu 37 7 141673168 141673168 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:141673168A>T uc003vwx.1 - 1 406 c.322T>A c.(322-324)TGG>AGG p.W108R NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 108 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) GCAGCAAGCCAGAGGTTGGCT 0.517 30 33 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141800656 141800656 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:141800656G>A uc003vwy.2 + 45 5295 c.5241G>A c.(5239-5241)GGG>GGA p.G1747G NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1747 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAACTGCTGGGGGCTGGCTCT 0.498 5 25 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142723686 142723686 + Silent SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:142723686C>G uc003wcc.1 - 1 534 c.534G>C c.(532-534)GGG>GGC p.G178G NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TGAGCAATTGCCCTCGGTCAC 0.398 33 49 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151878701 151878701 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:151878701T>C uc003wla.2 - 36 6463 c.6244A>G c.(6244-6246)ATA>GTA p.I2082V MLL3_uc003wkz.2_Missense_Mutation_p.I1143V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2082 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AAATTATCTATAGGTCTTGGT 0.458 N medulloblastoma 27 35 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2876056 2876056 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:2876056G>T uc011kwk.1 - 52 8365 c.7975C>A c.(7975-7977)CAT>AAT p.H2659N CSMD1_uc011kwj.1_Missense_Mutation_p.H1988N|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2659 Extracellular (Potential).|Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTCTGACATGAGACCCCACA 0.488 101 44 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3245035 3245035 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:3245035G>A uc011kwk.1 - 18 3156 c.2766C>T c.(2764-2766)CAC>CAT p.H922H CSMD1_uc011kwj.1_Silent_p.H314H|CSMD1_uc003wqe.2_Silent_p.H78H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 922 Extracellular (Potential).|Sushi 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGGCAAGGCGTGGTTCCACT 0.582 4 1 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 12957525 12957525 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:12957525A>T uc003wwm.2 - 9 2765 c.2321T>A c.(2320-2322)ATG>AAG p.M774K DLC1_uc003wwk.1_Missense_Mutation_p.M337K|DLC1_uc003wwl.1_Missense_Mutation_p.M371K|DLC1_uc011kxx.1_Missense_Mutation_p.M263K NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 774 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTCTAAGTACATGCCCACCCG 0.577 16 3 --- --- --- --- PASS CLU 1191 broad.mit.edu 37 8 27468014 27468014 + Silent SNP C A A rs141237968 byFrequency TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:27468014C>A uc003xfw.1 - 1 133 c.75G>T c.(73-75)ACG>ACT p.T25T CLU_uc010lux.1_5'UTR|CLU_uc003xfx.1_Silent_p.T25T|CLU_uc003xfy.1_Silent_p.T36T|CLU_uc003xfz.1_Silent_p.T77T NM_203339 NP_976084 P10909 CLUS_HUMAN clusterin isoform 2 25 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding ovary(2) 2 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TGTCTGAGACCGTCTGGTCCC 0.567 17 9 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30703523 30703523 + Nonsense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:30703523A>T uc003xil.2 - 1 3011 c.3011T>A c.(3010-3012)TTA>TAA p.L1004* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1004 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGCTTTTTTTAAGTGAACAAC 0.338 54 19 --- --- --- --- PASS HTRA4 203100 broad.mit.edu 37 8 38832580 38832580 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:38832580A>G uc003xmj.2 + 2 612 c.497A>G c.(496-498)AAT>AGT p.N166S NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 166 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CTCAGGAGGAATTACAACTTC 0.557 59 27 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52733199 52733199 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:52733199C>T uc003xqx.3 - 6 1127 c.786G>A c.(784-786)GAG>GAA p.E262E PCMTD1_uc011ldm.1_Silent_p.E132E|PCMTD1_uc003xqw.3_Silent_p.E262E|PCMTD1_uc011ldn.1_Silent_p.E74E|PCMTD1_uc010lya.2_Silent_p.E186E NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 262 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TGGCCTGCATCTCATCATTTA 0.408 7 102 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55534821 55534821 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:55534821G>T uc003xsd.1 + 3 908 c.760G>T c.(760-762)GGA>TGA p.G254* RP1_uc011ldy.1_Nonsense_Mutation_p.G254* NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 254 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTACCCCAAGGGAAATGCAAA 0.423 39 12 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616390 77616390 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:77616390G>T uc003yav.2 + 2 454 c.67G>T c.(67-69)GGA>TGA p.G23* ZFHX4_uc003yat.1_Nonsense_Mutation_p.G23*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.G23*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.G23* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 23 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGCTATGTGGAACGACACA 0.493 HNSCC(33;0.089) 5 53 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775461 77775461 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:77775461C>A uc003yav.2 + 11 9763 c.9376C>A c.(9376-9378)CCT>ACT p.P3126T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3122 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) tcctcctcctcctcctccttc 0.358 HNSCC(33;0.089) 18 9 --- --- --- --- PASS RALYL 138046 broad.mit.edu 37 8 85799928 85799928 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:85799928G>A uc003ycq.3 + 9 1191 c.775G>A c.(775-777)GCT>ACT p.A259T RALYL_uc003ycr.3_Missense_Mutation_p.A259T|RALYL_uc003ycs.3_Missense_Mutation_p.A259T|RALYL_uc010lzy.2_Missense_Mutation_p.A248T|RALYL_uc003yct.3_Missense_Mutation_p.A272T|RALYL_uc003ycu.3_Missense_Mutation_p.A186T|RALYL_uc003ycv.3_Intron NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 259 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 AGAGGAGCCTGCTGAAGGAGG 0.507 9 137 --- --- --- --- PASS CTHRC1 115908 broad.mit.edu 37 8 104390442 104390442 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:104390442C>T uc003ylk.2 + 3 659 c.560C>T c.(559-561)TCA>TTA p.S187L NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 187 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) GAAATGAATTCAACAATTAAT 0.373 8 46 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106815050 106815050 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:106815050A>G uc003ymd.2 + 8 2763 c.2740A>G c.(2740-2742)ATA>GTA p.I914V ZFPM2_uc011lhs.1_Missense_Mutation_p.I645V NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 914 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAGAAGCATAATAAAATGTGA 0.453 23 22 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120759010 120759010 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:120759010C>G uc003you.2 - 23 3313 c.3043G>C c.(3043-3045)GCA>CCA p.A1015P NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 1015 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGGTTGCCTGCTACTGACTCT 0.428 17 125 --- --- --- --- PASS ZNF34 80778 broad.mit.edu 37 8 145999031 145999031 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:145999031C>A uc003zdy.3 - 6 1405 c.1303G>T c.(1303-1305)GTG>TTG p.V435L ZNF34_uc010mgb.2_Missense_Mutation_p.V332L|ZNF34_uc003zdx.3_Missense_Mutation_p.V414L NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 435 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) TGATGTTCCACGAGTTTGGTT 0.413 39 13 --- --- --- --- PASS DMRT1 1761 broad.mit.edu 37 9 893917 893917 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:893917C>T uc003zgv.2 + 3 693 c.544C>T c.(544-546)CGT>TGT p.R182C DMRT1_uc003zgu.1_Missense_Mutation_p.R182C NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 182 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) TTTAGAGGGACGTATGGTCAT 0.448 OREG0019071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 18 --- --- --- --- PASS C9orf68 55064 broad.mit.edu 37 9 4605351 4605351 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:4605351T>C uc011llz.1 - 9 1149 c.911A>G c.(910-912)AAC>AGC p.N304S C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Missense_Mutation_p.N362S|C9orf68_uc011lly.1_Missense_Mutation_p.N239S NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN hypothetical protein LOC55064 304 0 Breast(48;0.0456) GBM - Glioblastoma multiforme(50;0.0222) TCTAACCTTGTTTTGGTGCAG 0.328 29 7 --- --- --- --- PASS C9orf72 203228 broad.mit.edu 37 9 27556758 27556758 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:27556758C>T uc003zqq.2 - 8 989 c.892G>A c.(892-894)GTC>ATC p.V298I NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 298 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) GCATACATGACTTGCCGGAAA 0.378 46 27 --- --- --- --- PASS UBAP1 51271 broad.mit.edu 37 9 34241647 34241647 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:34241647G>C uc003ztx.2 + 4 859 c.624G>C c.(622-624)GTG>GTC p.V208V UBAP1_uc010mka.1_Silent_p.V244V|UBAP1_uc003zty.2_Silent_p.V208V|UBAP1_uc011loi.1_Silent_p.V244V|UBAP1_uc011loj.1_Silent_p.V272V|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Silent_p.V208V NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 208 cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) CTGGGTCTGTGTTACAGGATG 0.483 13 162 --- --- --- --- PASS KIF24 347240 broad.mit.edu 37 9 34257596 34257596 + Missense_Mutation SNP G T T rs10972026 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:34257596G>T uc003zua.3 - 11 2129 c.2009C>A c.(2008-2010)TCT>TAT p.S670Y KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 670 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) ATTTTTCTCAGAGCACAATGG 0.527 11 443 --- --- --- --- PASS VCP 7415 broad.mit.edu 37 9 35061053 35061053 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:35061053C>A uc003zvy.2 - 11 1707 c.1318G>T c.(1318-1320)GAG>TAG p.E440* VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Nonsense_Mutation_p.E109*|VCP_uc010mki.1_Nonsense_Mutation_p.E395* NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 440 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TTCATGACCTCGGCATCAATG 0.527 11 882 --- --- --- --- PASS FAM166B 730112 broad.mit.edu 37 9 35563227 35563227 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:35563227C>A uc010mkr.2 - 2 293 c.222G>T c.(220-222)AGG>AGT p.R74S FAM166B_uc011lov.1_Missense_Mutation_p.R74S|FAM166B_uc011low.1_Missense_Mutation_p.R74S|FAM166B_uc003zwy.2_Missense_Mutation_p.R74S NM_001164310 NP_001157782 A8MTA8 F166B_HUMAN hypothetical protein LOC730112 isoform 1 74 0 GTAGACTCTCCCTGGGAACCT 0.617 12 552 --- --- --- --- PASS MSMP 692094 broad.mit.edu 37 9 35753243 35753243 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:35753243C>A uc003zyb.1 - 3 420 c.274G>T c.(274-276)GAG>TAG p.E92* NM_001044264 NP_001037729 Q1L6U9 MSMP_HUMAN PC3-secreted microprotein precursor 92 extracellular region 0 TGACGTACCTCACACCCAGCC 0.602 6 129 --- --- --- --- PASS NPR2 4882 broad.mit.edu 37 9 35807326 35807326 + Splice_Site SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:35807326G>T uc003zyd.2 + 18 2644 c.2644_splice c.e18-1 p.V882_splice NPR2_uc010mlb.2_Splice_Site_p.V858_splice NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ATCCCTTTTAGGTAGTGACAC 0.423 12 689 --- --- --- --- PASS TMEM8B 51754 broad.mit.edu 37 9 35853137 35853137 + Splice_Site SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:35853137G>T uc003zym.2 + 13 1982 c.967_splice c.e13-1 p.V323_splice TMEM8B_uc003zyo.2_Splice_Site_p.V323_splice NM_001042589 NP_001036054 A6NDV4 TMM8B_HUMAN transmembrane protein 8B isoform a cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding ovary(1) 1 TCTTTCTCTAGGTGCTGTATT 0.582 11 831 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73235238 73235238 + Missense_Mutation SNP C A A rs145000157 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:73235238C>A uc004aid.2 - 15 2091 c.1847G>T c.(1846-1848)CGT>CTT p.R616L TRPM3_uc004ahu.2_Missense_Mutation_p.R446L|TRPM3_uc004ahv.2_Missense_Mutation_p.R418L|TRPM3_uc004ahw.2_Missense_Mutation_p.R488L|TRPM3_uc004ahx.2_Missense_Mutation_p.R475L|TRPM3_uc004ahy.2_Missense_Mutation_p.R478L|TRPM3_uc004ahz.2_Missense_Mutation_p.R465L|TRPM3_uc004aia.2_Missense_Mutation_p.R463L|TRPM3_uc004aib.2_Missense_Mutation_p.R453L|TRPM3_uc004aic.2_Missense_Mutation_p.R616L NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 641 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CTCTTCTTCACGTTTCTTGGT 0.433 129 26 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79324805 79324805 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:79324805C>A uc010mpk.2 - 8 2509 c.2385G>T c.(2383-2385)GCG>GCT p.A795A NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 795 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTGGGAATGGCGCCACAGCTG 0.488 7 35 --- --- --- --- PASS GKAP1 80318 broad.mit.edu 37 9 86403544 86403544 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:86403544C>A uc004amy.2 - 5 906 c.410G>T c.(409-411)AGT>ATT p.S137I GKAP1_uc004amz.2_Missense_Mutation_p.S137I|GKAP1_uc011lsu.1_RNA NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 isoform a 137 Potential. signal transduction Golgi apparatus 0 TTCTAGTTTACTTAGTAACAA 0.303 4 107 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90500668 90500668 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:90500668C>A uc004app.3 + 4 1301 c.1266C>A c.(1264-1266)GTC>GTA p.V422V C9orf79_uc004apo.1_Silent_p.V234V NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 422 integral to membrane ovary(3) 3 CTCAGCAAGTCTCTGATGCCA 0.577 75 19 --- --- --- --- PASS FANCC 2176 broad.mit.edu 37 9 97864116 97864116 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:97864116T>A uc004avh.2 - 15 1812 c.1550A>T c.(1549-1551)GAG>GTG p.E517V NM_000136 NP_000127 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 517 protein complex assembly cytosol|nucleoplasm protein binding kidney(1) 1 Acute lymphoblastic leukemia(62;0.138) GTGAGTTATCTCAGCAGTGTG 0.473 D|Mis|N|F|S AML|leukemia Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 17 64 --- --- --- --- PASS IKBKAP 8518 broad.mit.edu 37 9 111640903 111640903 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:111640903C>A uc004bdm.3 - 34 4220 c.3700G>T c.(3700-3702)GAT>TAT p.D1234Y IKBKAP_uc004bdl.2_Missense_Mutation_p.D885Y|IKBKAP_uc011lwc.1_Missense_Mutation_p.D1120Y|IKBKAP_uc010mtq.2_Missense_Mutation_p.D885Y|IKBKAP_uc004bdk.2_Missense_Mutation_p.D238Y|IKBKAP_uc010mtp.2_RNA NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 1234 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 GAGAATATACCTTTCAGGTTT 0.498 8 175 --- --- --- --- PASS ZNF483 158399 broad.mit.edu 37 9 114296103 114296103 + Missense_Mutation SNP A C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:114296103A>C uc004bff.2 + 4 810 c.586A>C c.(586-588)AAG>CAG p.K196Q ZNF483_uc011lwq.1_Missense_Mutation_p.K196Q|ZNF483_uc004bfg.2_Missense_Mutation_p.K196Q NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 196 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GGAGCTATATAAGGAAGTGCT 0.408 6 64 --- --- --- --- PASS C10orf18 54906 broad.mit.edu 37 10 5799560 5799560 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:5799560T>C uc001iij.2 + 17 7435 c.6810T>C c.(6808-6810)GAT>GAC p.D2270D C10orf18_uc001iik.2_Silent_p.D1114D NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2270 ovary(1)|central_nervous_system(1) 2 ATGTTCTTGATCACACCTACC 0.438 43 159 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17156039 17156039 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:17156039C>A uc001ioo.2 - 8 922 c.870G>T c.(868-870)GGG>GGT p.G290G NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 290 EGF-like 3; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGGACAGGCCCCACAGTAGA 0.552 7 12 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31810412 31810412 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:31810412C>A uc001ivs.3 + 7 2212 c.2149C>A c.(2149-2151)CAG>AAG p.Q717K ZEB1_uc001ivr.3_Missense_Mutation_p.Q499K|ZEB1_uc010qee.1_Missense_Mutation_p.Q499K|ZEB1_uc010qef.1_Missense_Mutation_p.Q499K|ZEB1_uc009xlj.1_Missense_Mutation_p.Q643K|ZEB1_uc010qeg.1_Missense_Mutation_p.Q576K|ZEB1_uc009xlk.1_Missense_Mutation_p.Q499K|ZEB1_uc001ivt.3_Missense_Mutation_p.Q499K|ZEB1_uc001ivu.3_Missense_Mutation_p.Q718K|ZEB1_uc001ivv.3_Missense_Mutation_p.Q697K|ZEB1_uc010qeh.1_Missense_Mutation_p.Q650K|ZEB1_uc009xlo.1_Missense_Mutation_p.Q700K|ZEB1_uc009xlp.2_Missense_Mutation_p.Q701K NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 717 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CAGAAATACACAGGGTTACTT 0.453 16 41 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38345348 38345348 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:38345348G>C uc001izh.2 + 5 2471 c.2293G>C c.(2293-2295)GTA>CTA p.V765L ZNF33A_uc001izg.2_Missense_Mutation_p.V766L|ZNF33A_uc010qev.1_Missense_Mutation_p.V772L|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 765 C2H2-type 16. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 AAATCTCATTGTACATCAGAG 0.378 25 39 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49392662 49392662 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:49392662C>G uc001jgi.2 - 20 2638 c.2531G>C c.(2530-2532)AGG>ACG p.R844T FRMPD2_uc001jgh.2_Missense_Mutation_p.R812T|FRMPD2_uc001jgj.2_Missense_Mutation_p.R822T NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 844 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CTGGATCATCCTAACAGCCAT 0.408 16 25 --- --- --- --- PASS SAMD8 142891 broad.mit.edu 37 10 76910349 76910349 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:76910349G>A uc001jwx.1 + 2 166 c.63G>A c.(61-63)CTG>CTA p.L21L SAMD8_uc001jwy.1_Silent_p.L21L NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 21 SAM. sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTGTGTGGCTGAAGGATGAAG 0.453 23 26 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104135269 104135269 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:104135269G>C uc001kux.1 + 30 4051 c.3811G>C c.(3811-3813)GAG>CAG p.E1271Q GBF1_uc001kuy.1_Missense_Mutation_p.E1271Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1272Q NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1271 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CACACTGCTGGAGTGCATCGG 0.592 16 8 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106907389 106907389 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:106907389C>T uc001kyi.1 + 9 1544 c.1317C>T c.(1315-1317)ATC>ATT p.I439I NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 439 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) TGCACATCATCAGTACAGACG 0.458 11 19 --- --- --- --- PASS ABLIM1 3983 broad.mit.edu 37 10 116232760 116232760 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:116232760T>C uc010qsg.1 - 10 1350 c.1251A>G c.(1249-1251)AAA>AAG p.K417K ABLIM1_uc010qsh.1_Silent_p.K385K|ABLIM1_uc010qsi.1_Silent_p.K357K|ABLIM1_uc010qsk.1_Silent_p.K341K|ABLIM1_uc009xyp.2_Silent_p.K379K|ABLIM1_uc010qsf.1_Silent_p.K129K|ABLIM1_uc009xyn.2_Silent_p.K68K|ABLIM1_uc010qsj.1_Silent_p.K94K|ABLIM1_uc009xyo.2_Silent_p.K265K NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 417 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTCTCTCCTGTTTGTCATCAT 0.403 44 14 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129913759 129913759 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:129913759C>G uc001lke.2 - 7 1108 c.913G>C c.(913-915)GAG>CAG p.E305Q MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 305 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GAAGCAGGCTCTGCCACAGCG 0.552 4 20 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 133106547 133106547 + Silent SNP A C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr10:133106547A>C uc001lkp.2 - 3 683 c.597T>G c.(595-597)GCT>GCG p.A199A NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 199 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) ACAGAGACACAGCTACTTGAT 0.522 21 8 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1020215 1020215 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:1020215G>T uc001lsw.2 - 29 3734 c.3683C>A c.(3682-3684)ACC>AAC p.T1228N NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1228 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGATGGTGGTGGAGGTTCC 0.657 16 6 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5411036 5411036 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:5411036G>T uc010qzc.1 + 1 408 c.408G>T c.(406-408)GTG>GTT p.V136V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 136 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCGCCTTGTGGCCATCTGCC 0.517 83 37 --- --- --- --- PASS OR52H1 390067 broad.mit.edu 37 11 5566079 5566079 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:5566079G>T uc010qzh.1 - 1 675 c.675C>A c.(673-675)TCC>TCA p.S225S HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 225 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGTGCGTAGGAAACAGCAA 0.507 4 28 --- --- --- --- PASS FAR1 84188 broad.mit.edu 37 11 13729455 13729455 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:13729455T>C uc001mld.2 + 4 529 c.374T>C c.(373-375)GTT>GCT p.V125A FAR1_uc009ygp.2_Missense_Mutation_p.V125A NM_032228 NP_115604 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 125 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding ovary(1)|skin(1) 2 AGAGATGCTGTTCAGTTAAAT 0.343 16 1 --- --- --- --- PASS SPON1 10418 broad.mit.edu 37 11 14280884 14280884 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:14280884C>A uc001mle.2 + 13 2089 c.1551C>A c.(1549-1551)TGC>TGA p.C517* NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 517 TSP type-1 2. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GCATCTCCTGCGGCATGGGCA 0.632 8 3 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20668427 20668427 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:20668427C>G uc001mqd.2 + 14 2290 c.2017C>G c.(2017-2019)CCT>GCT p.P673A SLC6A5_uc009yic.2_Missense_Mutation_p.P438A NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 673 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TGGATTCCAGCCTAACATCTT 0.433 23 12 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20668428 20668428 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:20668428C>G uc001mqd.2 + 14 2291 c.2018C>G c.(2017-2019)CCT>CGT p.P673R SLC6A5_uc009yic.2_Missense_Mutation_p.P438R NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 673 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) GGATTCCAGCCTAACATCTTC 0.428 23 12 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26620410 26620410 + Silent SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:26620410A>T uc001mqt.3 + 16 1681 c.1536A>T c.(1534-1536)ACA>ACT p.T512T ANO3_uc010rdr.1_Silent_p.T496T|ANO3_uc010rds.1_Silent_p.T351T|ANO3_uc010rdt.1_Silent_p.T366T NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 512 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CATAGGAAACACTTCGTCCCC 0.393 6 14 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433025 55433025 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:55433025T>A uc001nht.3 + 3 648 c.383T>A c.(382-384)CTG>CAG p.L128Q OR4C6_uc010rik.1_Missense_Mutation_p.L128Q NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGTAAGCCCCTGCACTACACG 0.537 26 11 --- --- --- --- PASS TMEM132A 54972 broad.mit.edu 37 11 60704035 60704035 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:60704035G>C uc001nqj.2 + 11 2921 c.2728G>C c.(2728-2730)GAC>CAC p.D910H TMEM132A_uc001nqi.2_Missense_Mutation_p.D911H|TMEM132A_uc001nqm.2_Missense_Mutation_p.D120H NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 910 Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CCGCCAGCTGGACCGGCAGTC 0.721 3 7 --- --- --- --- PASS INTS5 80789 broad.mit.edu 37 11 62416108 62416108 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:62416108C>A uc001nud.2 - 2 1497 c.1444G>T c.(1444-1446)GGA>TGA p.G482* GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 482 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CACAGCTCTCCAACATGGTTT 0.602 5 76 --- --- --- --- PASS MRGPRF 116535 broad.mit.edu 37 11 68773711 68773711 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:68773711C>A uc001ooo.3 - 3 434 c.67G>T c.(67-69)GAG>TAG p.E23* MRGPRF_uc001oop.3_Nonsense_Mutation_p.E23* NM_001098515 NP_001091985 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 23 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCGGGGCCTCGCTCAGGCCA 0.667 3 9 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70009436 70009436 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:70009436G>A uc001opj.2 + 19 2245 c.1940G>A c.(1939-1941)CGA>CAA p.R647Q ANO1_uc001opk.1_Missense_Mutation_p.R589Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R356Q NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 647 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CGTTCCTTCCGAATGGAAGAG 0.517 10 13 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83344300 83344300 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:83344300C>A uc001paj.2 - 14 1882 c.1579G>T c.(1579-1581)GGG>TGG p.G527W DLG2_uc001pai.2_Missense_Mutation_p.G424W|DLG2_uc010rsy.1_Missense_Mutation_p.G494W|DLG2_uc010rsz.1_Missense_Mutation_p.G527W|DLG2_uc010rta.1_Missense_Mutation_p.G527W|DLG2_uc001pak.2_Missense_Mutation_p.G632W|DLG2_uc010rtb.1_Missense_Mutation_p.G494W|DLG2_uc001pal.1_Missense_Mutation_p.G527W|DLG2_uc010rsw.1_Missense_Mutation_p.G9W|DLG2_uc010rsx.1_Missense_Mutation_p.G8W NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 527 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GATCCGGACCCGGAGCTCATG 0.468 25 10 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100061878 100061878 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:100061878G>T uc001pga.2 + 14 1940 c.1601G>T c.(1600-1602)GGG>GTG p.G534V CNTN5_uc009ywv.1_Missense_Mutation_p.G534V|CNTN5_uc001pfz.2_Missense_Mutation_p.G534V|CNTN5_uc001pgb.2_Missense_Mutation_p.G460V|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 534 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTCCAGACGGGAGTCTACGG 0.368 18 11 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105623843 105623843 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:105623843C>G uc001pix.2 + 4 830 c.384C>G c.(382-384)AGC>AGG p.S128R GRIA4_uc001piu.1_Missense_Mutation_p.S128R|GRIA4_uc001piw.2_Missense_Mutation_p.S128R|GRIA4_uc001piv.2_Missense_Mutation_p.S128R|GRIA4_uc009yxk.1_Missense_Mutation_p.S128R NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 128 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGGGGGAGAGCCAGTTTGTGC 0.473 26 11 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105795143 105795143 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:105795143G>T uc001pix.2 + 12 1941 c.1495G>T c.(1495-1497)GCC>TCC p.A499S GRIA4_uc001piw.2_Missense_Mutation_p.A499S NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 499 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GATTGCTATTGCCCCTCTGAC 0.383 36 10 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106680751 106680751 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:106680751C>G uc001pjg.1 - 5 2050 c.1660G>C c.(1660-1662)GAC>CAC p.D554H GUCY1A2_uc010rvo.1_Missense_Mutation_p.D575H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.D554H NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 554 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CACTGGTGGTCAAATCTGGTG 0.358 4 18 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108380315 108380315 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:108380315G>T uc001pkk.2 - 6 6030 c.5919C>A c.(5917-5919)ACC>ACA p.T1973T EXPH5_uc010rvy.1_Silent_p.T1785T|EXPH5_uc010rvz.1_Silent_p.T1817T|EXPH5_uc010rwa.1_Silent_p.T1897T NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1973 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CATCATCTGTGGTTGTGTCTG 0.403 6 76 --- --- --- --- PASS BACE1 23621 broad.mit.edu 37 11 117160476 117160476 + Silent SNP A G G rs138594731 byFrequency TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:117160476A>G uc001pqz.2 - 9 1773 c.1312T>C c.(1312-1314)TTG>CTG p.L438L BACE1_uc001pqw.2_Silent_p.L413L|BACE1_uc001pqx.2_Silent_p.L369L|BACE1_uc001pqy.2_Silent_p.L394L|BACE1_uc010rxg.1_Silent_p.L313L|BACE1_uc010rxh.1_Silent_p.L338L|uc010rxi.1_5'Flank NM_012104 NP_036236 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 isoform A 438 Extracellular (Potential). beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding ovary(1) 1 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) TCCATGTCCAAGGTGACAAAA 0.368 15 7 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440879 124440879 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:124440879C>A uc010san.1 + 1 915 c.915C>A c.(913-915)ATC>ATA p.I305I NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 305 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ATCCCCTAATCTACAGCCTGA 0.443 20 8 --- --- --- --- PASS PATE1 160065 broad.mit.edu 37 11 125618497 125618497 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:125618497G>T uc001qct.2 + 5 262 c.250G>T c.(250-252)GAT>TAT p.D84Y PATE1_uc009zbr.2_Missense_Mutation_p.D72Y NM_138294 NP_612151 Q8WXA2 PATE1_HUMAN expressed in prostate and testis precursor 84 extracellular region 0 CTCCACAGGGGATGGTAATCC 0.448 13 8 --- --- --- --- PASS FAM118B 79607 broad.mit.edu 37 11 126126634 126126634 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:126126634G>T uc001qdf.2 + 7 1052 c.869G>T c.(868-870)CGA>CTA p.R290L FAM118B_uc009zca.2_Missense_Mutation_p.R294L|FAM118B_uc001qdg.2_Missense_Mutation_p.R290L NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 290 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) AAAAAGCTTCGAGAAAACATG 0.443 4 99 --- --- --- --- PASS ZNF705A 440077 broad.mit.edu 37 12 8330139 8330139 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:8330139T>A uc001qud.1 + 5 935 c.863T>A c.(862-864)CTA>CAA p.L288Q FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) GCTTGTCTTCTATGTGGGAAG 0.418 9 46 --- --- --- --- PASS CLEC4E 26253 broad.mit.edu 37 12 8689737 8689737 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:8689737C>A uc001quo.1 - 4 511 c.346G>T c.(346-348)GTG>TTG p.V116L NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 116 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) TTGATAACCACCAGGTGAGCC 0.478 20 14 --- --- --- --- PASS CLEC1B 51266 broad.mit.edu 37 12 10149584 10149584 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:10149584C>A uc001qwu.2 - 4 499 c.299G>T c.(298-300)AGC>ATC p.S100I CLEC1B_uc009zhd.2_Missense_Mutation_p.S67I NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 100 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 GTCACAGGGGCTGCATTTATG 0.413 33 44 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14633957 14633957 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:14633957A>G uc001rbw.2 + 13 3276 c.3118A>G c.(3118-3120)ACA>GCA p.T1040A ATF7IP_uc001rbv.1_Missense_Mutation_p.T1039A|ATF7IP_uc001rbx.2_Missense_Mutation_p.T1039A|ATF7IP_uc001rby.3_Missense_Mutation_p.T1040A|ATF7IP_uc001rca.2_Missense_Mutation_p.T1040A NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1040 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 CGTGAATGTAACACATCGTCC 0.423 41 65 --- --- --- --- PASS FAM60A 58516 broad.mit.edu 37 12 31448254 31448254 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:31448254G>T uc010sjz.1 - 3 381 c.142C>A c.(142-144)CGT>AGT p.R48S FAM60A_uc001rkd.2_Missense_Mutation_p.R48S|FAM60A_uc010ska.1_Missense_Mutation_p.R48S|FAM60A_uc001rke.2_Missense_Mutation_p.R48S|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.R73S NM_021238 NP_067061 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 48 0 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) TCTCCTGAACGAGTCTCATGC 0.383 4 44 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40692290 40692290 + Missense_Mutation SNP A T T rs35808389 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:40692290A>T uc001rmg.3 + 24 3463 c.3342A>T c.(3340-3342)TTA>TTT p.L1114F LRRK2_uc001rmh.1_Missense_Mutation_p.L736F|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1114 LRR 6. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGCTCATTTTAGAAGGGTAAG 0.343 46 61 --- --- --- --- PASS PPHLN1 51535 broad.mit.edu 37 12 42729762 42729762 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:42729762C>A uc001rng.1 + 2 163 c.58C>A c.(58-60)CGA>AGA p.R20R PPHLN1_uc001rmy.2_Silent_p.R38R|PPHLN1_uc001rna.2_Silent_p.R27R|PPHLN1_uc001rne.2_Silent_p.R27R|PPHLN1_uc001rnb.2_Silent_p.R27R|PPHLN1_uc001rnd.2_Silent_p.R27R|PPHLN1_uc001rnc.2_Silent_p.R20R|PPHLN1_uc001rnf.2_Silent_p.R20R|PPHLN1_uc010skq.1_Silent_p.R20R|PPHLN1_uc010skr.1_Silent_p.R20R|PPHLN1_uc010sks.1_Silent_p.R20R|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Silent_p.R20R|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Silent_p.R27R NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN periphilin 1 isoform 1 20 keratinization cytoplasm|nucleus ovary(1)|breast(1) 2 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) AGCACCTCCTCGAAGTCATCC 0.368 4 97 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49949466 49949466 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:49949466G>C uc001ruh.1 + 12 2460 c.2200G>C c.(2200-2202)GAT>CAT p.D734H KCNH3_uc010smj.1_Missense_Mutation_p.D674H NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 734 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 GAAGGAGACAGATGGGGAGCA 0.637 5 20 --- --- --- --- PASS KRT84 3890 broad.mit.edu 37 12 52778981 52778981 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:52778981C>A uc001sah.1 - 1 437 c.389G>T c.(388-390)GGA>GTA p.G130V NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 130 Head. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTGGGACTCCAACCCCTCC 0.572 58 81 --- --- --- --- PASS KRT74 121391 broad.mit.edu 37 12 52962040 52962040 + Missense_Mutation SNP C G G rs139298074 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:52962040C>G uc001sap.1 - 7 1316 c.1268G>C c.(1267-1269)CGC>CCC p.R423P NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 423 Rod.|Coil 2. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) CTGGTACTCGCGCAGCATCCG 0.652 24 44 --- --- --- --- PASS KRT74 121391 broad.mit.edu 37 12 52967522 52967522 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:52967522C>A uc001sap.1 - 1 88 c.40G>T c.(40-42)GGC>TGC p.G14C NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 14 Head.|Gly-rich. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) CTGAAGTTGCCCTTGTCACCA 0.557 32 37 --- --- --- --- PASS KRT77 374454 broad.mit.edu 37 12 53091506 53091506 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:53091506C>A uc001saw.2 - 2 747 c.718G>T c.(718-720)GTC>TTC p.V240F KRT77_uc009zmi.2_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 240 Coil 1B.|Rod. keratin filament structural molecule activity ovary(1) 1 ATGCTCCTGACCTCCGCGTTC 0.592 30 331 --- --- --- --- PASS OR6C75 390323 broad.mit.edu 37 12 55759748 55759748 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:55759748C>T uc010spk.1 + 1 854 c.854C>T c.(853-855)CCC>CTC p.P285L NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 CTCTTGAATCCCTTCATATAC 0.383 12 49 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62894643 62894643 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:62894643G>T uc001sre.2 + 6 1037 c.646G>T c.(646-648)GCA>TCA p.A216S MON2_uc009zqj.2_Missense_Mutation_p.A216S|MON2_uc010ssl.1_Missense_Mutation_p.A144S|MON2_uc010ssm.1_Missense_Mutation_p.A216S|MON2_uc010ssn.1_Missense_Mutation_p.A216S|MON2_uc001srf.2_5'Flank|MON2_uc001srd.1_Missense_Mutation_p.A108S NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 216 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TGCTAAAGATGCATATATGCT 0.303 32 41 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62894645 62894645 + Silent SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:62894645A>T uc001sre.2 + 6 1039 c.648A>T c.(646-648)GCA>GCT p.A216A MON2_uc009zqj.2_Silent_p.A216A|MON2_uc010ssl.1_Silent_p.A144A|MON2_uc010ssm.1_Silent_p.A216A|MON2_uc010ssn.1_Silent_p.A216A|MON2_uc001srf.2_5'Flank|MON2_uc001srd.1_Silent_p.A108A NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 216 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CTAAAGATGCATATATGCTTT 0.294 32 41 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71095029 71095029 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:71095029G>A uc001swi.1 - 7 1498 c.1082C>T c.(1081-1083)ACA>ATA p.T361I PTPRR_uc001swh.1_Missense_Mutation_p.T116I|PTPRR_uc009zrs.2_Missense_Mutation_p.T210I|PTPRR_uc010stq.1_Missense_Mutation_p.T249I|PTPRR_uc010str.1_Missense_Mutation_p.T210I NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 361 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CTCCCGTGGTGTTGGTATAGA 0.463 6 78 --- --- --- --- PASS E2F7 144455 broad.mit.edu 37 12 77419463 77419463 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:77419463G>A uc001sym.3 - 12 2676 c.2440C>T c.(2440-2442)CCT>TCT p.P814S E2F7_uc009zse.2_Intron NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 814 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 TGAAGCTGAGGGTCTGCAGAA 0.537 17 52 --- --- --- --- PASS MGAT4C 25834 broad.mit.edu 37 12 86373490 86373490 + Silent SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:86373490A>T uc001tai.3 - 8 2264 c.1014T>A c.(1012-1014)CCT>CCA p.P338P MGAT4C_uc001tal.3_Silent_p.P338P|MGAT4C_uc001taj.3_Silent_p.P338P|MGAT4C_uc001tak.3_Silent_p.P338P|MGAT4C_uc010sum.1_Silent_p.P362P|MGAT4C_uc001tah.3_Silent_p.P338P NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 338 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 GGGGGTTATCAGGAATGTCAA 0.408 20 34 --- --- --- --- PASS FGD6 55785 broad.mit.edu 37 12 95488424 95488424 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:95488424T>A uc001tdp.3 - 15 3768 c.3544A>T c.(3544-3546)ATA>TTA p.I1182L FGD6_uc009zsx.2_Missense_Mutation_p.I315L|FGD6_uc001tdq.1_Missense_Mutation_p.I218L NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1182 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 TACTCTTCTATTGCCCTGGAA 0.378 12 44 --- --- --- --- PASS NUP37 79023 broad.mit.edu 37 12 102492903 102492903 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:102492903T>A uc001tjc.2 - 4 495 c.430A>T c.(430-432)AGT>TGT p.S144C NUP37_uc009zub.1_Missense_Mutation_p.S144C NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 144 WD 2. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 TGATCGTCACTCACACTTGCA 0.343 18 20 --- --- --- --- PASS KIAA1033 23325 broad.mit.edu 37 12 105551091 105551091 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:105551091A>G uc001tld.2 + 28 2990 c.2903A>G c.(2902-2904)AAA>AGA p.K968R KIAA1033_uc010swr.1_Missense_Mutation_p.K969R|KIAA1033_uc010sws.1_Missense_Mutation_p.K780R NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 968 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 GAAACATTAAAAGCAGCAAGG 0.303 26 31 --- --- --- --- PASS SSH1 54434 broad.mit.edu 37 12 109201450 109201450 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:109201450C>A uc001tnm.2 - 8 777 c.690G>T c.(688-690)CTG>CTT p.L230L SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Silent_p.L241L|SSH1_uc001tnn.3_Silent_p.L230L|SSH1_uc001tno.1_Silent_p.L134L NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 230 L -> P (in Ref. 1; BAB84116). actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 GCGTAGACTCCAGGTCCTGCA 0.617 6 49 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112688130 112688130 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:112688130C>A uc009zwc.2 - 18 2520 c.2502G>T c.(2500-2502)CCG>CCT p.P834P C12orf51_uc010syk.1_Silent_p.P656P|C12orf51_uc001tts.2_Silent_p.P647P|C12orf51_uc001ttt.3_Silent_p.P645P NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GAGAGGGGCTCGGAGTAAGGG 0.542 4 55 --- --- --- --- PASS SDS 10993 broad.mit.edu 37 12 113837484 113837484 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:113837484C>A uc001tvg.2 - 2 152 c.30G>T c.(28-30)AAG>AAT p.K10N SDS_uc001tvh.1_Missense_Mutation_p.K10N NM_006843 NP_006834 P20132 SDHL_HUMAN serine dehydratase 10 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding pancreas(1) 1 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGATGGGGGTCTTCACGTGCA 0.602 6 7 --- --- --- --- PASS P2RX7 5027 broad.mit.edu 37 12 121592748 121592748 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:121592748C>A uc001tzm.2 + 2 382 c.286C>A c.(286-288)CCT>ACT p.P96T P2RX7_uc001tzn.2_5'UTR|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_5'UTR|P2RX7_uc001tzq.2_5'UTR NM_002562 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X7 96 integral to membrane ATP binding|ion channel activity|receptor activity large_intestine(2)|lung(1)|breast(1)|skin(1) 5 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTACACCTTCCCTTTGCAGGT 0.567 5 64 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124317842 124317842 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:124317842A>G uc001uft.3 + 26 4398 c.4373A>G c.(4372-4374)CAA>CGA p.Q1458R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1458 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCTTTTCTGCAAACTGTTCAC 0.423 17 18 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558710 129558710 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:129558710G>T uc009zyl.1 - 9 3338 c.3010C>A c.(3010-3012)CTC>ATC p.L1004I TMEM132D_uc001uia.2_Missense_Mutation_p.L542I NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 1004 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTTGTGCTGAGGAGATATTTA 0.463 5 68 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23906110 23906110 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:23906110G>A uc001uon.2 - 10 12494 c.11905C>T c.(11905-11907)CTT>TTT p.L3969F SACS_uc001uoo.2_Missense_Mutation_p.L3822F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3969 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CGAGGTCTAAGTTTTTGAGGA 0.393 10 76 --- --- --- --- PASS MIPEP 4285 broad.mit.edu 37 13 24380178 24380178 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:24380178G>T uc001uox.3 - 16 1859 c.1759C>A c.(1759-1761)CAT>AAT p.H587N NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 587 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TGCTTCCCATGGTAGATTTGA 0.413 6 83 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25026687 25026687 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:25026687G>C uc001upl.2 - 24 2977 c.2871C>G c.(2869-2871)CTC>CTG p.L957L PARP4_uc010tdc.1_Silent_p.L957L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 957 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TAAGATATCGGAGTGTTTTCC 0.493 39 42 --- --- --- --- PASS PAN3 255967 broad.mit.edu 37 13 28794441 28794441 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:28794441C>A uc001urz.2 + 5 496 c.488C>A c.(487-489)TCA>TAA p.S163* PAN3_uc010tdo.1_Nonsense_Mutation_p.S309*|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Nonsense_Mutation_p.S109* NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 309 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GTGTCCCAGTCAAATATGTCT 0.428 34 203 --- --- --- --- PASS KL 9365 broad.mit.edu 37 13 33638087 33638087 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:33638087T>A uc001uus.2 + 5 2811 c.2803T>A c.(2803-2805)TTT>ATT p.F935I NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 935 Glycosyl hydrolase-1 2.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGCAGATCAGTTTGAGCCCAA 0.448 40 32 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35517158 35517158 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:35517158C>T uc001uvb.2 + 2 407 c.201C>T c.(199-201)ATC>ATT p.I67I NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 67 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CGGTGCCGATCCGCAACATCC 0.532 20 44 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39271908 39271908 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:39271908T>C uc001uwv.2 + 2 5556 c.5247T>C c.(5245-5247)TTT>TTC p.F1749F NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1749 Extracellular (Potential).|CSPG 12. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTTCTATTTTGCAGTTGAAG 0.393 4 33 --- --- --- --- PASS KIAA0564 23078 broad.mit.edu 37 13 42385440 42385440 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:42385440G>C uc001uyj.2 - 17 2054 c.1984C>G c.(1984-1986)CTG>GTG p.L662V KIAA0564_uc001uyk.2_Missense_Mutation_p.L662V NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 662 extracellular region ATP binding|ATPase activity p.L662L(1) ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) ATTCGCAACAGTTGTCTGGTA 0.393 4 73 --- --- --- --- PASS COG3 83548 broad.mit.edu 37 13 46085956 46085956 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:46085956A>T uc001vak.2 + 16 1877 c.1776A>T c.(1774-1776)TTA>TTT p.L592F COG3_uc001vaj.1_Missense_Mutation_p.L592F|COG3_uc010tfv.1_Missense_Mutation_p.L429F|COG3_uc010aci.2_Missense_Mutation_p.L368F NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 592 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) TTCAGTCCTTACTTGGAGCGT 0.398 17 16 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67800610 67800610 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:67800610G>T uc001vik.2 - 2 2655 c.1963C>A c.(1963-1965)CGT>AGT p.R655S PCDH9_uc001vil.2_Missense_Mutation_p.R655S|PCDH9_uc010thl.1_Missense_Mutation_p.R655S|PCDH9_uc001vin.3_Missense_Mutation_p.R655S NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 655 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTAGAGGAACGAGGTGGTTGT 0.433 4 60 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76382282 76382282 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:76382282G>T uc001vjv.2 + 7 1924 c.1164G>T c.(1162-1164)GAG>GAT p.E388D LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E294D NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 673 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AGAGATGGGAGGCCATCCGGG 0.532 16 17 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108861116 108861116 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:108861116T>A uc001vqn.2 - 2 2774 c.2501A>T c.(2500-2502)GAG>GTG p.E834V LIG4_uc001vqo.2_Missense_Mutation_p.E834V|LIG4_uc010agg.1_Missense_Mutation_p.E767V|LIG4_uc010agf.2_Missense_Mutation_p.E834V|LIG4_uc001vqp.2_Missense_Mutation_p.E834V NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 834 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CCTTGTCCCCTCATTTTTGGT 0.428 NHEJ 21 33 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20215703 20215703 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:20215703C>A uc010tkt.1 + 1 117 c.117C>A c.(115-117)GTC>GTA p.V39V NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGCTATTGTCCTGGGAAACC 0.383 41 43 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20215704 20215704 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:20215704C>G uc010tkt.1 + 1 118 c.118C>G c.(118-120)CTG>GTG p.L40V NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L40L(3) breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCTATTGTCCTGGGAAACCT 0.388 44 41 --- --- --- --- PASS AP4S1 11154 broad.mit.edu 37 14 31549788 31549788 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:31549788G>T uc001wqy.3 + 5 686 c.304G>T c.(304-306)GAT>TAT p.D102Y AP4S1_uc001wqw.3_Missense_Mutation_p.D102Y|AP4S1_uc001wqx.3_Missense_Mutation_p.D102Y|AP4S1_uc010amh.2_Intron|AP4S1_uc001wqz.3_Intron NM_001128126 NP_001121598 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 102 coated pit|Golgi apparatus protein transporter activity 0 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) GAGTGAATTAGATGTATCCTT 0.443 4 22 --- --- --- --- PASS SLC10A1 6554 broad.mit.edu 37 14 70245986 70245986 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:70245986G>T uc001xlr.2 - 3 793 c.659C>A c.(658-660)CCA>CAA p.P220Q NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 220 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) AATCAAGAGTGGTGTCATGGC 0.488 5 34 --- --- --- --- PASS TMEM63C 57156 broad.mit.edu 37 14 77686394 77686394 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:77686394C>A uc001xtf.2 + 5 488 c.276C>A c.(274-276)CCC>CCA p.P92P TMEM63C_uc010asq.1_Silent_p.P92P NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 92 integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) AGACATCTCCCTCGGAGACTT 0.547 3 5 --- --- --- --- PASS ADCK1 57143 broad.mit.edu 37 14 78353520 78353520 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:78353520G>C uc001xui.2 + 5 609 c.510G>C c.(508-510)GGG>GGC p.G170G ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Silent_p.G102G|ADCK1_uc001xuk.1_Silent_p.G44G NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 177 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TGCATGATGGGCGGACGGTGG 0.607 17 5 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 80130287 80130287 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:80130287C>A uc001xun.2 + 14 2983 c.2492C>A c.(2491-2493)CCT>CAT p.P831H NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.P199H|NRXN3_uc010asw.2_Missense_Mutation_p.P199H|NRXN3_uc001xur.3_Missense_Mutation_p.P199H NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1204 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAACATTATCCTACAGGTACA 0.478 12 3 --- --- --- --- PASS CINP 51550 broad.mit.edu 37 14 102816311 102816311 + Silent SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr14:102816311A>G uc001ylv.1 - 4 446 c.381T>C c.(379-381)TAT>TAC p.Y127Y CINP_uc001ylu.1_RNA NM_032630 NP_116019 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2-interacting protein 127 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(1) 1 TCTCCTCCCCATAATGGTAGT 0.408 23 13 --- --- --- --- PASS VPS39 23339 broad.mit.edu 37 15 42459085 42459085 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:42459085C>A uc001zpd.2 - 15 1588 c.1437G>T c.(1435-1437)TTG>TTT p.L479F VPS39_uc001zpc.2_Missense_Mutation_p.L468F|VPS39_uc001zpb.2_5'Flank NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 479 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CCAGGCGTAGCAAGGGGGCCA 0.562 10 28 --- --- --- --- PASS SLC30A4 7782 broad.mit.edu 37 15 45814396 45814396 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:45814396C>A uc001zvj.2 - 2 469 c.157G>T c.(157-159)GAC>TAC p.D53Y C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 53 Cytoplasmic (Potential).|Asp-rich (acidic). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TCGGAACCGTCATCGGCCACC 0.572 21 30 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48056121 48056121 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:48056121G>C uc010bek.2 + 10 1182 c.822G>C c.(820-822)TGG>TGC p.W274C SEMA6D_uc001zvw.2_Missense_Mutation_p.W274C|SEMA6D_uc001zvx.1_Missense_Mutation_p.W274C|SEMA6D_uc001zvy.2_Missense_Mutation_p.W274C|SEMA6D_uc001zvz.2_Missense_Mutation_p.W274C|SEMA6D_uc001zwa.2_Missense_Mutation_p.W274C|SEMA6D_uc001zwb.2_Missense_Mutation_p.W274C|SEMA6D_uc001zwc.2_Missense_Mutation_p.W274C NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 274 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGAAACACTGGACTTCATTTC 0.468 32 48 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50190438 50190438 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:50190438A>G uc001zxu.2 - 22 2442 c.2300T>C c.(2299-2301)CTA>CCA p.L767P ATP8B4_uc010ber.2_Missense_Mutation_p.L640P|ATP8B4_uc010ufd.1_Missense_Mutation_p.L577P|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.L65P NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 767 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATCACTTTCTAGGGCATGAGC 0.383 15 17 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305821 54305821 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:54305821G>A uc002ack.2 + 1 721 c.721G>A c.(721-723)GAT>AAT p.D241N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 241 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CCAAACACATGATGTCATGGA 0.448 42 49 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305932 54305932 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:54305932T>A uc002ack.2 + 1 832 c.832T>A c.(832-834)TCC>ACC p.S278T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 278 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CGATGAGATCTCCAGCAGTGT 0.438 42 67 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54592473 54592473 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:54592473G>C uc002ack.2 + 11 4170 c.4170G>C c.(4168-4170)GGG>GGC p.G1390G UNC13C_uc002acl.2_Silent_p.G220G NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1390 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAGTCAAAGGGGATGAAGCCT 0.368 9 5 --- --- --- --- PASS SLTM 79811 broad.mit.edu 37 15 59225621 59225621 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:59225621G>C uc002afp.2 - 1 232 c.144C>G c.(142-144)CTC>CTG p.L48L SLTM_uc002afo.2_Silent_p.L48L|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_5'UTR|SLTM_uc002afr.1_Silent_p.L48L NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 48 SAP. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 GTCGGGAGATGAGCACGGTCT 0.637 3 7 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65499327 65499327 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:65499327G>T uc002aon.2 - 4 398 c.217C>A c.(217-219)CGG>AGG p.R73R NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 73 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.R73Q(1) ovary(4)|pancreas(2)|skin(1) 7 GCGTCCAGCCGCTCATAGTCG 0.612 7 15 --- --- --- --- PASS PIAS1 8554 broad.mit.edu 37 15 68378917 68378917 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:68378917G>T uc002aqz.2 + 2 394 c.298G>T c.(298-300)GAT>TAT p.D100Y PIAS1_uc010ujx.1_Missense_Mutation_p.D100Y NM_016166 NP_057250 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 100 androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1) 2 ACTCACTTACGATGGTCACCC 0.478 4 114 --- --- --- --- PASS MSLNL 401827 broad.mit.edu 37 16 823224 823224 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:823224G>A uc002cjz.1 - 10 2044 c.2044C>T c.(2044-2046)CTG>TTG p.L682L NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 331 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CAGCCATCCAGGCAGGACTCA 0.632 21 14 --- --- --- --- PASS TELO2 9894 broad.mit.edu 37 16 1557674 1557674 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:1557674G>T uc002cly.2 + 20 2655 c.2364G>T c.(2362-2364)GAG>GAT p.E788D NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 788 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) GCCTGCTGGAGGACCTGATGG 0.662 4 8 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2331382 2331382 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:2331382C>A uc002cpy.1 - 27 4876 c.4164G>T c.(4162-4164)AAG>AAT p.K1388N ABCA3_uc010bsk.1_Missense_Mutation_p.K1330N NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1388 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GCAAGGGTACCTTGGAGAGCT 0.607 5 62 --- --- --- --- PASS ZNF213 7760 broad.mit.edu 37 16 3187644 3187644 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:3187644G>A uc010uws.1 + 2 810 c.363G>A c.(361-363)GAG>GAA p.E121E ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_Silent_p.E121E|ZNF213_uc010bth.2_Silent_p.E121E|ZNF213_uc010uwt.1_Silent_p.E121E NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 121 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCTTGGTGGAGGACCTACAGA 0.627 8 4 --- --- --- --- PASS NLRC3 197358 broad.mit.edu 37 16 3614540 3614540 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:3614540C>T uc010btn.2 - 5 809 c.398G>A c.(397-399)CGG>CAG p.R133Q NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 133 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GACAGACACCCGGGAGAGAGG 0.701 7 11 --- --- --- --- PASS NLRC3 197358 broad.mit.edu 37 16 3614541 3614541 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:3614541G>T uc010btn.2 - 5 808 c.397C>A c.(397-399)CGG>AGG p.R133R NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 133 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ACAGACACCCGGGAGAGAGGC 0.701 7 12 --- --- --- --- PASS ADCY9 115 broad.mit.edu 37 16 4163760 4163760 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:4163760G>T uc002cvx.2 - 2 2223 c.1684C>A c.(1684-1686)CAG>AAG p.Q562K NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 562 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CCTTTCAACTGGTCAGCAACC 0.468 5 85 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20335151 20335151 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:20335151C>A uc002dgv.2 - 3 605 c.522G>T c.(520-522)CTG>CTT p.L174L GP2_uc002dgw.2_Silent_p.L174L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 174 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 TGCAGTATCTCAGATTACACC 0.572 8 8 --- --- --- --- PASS COG7 91949 broad.mit.edu 37 16 23456434 23456434 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:23456434A>T uc002dlo.2 - 3 558 c.370T>A c.(370-372)TCT>ACT p.S124T NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 124 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) TCCTGAAGAGATTCGGCAGCA 0.453 8 87 --- --- --- --- PASS RBBP6 5930 broad.mit.edu 37 16 24583481 24583481 + Silent SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:24583481C>G uc002dmh.2 + 18 6134 c.5094C>G c.(5092-5094)GTC>GTG p.V1698V RBBP6_uc002dmi.2_Silent_p.V1664V|RBBP6_uc010bxr.2_Silent_p.V858V|RBBP6_uc002dmk.2_Silent_p.V1531V NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1698 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GCCCCAGCGTCAGCCCCAGCA 0.443 8 31 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24922792 24922792 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:24922792C>A uc002dmu.2 + 16 2198 c.1966C>A c.(1966-1968)CTG>ATG p.L656M SLC5A11_uc002dms.2_Missense_Mutation_p.L592M|SLC5A11_uc010vcd.1_Missense_Mutation_p.L621M|SLC5A11_uc002dmt.2_Missense_Mutation_p.L500M|SLC5A11_uc010vce.1_Missense_Mutation_p.L586M|SLC5A11_uc010bxt.2_Missense_Mutation_p.L592M|SLC5A11_uc002dmv.2_Missense_Mutation_p.L279M NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 656 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) GAAGACCCTCCTGGACGTCAA 0.527 79 84 --- --- --- --- PASS ATXN2L 11273 broad.mit.edu 37 16 28847341 28847341 + Nonsense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:28847341C>T uc002drc.2 + 22 3151 c.2983C>T c.(2983-2985)CAG>TAG p.Q995* uc010vct.1_Intron|ATXN2L_uc002drb.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002dqy.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002dra.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002dqz.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc010vdb.1_Nonsense_Mutation_p.Q1001*|ATXN2L_uc002dre.2_Nonsense_Mutation_p.Q995*|ATXN2L_uc002drf.2_Nonsense_Mutation_p.Q404*|ATXN2L_uc002drg.2_Nonsense_Mutation_p.Q278* NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 995 membrane upper_aerodigestive_tract(1)|ovary(1) 2 GCACCCACCCCAGAGTCATGG 0.672 6 28 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31089893 31089893 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:31089893G>A uc002eap.2 + 2 2537 c.2248G>A c.(2248-2250)GGT>AGT p.G750S NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CCATTTCCAGGGTGATAAAGA 0.532 15 79 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48119595 48119595 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:48119595A>G uc002efc.1 - 27 4083 c.3737T>C c.(3736-3738)TTA>TCA p.L1246S 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 1246 ABC transporter 2. 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) TTCTGCCTGTAATTTTTCTGG 0.403 12 40 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53499487 53499487 + Missense_Mutation SNP T G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:53499487T>G uc002ehi.3 + 13 1954 c.1836T>G c.(1834-1836)AAT>AAG p.N612K RBL2_uc010vgv.1_Missense_Mutation_p.N538K|RBL2_uc002ehj.2_Missense_Mutation_p.N322K|RBL2_uc010vgw.1_Missense_Mutation_p.N396K NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 612 Domain A.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 TTAGAGACAATGAAAACAGAG 0.338 12 34 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53499488 53499488 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:53499488G>T uc002ehi.3 + 13 1955 c.1837G>T c.(1837-1839)GAA>TAA p.E613* RBL2_uc010vgv.1_Nonsense_Mutation_p.E539*|RBL2_uc002ehj.2_Nonsense_Mutation_p.E323*|RBL2_uc010vgw.1_Nonsense_Mutation_p.E397* NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 613 Domain A.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 TAGAGACAATGAAAACAGAGT 0.338 12 34 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72157488 72157488 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:72157488C>G uc002fcc.3 - 18 2837 c.2665G>C c.(2665-2667)GAT>CAT p.D889H PMFBP1_uc002fcd.2_Missense_Mutation_p.D884H|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.D739H NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 889 ovary(2) 2 Ovarian(137;0.179) ATAATCTGATCATTCCCTCGG 0.557 24 18 --- --- --- --- PASS MLYCD 23417 broad.mit.edu 37 16 83941731 83941731 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:83941731G>T uc002fgz.2 + 3 662 c.642G>T c.(640-642)GAG>GAT p.E214D NM_012213 NP_036345 O95822 DCMC_HUMAN malonyl-CoA decarboxylase precursor 214 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity 0 TCCGCCCCAGGGCTGAGGCTG 0.468 21 13 --- --- --- --- PASS TAF1C 9013 broad.mit.edu 37 16 84218511 84218511 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:84218511C>A uc002fhn.2 - 2 312 c.84G>T c.(82-84)ATG>ATT p.M28I TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Missense_Mutation_p.M28I|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.M28I NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 28 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 GCCAGCTGCACATGAAAGAGA 0.627 8 11 --- --- --- --- PASS GAS8 2622 broad.mit.edu 37 16 90102917 90102917 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr16:90102917G>T uc002fqi.1 + 6 801 c.679G>T c.(679-681)GAG>TAG p.E227* GAS8_uc010vps.1_Nonsense_Mutation_p.E202*|GAS8_uc002fqh.2_Nonsense_Mutation_p.E144*|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_Nonsense_Mutation_p.E144*|GAS8_uc010vpv.1_Nonsense_Mutation_p.E198*|GAS8_uc010cjc.1_Nonsense_Mutation_p.E144*|GAS8_uc010vpw.1_Nonsense_Mutation_p.E144*|GAS8_uc002fqj.1_Nonsense_Mutation_p.E35* NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 227 Microtubule-binding. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) GCAGCGCCACGAGGAGGCCTT 0.567 4 23 --- --- --- --- PASS SMG6 23293 broad.mit.edu 37 17 2075968 2075968 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:2075968T>A uc002fub.1 - 13 3396 c.3341A>T c.(3340-3342)GAG>GTG p.E1114V SMG6_uc010vqv.1_Missense_Mutation_p.E206V NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 1114 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 CGAGGTTTTCTCCACGTAGCA 0.547 30 5 --- --- --- --- PASS OR1A2 26189 broad.mit.edu 37 17 3101463 3101463 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:3101463T>C uc002fvd.1 + 1 651 c.651T>C c.(649-651)TAT>TAC p.Y217Y NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TTGTCTCCTATGTTCAGGTCT 0.433 103 32 --- --- --- --- PASS OR1E2 8388 broad.mit.edu 37 17 3337053 3337053 + Missense_Mutation SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:3337053T>C uc010vre.1 - 1 83 c.83A>G c.(82-84)TAT>TGT p.Y28C NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 28 Helical; Name=1; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 GAACAGGGCATAGCACAGGTT 0.522 40 12 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C G G rs11540652 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:7577538C>G uc002gim.2 - 7 937 c.743G>C c.(742-744)CGG>CCG p.R248P TP53_uc002gig.1_Missense_Mutation_p.R248P|TP53_uc002gih.2_Missense_Mutation_p.R248P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116P|TP53_uc010cng.1_Missense_Mutation_p.R116P|TP53_uc002gii.1_Missense_Mutation_p.R116P|TP53_uc010cnh.1_Missense_Mutation_p.R248P|TP53_uc010cni.1_Missense_Mutation_p.R248P|TP53_uc002gij.2_Missense_Mutation_p.R248P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155P|TP53_uc002gio.2_Missense_Mutation_p.R116P 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(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|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.R249fs*96(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) 25 8 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7710538 7710538 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:7710538G>T uc002giu.1 + 61 9527 c.9513G>T c.(9511-9513)AAG>AAT p.K3171N DNAH2_uc010cnm.1_Missense_Mutation_p.K109N NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3171 Stalk (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) TTCTGAAGAAGATTGGGGCCT 0.527 54 16 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10412856 10412856 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:10412856C>A uc002gmo.2 - 15 1627 c.1533G>T c.(1531-1533)TGG>TGT p.W511C uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 511 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CAATGAACGTCCACTCAATGC 0.483 44 29 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10412857 10412857 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:10412857C>A uc002gmo.2 - 15 1626 c.1532G>T c.(1531-1533)TGG>TTG p.W511L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 511 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AATGAACGTCCACTCAATGCC 0.488 45 27 --- --- --- --- PASS RICH2 9912 broad.mit.edu 37 17 12860030 12860030 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:12860030A>G uc002gnr.3 + 15 1636 c.1309A>G c.(1309-1311)ATC>GTC p.I437V RICH2_uc010vvk.1_Missense_Mutation_p.I437V|RICH2_uc010vvl.1_Missense_Mutation_p.I437V|RICH2_uc002gns.3_Missense_Mutation_p.I237V|RICH2_uc010vvm.1_Missense_Mutation_p.I437V|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Missense_Mutation_p.I160V NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 437 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CATTGAACCTATCATCCAGCA 0.527 17 7 --- --- --- --- PASS ZNF207 7756 broad.mit.edu 37 17 30696771 30696771 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:30696771G>T uc002hhh.3 + 11 1578 c.1430G>T c.(1429-1431)CGT>CTT p.R477L ZNF207_uc002hhj.3_Missense_Mutation_p.R493L|ZNF207_uc002hhi.3_Missense_Mutation_p.R462L|ZNF207_uc010csz.2_Missense_Mutation_p.R496L|ZNF207_uc002hhk.1_Intron|ZNF207_uc002hhl.1_RNA NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 477 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) CAAGGTGGCCGTTACTGATCT 0.507 14 24 --- --- --- --- PASS FBXO47 494188 broad.mit.edu 37 17 37099956 37099956 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:37099956G>T uc002hrc.2 - 8 1027 c.827C>A c.(826-828)CCT>CAT p.P276H NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN F-box protein 47 276 0 TTCATCTGTAGGTTCTTCTAT 0.383 5 58 --- --- --- --- PASS PLCD3 113026 broad.mit.edu 37 17 43195803 43195803 + Nonsense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:43195803C>A uc002iib.2 - 6 1084 c.970G>T c.(970-972)GAG>TAG p.E324* NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 324 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) GCAGCCCCCTCCGGCGACAAC 0.577 5 59 --- --- --- --- PASS HOXB7 3217 broad.mit.edu 37 17 46688189 46688189 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:46688189G>A uc002inv.2 - 1 195 c.92C>T c.(91-93)TCT>TTT p.S31F NM_004502 NP_004493 P09629 HXB7_HUMAN homeobox B7 31 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAACGCACAAGAAGTTTGTTC 0.552 13 37 --- --- --- --- PASS PRR11 55771 broad.mit.edu 37 17 57262807 57262807 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:57262807G>A uc002ixf.1 + 4 365 c.286G>A c.(286-288)GAA>AAA p.E96K PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 96 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TCAGAGTTTAGAAGTATTGAA 0.323 21 41 --- --- --- --- PASS CD300C 10871 broad.mit.edu 37 17 72539071 72539071 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:72539071G>T uc002jky.1 - 3 817 c.456C>A c.(454-456)CCC>CCA p.P152P NM_006678 NP_006669 Q08708 CLM6_HUMAN CD300C antigen precursor 152 Pro-rich.|Extracellular (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity 0 GCAGCTTCGTGGGAGGACCTG 0.637 15 14 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73489806 73489806 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:73489806G>T uc002jnz.3 + 18 2491 c.2216G>T c.(2215-2217)CGA>CTA p.R739L KIAA0195_uc010wsa.1_Missense_Mutation_p.R749L|KIAA0195_uc010wsb.1_Missense_Mutation_p.R379L|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 739 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCTACCAGCGAGCCTGCCTG 0.607 4 103 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78337588 78337588 + Silent SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr17:78337588C>G uc002jyh.1 + 16 6190 c.5967C>G c.(5965-5967)GTC>GTG p.V1989V uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.V371V NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCAGGGAAGTCAGGTGAGACC 0.607 3 9 --- --- --- --- PASS KIAA0802 23255 broad.mit.edu 37 18 8783855 8783855 + Nonsense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:8783855G>T uc002knr.2 + 6 887 c.745G>T c.(745-747)GAG>TAG p.E249* KIAA0802_uc002knq.2_Nonsense_Mutation_p.E249*|KIAA0802_uc010dkw.1_Nonsense_Mutation_p.E87* NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 600 Potential. 0 GCAGGAGCGGGAGGGCCCGGG 0.647 6 31 --- --- --- --- PASS MC5R 4161 broad.mit.edu 37 18 13826055 13826055 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:13826055C>T uc010xaf.1 + 1 291 c.291C>T c.(289-291)TAC>TAT p.Y97Y NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 97 Helical; Name=2; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TCACCATCTACCTACTCAACA 0.522 4 27 --- --- --- --- PASS OSBPL1A 114876 broad.mit.edu 37 18 21758027 21758027 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:21758027C>T uc002kve.2 - 21 2217 c.2043G>A c.(2041-2043)GGG>GGA p.G681G OSBPL1A_uc002kvd.2_Silent_p.G168G|OSBPL1A_uc010xbc.1_Silent_p.G299G NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 681 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CTACACTCTTCCCCCAGAATT 0.443 8 42 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31324435 31324435 + Silent SNP T C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:31324435T>C uc010dmg.1 + 12 4678 c.4623T>C c.(4621-4623)GCT>GCC p.A1541A ASXL3_uc002kxq.2_Silent_p.A1248A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CTTTCATTGCTGCTTCGGCAG 0.507 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 --- --- --- --- PASS RPRD1A 55197 broad.mit.edu 37 18 33613794 33613794 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:33613794G>A uc002kzf.1 - 2 164 c.158C>T c.(157-159)CCA>CTA p.P53L RPRD1A_uc002kze.1_Missense_Mutation_p.P17L|RPRD1A_uc002kzg.2_Missense_Mutation_p.P53L|RPRD1A_uc010dmw.2_Missense_Mutation_p.P17L|RPRD1A_uc010dmx.2_Missense_Mutation_p.P53L NM_018170 NP_060640 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 53 CID. ovary(1)|breast(1) 2 CTTCCTGTTTGGTTTGGCTGA 0.333 8 27 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43446904 43446904 + Silent SNP C A A rs142224776 by1000genomes TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:43446904C>A uc002lbm.2 - 38 6580 c.6480G>T c.(6478-6480)TCG>TCT p.S2160S KIAA1632_uc010xcq.1_Silent_p.S714S|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.S1035S NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 2160 autophagy 0 CACTCTGGTACGACACAATAT 0.398 34 18 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65181344 65181344 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:65181344C>A uc002lke.1 - 2 1756 c.532G>T c.(532-534)GTT>TTT p.V178F NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 168 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) CCAATTGGAACCTCATCTCCT 0.383 26 14 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65181345 65181345 + Missense_Mutation SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr18:65181345C>G uc002lke.1 - 2 1755 c.531G>C c.(529-531)GAG>GAC p.E177D NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 167 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) CAATTGGAACCTCATCTCCTG 0.378 27 14 --- --- --- --- PASS MADCAM1 8174 broad.mit.edu 37 19 498595 498595 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:498595C>T uc002los.2 + 3 447 c.437C>T c.(436-438)GCG>GTG p.A146V MADCAM1_uc002lot.2_Missense_Mutation_p.A146V|MADCAM1_uc010drq.2_Missense_Mutation_p.A51V NM_130760 NP_570116 Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion 146 Extracellular (Potential).|Ig-like 2. cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane 0 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACCCCAACGCGCTCTCCTTC 0.716 11 2 --- --- --- --- PASS DOT1L 84444 broad.mit.edu 37 19 2217007 2217007 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:2217007G>C uc002lvb.3 + 21 2498 c.2462G>C c.(2461-2463)GGC>GCC p.G821A DOT1L_uc002lvc.1_Missense_Mutation_p.G115A|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.G115A NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 821 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGTGCCTGGCAGCATGAAG 0.657 8 21 --- --- --- --- PASS ZNF556 80032 broad.mit.edu 37 19 2877439 2877439 + Silent SNP C G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:2877439C>G uc002lwp.1 + 4 570 c.483C>G c.(481-483)TCC>TCG p.S161S ZNF556_uc002lwq.2_Silent_p.S160S NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 161 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATTCCTCATCCCTGATAAGGC 0.433 33 47 --- --- --- --- PASS ZNF556 80032 broad.mit.edu 37 19 2877512 2877512 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:2877512C>T uc002lwp.1 + 4 643 c.556C>T c.(556-558)CGC>TGC p.R186C ZNF556_uc002lwq.2_Missense_Mutation_p.R185C NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 186 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCTTCAGTCGCCCTTCCTA 0.453 45 38 --- --- --- --- PASS UBXN6 80700 broad.mit.edu 37 19 4447574 4447574 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:4447574C>T uc002man.1 - 6 684 c.588G>A c.(586-588)AAG>AAA p.K196K UBXN6_uc010dty.1_Silent_p.K100K|UBXN6_uc002mam.1_Silent_p.K143K NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 196 PUB. microtubule organizing center|nucleus protein binding 0 GCAGCTTGATCTTCCGGTACT 0.677 18 61 --- --- --- --- PASS LRG1 116844 broad.mit.edu 37 19 4538248 4538248 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:4538248T>A uc002mau.2 - 2 759 c.748A>T c.(748-750)AGG>TGG p.R250W PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 250 LRR 7. extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCCACCCTGGCCAGCTTG 0.607 77 38 --- --- --- --- PASS PNPLA6 10908 broad.mit.edu 37 19 7605533 7605533 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:7605533G>T uc010xjq.1 + 8 954 c.759G>T c.(757-759)GTG>GTT p.V253V PNPLA6_uc002mgq.1_Silent_p.V205V|PNPLA6_uc010xjp.1_Silent_p.V205V|PNPLA6_uc002mgr.1_Silent_p.V205V|PNPLA6_uc002mgs.2_Silent_p.V244V NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 244 cNMP 1.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 AGGAGTGTGTGGTGAAGGAAG 0.602 5 66 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9090237 9090237 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:9090237C>T uc002mkp.2 - 1 1782 c.1578G>A c.(1576-1578)CAG>CAA p.Q526Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 526 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACTAAATTGCTGAGCTGTGC 0.542 38 41 --- --- --- --- PASS ZNF791 163049 broad.mit.edu 37 19 12739314 12739314 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:12739314G>T uc002mua.2 + 4 1133 c.971G>T c.(970-972)GGA>GTA p.G324V ZNF791_uc010xml.1_Missense_Mutation_p.G292V|ZNF791_uc010dyu.1_Missense_Mutation_p.G215V|ZNF791_uc010xmm.1_Missense_Mutation_p.G215V NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATTCATACTGGAGAGAAGCCC 0.408 5 57 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17091325 17091325 + Missense_Mutation SNP T A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:17091325T>A uc002nfb.2 - 14 1740 c.1708A>T c.(1708-1710)ACA>TCA p.T570S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 523 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GAAAGGTGTGTTAAACGAATC 0.587 9 25 --- --- --- --- PASS FKBP8 23770 broad.mit.edu 37 19 18649073 18649073 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:18649073G>A uc002njk.1 - 5 835 c.722C>T c.(721-723)GCC>GTC p.A241V FKBP8_uc002nji.1_Missense_Mutation_p.A79V|FKBP8_uc010xqi.1_Missense_Mutation_p.A270V|FKBP8_uc002njj.1_Missense_Mutation_p.A242V|FKBP8_uc002njl.1_Missense_Mutation_p.A242V|FKBP8_uc002njm.1_Missense_Mutation_p.A241V|FKBP8_uc010ebr.1_Missense_Mutation_p.A80V|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 241 TPR 1. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 GTAGGAGTTGGCGGCCAGGAC 0.662 7 41 --- --- --- --- PASS ZNF85 7639 broad.mit.edu 37 19 21131712 21131712 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:21131712G>T uc002npg.3 + 4 519 c.392G>T c.(391-393)TGT>TTT p.C131F ZNF85_uc010ecn.2_Missense_Mutation_p.C66F|ZNF85_uc010eco.2_Missense_Mutation_p.C79F|ZNF85_uc002npi.2_Missense_Mutation_p.C72F NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 131 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 AAAGGAGGTTGTAATGGACTT 0.328 4 71 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21300186 21300186 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:21300186A>G uc002npo.3 + 6 1079 c.719A>G c.(718-720)CAT>CGT p.H240R ZNF714_uc002npl.2_Missense_Mutation_p.H85R|ZNF714_uc010ecp.1_Missense_Mutation_p.H191R|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 240 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCTTCTACCATTCTTCACAC 0.413 26 16 --- --- --- --- PASS ZNF599 148103 broad.mit.edu 37 19 35250747 35250747 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:35250747A>G uc010edn.1 - 4 1347 c.959T>C c.(958-960)TTT>TCT p.F320S ZNF599_uc010edm.1_Missense_Mutation_p.F283S NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 320 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GCTGTAGTAAAAAGCTTTCCC 0.433 3 69 --- --- --- --- PASS HKR1 284459 broad.mit.edu 37 19 37854631 37854631 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:37854631G>C uc002ogb.2 + 6 2203 c.1934G>C c.(1933-1935)AGT>ACT p.S645T HKR1_uc002ofx.2_Missense_Mutation_p.S361T|HKR1_uc002ofy.2_Missense_Mutation_p.S361T|HKR1_uc002oga.2_Missense_Mutation_p.S627T|HKR1_uc010xto.1_Missense_Mutation_p.S627T|HKR1_uc002ogc.2_Missense_Mutation_p.S626T|HKR1_uc010xtp.1_Missense_Mutation_p.S584T|HKR1_uc002ogd.2_Missense_Mutation_p.S584T NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 645 C2H2-type 13. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CGGGGCTTTAGTCGGAAGTCC 0.473 4 49 --- --- --- --- PASS CEACAM21 90273 broad.mit.edu 37 19 42085944 42085944 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:42085944C>A uc002ore.3 + 3 759 c.663C>A c.(661-663)AGC>AGA p.S221R CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.S221R NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 221 Ig-like C2-type.|Extracellular (Potential). integral to membrane ovary(1) 1 ACCCAGTCAGCTCCAACAGGA 0.547 6 8 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43529139 43529139 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:43529139A>T uc002ovh.1 - 2 241 c.152T>A c.(151-153)GTG>GAG p.V51E PSG11_uc002ouw.2_Missense_Mutation_p.V51E|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.V51E|PSG11_uc002ovm.1_Missense_Mutation_p.V45E|PSG11_uc002ovn.1_Missense_Mutation_p.V51E|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 45 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) CCCCTCGGACACTTTGGGTGG 0.468 80 117 --- --- --- --- PASS ZNF227 7770 broad.mit.edu 37 19 44740694 44740694 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:44740694G>T uc002oyu.2 + 6 2316 c.2111G>T c.(2110-2112)CGC>CTC p.R704L ZNF227_uc010xwu.1_Missense_Mutation_p.R653L|ZNF227_uc002oyv.2_Missense_Mutation_p.R704L|ZNF227_uc010xwv.1_Missense_Mutation_p.R653L|ZNF227_uc010xww.1_Missense_Mutation_p.R625L|ZNF227_uc002oyw.2_Missense_Mutation_p.R676L|ZNF227_uc010ejh.2_Missense_Mutation_p.R697L|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 704 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) TTGAATCTTCGCCATCATCAG 0.483 4 82 --- --- --- --- PASS CEACAM16 388551 broad.mit.edu 37 19 45211185 45211185 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:45211185C>A uc010xxd.1 + 6 1199 c.993C>A c.(991-993)GGC>GGA p.G331G CEACAM16_uc002ozq.2_Silent_p.G390G NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion 331 ovary(1) 1 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) CAACGGAGGGCCAGGACGTAA 0.662 3 11 --- --- --- --- PASS FOSB 2354 broad.mit.edu 37 19 45975850 45975850 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:45975850G>T uc002pbx.3 + 4 1189 c.597G>T c.(595-597)TCG>TCT p.S199S ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.S124S|FOSB_uc002pby.3_Silent_p.S163S|FOSB_uc010eka.1_Silent_p.S160S|FOSB_uc010ekb.1_Silent_p.S199S|FOSB_uc010ekc.1_Silent_p.S56S|FOSB_uc010ekf.2_Silent_p.S160S|FOSB_uc010ekd.1_Silent_p.S163S|FOSB_uc010ekg.2_Silent_p.S56S|FOSB_uc002pca.3_Silent_p.S150S NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 199 Leucine-zipper. behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) AGCTGGAGTCGGAGATCGCCG 0.577 13 16 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48624466 48624466 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:48624466G>T uc002pia.1 - 24 2466 c.2346C>A c.(2344-2346)TCC>TCA p.S782S LIG1_uc010xze.1_Silent_p.S475S|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.S714S|LIG1_uc010xzg.1_Silent_p.S751S NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 782 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCTCGTCGTAGGAGGCCAGCA 0.662 NER 6 67 --- --- --- --- PASS CCDC155 147872 broad.mit.edu 37 19 49901368 49901368 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:49901368G>T uc002pnm.1 + 7 771 c.597G>T c.(595-597)GAG>GAT p.E199D CCDC155_uc002pnl.1_Missense_Mutation_p.E199D|CCDC155_uc010emx.1_Missense_Mutation_p.E172D NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 199 Potential. integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 GCCTTGGGGAGGAGATCTTGG 0.647 4 22 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50099409 50099409 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:50099409G>T uc002poo.3 + 4 1817 c.1817G>T c.(1816-1818)GGC>GTC p.G606V NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCGGGAGCTGGCAGCTATGCA 0.682 12 14 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51192460 51192460 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:51192460C>A uc002psx.1 - 15 2060 c.2041G>T c.(2041-2043)GCC>TCC p.A681S SHANK1_uc002psw.1_Missense_Mutation_p.A65S NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 681 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCACCCTTGGCCCCCCGGAGC 0.607 5 70 --- --- --- --- PASS ZNF701 55762 broad.mit.edu 37 19 53085781 53085781 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:53085781G>A uc002pzs.1 + 4 596 c.469G>A c.(469-471)GAA>AAA p.E157K ZNF701_uc010ydn.1_Missense_Mutation_p.E223K NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) ATTTCACCCCGAAGGGAAAAT 0.413 32 91 --- --- --- --- PASS MBOAT7 79143 broad.mit.edu 37 19 54687471 54687471 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:54687471C>T uc002qdq.2 - 6 692 c.426G>A c.(424-426)CTG>CTA p.L142L MBOAT7_uc010erg.2_5'UTR|MBOAT7_uc010yem.1_Silent_p.L124L|MBOAT7_uc002qdr.2_Silent_p.L142L|MBOAT7_uc002qds.2_Silent_p.L69L|MBOAT7_uc010yen.1_Silent_p.L69L|MBOAT7_uc002qdt.3_Silent_p.L142L NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 142 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGTCGGGCAGCAGCCCCAGGG 0.627 17 27 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55711656 55711656 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:55711656C>A uc002qjq.2 - 7 1441 c.1368G>T c.(1366-1368)TGG>TGT p.W456C PTPRH_uc010esv.2_Missense_Mutation_p.W278C|PTPRH_uc002qjs.2_Missense_Mutation_p.W463C NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 456 Extracellular (Potential).|Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TTTTTTCTGCCCATACAGAGA 0.517 18 16 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175601 57175601 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:57175601G>A uc010ygo.1 - 2 1032 c.1032C>T c.(1030-1032)GCC>GCT p.A344A ZNF835_uc010ygn.1_Silent_p.A322A NM_001005850 NP_001005850 zinc finger protein 835 p.G334fs*26(1) pancreas(3)|skin(1) 4 GCCGGTGCTCGGCCAGAGAGG 0.701 11 18 --- --- --- --- PASS ZNF586 54807 broad.mit.edu 37 19 58290273 58290273 + Silent SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:58290273C>T uc002qqd.2 + 3 504 c.318C>T c.(316-318)CCC>CCT p.P106P ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.P64L|ZNF586_uc010euh.2_Silent_p.P63P|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 106 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCACTGAACCCAGAAGAGATC 0.413 14 70 --- --- --- --- PASS ZNF446 55663 broad.mit.edu 37 19 58991863 58991863 + Missense_Mutation SNP C T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:58991863C>T uc002qsz.2 + 7 1240 c.1123C>T c.(1123-1125)CCA>TCA p.P375S ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 375 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGAGAAGCCACCACAAGGGGA 0.647 7 7 --- --- --- --- PASS CPXM1 56265 broad.mit.edu 37 20 2778860 2778860 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:2778860C>A uc002wgu.2 - 4 592 c.528G>T c.(526-528)GTG>GTT p.V176V CPXM1_uc010gas.2_Silent_p.V176V NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 176 F5/8 type C. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GCCCAGCGTCCACCTGAAACC 0.592 5 46 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8769342 8769342 + Missense_Mutation SNP A T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:8769342A>T uc002wnb.2 + 29 3254 c.3251A>T c.(3250-3252)AAA>ATA p.K1084I PLCB1_uc002wna.2_Missense_Mutation_p.K1084I NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1084 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ACAGAAGCTAAATCCAAAGAC 0.363 10 28 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20079402 20079402 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:20079402C>A uc002wru.2 + 8 879 c.803C>A c.(802-804)CCA>CAA p.P268Q C20orf26_uc010gcw.1_Missense_Mutation_p.P222Q|C20orf26_uc010zse.1_Missense_Mutation_p.P268Q|C20orf26_uc010zsf.1_Missense_Mutation_p.P268Q NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 268 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CTCTGTTTCCCACATCCTGAT 0.488 16 41 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21687473 21687473 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:21687473G>T uc002wsj.2 + 2 738 c.684G>T c.(682-684)CTG>CTT p.L228L PAX1_uc010zsl.1_Silent_p.L228L|PAX1_uc010zsm.1_Silent_p.L204L NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 228 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 TCGGCAGCCTGGCGCAGCCCG 0.642 26 10 --- --- --- --- PASS MAPRE1 22919 broad.mit.edu 37 20 31421598 31421598 + Missense_Mutation SNP A C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:31421598A>C uc002wyh.2 + 3 336 c.197A>C c.(196-198)AAG>ACG p.K66T NM_012325 NP_036457 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, 66 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding 0 TTCCAAGCTAAGCTAGAACAC 0.398 51 62 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44663663 44663663 + Silent SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:44663663G>A uc010zxl.1 + 2 274 c.198G>A c.(196-198)AAG>AAA p.K66K SLC12A5_uc002xra.2_Silent_p.K43K|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.K43K NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 66 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATGATGGCAAGAACATGGCCT 0.547 43 74 --- --- --- --- PASS PTPN1 5770 broad.mit.edu 37 20 49177930 49177930 + Missense_Mutation SNP T G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr20:49177930T>G uc002xvl.2 + 2 268 c.94T>G c.(94-96)TGT>GGT p.C32G PTPN1_uc010zys.1_Intron NM_002827 NP_002818 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 32 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding 0 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) TGACTTCCCATGTAGAGTGGC 0.453 6 57 --- --- --- --- PASS KRTAP13-1 140258 broad.mit.edu 37 21 31768868 31768868 + Missense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr21:31768868G>A uc002yoa.2 + 1 477 c.464G>A c.(463-465)AGG>AAG p.R155K NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 155 intermediate filament ovary(1) 1 TTGGCTTCTAGGAGCTGCCAG 0.502 16 15 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37333986 37333986 + Silent SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr22:37333986C>A uc003aqa.3 + 14 2353 c.2136C>A c.(2134-2136)GTC>GTA p.V712V CSF2RB_uc003aqc.3_Silent_p.V718V NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 712 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CTGGTTATGTCTCCTCTGCAG 0.597 17 19 --- --- --- --- PASS JOSD1 9929 broad.mit.edu 37 22 39085044 39085044 + Silent SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr22:39085044G>C uc003awf.2 - 3 872 c.405C>G c.(403-405)CTC>CTG p.L135L NM_014876 NP_055691 Q15040 JOS1_HUMAN Josephin domain containing 1 135 Josephin. peptidase activity 0 Melanoma(58;0.04) GCTGCCTTTTGAGGGGCAGTT 0.572 27 33 --- --- --- --- PASS PARVB 29780 broad.mit.edu 37 22 44532354 44532354 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr22:44532354G>T uc003ben.2 + 7 700 c.648G>T c.(646-648)CTG>CTT p.L216L PARVB_uc003bem.2_Silent_p.L249L|PARVB_uc010gzn.2_Silent_p.L164L|PARVB_uc003beo.2_Silent_p.L179L NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 216 cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) GGGAAGGCCTGCTGCATTCCA 0.562 17 20 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24382817 24382817 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:24382817A>G uc011mjx.1 + 1 1940 c.1940A>G c.(1939-1941)GAC>GGC p.D647G NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 AGTGGCAGTGACCTTCAGTCC 0.612 10 5 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24753605 24753605 + Silent SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:24753605G>T uc004dbl.2 + 18 1928 c.1905G>T c.(1903-1905)GTG>GTT p.V635V NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 635 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) ATATCATTGTGGTGAGTAGAT 0.368 5 43 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26213027 26213027 + Missense_Mutation SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:26213027A>G uc004dbr.2 + 2 1213 c.1064A>G c.(1063-1065)TAT>TGT p.Y355C MAGEB6_uc010ngc.1_Missense_Mutation_p.Y135C NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 355 MAGE. ovary(3) 3 CCTCCATGCTATGAGTTCCTG 0.498 28 5 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39934379 39934379 + Missense_Mutation SNP G T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:39934379G>T uc004den.3 - 4 512 c.220C>A c.(220-222)CGC>AGC p.R74S BCOR_uc004dep.3_Missense_Mutation_p.R74S|BCOR_uc004deo.3_Missense_Mutation_p.R74S|BCOR_uc004dem.3_Missense_Mutation_p.R74S|BCOR_uc004deq.3_Missense_Mutation_p.R74S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 74 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 AGGCCAGTGCGGTCCATGCTC 0.582 4 9 --- --- --- --- PASS UBA1 7317 broad.mit.edu 37 X 47070573 47070573 + Missense_Mutation SNP G C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:47070573G>C uc004dhj.3 + 20 2564 c.2413G>C c.(2413-2415)GTC>CTC p.V805L UBA1_uc004dhk.3_Missense_Mutation_p.V805L|UBA1_uc004dhm.2_Missense_Mutation_p.V253L NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 805 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 CAAGTCTGGCGTCAAGATCCA 0.607 4 39 --- --- --- --- PASS MAGED1 9500 broad.mit.edu 37 X 51638459 51638459 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:51638459C>A uc004dpm.2 + 3 451 c.356C>A c.(355-357)CCA>CAA p.P119Q MAGED1_uc004dpn.2_Missense_Mutation_p.P175Q|MAGED1_uc004dpo.2_Missense_Mutation_p.P119Q|MAGED1_uc011mnx.1_Intron NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 119 P -> S (in Ref. 1; AAG09704). apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) AATGCTACCCCAAAGGGTCCA 0.502 Multiple Myeloma(10;0.10) 3 6 --- --- --- --- PASS NKRF 55922 broad.mit.edu 37 X 118724197 118724197 + Silent SNP A G G TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:118724197A>G uc004erq.2 - 2 1844 c.1191T>C c.(1189-1191)AGT>AGC p.S397S NKRF_uc004err.2_Silent_p.S397S NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 397 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 CTGCATGTTTACTTGTTTTCT 0.413 71 10 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038229 139038229 + Missense_Mutation SNP C A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:139038229C>A uc004fbb.2 - 3 934 c.912G>T c.(910-912)AAG>AAT p.K304N NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 304 Cytoplasmic (Potential). integral to membrane 0 TGGAAGAGGACTTGACTTTGC 0.378 15 35 --- --- --- --- PASS UBE2NL 389898 broad.mit.edu 37 X 142967551 142967551 + Missense_Mutation SNP A C C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:142967551A>C uc004fca.2 + 1 379 c.349A>C c.(349-351)AAT>CAT p.N117H NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 117 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) AAATGCTCCCAATCCAGATGA 0.453 30 39 --- --- --- --- PASS GDI1 2664 broad.mit.edu 37 X 153667172 153667172 + Nonsense_Mutation SNP G A A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:153667172G>A uc004fli.3 + 3 557 c.215G>A c.(214-216)TGG>TAG p.W72* GDI1_uc011mzo.1_Nonsense_Mutation_p.W72* NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 72 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCCGAGACTGGAATGTTGAC 0.572 86 11 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247751925 247751926 + Frame_Shift_Ins INS - T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr1:247751925_247751926insT uc010pyy.1 + 1 264_265 c.264_265insT c.(262-267)CTGTGGfs p.L88fs NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 88_89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGTAAACCTGTGGGAACCCAT 0.515 50 50 --- --- --- --- MUC13 56667 broad.mit.edu 37 3 124641091 124641092 + Frame_Shift_Del DEL TC - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr3:124641091_124641092delTC uc003ehq.1 - 4 717_718 c.693_694delGA c.(691-696)GAGAAAfs p.E231fs NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 231_232 SEA.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 ATGGAATGTTTCTCTTCTGGGT 0.361 22 55 --- --- --- --- CWC27 10283 broad.mit.edu 37 5 64082402 64082402 + Frame_Shift_Del DEL A - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr5:64082402delA uc003jtn.1 + 6 766 c.547delA c.(547-549)AAAfs p.K183fs CWC27_uc003jtl.2_Frame_Shift_Del_p.K183fs|CWC27_uc003jtm.2_Frame_Shift_Del_p.K183fs|CWC27_uc010iwt.1_Frame_Shift_Del_p.K183fs NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 183 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 TAAAAGGCTGAAAAAAGAGAA 0.308 10 26 --- --- --- --- ZSCAN23 222696 broad.mit.edu 37 6 28402480 28402480 + Frame_Shift_Del DEL C - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:28402480delC uc003nli.3 - 4 1113 c.932delG c.(931-933)GGCfs p.G311fs ZSCAN23_uc003nlh.2_RNA|ZSCAN23_uc010jrf.1_RNA|ZSCAN23_uc011dli.1_3'UTR NM_001012455 NP_001012458 Q3MJ62 ZSC23_HUMAN zinc finger protein 390 311 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAAGGCTTTGCCACAAACACT 0.532 7 10 --- --- --- --- Unknown 0 broad.mit.edu 37 6 44042334 44042335 + RNA DEL AC - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr6:44042334_44042335delAC uc003owm.1 - 1 c.55_56delGT Homo sapiens cDNA: FLJ21083 fis, clone CAS03150. CAGTTTCATTACACACACAGAC 0.574 OREG0017461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 2 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA - - rs35604576 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr7:70255577_70255579delCCA uc003tvw.3 + 19 4118_4120 c.3375_3377delCCA c.(3373-3378)AGCCAC>AGC p.H1133del AUTS2_uc003tvx.3_In_Frame_Del_p.H1109del|AUTS2_uc011keg.1_In_Frame_Del_p.H585del NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1133 His-rich. ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.591 4 2 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139890382 139890382 + Frame_Shift_Del DEL A - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:139890382delA uc003yvd.2 - 3 716 c.269delT c.(268-270)TTCfs p.F90fs NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 90 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCCAACTCGAAGGCCGTGGT 0.701 HNSCC(7;0.00092) 4 2 --- --- --- --- ARC 23237 broad.mit.edu 37 8 143694528 143694528 + Frame_Shift_Del DEL G - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr8:143694528delG uc003ywn.1 - 1 1306 c.1105delC c.(1105-1107)CACfs p.H369fs NM_015193 NP_056008 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated 369 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1) 1 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) ACCGGGAGGTGGGGGCCGGCC 0.711 2 4 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT - - rs35266724 TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr9:139277995_139277997delGCT uc004chh.2 - 15 1633_1635 c.1624_1626delAGC c.(1624-1626)AGCdel p.S542del NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.473 7 6 --- --- --- --- SLC35C1 55343 broad.mit.edu 37 11 45832809 45832810 + Frame_Shift_Ins INS - T T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:45832809_45832810insT uc001nbp.2 + 2 1730_1731 c.1018_1019insT c.(1018-1020)GTCfs p.V340fs SLC35C1_uc001nbo.2_Frame_Shift_Ins_p.V327fs|SLC35C1_uc010rgm.1_Frame_Shift_Ins_p.V327fs NM_018389 NP_060859 Q96A29 FUCT1_HUMAN GDP-fucose transporter 1 isoform a 340 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity 0 GBM - Glioblastoma multiforme(35;0.227) CTACACCTGGGTCAGGGGCTGG 0.634 2 11 --- --- --- --- GUCY1A2 2977 broad.mit.edu 37 11 106849403 106849403 + Frame_Shift_Del DEL G - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr11:106849403delG uc001pjg.1 - 3 819 c.429delC c.(427-429)TCCfs p.S143fs GUCY1A2_uc010rvo.1_Frame_Shift_Del_p.S143fs|GUCY1A2_uc009yxn.1_Frame_Shift_Del_p.S143fs NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 143 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTTCTTTGTTGGAGTGGTCTG 0.323 10 21 --- --- --- --- H3F3C 440093 broad.mit.edu 37 12 31945016 31945016 + Frame_Shift_Del DEL T - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr12:31945016delT uc001rkr.2 - 1 160 c.85delA c.(85-87)AGCfs p.S29fs NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 29 nucleosome assembly nucleosome|nucleus DNA binding 0 GAGGGGGTGCTTTTCCTGGCA 0.587 HNSCC(67;0.2) 32 17 --- --- --- --- PCDH17 27253 broad.mit.edu 37 13 58208948 58208948 + Frame_Shift_Del DEL G - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr13:58208948delG uc001vhq.1 + 1 3160 c.2268delG c.(2266-2268)AAGfs p.K756fs PCDH17_uc010aec.1_Frame_Shift_Del_p.K756fs NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 756 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GTGGGGGCAAGGGCAAGAAGA 0.557 27 22 --- --- --- --- CYP1A1 1543 broad.mit.edu 37 15 75013955 75013974 + Frame_Shift_Del DEL ATGTTAATGATCTTCTCATC - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr15:75013955_75013974delATGTTAATGATCTTCTCATC uc002ayp.3 - 3 1032_1051 c.910_929delGATGAGAAGATCATTAACAT c.(910-930)GATGAGAAGATCATTAACATCfs p.D304fs CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Frame_Shift_Del_p.D40fs|CYP1A1_uc010bjx.2_Frame_Shift_Del_p.D40fs|CYP1A1_uc002ayq.3_Frame_Shift_Del_p.D304fs|CYP1A1_uc010bjy.2_Frame_Shift_Del_p.D304fs|CYP1A1_uc010bjz.1_Frame_Shift_Del_p.D40fs NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 304_310 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GTCCAAGACGATGTTAATGATCTTCTCATCTGACAGCTGG 0.514 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 26 12 --- --- --- --- IRGQ 126298 broad.mit.edu 37 19 44096824 44096826 + In_Frame_Del DEL TCT - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr19:44096824_44096826delTCT uc002oww.2 - 2 1342_1344 c.1224_1226delAGA c.(1222-1227)TCAGAG>TCG p.E409del IRGQ_uc010eiv.2_In_Frame_Del_p.E409del NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 409 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) AGCGGCCCGCTCTGAGTCGCCAC 0.660 65 32 --- --- --- --- CARD10 29775 broad.mit.edu 37 22 37890147 37890147 + Frame_Shift_Del DEL C - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chr22:37890147delC uc003asx.1 - 16 2425 c.2422delG c.(2422-2424)GTGfs p.V808fs CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Frame_Shift_Del_p.V126fs|CARD10_uc003asw.1_Frame_Shift_Del_p.V522fs|CARD10_uc003asy.1_Frame_Shift_Del_p.V808fs NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 808 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) GGCGCCCCCACGGGCTTGGGC 0.677 4 3 --- --- --- --- CYBB 1536 broad.mit.edu 37 X 37663222 37663222 + Frame_Shift_Del DEL A - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:37663222delA uc004ddr.2 + 9 1051 c.990delA c.(988-990)CCAfs p.P330fs CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Frame_Shift_Del_p.P298fs|CYBB_uc011mkg.1_Frame_Shift_Del_p.P63fs NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 330 Cytoplasmic (Potential).|FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 TCAAGTGCCCAAAGGTGTCCA 0.478 13 30 --- --- --- --- NXF3 56000 broad.mit.edu 37 X 102334777 102334778 + Frame_Shift_Del DEL AG - - TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 30666313-cc29-4fce-8308-b04fb932083c b7921120-9dcf-49f4-b1a3-dd33a3fddc47 g.chrX:102334777_102334778delAG uc004eju.2 - 13 1144_1145 c.1073_1074delCT c.(1072-1074)TCTfs p.S358fs NXF3_uc010noi.1_Frame_Shift_Del_p.S208fs NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 358 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 GTCGATCTCCAGAGTCATAGAT 0.520 19 46 --- --- --- ---