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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample UBE4B 10277 broad.mit.edu 37 1 10186932 10186932 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:10186932C>G uc001aqs.3 + 11 2348 c.1635C>G c.(1633-1635)CTC>CTG p.L545L UBE4B_uc001aqr.3_Silent_p.L416L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 545 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AATACCCCCTCATGGTAAAAC 0.343 NaN 0 0 0 0.013537 0 12 48 MTOR 2475 broad.mit.edu 37 1 11297958 11297958 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:11297958C>T uc001asd.2 - 13 2271 c.2150G>A c.(2149-2151)CGA>CAA p.R717Q NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 717 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCTACTGAGTCGGCCCACAGT 0.582 NaN 0 0 0 0.005443 0 25 57 VPS13D 55187 broad.mit.edu 37 1 12317111 12317111 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:12317111G>A uc001atv.2 + 9 1049 c.908G>A c.(907-909)CGA>CAA p.R303Q VPS13D_uc001atw.2_Missense_Mutation_p.R303Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 303 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTGAAGTTCCGAAGGTGGAAA 0.443 NaN 0 0 0 0.004672 0 3 67 TMEM50A 23585 broad.mit.edu 37 1 25678163 25678163 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:25678163G>A uc001bke.2 + 4 403 c.253G>A c.(253-255)GAA>AAA p.E85K TMEM50A_uc010oeq.1_Missense_Mutation_p.E85K|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA NM_014313 NP_055128 O95807 TM50A_HUMAN small membrane protein 1 85 endoplasmic reticulum|integral to membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) TAGTTACAGTGAAGGTTGTCT 0.368 NaN 0 0 0 0.001855 0 13 40 MAN1C1 57134 broad.mit.edu 37 1 26104650 26104650 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:26104650G>A uc001bkm.2 + 9 1642 c.1312G>A c.(1312-1314)GAG>AAG p.E438K MAN1C1_uc009vry.1_Missense_Mutation_p.E258K|MAN1C1_uc001bkn.2_5'Flank NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 438 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CTACATTGCCGAGTGGCGAGG 0.627 NaN 0 0 0 0.001168 0 4 62 TRIM63 84676 broad.mit.edu 37 1 26387813 26387813 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:26387813C>T uc001bli.1 - 3 481 c.345G>A c.(343-345)CAG>CAA p.Q115Q NM_032588 NP_115977 Q969Q1 TRI63_HUMAN muscle specific ring finger protein 1 115 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GACTGCCCTTCTGCAGCGGCC 0.527 NaN 0 0 0 0.009096 0 3 66 ARID1A 8289 broad.mit.edu 37 1 27056160 27056160 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:27056160C>T uc001bmv.1 + 2 1529 c.1156C>T c.(1156-1158)CAG>TAG p.Q386* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q3* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 386 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCAATGGATCAGATGGGCAA 0.498 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.008361 0 27 91 PUM1 9698 broad.mit.edu 37 1 31437555 31437555 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:31437555G>A uc001bsi.1 - 14 2402 c.2289C>T c.(2287-2289)CTC>CTT p.L763L PUM1_uc001bsf.1_Silent_p.L429L|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.L763L|PUM1_uc001bsj.1_Silent_p.L737L|PUM1_uc010oga.1_Silent_p.L619L|PUM1_uc001bsk.1_Silent_p.L799L|PUM1_uc010ogb.1_Silent_p.L704L NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 763 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CATGTGAAGAGAGGGAAGGAG 0.493 NaN 0 0 0 0.009535 0 29 176 RLF 6018 broad.mit.edu 37 1 40701823 40701823 + Silent SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:40701823A>G uc001cfc.3 + 8 1480 c.1449A>G c.(1447-1449)TTA>TTG p.L483L RLF_uc001cfd.3_Silent_p.L174L NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 483 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ACCAACTTTTAGGACAAGAAG 0.403 NaN 0 0 0 0.009096 0 3 128 IL12RB2 3595 broad.mit.edu 37 1 67792462 67792462 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:67792462G>A uc001ddu.2 + 4 1049 c.409G>A c.(409-411)GAA>AAA p.E137K IL12RB2_uc010oqi.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqj.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqm.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 137 Extracellular (Potential).|Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 ACAGAAGGGAGAACAGGGGAC 0.428 NaN 0 0 0 0.008291 0 10 67 TTLL7 79739 broad.mit.edu 37 1 84403570 84403570 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:84403570G>C uc001djc.2 - 8 1249 c.853C>G c.(853-855)CAA>GAA p.Q285E TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 285 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ACATCATGTTGATTTGCTTGA 0.373 NaN 0 0 0 0.00308 0 8 100 LMO4 8543 broad.mit.edu 37 1 87797721 87797721 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:87797721C>T uc001dmi.2 + 2 803 c.23C>T c.(22-24)TCG>TTG p.S8L LMO4_uc001dmj.2_Missense_Mutation_p.S8L NM_006769 NP_006760 P61968 LMO4_HUMAN LIM domain only 4 8 neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding 0 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) GGCAGCAGCTCGCAGCCGCCC 0.637 NaN 0 0 0 0.00308 0 6 53 PKN2 5586 broad.mit.edu 37 1 89290038 89290038 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:89290038G>A uc001dmn.2 + 18 2730 c.2388G>A c.(2386-2388)GTG>GTA p.V796V PKN2_uc010osp.1_Silent_p.V780V|PKN2_uc010osq.1_Silent_p.V639V|PKN2_uc009wcv.2_Silent_p.V748V|PKN2_uc010osr.1_Silent_p.V461V NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 796 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) AGGGCTTTGTGAAAATTGCTG 0.308 NaN 0 0 0 0.004482 0 8 54 ARHGAP29 9411 broad.mit.edu 37 1 94639451 94639451 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:94639451C>T uc001dqj.3 - 23 4129 c.3760G>A c.(3760-3762)GAA>AAA p.E1254K ARHGAP29_uc009wdq.1_Intron NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 1254 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATTTCACCTTCGAGGTCTTCA 0.398 NaN 0 0 0 0.001855 0 13 106 S1PR1 1901 broad.mit.edu 37 1 101705115 101705115 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:101705115C>G uc001dud.2 + 2 1089 c.575C>G c.(574-576)TCC>TGC p.S192C S1PR1_uc009weg.2_Missense_Mutation_p.S192C NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 192 Extracellular (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 TCCAGCTGCTCCACCGTGCTG 0.567 NaN OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003271 0 36 76 KCNC4 3749 broad.mit.edu 37 1 110765682 110765682 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:110765682G>C uc001dzh.2 + 2 832 c.775G>C c.(775-777)GAG>CAG p.E259Q KCNC4_uc001dzf.2_Missense_Mutation_p.E259Q|KCNC4_uc009wfr.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzg.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 259 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CAACGTGACAGAGATCCTCCG 0.552 NaN 0 0 0 0.010504 0 21 129 PDE4DIP 9659 broad.mit.edu 37 1 144864265 144864265 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:144864265G>C uc001elw.3 - 36 6121 c.5830C>G c.(5830-5832)CAA>GAA p.Q1944E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1838E|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q951E|PDE4DIP_uc001ema.2_Missense_Mutation_p.Q131E NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1944 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCAGCTCTTGAAGGTGGGAT 0.527 NaN T PDGFRB MPD 0 0 0 0.001855 0 12 303 LINGO4 339398 broad.mit.edu 37 1 151773402 151773402 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:151773402G>C uc001ezf.1 - 2 1969 c.1779C>G c.(1777-1779)TTC>TTG p.F593L NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 593 Cytoplasmic (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAAGGTCAGAAGAGCTTGG 0.547 NaN 0 0 0 0.004007 0 17 59 LINGO4 339398 broad.mit.edu 37 1 151774212 151774212 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:151774212C>T uc001ezf.1 - 2 1159 c.969G>A c.(967-969)TTG>TTA p.L323L NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 323 Extracellular (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAGGCAGTCAAGCCATGGA 0.597 NaN 0 0 0 0.013537 0 13 71 LCE3A 353142 broad.mit.edu 37 1 152595518 152595518 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:152595518G>T uc010pdt.1 - 1 62 c.62C>A c.(61-63)CCA>CAA p.P21Q NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 21 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACACTGTGCTGGGCTCTTTGC 0.632 NaN 1 0 4.4004e-07 0.00333 4.70313e-07 22 47 S100A9 6280 broad.mit.edu 37 1 153333180 153333180 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:153333180G>A uc001fbq.2 + 3 254 c.211G>A c.(211-213)GAC>AAC p.D71N NM_002965 NP_002956 P06702 S10A9_HUMAN S100 calcium-binding protein A9 71 2; high affinity (Probable).|EF-hand 2. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CACAAATGCAGACAAGCAGCT 0.562 NaN 0 0 0 0.005524 0 37 53 INTS3 65123 broad.mit.edu 37 1 153723691 153723691 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:153723691C>T uc009wom.2 + 8 926 c.705C>T c.(703-705)TTC>TTT p.F235F INTS3_uc001fct.2_Silent_p.F235F|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Silent_p.F29F|INTS3_uc010peb.1_Silent_p.F29F|INTS3_uc001fcw.2_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 236 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGTAGACTTCTGCATCTCAC 0.542 NaN 0 0 0 0.001984 0 7 72 NES 10763 broad.mit.edu 37 1 156640874 156640874 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:156640874C>T uc001fpq.2 - 4 3239 c.3106G>A c.(3106-3108)GAG>AAG p.E1036K NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1036 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGAGGCCCTCAGCCCCTCCC 0.667 NaN 0 0 0 0.010504 0 18 165 C1orf92 149499 broad.mit.edu 37 1 156897392 156897392 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:156897392C>T uc001fqm.2 + 7 939 c.767C>T c.(766-768)TCG>TTG p.S256L C1orf92_uc001fql.2_Missense_Mutation_p.S41L NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 256 LRR 4. 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACCCTCGTCTCGCTCAACCTG 0.662 NaN OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 11 9 CRP 1401 broad.mit.edu 37 1 159684367 159684367 + Translation_Start_Site SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:159684367G>C uc001ftw.2 - 1 13 c.-91C>G c.(-93--89)ATCTA>ATGTA CRP_uc001ftx.1_Translation_Start_Site|CRP_uc001fty.1_5'Flank NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AGAAGTCCTAGATCTCTTGCC 0.458 NaN 0 0 0 0.004672 0 3 12 FCRLB 127943 broad.mit.edu 37 1 161697035 161697035 + Splice_Site SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:161697035A>T uc001gbh.2 + 8 1100 c.866_splice c.e8-2 p.G289_splice FCRLB_uc009wus.2_Splice_Site_p.G289_splice|FCRLB_uc001gbj.2_Splice_Site_p.V241_splice|FCRLB_uc001gbk.2_Splice_Site_p.G254_splice|FCRLB_uc001gbl.2_Splice_Site_p.V234_splice|FCRLB_uc001gbm.2_Splice_Site_p.G247_splice|FCRLB_uc001gbi.2_Splice_Site_p.G289_splice|FCRLB_uc001gbn.3_Splice_Site_p.G291_splice NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) ATGCATTCACAGGTTCTCCCC 0.507 NaN 0 0 0 0.009096 0 3 17 CFH 3075 broad.mit.edu 37 1 196694341 196694341 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:196694341C>A uc001gtj.3 + 12 2027 c.1787C>A c.(1786-1788)TCC>TAC p.S596Y NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 596 Sushi 10. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TTGAAATTCTCCTGCAAACCA 0.393 NaN 1 0 0.00307968 0.00308 0.00320493 7 41 CRB1 23418 broad.mit.edu 37 1 197411332 197411332 + Silent SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:197411332G>T uc001gtz.2 + 11 4050 c.3915G>T c.(3913-3915)CCG>CCT p.P1305P CRB1_uc010poz.1_Silent_p.P1281P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.P1193P|CRB1_uc010ppb.1_Silent_p.P769P|CRB1_uc010ppd.1_Silent_p.P786P|CRB1_uc001gub.1_3'UTR NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1305 Extracellular (Potential).|EGF-like 19; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.P1305A(1) ovary(5)|skin(3)|large_intestine(1) 9 CCTCTGATCCGTGTGTCAATG 0.493 NaN 1 0 1.96642e-18 0.006999 2.14384e-18 41 164 PTPRC 5788 broad.mit.edu 37 1 198711037 198711037 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:198711037C>T uc001gur.1 + 24 2617 c.2437C>T c.(2437-2439)CAG>TAG p.Q813* PTPRC_uc001gus.1_Nonsense_Mutation_p.Q765*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q652* NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 813 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GACTCACATTCAGTTCACCAG 0.413 NaN 0 0 0 0.004672 0 3 32 PHLDA3 23612 broad.mit.edu 37 1 201437671 201437671 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:201437671C>T uc001gwq.2 - 1 629 c.244G>A c.(244-246)GAG>AAG p.E82K PHLDA3_uc009wzx.2_5'UTR NM_012396 NP_036528 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, 82 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding 0 AAGTCGATCTCGCCGCCCCCT 0.652 NaN 0 0 0 0.006122 0 16 70 PHLDA3 23612 broad.mit.edu 37 1 201437831 201437831 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:201437831C>T uc001gwq.2 - 1 469 c.84G>A c.(82-84)CGG>CGA p.R28R PHLDA3_uc009wzx.2_5'UTR NM_012396 NP_036528 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, 28 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding 0 CGCAGCGCTTCCGCTTCCACA 0.721 NaN 0 0 0 0.001168 0 6 21 LMOD1 25802 broad.mit.edu 37 1 201915321 201915321 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:201915321G>A uc001gxb.2 - 1 396 c.148C>T c.(148-150)CGG>TGG p.R50W LMOD1_uc010ppu.1_Missense_Mutation_p.R50W NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 50 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 TTTCTCTGCCGCAGCCCCACG 0.587 NaN 0 0 0 0.013537 0 13 54 SLC45A3 85414 broad.mit.edu 37 1 205632625 205632625 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:205632625C>T uc001hda.1 - 3 633 c.294G>A c.(292-294)CTG>CTA p.L98L SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 98 Helical; Name=3; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GAAAGAGGCTCAGCAGGATGC 0.677 NaN T ETV1|ETV5|ELK4|ERG prostate 0 0 0 0.001984 0 6 30 IKBKE 9641 broad.mit.edu 37 1 206653236 206653236 + Missense_Mutation SNP G G A rs143491598 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:206653236G>A uc001hdz.1 + 11 1575 c.1207G>A c.(1207-1209)GTC>ATC p.V403I IKBKE_uc009xbv.1_Missense_Mutation_p.V403I|IKBKE_uc001hea.1_Missense_Mutation_p.V318I NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 403 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) CCCCAAGTTCGTCCCCAAAGT 0.592 NaN OREG0014170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 3 46 PFKFB2 5208 broad.mit.edu 37 1 207242832 207242832 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:207242832C>T uc001hfg.2 + 11 1160 c.1051C>T c.(1051-1053)CGA>TGA p.R351* PFKFB2_uc010psc.1_Nonsense_Mutation_p.R253*|PFKFB2_uc001hfh.2_Nonsense_Mutation_p.R351*|PFKFB2_uc009xcc.2_Nonsense_Mutation_p.R309*|PFKFB2_uc010psd.1_Nonsense_Mutation_p.R165* NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 351 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) GTTTGCACTTCGAGATCAAGA 0.463 NaN 0 0 0 0.001168 0 6 79 CENPF 1063 broad.mit.edu 37 1 214814564 214814564 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:214814564C>T uc001hkm.2 + 12 3057 c.2883C>T c.(2881-2883)ATC>ATT p.I961I NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 961 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGAGTTCCATCATTTCTCTAA 0.353 NaN 0 0 0 0.003163 0 14 63 SMYD3 64754 broad.mit.edu 37 1 246021899 246021899 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:246021899G>C uc001ibl.2 - 10 1070 c.975C>G c.(973-975)ATC>ATG p.I325M SMYD3_uc001ibk.2_Missense_Mutation_p.I266M|SMYD3_uc001ibi.2_Missense_Mutation_p.I136M|SMYD3_uc001ibj.2_Missense_Mutation_p.I136M NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 325 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TCAGCTGGTAGATGTTGATAT 0.507 NaN 0 0 0 0.009096 0 4 61 CNST 163882 broad.mit.edu 37 1 246797846 246797846 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:246797846G>A uc001ibp.2 + 6 1153 c.775G>A c.(775-777)GAA>AAA p.E259K CNST_uc001ibo.3_Missense_Mutation_p.E259K NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 259 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 ATTTAATGGTGAAGATTTTGA 0.333 NaN 0 0 0 0.001168 0 6 52 ZNF496 84838 broad.mit.edu 37 1 247464049 247464049 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:247464049C>T uc001ico.2 - 9 2001 c.1536G>A c.(1534-1536)CCG>CCA p.P512P ZNF496_uc009xgv.2_Silent_p.P548P|ZNF496_uc001icp.2_Silent_p.P512P NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 512 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CGTTTTCCAGCGGCTCTTTGG 0.642 NaN 0 0 0 0.009096 0 4 110 OR2L8 391190 broad.mit.edu 37 1 248112934 248112934 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:248112934C>G uc001idt.1 + 1 775 c.775C>G c.(775-777)CTA>GTA p.L259V OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTACACTTATCTACGTCCAAG 0.483 NaN 0 0 0 0.010818 0 25 73 OR2L3 391192 broad.mit.edu 37 1 248224758 248224758 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:248224758C>G uc001idx.1 + 1 775 c.775C>G c.(775-777)CTA>GTA p.L259V OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTACACTTATCTACGTCCAAG 0.493 NaN 0 0 0 0.004672 0 3 122 ASB13 79754 broad.mit.edu 37 10 5691004 5691004 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:5691004T>C uc001iig.2 - 4 490 c.446A>G c.(445-447)CAT>CGT p.H149R ASB13_uc001iii.2_RNA|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.H149R NM_024701 NP_078977 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box-containing protein 149 ANK 5. intracellular signal transduction protein binding ovary(1) 1 GBM - Glioblastoma multiforme(2;9.59e-09) GGTCCCAAAATGGCAATCGTG 0.542 NaN 0 0 0 0.003271 0 34 118 BMI1 648 broad.mit.edu 37 10 22616526 22616526 + Nonsense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:22616526C>G uc001irh.2 + 4 851 c.212C>G c.(211-213)TCA>TGA p.S71* BMI1_uc009xkg.2_Nonsense_Mutation_p.S214* NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 71 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 TTTTTCAGGTCAGATAAAACT 0.264 NaN 0 0 0 0.001855 0 13 121 NRP1 8829 broad.mit.edu 37 10 33619671 33619671 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:33619671G>C uc001iwx.3 - 2 736 c.213C>G c.(211-213)TTC>TTG p.F71L NRP1_uc001iwv.3_Missense_Mutation_p.F71L|NRP1_uc009xlz.2_Missense_Mutation_p.F71L|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.F71L|NRP1_uc001iwz.2_Missense_Mutation_p.F71L|NRP1_uc001ixa.2_Missense_Mutation_p.F71L|NRP1_uc001ixb.1_Missense_Mutation_p.F71L|NRP1_uc001ixc.1_Missense_Mutation_p.F71L NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 71 CUB 1.|Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) AGTGAGGGTTGAAGTTGATCA 0.478 NaN 0 0 0 0.006214 0 10 44 SYT15 83849 broad.mit.edu 37 10 46967671 46967671 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:46967671C>T uc001jea.2 - 4 559 c.406G>A c.(406-408)GAG>AAG p.E136K SYT15_uc001jdz.2_Missense_Mutation_p.E136K|SYT15_uc001jeb.2_Missense_Mutation_p.E14K|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 136 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 CTTTTGTCCTCCGGGAACTTG 0.617 NaN 0 0 0 0.00245 0 13 132 PCDH15 65217 broad.mit.edu 37 10 55581860 55581860 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:55581860G>C uc001jju.1 - 33 6021 c.5626C>G c.(5626-5628)CAG>GAG p.Q1876E PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730E|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853E NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1876 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GGTTCTCTCTGAGGGTCTGTT 0.388 NaN HNSCC(58;0.16) 0 0 0 0.01441 0 58 67 ZWINT 11130 broad.mit.edu 37 10 58118398 58118398 + Missense_Mutation SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:58118398A>T uc001jjx.1 - 7 748 c.711T>A c.(709-711)GAT>GAA p.D237E ZWINT_uc001jjy.1_Missense_Mutation_p.D190E|ZWINT_uc001jka.1_Missense_Mutation_p.D237E|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 237 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 GGGGTTTATCATCTGGAAGAT 0.532 NaN 0 0 0 0.006122 0 18 27 NUDT13 25961 broad.mit.edu 37 10 74879774 74879774 + Splice_Site SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:74879774A>C uc001jtj.2 + 3 209 c.84_splice c.e3-2 p.R28_splice NUDT13_uc010qkc.1_Splice_Site|NUDT13_uc010qkd.1_Splice_Site|NUDT13_uc009xqw.2_Splice_Site|NUDT13_uc001jtk.2_Splice_Site_p.R28_splice|NUDT13_uc010qke.1_Splice_Site|NUDT13_uc001jtl.2_Splice_Site_p.R28_splice NM_015901 NP_056985 Q86X67 NUD13_HUMAN nudix-type motif 13 hydrolase activity|metal ion binding 0 Prostate(51;0.0119) TCCCAAATACAGGTATTTATT 0.408 NaN 0 0 0 0.000602 0 5 41 CYP26A1 1592 broad.mit.edu 37 10 94834560 94834560 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:94834560G>A uc001kil.2 + 3 484 c.439G>A c.(439-441)GAG>AAG p.E147K CYP26A1_uc001kik.1_Missense_Mutation_p.E78K|CYP26A1_uc001kim.1_Missense_Mutation_p.E45K NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 147 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) CTTCAGCCGCGAGGCACTCGA 0.657 NaN 0 0 0 0.010729 0 10 16 EIF3A 8661 broad.mit.edu 37 10 120795652 120795652 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:120795652C>T uc001ldu.2 - 22 4194 c.4048G>A c.(4048-4050)GAA>AAA p.E1350K EIF3A_uc010qsu.1_Missense_Mutation_p.E1316K NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1350 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TTCTCTTTTTCACCTTCTCTT 0.507 NaN 0 0 0 0.00499 0 17 45 TUBGCP2 10844 broad.mit.edu 37 10 135098627 135098627 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr10:135098627G>A uc001lmg.1 - 13 2343 c.1986C>T c.(1984-1986)AAC>AAT p.N662N TUBGCP2_uc001lmf.1_Silent_p.N255N|TUBGCP2_uc010qvc.1_Silent_p.N690N|TUBGCP2_uc009ybk.1_Silent_p.N685N|TUBGCP2_uc010qvd.1_Silent_p.N532N|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 662 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TGGCGGTTTTGTTGCTGATCC 0.607 NaN 0 0 0 0.004482 0 9 52 ANO9 338440 broad.mit.edu 37 11 431718 431718 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:431718C>T uc001lpi.2 - 7 600 c.515G>A c.(514-516)CGG>CAG p.R172Q ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.R28Q NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 172 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 TGGCTGCTCCCGGAACATGTG 0.667 NaN 0 0 0 0.000602 0 5 17 MOB2 81532 broad.mit.edu 37 11 1491480 1491480 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:1491480G>A uc010qwz.1 - 5 919 c.729C>T c.(727-729)GGC>GGT p.G243G MOB2_uc001lto.1_Silent_p.G127G|MOB2_uc001ltp.1_Missense_Mutation_p.R6W|MOB2_uc001ltq.1_Silent_p.G206G|MOB2_uc010qwy.1_Silent_p.G127G NM_053005 NP_443731 Q70IA6 MOB2_HUMAN HCCA2 protein 212 nucleus|perinuclear region of cytoplasm metal ion binding 0 TGTGGACCCCGCCGGCCCCGC 0.682 NaN 0 0 0 0.008291 0 11 32 OR51F1 256892 broad.mit.edu 37 11 4790533 4790533 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:4790533G>A uc010qyl.1 - 1 615 c.615C>T c.(613-615)CTC>CTT p.L205L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 205 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGGTCAGGATGAGATCAATTA 0.413 NaN 0 0 0 0.008291 0 11 42 FAM160A2 84067 broad.mit.edu 37 11 6232852 6232852 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:6232852G>C uc001mcl.3 - 12 3162 c.2803C>G c.(2803-2805)CTC>GTC p.L935V FAM160A2_uc001mck.3_Missense_Mutation_p.L949V NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 935 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 AACTCCTTGAGAAATTCAGGG 0.557 NaN 0 0 0 0.014323 0 21 89 APBB1 322 broad.mit.edu 37 11 6432324 6432324 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:6432324C>T uc001mdb.1 - 2 354 c.254G>A c.(253-255)CGT>CAT p.R85H APBB1_uc001mdc.1_Missense_Mutation_p.R85H|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 85 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ATTCTGGTCACGGTGGGCCGT 0.652 NaN 0 0 0 0.008361 0 29 135 OR6A2 8590 broad.mit.edu 37 11 6816130 6816130 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:6816130G>C uc001mes.1 - 1 1010 c.810C>G c.(808-810)CTC>CTG p.L270L NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAAAAGCTGAGAGTGCCTTTG 0.463 NaN 0 0 0 0.010729 0 12 67 FANCF 2188 broad.mit.edu 37 11 22647304 22647304 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:22647304G>C uc001mql.1 - 1 84 c.53C>G c.(52-54)TCA>TGA p.S18* NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 18 DNA repair nucleoplasm protein binding skin(1) 1 GGTAGTGCTTGAGACCGCCAG 0.637 NaN N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.001984 0 6 31 DDB2 1643 broad.mit.edu 37 11 47236784 47236784 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:47236784G>C uc001neb.2 + 1 292 c.97G>C c.(97-99)GAG>CAG p.E33Q DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.E33Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.E33Q|DDB2_uc001nef.2_5'UTR|DDB2_uc001neg.2_5'Flank|DDB2_uc001neh.2_5'Flank NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 33 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 GCTGGAGCCCGAGGCCAAGAA 0.612 NaN Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.004672 0 3 161 C11orf48 79081 broad.mit.edu 37 11 62435136 62435136 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:62435136C>G uc001nue.2 - 4 832 c.397G>C c.(397-399)GAA>CAA p.E133Q C11orf48_uc001nuf.2_Missense_Mutation_p.E133Q|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Missense_Mutation_p.E133Q NM_024099 NP_077004 Q9BQE6 CK048_HUMAN hypothetical protein LOC79081 159 0 CAAGCATCTTCTTCATCCTGG 0.537 NaN 0 0 0 0.00245 0 14 315 ZBTB3 79842 broad.mit.edu 37 11 62521497 62521497 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:62521497G>A uc001nuz.2 - 1 160 c.38C>T c.(37-39)TCG>TTG p.S13L NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 CTTGCCAGGCGATGCCTCTAC 0.597 NaN 0 0 0 0.008291 0 9 56 SLC22A12 116085 broad.mit.edu 37 11 64359356 64359356 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:64359356G>A uc001oam.1 + 1 1075 c.328G>A c.(328-330)GAG>AAG p.E110K SLC22A12_uc009ypr.1_Missense_Mutation_p.E110K|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.E110K|SLC22A12_uc001oan.1_Missense_Mutation_p.E110K|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 110 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CAGCTGGAGCGAGGCCGACAC 0.677 NaN 0 0 0 0.001168 0 6 37 POLA2 23649 broad.mit.edu 37 11 65055264 65055264 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:65055264G>A uc001odj.2 + 11 1426 c.1084G>A c.(1084-1086)GAC>AAC p.D362N POLA2_uc010rod.1_Missense_Mutation_p.D154N|POLA2_uc001odk.2_Missense_Mutation_p.D59N NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 362 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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) CCCCCTGCTTGACCTGATTGC 0.502 NaN 0 0 0 0.000602 0 5 74 POLA2 23649 broad.mit.edu 37 11 65063047 65063047 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:65063047C>G uc001odj.2 + 16 1839 c.1497C>G c.(1495-1497)CTC>CTG p.L499L POLA2_uc010rod.1_Silent_p.L291L|POLA2_uc001odk.2_Silent_p.L196L NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 499 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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) GCCGAATACTCAAGCACATCT 0.498 NaN 0 0 0 0.010729 0 10 130 FRMD8 83786 broad.mit.edu 37 11 65168229 65168229 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:65168229C>T uc001odu.3 + 9 1154 c.962C>T c.(961-963)TCG>TTG p.S321L FRMD8_uc009yqj.2_Missense_Mutation_p.S265L|FRMD8_uc010rof.1_Missense_Mutation_p.S287L NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 321 FERM. cytoskeleton binding p.S321S(1) lung(1)|pancreas(1) 2 CAGGAGCTGTCGTGGGACCAC 0.647 NaN 0 0 0 0.00308 0 8 44 RIN1 9610 broad.mit.edu 37 11 66100213 66100213 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:66100213C>T uc001ohn.1 - 10 2013 c.1886G>A c.(1885-1887)CGA>CAA p.R629Q RIN1_uc010roy.1_Missense_Mutation_p.R260Q|RIN1_uc009yrd.1_Missense_Mutation_p.R322Q|RIN1_uc010roz.1_Missense_Mutation_p.R524Q|RIN1_uc010rpa.1_Missense_Mutation_p.R463Q NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 629 Ras and 14-3-3 protein binding region.|Ras-associating. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 ATAGGCTACTCGGAGGAGGTG 0.592 NaN 0 0 0 0.008291 0 11 84 INPPL1 3636 broad.mit.edu 37 11 71946359 71946359 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:71946359C>G uc001osf.2 + 23 2670 c.2523C>G c.(2521-2523)CTC>CTG p.L841L INPPL1_uc001osg.2_Silent_p.L599L NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 841 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 TGGTTGCACTCAAATCCATGA 0.572 NaN 0 0 0 0.008871 0 20 99 INPPL1 3636 broad.mit.edu 37 11 71949157 71949157 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:71949157C>G uc001osf.2 + 27 3771 c.3624C>G c.(3622-3624)ATC>ATG p.I1208M INPPL1_uc001osg.2_Missense_Mutation_p.I966M NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1208 SAM. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 TGCGGGCCATCGGCTTGGAGC 0.711 NaN OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 21 STARD10 10809 broad.mit.edu 37 11 72469670 72469670 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:72469670G>C uc001osy.2 - 4 655 c.364C>G c.(364-366)CCC>GCC p.P122A ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.P122A|STARD10_uc001ota.2_Missense_Mutation_p.P76A|STARD10_uc001otb.2_Missense_Mutation_p.P122A NM_006645 NP_006636 Q9Y365 PCTL_HUMAN START domain containing 10 122 START. 0 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) AGGGGCTTGGGACACCTCCCT 0.582 NaN 0 0 0 0.004672 0 3 19 C11orf30 56946 broad.mit.edu 37 11 76257114 76257114 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:76257114G>A uc001oxl.2 + 20 3690 c.3547G>A c.(3547-3549)GAA>AAA p.E1183K C11orf30_uc001oxm.2_Missense_Mutation_p.E1085K|C11orf30_uc010rsb.1_Missense_Mutation_p.E1198K|C11orf30_uc010rsc.1_Missense_Mutation_p.E1184K|C11orf30_uc001oxn.2_Missense_Mutation_p.E1184K|C11orf30_uc010rsd.1_Missense_Mutation_p.E1092K|C11orf30_uc010rse.1_Missense_Mutation_p.E430K|C11orf30_uc001oxp.2_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1183 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GCTCACTGGTGAAGCAGGATC 0.478 NaN 0 0 0 0.003163 0 14 46 FAT3 120114 broad.mit.edu 37 11 92523337 92523337 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:92523337G>A uc001pdj.3 + 7 4581 c.4564G>A c.(4564-4566)GAG>AAG p.E1522K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1522 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTATACTGCCGAGAGGCTGGA 0.498 NaN TCGA Ovarian(4;0.039) 0 0 0 0.008871 0 21 117 KIAA1377 57562 broad.mit.edu 37 11 101849120 101849120 + Missense_Mutation SNP G G A rs150274963 byFrequency TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr11:101849120G>A uc001pgm.2 + 7 3158 c.2888G>A c.(2887-2889)CGG>CAG p.R963Q KIAA1377_uc001pgn.2_Missense_Mutation_p.R919Q|KIAA1377_uc010run.1_Missense_Mutation_p.R764Q NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 963 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAAACTAAGCGGAGAAATATT 0.333 NaN 0 0 0 0.000602 0 5 180 CACNA1C 775 broad.mit.edu 37 12 2797760 2797760 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:2797760G>A uc009zdu.1 + 49 6494 c.6181G>A c.(6181-6183)GAG>AAG p.E2061K CACNA1C_uc009zdv.1_Missense_Mutation_p.E1975K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1967K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1984K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2019K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2026K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1998K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1995K|CACNA1C_uc001qku.2_Missense_Mutation_p.E2013K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2006K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1785K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1749K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1714K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1774K|CACNA1C_uc010sea.1_Missense_Mutation_p.E669K|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.E296K NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2061 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGAGGGGGTCGAGTCCAGTGA 0.692 NaN 0 0 0 0.013537 0 13 53 FGF6 2251 broad.mit.edu 37 12 4553375 4553375 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:4553375C>T uc001qmr.1 - 2 418 c.374G>A c.(373-375)CGA>CAA p.R125Q NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 125 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CACCACGCCTCGCTCCACAGT 0.537 NaN 0 0 0 0.010729 0 9 36 PZP 5858 broad.mit.edu 37 12 9353646 9353646 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:9353646C>G uc001qvl.2 - 6 541 c.512G>C c.(511-513)AGA>ACA p.R171T PZP_uc009zgl.2_Missense_Mutation_p.R40T NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AATTCGATTTCTTCTTGGGTT 0.438 NaN 0 0 0 0.003163 0 13 60 PPFIBP1 8496 broad.mit.edu 37 12 27844717 27844717 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:27844717G>A uc001ric.1 + 27 3116 c.2739G>A c.(2737-2739)TTG>TTA p.L913L PPFIBP1_uc010sjr.1_Silent_p.L744L|PPFIBP1_uc001rib.1_Silent_p.L907L|PPFIBP1_uc001ria.2_Silent_p.L882L|PPFIBP1_uc001rid.1_Silent_p.L760L|PPFIBP1_uc001rif.1_Silent_p.L420L NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 913 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) TTGGGAATTTGAGAAAGAAGA 0.353 NaN 0 0 0 0.013537 0 12 63 PDZRN4 29951 broad.mit.edu 37 12 41587902 41587902 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:41587902C>T uc010skn.1 + 3 226 c.158C>T c.(157-159)TCG>TTG p.S53L NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 252 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAGGAACATCGACTGAAGGA 0.318 NaN 0 0 0 0.009096 0 4 29 DAZAP2 9802 broad.mit.edu 37 12 51636147 51636147 + Nonsense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:51636147C>G uc010snd.1 + 4 519 c.335C>G c.(334-336)TCA>TGA p.S112* DAZAP2_uc001ryb.2_Missense_Mutation_p.Q116E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q56E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q106E|DAZAP2_uc010snf.1_Intron NM_001136266 NP_001129738 Q15038 DAZP2_HUMAN DAZ associated protein 2 isoform c Error:Variant_position_missing_in_Q15038_after_alignment WW domain binding 0 CAATGCTGCTCAGCTTGCAGT 0.537 NaN 0 0 0 0.001984 0 7 333 ERBB3 2065 broad.mit.edu 37 12 56478817 56478817 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:56478817G>C uc001sjh.2 + 3 466 c.273G>C c.(271-273)ATG>ATC p.M91I ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 91 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCGTGGCCATGAATGAATTCT 0.473 NaN 0 0 0 0.012213 0 33 83 ESYT1 23344 broad.mit.edu 37 12 56531825 56531825 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:56531825C>A uc001sjq.2 + 20 2264 c.2214C>A c.(2212-2214)CTC>CTA p.L738L ESYT1_uc001sjr.2_Silent_p.L748L NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 738 L -> F (in Ref. 2; BAB15139). integral to membrane ovary(4)|skin(1) 5 AAGTGCGTCTCACCACAGTCT 0.473 NaN 1 0 2.51541e-25 0.004878 2.76314e-25 36 93 LRP1 4035 broad.mit.edu 37 12 57556275 57556275 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:57556275G>A uc001snd.2 + 14 2844 c.2378G>A c.(2377-2379)CGA>CAA p.R793Q NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 793 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.R793*(1) ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTTGAGATCCGAATGTATGAT 0.607 NaN 0 0 0 0.001984 0 7 77 PTPRB 5787 broad.mit.edu 37 12 70970178 70970178 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:70970178G>A uc001swb.3 - 9 2202 c.2172C>T c.(2170-2172)TTC>TTT p.F724F PTPRB_uc010sto.1_Silent_p.F724F|PTPRB_uc010stp.1_Silent_p.F634F|PTPRB_uc001swc.3_Silent_p.F942F|PTPRB_uc001swa.3_Intron|PTPRB_uc001swd.3_Silent_p.F941F|PTPRB_uc009zrr.1_Silent_p.F821F NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 724 Fibronectin type-III 8.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCTTGGCTGAAGGAGTGAT 0.512 NaN 0 0 0 0.000602 0 4 20 NAP1L1 4673 broad.mit.edu 37 12 76447602 76447602 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:76447602C>G uc001sxw.2 - 9 1130 c.718G>C c.(718-720)GAT>CAT p.D240H NAP1L1_uc001sxv.2_Missense_Mutation_p.D198H|NAP1L1_uc001sxz.2_Missense_Mutation_p.D171H|NAP1L1_uc001sxx.2_Missense_Mutation_p.D240H|NAP1L1_uc001sxy.2_Missense_Mutation_p.D177H|NAP1L1_uc010sty.1_Missense_Mutation_p.D197H|NAP1L1_uc010stz.1_Missense_Mutation_p.D57H|NAP1L1_uc010sua.1_Missense_Mutation_p.D240H|NAP1L1_uc001syb.2_Missense_Mutation_p.D240H|NAP1L1_uc001sya.2_Missense_Mutation_p.D198H|NAP1L1_uc001syc.2_Missense_Mutation_p.D251H NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 240 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) TCAGAATCATCTGGTTCTGAC 0.348 NaN 0 0 0 0.00499 0 17 33 NTN4 59277 broad.mit.edu 37 12 96104265 96104265 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:96104265G>C uc001tei.2 - 5 1583 c.1134C>G c.(1132-1134)TTC>TTG p.F378L NTN4_uc009ztf.2_Missense_Mutation_p.F378L|NTN4_uc009ztg.2_Missense_Mutation_p.F341L NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 378 Laminin EGF-like 2. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 GGTCACGATAGAAGCCTGGCT 0.483 NaN 0 0 0 0.013537 0 13 52 UTP20 27340 broad.mit.edu 37 12 101686964 101686964 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:101686964G>A uc001tia.1 + 11 1348 c.1192G>A c.(1192-1194)GAA>AAA p.E398K NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 398 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GAGCAGATTTGAAAAACGTTT 0.353 NaN 0 0 0 0.00245 0 15 39 CCDC53 51019 broad.mit.edu 37 12 102455053 102455053 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:102455053G>A uc010svw.1 - 2 282 c.123C>T c.(121-123)CTC>CTT p.L41L CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Silent_p.L41L NM_016053 NP_057137 Q9Y3C0 CCD53_HUMAN coiled-coil domain containing 53 41 WASH complex protein binding 0 AAAAGCGGTTGAGGAACTGTA 0.438 NaN 0 0 0 0.00245 0 11 34 STAB2 55576 broad.mit.edu 37 12 104071314 104071314 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:104071314G>C uc001tjw.2 + 25 2916 c.2730G>C c.(2728-2730)GAG>GAC p.E910D NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 910 Extracellular (Potential).|EGF-like 9. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACTGCTCGGAGATCAACAACT 0.572 NaN 0 0 0 0.013726 0 33 89 MORN3 283385 broad.mit.edu 37 12 122091125 122091125 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:122091125C>T uc001uax.2 - 4 675 c.504G>A c.(502-504)ATG>ATA p.M168I MORN3_uc001uay.2_Intron NM_173855 NP_776254 Q6PF18 MORN3_HUMAN MORN repeat containing 3 168 MORN 6. 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CCCCGTTCTTCATGCCTCTCT 0.587 NaN 0 0 0 0.006214 0 9 44 GPR109A 338442 broad.mit.edu 37 12 123187019 123187019 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:123187019G>A uc001ucx.1 - 1 886 c.812C>T c.(811-813)TCG>TTG p.S271L GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 271 Extracellular (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) CAGGTCCACCGAGCGGTACAC 0.542 NaN 0 0 0 0.000602 0 5 52 RNF17 56163 broad.mit.edu 37 13 25428222 25428222 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:25428222G>C uc001upr.2 + 25 3591 c.3550G>C c.(3550-3552)GAG>CAG p.E1184Q RNF17_uc010tdd.1_Missense_Mutation_p.E1043Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1180Q|RNF17_uc001ups.2_Missense_Mutation_p.E1123Q|RNF17_uc010aac.2_Missense_Mutation_p.E382Q|RNF17_uc010aad.2_Missense_Mutation_p.E236Q NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1184 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAACGTATTTGAGGCAACAGT 0.393 NaN 0 0 0 0.001984 0 7 38 RB1 5925 broad.mit.edu 37 13 48881462 48881462 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:48881462C>T uc001vcb.2 + 2 350 c.184C>T c.(184-186)CAG>TAG p.Q62* RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 62 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(13)|p.?(3)|p.Q62*(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCATTATGTCAGAAATTAAA 0.323 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.001168 0 6 26 RNF219 79596 broad.mit.edu 37 13 79219061 79219061 + Silent SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:79219061A>G uc001vkw.1 - 2 203 c.144T>C c.(142-144)AAT>AAC p.N48N RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.N48N NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 48 RING-type; degenerate. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ACTGGCTATTATTCTTCAACC 0.368 NaN 0 0 0 0.008871 0 20 66 RBM26 64062 broad.mit.edu 37 13 79939829 79939829 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:79939829T>C uc001vkz.2 - 9 1330 c.1316A>G c.(1315-1317)AAT>AGT p.N439S RBM26_uc001vky.2_Missense_Mutation_p.N434S|RBM26_uc001vla.2_Missense_Mutation_p.N434S|RBM26_uc001vkx.2_Missense_Mutation_p.N146S NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 434 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GGCTTCAGGATTGTAGCCATC 0.353 NaN 0 0 0 0.00308 0 7 62 KDELC1 79070 broad.mit.edu 37 13 103450976 103450976 + Silent SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr13:103450976A>C uc001vpq.3 - 1 429 c.45T>G c.(43-45)GTT>GTG p.V15V KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 15 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CGAGTGCTGGAACTGTCGCCA 0.532 NaN 0 0 0 0.013537 0 12 43 OR4L1 122742 broad.mit.edu 37 14 20528789 20528789 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:20528789G>A uc001vwn.1 + 1 586 c.586G>A c.(586-588)GAA>AAA p.E196K NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATACACCCTGGAATTATTTGT 0.408 NaN 0 0 0 0.01441 0 59 80 MRPL52 122704 broad.mit.edu 37 14 23299420 23299420 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:23299420C>T uc001wgw.3 + 3 144 c.114C>T c.(112-114)TCC>TCT p.S38S MRPL52_uc001wgx.3_Silent_p.S37S|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Silent_p.S38S NM_178336 NP_848026 Q86TS9 RM52_HUMAN mitochondrial ribosomal protein L52 isoform a 38 translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CCAACCCCTCCGGCTACGGGC 0.597 NaN 0 0 0 0.007291 0 27 94 ZFYVE26 23503 broad.mit.edu 37 14 68265271 68265271 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:68265271G>C uc001xka.2 - 11 1847 c.1708C>G c.(1708-1710)CTG>GTG p.L570V ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L570V|ZFYVE26_uc010tta.1_Missense_Mutation_p.L570V NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 570 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCCAGGCACAGAGAGTCAGGA 0.478 NaN 0 0 0 0.000602 0 5 47 ZFYVE26 23503 broad.mit.edu 37 14 68273295 68273295 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:68273295C>G uc001xka.2 - 6 1123 c.984G>C c.(982-984)CTG>CTC p.L328L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L328L|ZFYVE26_uc010tta.1_Silent_p.L328L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 328 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGTTGTTGCTCAGGCAGTAGA 0.498 NaN 0 0 0 0.001984 0 7 34 ZFP36L1 677 broad.mit.edu 37 14 69257106 69257106 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:69257106G>C uc001xkh.1 - 2 291 c.161C>G c.(160-162)TCA>TGA p.S54* ZFP36L1_uc001xki.1_Nonsense_Mutation_p.S54* NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 54 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CAGGGTGACTGAGTGCCTCCG 0.632 NaN OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 11 22 TTC9 23508 broad.mit.edu 37 14 71137855 71137855 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:71137855G>C uc001xmi.2 + 3 995 c.652G>C c.(652-654)GAA>CAA p.E218Q NM_015351 NP_056166 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 218 binding 0 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) CTCCCAGAGAGAAAAAGAAGC 0.557 NaN 0 0 0 0.001984 0 7 28 PTPN21 11099 broad.mit.edu 37 14 88945434 88945434 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:88945434C>T uc001xwv.3 - 13 2672 c.2341G>A c.(2341-2343)GCA>ACA p.A781T PTPN21_uc010twc.1_Missense_Mutation_p.A577T NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 781 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TGGGCCTCTGCGGTCGTGCGG 0.697 NaN 0 0 0 0.001984 0 7 45 TDP1 55775 broad.mit.edu 37 14 90442142 90442142 + Silent SNP G G A rs139270583 byFrequency TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:90442142G>A uc001xxy.2 + 7 1073 c.774G>A c.(772-774)GCG>GCA p.A258A TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.A258A|TDP1_uc010atn.2_Silent_p.A258A|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.A258A NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 258 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TGGATATTGCGTTTGGAACAC 0.373 NaN Repair_of_DNA-protein_crosslinks 0 0 0 0.006122 0 18 98 C14orf68 283600 broad.mit.edu 37 14 100795778 100795778 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:100795778C>G uc001yhc.2 + 6 796 c.723C>G c.(721-723)ATC>ATG p.I241M C14orf68_uc001yhd.2_Missense_Mutation_p.I95M NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 241 Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) TGGACGTGATCAAGTCGAGAC 0.667 NaN 0 0 0 0.004482 0 9 58 BRF1 2972 broad.mit.edu 37 14 105688029 105688029 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr14:105688029G>A uc001yqp.2 - 11 1634 c.1271C>T c.(1270-1272)TCA>TTA p.S424L BRF1_uc010tyo.1_Missense_Mutation_p.S309L|BRF1_uc010typ.1_Missense_Mutation_p.S309L|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Missense_Mutation_p.S220L|BRF1_uc001yqo.2_Missense_Mutation_p.S186L|BRF1_uc010axg.1_Missense_Mutation_p.S397L|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 424 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GATGGAGTCTGAGATGCCCAG 0.672 NaN 0 0 0 0.001984 0 6 19 FMN1 342184 broad.mit.edu 37 15 33358805 33358805 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:33358805G>C uc001zhf.3 - 1 1281 c.1281C>G c.(1279-1281)CTC>CTG p.L427L FMN1_uc001zhg.2_Silent_p.L427L NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TCTTGCGCTTGAGAGCTTCCA 0.532 NaN 0 0 0 0.001984 0 6 21 RAD51 5888 broad.mit.edu 37 15 40993283 40993283 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:40993283G>A uc001zmi.3 + 3 408 c.109G>A c.(109-111)GAT>AAT p.D37N RAD51_uc010bbw.2_Missense_Mutation_p.D37N|RAD51_uc010bbx.2_Missense_Mutation_p.D37N|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.D37N|RAD51_uc001zmm.1_RNA|RAD51_uc001zmn.1_5'UTR NM_002875 NP_002866 Q06609 RAD51_HUMAN RAD51 homolog protein isoform 1 37 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity 0 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) AAATGCCAACGATGTGAAGAA 0.303 NaN Homologous_recombination 0 0 0 0.008291 0 10 44 DNAJC17 55192 broad.mit.edu 37 15 41071455 41071455 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:41071455C>G uc001zms.1 - 4 272 c.261G>C c.(259-261)CAG>CAC p.Q87H DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA NM_018163 NP_060633 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 87 protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CATCAAGTTTCTGGGTCCTCT 0.507 NaN 0 0 0 0.003163 0 14 89 INO80 54617 broad.mit.edu 37 15 41272569 41272569 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:41272569G>A uc001zni.2 - 36 4736 c.4523C>T c.(4522-4524)TCA>TTA p.S1508L INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1508 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 AGAGGCGCTTGAAGGTCCAAA 0.547 NaN 0 0 0 0.008291 0 10 52 GANC 2595 broad.mit.edu 37 15 42632010 42632010 + Missense_Mutation SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:42632010A>C uc001zpi.2 + 17 2301 c.1987A>C c.(1987-1989)ACC>CCC p.T663P NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 663 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GGAGGAACACACCCGACTCAT 0.572 NaN 0 0 0 0.001168 0 5 41 GANC 2595 broad.mit.edu 37 15 42632035 42632035 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:42632035G>C uc001zpi.2 + 17 2326 c.2012G>C c.(2011-2013)AGA>ACA p.R671T NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 671 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GAAGCCATCAGAGAGCGCTAT 0.542 NaN 0 0 0 0.001168 0 6 41 DMXL2 23312 broad.mit.edu 37 15 51758502 51758502 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:51758502G>C uc002abf.2 - 30 7621 c.7396C>G c.(7396-7398)CTT>GTT p.L2466V DMXL2_uc002abd.2_Missense_Mutation_p.L537V|DMXL2_uc010ufy.1_Missense_Mutation_p.L2467V|DMXL2_uc010bfa.2_Missense_Mutation_p.L1830V NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2466 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GACAAAGGAAGAAATGGCTGC 0.209 NaN 0 0 0 0.001855 0 13 51 TMOD2 29767 broad.mit.edu 37 15 52074980 52074980 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:52074980G>A uc002abk.2 + 7 908 c.687G>A c.(685-687)AAG>AAA p.K229K TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Silent_p.K185K NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 229 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) CTCACGTGAAGAAGTTCAGCC 0.433 NaN 0 0 0 0.000602 0 5 159 TMOD2 29767 broad.mit.edu 37 15 52075011 52075011 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:52075011G>C uc002abk.2 + 7 939 c.718G>C c.(718-720)GAC>CAC p.D240H TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.D196H NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 240 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) TCGCAGCAATGACCCTGTGGC 0.393 NaN 0 0 0 0.009096 0 4 121 FAM63B 54629 broad.mit.edu 37 15 59123984 59123984 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:59123984G>C uc002afj.2 + 6 1439 c.1237G>C c.(1237-1239)GAG>CAG p.E413Q FAM63B_uc002afi.2_Missense_Mutation_p.E413Q|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_Intron NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 413 central_nervous_system(1) 1 CTTTGTAGCTGAGCAGTTTCT 0.338 NaN 0 0 0 0.000602 0 5 54 TLN2 83660 broad.mit.edu 37 15 62944237 62944237 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:62944237C>G uc002alb.3 + 3 268 c.268C>G c.(268-270)CAG>GAG p.Q90E NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 90 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 ACAGAGACCTCAGAAAATCCG 0.403 NaN 0 0 0 0.006214 0 10 36 HERC1 8925 broad.mit.edu 37 15 63930948 63930948 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:63930948C>G uc002amp.2 - 62 12077 c.11929G>C c.(11929-11931)GAT>CAT p.D3977H NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3977 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 ATTTGTTCATCCATGCCGTTA 0.393 NaN 0 0 0 0.013537 0 12 236 ANKDD1A 348094 broad.mit.edu 37 15 65242076 65242076 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:65242076C>G uc002aoa.2 + 14 1395 c.1366C>G c.(1366-1368)CAG>GAG p.Q456E ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.Q333E NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 456 Death. signal transduction ovary(1) 1 CAGGAGCTATCAGGAGCACGG 0.622 NaN 0 0 0 0.004672 0 3 79 CLK3 1198 broad.mit.edu 37 15 74912356 74912356 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:74912356C>T uc010uln.1 + 3 1064 c.603C>T c.(601-603)GAC>GAT p.D201D CLK3_uc002ayg.3_Silent_p.D53D|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.D201D|CLK3_uc002ayj.3_Silent_p.D53D|CLK3_uc002ayk.3_5'UTR NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 201 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 GCAGCCATGACCGCCTGCCCT 0.587 NaN 0 0 0 0.00245 0 13 51 EDC3 80153 broad.mit.edu 37 15 74927826 74927826 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:74927826G>C uc002ayn.2 - 9 1604 c.1116C>G c.(1114-1116)GTC>GTG p.V372V EDC3_uc002ayo.2_Silent_p.V372V|EDC3_uc002aym.2_Silent_p.V372V NM_001142443 NP_001135915 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 372 YjeF N-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 CCAACATCTTGACAAAATTGG 0.522 NaN OREG0023287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 10 79 NTRK3 4916 broad.mit.edu 37 15 88476307 88476307 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr15:88476307C>T uc002bme.1 - 15 1987 c.1825G>A c.(1825-1827)GAT>AAT p.D609N NTRK3_uc002bmh.2_Missense_Mutation_p.D601N|NTRK3_uc002bmf.1_Missense_Mutation_p.D609N|NTRK3_uc010upl.1_Missense_Mutation_p.D511N|NTRK3_uc010bnh.1_Missense_Mutation_p.D601N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 609 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGTCCCCATCGCCGCACACT 0.552 NaN T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 0 0 0 0.001168 0 6 46 AXIN1 8312 broad.mit.edu 37 16 339472 339472 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:339472G>C uc002cgp.1 - 10 2607 c.2430C>G c.(2428-2430)TTC>TTG p.F810L AXIN1_uc002cgq.1_Missense_Mutation_p.F774L NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 810 DIX. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GCAGCTCCTTGAACTGGCCCA 0.627 NaN 0 0 0 0.00245 0 13 52 C16orf5 29965 broad.mit.edu 37 16 4563773 4563773 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:4563773C>G uc002cwu.2 - 3 460 c.165G>C c.(163-165)GAG>GAC p.E55D C16orf5_uc002cwv.2_Missense_Mutation_p.E55D|C16orf5_uc002cww.2_Missense_Mutation_p.E55D|C16orf5_uc010uxl.1_Missense_Mutation_p.E55D|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA NM_013399 NP_037531 Q9H305 LITFL_HUMAN cell death inducing protein 55 Pro-rich. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway nucleus ovary(1) 1 Ovarian(90;0.17) GACCCGGCGGCTCATAGGGTG 0.647 NaN 0 0 0 0.003163 0 15 53 NPIP 9284 broad.mit.edu 37 16 15045813 15045813 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:15045813C>G uc002dcy.3 + 8 984 c.984C>G c.(982-984)CTC>CTG p.L328L NPIP_uc002dcx.3_RNA NM_006985 NP_008916 Q9UND3 NPIP_HUMAN nuclear pore complex interacting protein 328 Pro-rich. mRNA transport|protein transport|transmembrane transport nuclear membrane|nuclear pore 0 ATGATAATCTCAAGACACCTC 0.468 NaN 0 0 0 0.001168 0 4 60 LAT 27040 broad.mit.edu 37 16 28997739 28997739 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:28997739G>A uc002dsd.2 + 5 634 c.282G>A c.(280-282)ACG>ACA p.T94T uc010vct.1_Intron|LAT_uc010vdj.1_Silent_p.T130T|LAT_uc002dsb.2_Silent_p.T94T|LAT_uc002dsc.2_Silent_p.T93T|LAT_uc010vdk.1_Silent_p.T94T|LAT_uc010vdl.1_Silent_p.T93T NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a 94 Cytoplasmic (Potential). calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) CCCACCGGACGCCATCTTCCC 0.627 NaN 0 0 0 0.009535 0 29 67 SPN 6693 broad.mit.edu 37 16 29676187 29676187 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:29676187G>A uc002dtm.2 + 2 1274 c.1138G>A c.(1138-1140)GAG>AAG p.E380K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.E380K|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 380 Cytoplasmic (Potential). blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 GGTGGCCAGTGAGGATGGGGC 0.652 NaN 0 0 0 0.000602 0 3 14 CORO1A 11151 broad.mit.edu 37 16 30199708 30199708 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:30199708C>A uc002dww.2 + 10 1214 c.1092C>A c.(1090-1092)TAC>TAA p.Y364* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Nonsense_Mutation_p.Y364*|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Nonsense_Mutation_p.Y258*|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 364 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 AGGACCTGTACCCACCCACCG 0.647 NaN 1 0 6.05902e-23 0.003755 6.63898e-23 30 94 GNAO1 2775 broad.mit.edu 37 16 56385394 56385394 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:56385394C>G uc002eiu.3 + 7 1719 c.822C>G c.(820-822)CTC>CTG p.L274L NM_020988 NP_066268 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 274 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) AGAAAGATCTCTTTGGCGAGA 0.498 NaN 0 0 0 0.001168 0 5 58 NLRC5 84166 broad.mit.edu 37 16 57059987 57059987 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:57059987C>A uc002ekk.1 + 6 1357 c.1132C>A c.(1132-1134)CAC>AAC p.H378N NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.H183N|NLRC5_uc002ekl.2_Missense_Mutation_p.H183N|NLRC5_uc002ekm.2_Missense_Mutation_p.H183N|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 378 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) ATATGTGAATCACTTCTTCAG 0.537 NaN 1 0 1.01871e-10 0.008871 1.10234e-10 19 115 CDH16 1014 broad.mit.edu 37 16 66950200 66950200 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:66950200C>T uc002eql.2 - 4 335 c.262G>A c.(262-264)GAG>AAG p.E88K CDH16_uc010cdy.2_Missense_Mutation_p.E88K|CDH16_uc002eqm.2_Missense_Mutation_p.E88K NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 88 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCTGCCTGCTCCTCTCGGTCC 0.622 NaN 0 0 0 0.008291 0 10 54 PHLPP2 23035 broad.mit.edu 37 16 71701149 71701149 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr16:71701149G>C uc002fax.2 - 11 1722 c.1716C>G c.(1714-1716)CTC>CTG p.L572L PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L572L NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 572 LRR 15. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 CCAGCACCTCGAGGGGGATGT 0.478 NaN 0 0 0 0.001168 0 6 71 KIAA0664 23277 broad.mit.edu 37 17 2605236 2605236 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:2605236C>G uc002fuy.1 - 4 563 c.477G>C c.(475-477)CTG>CTC p.L159L KIAA0664_uc002fux.1_Silent_p.L91L NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 159 binding breast(2) 2 TGAAGACACTCAGGAAGGACA 0.667 NaN 0 0 0 0.004482 0 6 42 GGT6 124975 broad.mit.edu 37 17 4461953 4461953 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:4461953C>T uc002fyd.3 - 4 899 c.839G>A c.(838-840)GGA>GAA p.G280E GGT6_uc010vsb.1_Missense_Mutation_p.G132E|GGT6_uc002fyc.3_Missense_Mutation_p.G248E|GGT6_uc010vsc.1_Missense_Mutation_p.G286E NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 isoform a 280 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity skin(1) 1 CCCCAGGTCTCCCGCCAGTAG 0.657 NaN 0 0 0 0.006122 0 17 5 DHX33 56919 broad.mit.edu 37 17 5365687 5365687 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:5365687C>T uc002gca.2 - 3 632 c.630G>A c.(628-630)GTG>GTA p.V210V DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Silent_p.V37V|DHX33_uc010clf.2_Intron NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 210 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GTGCAGCTTTCACCACTCCAA 0.453 NaN 0 0 0 0.004878 0 38 19 CD68 968 broad.mit.edu 37 17 7483018 7483018 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:7483018C>T uc002ghv.2 + 1 214 c.23C>T c.(22-24)TCG>TTG p.S8L CD68_uc002ghu.2_Missense_Mutation_p.S8L NM_001251 NP_001242 P34810 CD68_HUMAN CD68 antigen isoform A 8 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane 0 GTGCTTTTCTCGGGGGCCCTG 0.642 NaN 0 0 0 0.004007 0 15 5 TP53 7157 broad.mit.edu 37 17 7578513 7578513 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:7578513C>G uc002gim.2 - 5 611 c.417G>C c.(415-417)AAG>AAC p.K139N TP53_uc002gig.1_Missense_Mutation_p.K139N|TP53_uc002gih.2_Missense_Mutation_p.K139N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K7N|TP53_uc010cng.1_Missense_Mutation_p.K7N|TP53_uc002gii.1_Missense_Mutation_p.K7N|TP53_uc010cnh.1_Missense_Mutation_p.K139N|TP53_uc010cni.1_Missense_Mutation_p.K139N|TP53_uc002gij.2_Missense_Mutation_p.K139N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K46N|TP53_uc002gio.2_Missense_Mutation_p.K7N|TP53_uc010vug.1_Missense_Mutation_p.K100N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 139 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> N (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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) CAGGGCAGGTCTTGGCCAGTT 0.567 111 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) 0 0 0 0.013114 0 41 12 MYH10 4628 broad.mit.edu 37 17 8395764 8395764 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:8395764C>T uc002gll.2 - 32 4525 c.4429G>A c.(4429-4431)GAG>AAG p.E1477K MYH10_uc002glm.2_Missense_Mutation_p.E1508K|MYH10_uc010cnx.2_Missense_Mutation_p.E1486K NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1477 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TCTCTGGCCTCGGCTTCGGCC 0.592 NaN 0 0 0 0.009096 0 4 72 MYH13 8735 broad.mit.edu 37 17 10209797 10209797 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:10209797C>A uc002gmk.1 - 37 5535 c.5445G>T c.(5443-5445)CAG>CAT p.Q1815H NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1815 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GTTTCTGGATCTGCTTCTTCC 0.537 NaN 1 0 8.00594e-06 0.007413 8.47344e-06 19 184 UNC119 9094 broad.mit.edu 37 17 26879509 26879509 + Nonsense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:26879509G>A uc002hbk.2 - 1 138 c.67C>T c.(67-69)CAG>TAG p.Q23* UNC119_uc002hbm.2_Nonsense_Mutation_p.Q23* NM_005148 NP_005139 Q13432 U119A_HUMAN unc119 (C.elegans) homolog isoform a 23 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction 0 Lung NSC(42;0.00431) GCCACGCTCTGGCCCGAGGGC 0.751 NaN 0 0 0 0.004672 0 3 8 CPD 1362 broad.mit.edu 37 17 28749923 28749923 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:28749923G>C uc002hfb.1 + 5 1554 c.1539G>C c.(1537-1539)TTG>TTC p.L513F CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 513 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 AAATCTTCTTGAGAAGGTTTG 0.393 NaN 0 0 0 0.00874 0 38 76 PSMD11 5717 broad.mit.edu 37 17 30807593 30807593 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:30807593C>T uc010cta.1 + 13 1253 c.1213C>T c.(1213-1215)CAG>TAG p.Q405* PSMD11_uc002hhm.2_Nonsense_Mutation_p.Q405* NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 405 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAAACAATTCAGAACATGAG 0.483 NaN 0 0 0 0.009096 0 4 78 NBR1 4077 broad.mit.edu 37 17 41329983 41329983 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:41329983C>G uc010czd.2 + 3 273 c.133C>G c.(133-135)CAA>GAA p.Q45E NBR1_uc010diz.2_Missense_Mutation_p.Q45E|NBR1_uc010whu.1_Missense_Mutation_p.Q45E|NBR1_uc010whv.1_Missense_Mutation_p.Q45E|NBR1_uc010whw.1_Intron NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 45 OPR. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GAATACTATTCAAATAAAATA 0.308 NaN 0 0 0 0.004672 0 3 28 MPP3 4356 broad.mit.edu 37 17 41907106 41907106 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:41907106G>A uc002iei.3 - 7 523 c.357C>T c.(355-357)CTC>CTT p.L119L MPP3_uc002ieh.2_Silent_p.L144L|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.L119L|MPP3_uc010wik.1_Silent_p.L144L|MPP3_uc010czj.1_3'UTR NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 119 signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GCAGAGGCGGGAGAACGGGGT 0.557 NaN 0 0 0 0.00333 0 23 91 C17orf53 78995 broad.mit.edu 37 17 42232692 42232692 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:42232692C>A uc002ifi.1 + 8 1871 c.1686C>A c.(1684-1686)CTC>CTA p.L562L C17orf53_uc010czq.1_Silent_p.L561L|C17orf53_uc002ifj.1_Silent_p.L486L|C17orf53_uc002ifk.1_RNA NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 562 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) ATCACTACCTCAACGTGACAC 0.527 NaN 1 0 2.56e-06 0.009096 2.72274e-06 4 103 ASB16 92591 broad.mit.edu 37 17 42255693 42255693 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:42255693C>G uc002ifl.1 + 5 1381 c.1297C>G c.(1297-1299)CGG>GGG p.R433G ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_Intron NM_080863 NP_543139 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box-containing protein 433 SOCS box. intracellular signal transduction protein binding kidney(2) 2 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GGGTGCCACCCGGCTGCCACT 0.677 NaN 0 0 0 0.001984 0 6 13 EFTUD2 9343 broad.mit.edu 37 17 42936546 42936546 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:42936546C>G uc002ihn.2 - 19 2125 c.1864G>C c.(1864-1866)GAG>CAG p.E622Q EFTUD2_uc010wje.1_Missense_Mutation_p.E587Q|EFTUD2_uc010wjf.1_Missense_Mutation_p.E612Q NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 622 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) CCAGACTCCTCCACCTGAAAC 0.502 NaN 0 0 0 0.00308 0 8 73 TEX14 56155 broad.mit.edu 37 17 56690847 56690847 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:56690847C>G uc010dcz.1 - 9 1076 c.958G>C c.(958-960)GAG>CAG p.E320Q TEX14_uc002iwr.1_Missense_Mutation_p.E314Q|TEX14_uc002iws.1_Missense_Mutation_p.E314Q|TEX14_uc010dda.1_Missense_Mutation_p.E94Q NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 320 Protein kinase. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGGTTTTCTCTAGGTCCTGG 0.498 NaN 0 0 0 0.012213 0 30 57 TMEM49 81671 broad.mit.edu 37 17 57917167 57917167 + Silent SNP C C T rs111262775 byFrequency TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:57917167C>T uc002ixu.3 + 12 1389 c.1116C>T c.(1114-1116)GTC>GTT p.V372V TMEM49_uc010wog.1_Silent_p.V180V|TMEM49_uc010woh.1_Silent_p.V316V|TMEM49_uc010woi.1_Silent_p.V275V|TMEM49_uc010woj.1_Silent_p.V238V|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank NM_030938 NP_112200 Q96GC9 VMP1_HUMAN transmembrane protein 49 372 Helical; (Potential). autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;1.15e-09)|all cancers(12;1.15e-08) AAAAGTTGGTCGTTGTCATGG 0.388 NaN 0 0 0 0.013726 0 32 195 TLK2 11011 broad.mit.edu 37 17 60683562 60683562 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:60683562C>T uc010ddp.2 + 21 2265 c.1997C>T c.(1996-1998)TCG>TTG p.S666L TLK2_uc002izx.3_Missense_Mutation_p.S492L|TLK2_uc002izz.3_Missense_Mutation_p.S644L|TLK2_uc002jaa.3_Missense_Mutation_p.S612L|TLK2_uc010wpd.1_Missense_Mutation_p.S612L NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 666 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 GATGTGTGGTCGGTGGGTGTG 0.398 NaN 0 0 0 0.000602 0 3 36 STRADA 92335 broad.mit.edu 37 17 61787963 61787963 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:61787963C>G uc002jbm.2 - 8 628 c.469G>C c.(469-471)GAT>CAT p.D157H STRADA_uc002jbn.2_Missense_Mutation_p.D99H|STRADA_uc002jbo.2_Missense_Mutation_p.D120H|STRADA_uc002jbp.2_Missense_Mutation_p.D120H|STRADA_uc002jbq.2_Missense_Mutation_p.D99H|STRADA_uc010wpq.1_Missense_Mutation_p.D113H|STRADA_uc010wpr.1_Missense_Mutation_p.D128H|STRADA_uc010ddw.2_Missense_Mutation_p.D128H|STRADA_uc002jbr.2_Missense_Mutation_p.D99H NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 157 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 CAGATGAGATCTTTTGCAGAA 0.498 NaN 0 0 0 0.001168 0 6 35 GH1 2688 broad.mit.edu 37 17 61995219 61995219 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:61995219G>A uc002jdj.2 - 4 419 c.357C>T c.(355-357)CTC>CTT p.L119L GH1_uc002jdi.2_Silent_p.L104L|GH1_uc002jdk.2_Silent_p.L79L|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 119 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 AGACACTCCTGAGGAACTGCA 0.607 NaN 0 0 0 0.001855 0 13 80 CACNG5 27091 broad.mit.edu 37 17 64880683 64880683 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:64880683G>A uc010wqi.1 + 5 712 c.475G>A c.(475-477)GAG>AAG p.E159K CACNG5_uc002jfr.2_Missense_Mutation_p.E159K|CACNG5_uc010wqj.1_Missense_Mutation_p.E159K NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 159 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CATCAACGATGAGATGCTCAA 0.562 NaN 0 0 0 0.008291 0 10 71 ABCA8 10351 broad.mit.edu 37 17 66872823 66872823 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:66872823C>T uc002jhp.2 - 32 4280 c.4101G>A c.(4099-4101)CTG>CTA p.L1367L ABCA8_uc002jhq.2_Silent_p.L1407L|ABCA8_uc010wqq.1_Silent_p.L1402L NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1367 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GCTGGTCCTGCAGCTTGAGCG 0.498 NaN 0 0 0 0.00333 0 22 75 GRIN2C 2905 broad.mit.edu 37 17 72845996 72845996 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:72845996G>T uc002jlt.1 - 7 1724 c.1568C>A c.(1567-1569)TCT>TAT p.S523Y GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S523Y NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 523 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) AAAGGGTACAGAGAAGTCTAC 0.622 NaN 1 0 1.85244e-09 0.00333 1.99458e-09 25 76 GRIN2C 2905 broad.mit.edu 37 17 72846001 72846001 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:72846001G>A uc002jlt.1 - 7 1719 c.1563C>T c.(1561-1563)GAC>GAT p.D521D GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.D521D NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 521 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GTACAGAGAAGTCTACGATCT 0.617 NaN 0 0 0 0.00632 0 28 72 NUP85 79902 broad.mit.edu 37 17 73204673 73204673 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:73204673C>G uc002jng.1 + 2 345 c.85C>G c.(85-87)CCA>GCA p.P29A NUP85_uc010dgd.1_Missense_Mutation_p.P29A|NUP85_uc010wrv.1_Intron NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 29 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TGACTGGGGTCCAGGGGAGAT 0.358 NaN 0 0 0 0.001984 0 6 241 PCYT2 5833 broad.mit.edu 37 17 79864646 79864646 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:79864646G>A uc002kcf.1 - 7 729 c.666C>T c.(664-666)TTC>TTT p.F222F PCYT2_uc010wva.1_Silent_p.F190F|PCYT2_uc010wvb.1_Silent_p.F190F|PCYT2_uc002kce.1_Silent_p.F144F|PCYT2_uc002kcg.1_Silent_p.F251F|PCYT2_uc002kch.1_Silent_p.F240F|PCYT2_uc002kci.1_Silent_p.F181F|PCYT2_uc010dii.1_Silent_p.F222F|PCYT2_uc010wvc.1_Silent_p.F144F NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 222 Catalytic 2 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGAACAGGTCGAAGGCACCAG 0.607 NaN 0 0 0 0.006122 0 16 32 CD7 924 broad.mit.edu 37 17 80274695 80274695 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:80274695C>T uc002kel.1 - 2 354 c.245G>A c.(244-246)AGA>AAA p.R82K CD7_uc010din.2_Missense_Mutation_p.R82K|CD7_uc002kem.2_Silent_p.Q63Q|CD7_uc010wvk.1_Missense_Mutation_p.R82K NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 82 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CCGGAACCGTCTGTCCGTAGT 0.637 NaN 0 0 0 0.003271 0 37 84 TWSG1 57045 broad.mit.edu 37 18 9396405 9396405 + Silent SNP C C T rs143807731 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:9396405C>T uc002knz.2 + 4 542 c.351C>T c.(349-351)AAC>AAT p.N117N TWSG1_uc002koa.2_Silent_p.N42N NM_020648 NP_065699 Q9GZX9 TWSG1_HUMAN twisted gastrulation precursor 117 ovary(1)|pancreas(1) 2 TGAATTGGAACATCGTTTCTT 0.463 NaN 0 0 0 0.004007 0 14 92 POTEC 388468 broad.mit.edu 37 18 14513681 14513681 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:14513681C>T uc010dln.2 - 10 1967 c.1513G>A c.(1513-1515)GAA>AAA p.E505K POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 505 Potential. skin(3) 3 ATTTTCTTTTCAGCCACTTCT 0.299 NaN 0 0 0 0.003163 0 15 60 ROCK1 6093 broad.mit.edu 37 18 18629788 18629788 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:18629788C>T uc002kte.2 - 3 1170 c.229G>A c.(229-231)GAA>AAA p.E77K NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 77 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TTCACTACTTCATAATCTTCA 0.274 NaN 0 0 0 0.001855 0 11 15 ASXL3 80816 broad.mit.edu 37 18 31323516 31323516 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:31323516C>T uc010dmg.1 + 12 3759 c.3704C>T c.(3703-3705)TCT>TTT p.S1235F ASXL3_uc002kxq.2_Missense_Mutation_p.S942F NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1235 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AATAAAAATTCTGTCCCTGTA 0.373 NaN 0 0 0 0.00308 0 8 128 NARS 4677 broad.mit.edu 37 18 55270142 55270142 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:55270142C>T uc002lgs.2 - 12 1513 c.1285G>A c.(1285-1287)GAC>AAC p.D429N NARS_uc002lgt.2_Missense_Mutation_p.D428N|NARS_uc010xea.1_Missense_Mutation_p.D180N NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 429 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) TTAATGGTGTCTGTCATCAGT 0.448 NaN 0 0 0 0.001984 0 6 53 CDH7 1005 broad.mit.edu 37 18 63477229 63477229 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr18:63477229C>T uc002ljz.2 + 3 825 c.500C>T c.(499-501)CCC>CTC p.P167L CDH7_uc002lka.2_Missense_Mutation_p.P167L|CDH7_uc002lkb.2_Missense_Mutation_p.P167L NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 167 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GAAATGTCTCCCGTGGGTAAG 0.398 NaN 0 0 0 0.010818 0 31 46 TMEM146 257062 broad.mit.edu 37 19 5771022 5771022 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:5771022C>G uc002mda.2 + 19 1763 c.1702C>G c.(1702-1704)CAG>GAG p.Q568E TMEM146_uc010duj.1_Missense_Mutation_p.Q226E NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 568 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTACTCCTACCAGCAGCTGGG 0.607 NaN 0 0 0 0.013537 0 13 50 INSR 3643 broad.mit.edu 37 19 7125313 7125313 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:7125313C>G uc002mgd.1 - 17 3348 c.3239G>C c.(3238-3240)GGC>GCC p.G1080A INSR_uc002mge.1_Missense_Mutation_p.G1068A NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1080 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGGTGAAGCCCTTCATGAC 0.607 NaN 0 0 0 0.000602 0 5 43 ZNF266 10781 broad.mit.edu 37 19 9526415 9526415 + Nonsense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:9526415G>T uc002mll.2 - 3 385 c.119C>A c.(118-120)TCA>TAA p.S40* ZNF266_uc002mlm.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mln.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mlo.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwp.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwq.2_Nonsense_Mutation_p.S40* NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTCCATTCTGAAGCTGAAGA 0.398 NaN 1 0 4.3838e-07 0.001855 4.69693e-07 13 25 KRI1 65095 broad.mit.edu 37 19 10670041 10670041 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:10670041G>A uc002moy.1 - 12 1215 c.1206C>T c.(1204-1206)CTC>CTT p.L402L KRI1_uc002mow.1_Silent_p.L21L|KRI1_uc002mox.1_Silent_p.L398L NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 402 Glu-rich. ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GCACCTGCATGAGCTGGTCGT 0.488 NaN 0 0 0 0.006214 0 10 34 HSH2D 84941 broad.mit.edu 37 19 16268238 16268238 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:16268238C>T uc002ndp.3 + 9 1223 c.692C>T c.(691-693)TCG>TTG p.S231L HSH2D_uc002ndr.2_Silent_p.V174V|HSH2D_uc010ead.2_RNA NM_032855 NP_116244 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 231 cytoplasm|nucleus 0 GTGAACTTGTCGTCACTCTTG 0.602 NaN 0 0 0 0.00308 0 8 74 F2RL3 9002 broad.mit.edu 37 19 17000948 17000948 + Missense_Mutation SNP G G A rs147915788 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:17000948G>A uc002nfa.2 + 2 849 c.674G>A c.(673-675)CGC>CAC p.R225H NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 225 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CGCTCCGATCGCGTGCTCTGC 0.697 NaN 0 0 0 0.000602 0 4 14 MRPL34 64981 broad.mit.edu 37 19 17417150 17417150 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:17417150C>T uc002ngc.1 + 2 466 c.241C>T c.(241-243)CGC>TGC p.R81C ABHD8_uc002ngb.3_5'Flank NM_023937 NP_076426 Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 precursor 81 translation structural constituent of ribosome 0 GGTCATCCTTCGCCGAATGCT 0.652 NaN 0 0 0 0.004672 0 3 14 ZNF429 353088 broad.mit.edu 37 19 21719683 21719683 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:21719683G>A uc002nqd.1 + 4 965 c.828G>A c.(826-828)AAG>AAA p.K276K ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 276 C2H2-type 5. Missing (in Ref. 2; AAP30884 and 3; AAK01422). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTACCCATAAGAGAATTCATT 0.378 NaN 0 0 0 0.009096 0 4 35 ZNF91 7644 broad.mit.edu 37 19 23545301 23545301 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:23545301C>G uc002nre.2 - 4 593 c.480G>C c.(478-480)TTG>TTC p.L160F ZNF91_uc010xrj.1_Missense_Mutation_p.L128F NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 160 C2H2-type 1; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGAAGACTTTCAAATATTTCC 0.328 NaN 0 0 0 0.003163 0 15 51 ZNF91 7644 broad.mit.edu 37 19 23545372 23545372 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:23545372C>G uc002nre.2 - 4 522 c.409G>C c.(409-411)GAA>CAA p.E137Q ZNF91_uc010xrj.1_Missense_Mutation_p.E105Q NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 137 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTATAACCTTCTTTGTGCACC 0.299 NaN 0 0 0 0.005443 0 23 60 ZNF681 148213 broad.mit.edu 37 19 23938261 23938261 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:23938261C>G uc002nrk.3 - 2 238 c.96G>C c.(94-96)GTG>GTC p.V32V ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TCTCTAACATCACATTCCTAT 0.358 NaN 0 0 0 0.007413 0 17 95 TSHZ3 57616 broad.mit.edu 37 19 31768941 31768941 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:31768941C>T uc002nsy.3 - 2 1823 c.1758G>A c.(1756-1758)ACG>ACA p.T586T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 586 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TCTGGTTTTTCGTCGGGGAGA 0.552 NaN 0 0 0 0.012319 0 21 114 ZNF146 7705 broad.mit.edu 37 19 36727471 36727471 + Silent SNP T T G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:36727471T>G uc002odq.3 + 4 1652 c.129T>G c.(127-129)CCT>CCG p.P43P ZNF146_uc010eet.2_Silent_p.P43P|ZNF146_uc010eeu.2_Silent_p.P43P NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 43 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) GAGAGAAACCTTTTGAATGTA 0.418 NaN 0 0 0 0.01441 0 130 70 ZNF420 147923 broad.mit.edu 37 19 37619283 37619283 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:37619283C>T uc002ofl.2 + 5 1605 c.1390C>T c.(1390-1392)CAA>TAA p.Q464* NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 464 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAACTTACTCAACATGAGCG 0.423 NaN 0 0 0 0.009096 0 4 80 SIPA1L3 23094 broad.mit.edu 37 19 38610501 38610501 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:38610501G>A uc002ohk.2 + 9 3356 c.2847G>A c.(2845-2847)AGG>AGA p.R949R NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 949 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGGACATAAGGGAGATAGTGC 0.532 NaN 0 0 0 0.00308 0 7 115 EID2 163126 broad.mit.edu 37 19 40030401 40030401 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:40030401C>T uc002oma.2 - 1 438 c.319G>A c.(319-321)GAG>AAG p.E107K NM_153232 NP_694964 Q8N6I1 EID2_HUMAN CREBBP/EP300 inhibitor 2 107 Ala-rich. cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CGGGCGACCTCCGCCATCCGG 0.418 NaN 0 0 0 0.001168 0 6 90 ZNF574 64763 broad.mit.edu 37 19 42584035 42584035 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:42584035C>T uc002osm.3 + 2 1446 c.1277C>T c.(1276-1278)CCA>CTA p.P426L ZNF574_uc002osk.3_Missense_Mutation_p.P516L NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 426 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) ACACCAGTCCCACCAGAGGAA 0.587 NaN 0 0 0 0.008291 0 10 168 ZNF45 7596 broad.mit.edu 37 19 44417605 44417605 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:44417605G>C uc002oxu.1 - 4 2082 c.1983C>G c.(1981-1983)GTC>GTG p.V661V ZNF45_uc002oxw.1_Silent_p.V661V|ZNF45_uc002oxv.1_Silent_p.V661V NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 661 C2H2-type 18. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CATCAGCATGGACTCGCTGAT 0.433 NaN 0 0 0 0.013537 0 10 94 ZNF45 7596 broad.mit.edu 37 19 44418218 44418218 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:44418218G>C uc002oxu.1 - 4 1469 c.1370C>G c.(1369-1371)TCA>TGA p.S457* ZNF45_uc002oxw.1_Nonsense_Mutation_p.S457*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S457* NM_003425 NP_003416 Q02386 ZNF45_HUMAN zinc finger protein 45 457 C2H2-type 11. multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CAGAAGATTTGAGGCCTGGCT 0.473 NaN 0 0 0 0.001168 0 5 125 ZNF223 7766 broad.mit.edu 37 19 44571040 44571040 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:44571040C>T uc002oyf.1 + 5 1312 c.1059C>T c.(1057-1059)TTC>TTT p.F353F ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 353 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) GGAAGAGCTTCAGACGGTCCT 0.433 NaN 0 0 0 0.006122 0 17 140 CGB7 94027 broad.mit.edu 37 19 49558229 49558229 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:49558229T>C uc002pmd.2 - 2 417 c.52A>G c.(52-54)ACA>GCA p.T18A CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A NM_033142 NP_149133 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 7 18 T -> A. apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GATGCCCATGTCCCGCCCATG 0.657 NaN 0 0 0 0.009096 0 3 116 TNNT1 7138 broad.mit.edu 37 19 55652318 55652318 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:55652318C>T uc002qjb.3 - 9 409 c.320G>A c.(319-321)CGG>CAG p.R107Q TNNT1_uc002qiz.3_Missense_Mutation_p.R37Q|TNNT1_uc002qja.3_Missense_Mutation_p.R37Q|TNNT1_uc002qjc.3_Missense_Mutation_p.R107Q|TNNT1_uc002qje.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjd.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjf.2_Missense_Mutation_p.R103Q NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 107 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TCTCTCTGACCGGCGCCGCTC 0.602 NaN OREG0025677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 36 ZNF587 84914 broad.mit.edu 37 19 58371385 58371385 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:58371385C>T uc002qql.2 + 3 1743 c.1605C>T c.(1603-1605)CTC>CTT p.L535L ZNF587_uc002qqb.2_Silent_p.L492L|ZNF587_uc010yhh.1_Silent_p.L492L|ZNF587_uc002qqi.1_Silent_p.L492L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L534L NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN zinc finger protein 587 535 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GTTCCAGTCTCATTAAACACA 0.403 NaN 0 0 0 0.00499 0 16 89 ZNF329 79673 broad.mit.edu 37 19 58640693 58640693 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:58640693G>C uc002qrn.2 - 4 415 c.178C>G c.(178-180)CAG>GAG p.Q60E ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ATTGCTTCCTGAGTCCCTGGT 0.488 NaN 0 0 0 0.004672 0 3 120 CHMP2A 27243 broad.mit.edu 37 19 59063309 59063309 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr19:59063309C>G uc002qti.2 - 4 931 c.505G>C c.(505-507)GAT>CAT p.D169H CHMP2A_uc002qtj.2_Missense_Mutation_p.D169H|CHMP2A_uc002qtk.2_Missense_Mutation_p.D169H NM_198426 NP_940818 O43633 CHM2A_HUMAN chromatin modifying protein 2A 169 Interaction with VPS4B. DE->AA: Diminishes interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CCCAGCTCATCCAGAACCTGG 0.577 NaN 0 0 0 0.008871 0 21 44 ASAP2 8853 broad.mit.edu 37 2 9419502 9419502 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:9419502C>G uc002qzh.2 + 2 523 c.183C>G c.(181-183)ATC>ATG p.I61M ASAP2_uc002qzi.2_Missense_Mutation_p.I61M NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 61 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 TGAAAGCAATCAACAGCTCTG 0.428 NaN 0 0 0 0.005443 0 23 35 RAD51AP2 729475 broad.mit.edu 37 2 17696923 17696923 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:17696923C>G uc002rcl.1 - 1 2784 c.2760G>C c.(2758-2760)AAG>AAC p.K920N RAD51AP2_uc010exn.1_Missense_Mutation_p.K911N NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 920 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CAGAGTCATTCTTTCTGTGAA 0.289 NaN 0 0 0 0.006214 0 9 35 C2orf16 84226 broad.mit.edu 37 2 27801569 27801569 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:27801569G>C uc002rkz.3 + 1 2181 c.2130G>C c.(2128-2130)CAG>CAC p.Q710H NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 710 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ACGTGTGTCAGAATAGGGACT 0.418 NaN 0 0 0 0.012319 0 23 48 SLC30A6 55676 broad.mit.edu 37 2 32396442 32396442 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:32396442G>C uc002roe.1 + 2 127 c.90G>C c.(88-90)AGG>AGC p.R30S SLC30A6_uc002rof.1_Missense_Mutation_p.R30S|SLC30A6_uc010ymw.1_Intron|SLC30A6_uc010ezr.1_Missense_Mutation_p.R30S|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_5'UTR NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 30 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CTGACCGAAGGGTAAGTTATT 0.348 NaN 0 0 0 0.00308 0 7 36 PLEKHH2 130271 broad.mit.edu 37 2 43937144 43937144 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:43937144C>G uc010yny.1 + 12 2065 c.1982C>G c.(1981-1983)TCT>TGT p.S661C PLEKHH2_uc002rte.3_Missense_Mutation_p.S661C|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S660C NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 661 Ser-rich. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCTCTCTCCTCTGTGGCTTCT 0.458 NaN 0 0 0 0.004482 0 8 166 CHAC2 494143 broad.mit.edu 37 2 54001597 54001597 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:54001597C>G uc002rxk.1 + 3 585 c.490C>G c.(490-492)CTT>GTT p.L164V ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron NM_001008708 NP_001008708 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator-like 2 164 0 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGATGAGCATCTTTTCGCTTT 0.348 NaN 0 0 0 0.00308 0 7 49 C2orf78 388960 broad.mit.edu 37 2 74043855 74043855 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:74043855C>T uc002sjr.1 + 3 2626 c.2505C>T c.(2503-2505)CTC>CTT p.L835L NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 835 ovary(2) 2 TGACCAGTCTCCGGTCACTGC 0.502 NaN 0 0 0 0.004007 0 14 79 TSGA10 80705 broad.mit.edu 37 2 99721848 99721848 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:99721848C>G uc002szg.3 - 7 1061 c.433G>C c.(433-435)GAG>CAG p.E145Q TSGA10_uc002szh.3_Missense_Mutation_p.E145Q|TSGA10_uc002szi.3_Missense_Mutation_p.E145Q|TSGA10_uc010fin.1_Missense_Mutation_p.E145Q|TSGA10_uc010yvn.1_Missense_Mutation_p.E145Q NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 145 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 TCCAGCTCCTCTATCCTTTGT 0.338 NaN 0 0 0 0.004672 0 3 46 SLC9A4 389015 broad.mit.edu 37 2 103128724 103128724 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:103128724G>C uc002tbz.3 + 7 2008 c.1551G>C c.(1549-1551)GTG>GTC p.V517V NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 517 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 ACTACCAAGTGAGAGACAAGT 0.398 NaN 0 0 0 0.010504 0 20 79 CNTNAP5 129684 broad.mit.edu 37 2 125367461 125367461 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:125367461C>T uc002tno.2 + 12 2201 c.1837C>T c.(1837-1839)CCA>TCA p.P613S CNTNAP5_uc010flu.2_Missense_Mutation_p.P614S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 613 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGCAGCGGCCCACTGGGACC 0.522 NaN 0 0 0 0.000602 0 5 66 NEB 4703 broad.mit.edu 37 2 152470790 152470790 + Silent SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:152470790A>G uc010fnx.2 - 73 11063 c.10872T>C c.(10870-10872)GAT>GAC p.D3624D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3624 Nebulin 99. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCCACTCACATCACTCTGCA 0.338 NaN 0 0 0 0.012319 0 19 32 DHRS9 10170 broad.mit.edu 37 2 169939948 169939948 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:169939948C>T uc002uep.2 + 6 1927 c.423C>T c.(421-423)CTC>CTT p.L141L DHRS9_uc002ueq.2_Silent_p.L141L|DHRS9_uc010zdc.1_Silent_p.L201L|DHRS9_uc010zdd.1_Silent_p.L141L|DHRS9_uc010zde.1_Silent_p.L141L NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 141 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 TGTTTGGACTCATCAGTGTGA 0.488 NaN 0 0 0 0.008291 0 11 73 TTN 7273 broad.mit.edu 37 2 179413733 179413733 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:179413733C>T uc010zfg.1 - 288 85140 c.84916G>A c.(84916-84918)GAG>AAG p.E28306K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22001K|TTN_uc010zfi.1_Missense_Mutation_p.E21934K|TTN_uc010zfj.1_Missense_Mutation_p.E21809K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29233 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACATGCCTCTGCATTCACC 0.423 NaN 0 0 0 0.007413 0 18 83 TTN 7273 broad.mit.edu 37 2 179501355 179501355 + Missense_Mutation SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:179501355A>G uc010zfg.1 - 174 33619 c.33395T>C c.(33394-33396)GTT>GCT p.V11132A TTN_uc010zfh.1_Missense_Mutation_p.V4827A|TTN_uc010zfi.1_Missense_Mutation_p.V4760A|TTN_uc010zfj.1_Missense_Mutation_p.V4635A|TTN_uc010fre.1_Missense_Mutation_p.V993A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12059 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAAGAGCCAACGAACTCTGA 0.463 NaN 0 0 0 0.001168 0 6 63 STAT1 6772 broad.mit.edu 37 2 191839600 191839600 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:191839600C>G uc002usj.2 - 24 2582 c.2194G>C c.(2194-2196)GAC>CAC p.D732H STAT1_uc010fse.1_Missense_Mutation_p.D732H NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 732 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GACACCTCGTCAAACTCCTCA 0.493 NaN 0 0 0 0.001984 0 7 40 SDPR 8436 broad.mit.edu 37 2 192701173 192701173 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:192701173C>T uc002utb.2 - 2 1084 c.754G>A c.(754-756)GAG>AAG p.E252K NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 252 Potential. caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ATCTTTTTCTCGATGTTCTGG 0.423 NaN 0 0 0 0.01441 0 84 186 DNAH7 56171 broad.mit.edu 37 2 196671502 196671502 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:196671502G>C uc002utj.3 - 54 10239 c.10138C>G c.(10138-10140)CAA>GAA p.Q3380E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3380 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGCATCCTTTGAAACTCATTT 0.383 NaN 0 0 0 0.004007 0 17 36 HECW2 57520 broad.mit.edu 37 2 197138838 197138838 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:197138838C>A uc002utm.1 - 16 3328 c.3145G>T c.(3145-3147)GAT>TAT p.D1049Y HECW2_uc002utl.1_Missense_Mutation_p.D693Y NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1049 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 TGTCGAGAATCTTCTCCTACC 0.438 NaN 1 0 0.000219431 0.00245 0.000230006 14 24 RFTN2 130132 broad.mit.edu 37 2 198508944 198508944 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:198508944C>A uc002uuo.3 - 3 778 c.376G>T c.(376-378)GAG>TAG p.E126* NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 126 plasma membrane 0 GGACATTCCTCAATCACGAGC 0.433 NaN 1 0 6.40141e-05 0.010729 6.74241e-05 10 39 RFTN2 130132 broad.mit.edu 37 2 198508990 198508990 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:198508990C>G uc002uuo.3 - 3 732 c.330G>C c.(328-330)AAG>AAC p.K110N NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 110 plasma membrane 0 CTGCCGAATTCTTTGGGCTGT 0.463 NaN 0 0 0 0.004482 0 9 29 BMPR2 659 broad.mit.edu 37 2 203420028 203420028 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:203420028C>T uc002uzf.3 + 12 2788 c.1640C>T c.(1639-1641)TCT>TTT p.S547F BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 547 Poly-Ser.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 CCAGATTATTCTTCCTCCTCA 0.383 NaN 0 0 0 0.00245 0 15 24 ADAM23 8745 broad.mit.edu 37 2 207310119 207310119 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:207310119C>T uc002vbq.2 + 2 526 c.303C>T c.(301-303)ATC>ATT p.I101I ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 101 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GCAGTAATATCAGTTACAGCA 0.413 NaN 0 0 0 0.000602 0 5 92 ADAM23 8745 broad.mit.edu 37 2 207437917 207437917 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:207437917C>G uc002vbq.2 + 18 1958 c.1735C>G c.(1735-1737)CAG>GAG p.Q579E ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 579 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGACTCTGGTCAGGTATGGCG 0.284 NaN 0 0 0 0.00632 0 27 63 CRYGB 1419 broad.mit.edu 37 2 209007482 209007482 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:209007482C>G uc002vcp.3 - 3 441 c.408G>C c.(406-408)GAG>GAC p.E136D NM_005210 NP_005201 P07316 CRGB_HUMAN crystallin, gamma B 136 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens 0 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) AGTTGGGCATCTCATAGAGGA 0.542 NaN 0 0 0 0.004289 0 34 81 STK16 8576 broad.mit.edu 37 2 220112206 220112206 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:220112206G>C uc002vko.2 + 5 667 c.510G>C c.(508-510)ATG>ATC p.M170I GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.M52I|STK16_uc010zky.1_Missense_Mutation_p.M170I|STK16_uc010fwf.2_Missense_Mutation_p.M170I|STK16_uc002vkp.2_Missense_Mutation_p.M170I|STK16_uc002vkr.2_Missense_Mutation_p.M103I|STK16_uc002vkq.2_Missense_Mutation_p.M215I NM_001008910 NP_001008910 O75716 STK16_HUMAN serine/threonine kinase 16 170 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGGTTCCATGAATCAAGCAT 0.507 NaN 0 0 0 0.008361 0 29 143 INHA 3623 broad.mit.edu 37 2 220437228 220437228 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:220437228C>T uc002vmk.1 + 1 276 c.132C>T c.(130-132)CCC>CCT p.P44P OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank NM_002191 NP_002182 P05111 INHA_HUMAN inhibin alpha subunit precursor 44 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) TGGGGCCCCCCGCGGTGACCA 0.687 NaN OREG0003991 type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.001984 0 7 10 WDR69 164781 broad.mit.edu 37 2 228771965 228771965 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:228771965G>C uc002vpn.1 + 10 1049 c.970G>C c.(970-972)GAT>CAT p.D324H WDR69_uc010zlw.1_Missense_Mutation_p.D309H|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 324 WD 6. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGCTTCAGCTGATGGTAGGTG 0.373 NaN 0 0 0 0.000602 0 5 21 SP100 6672 broad.mit.edu 37 2 231406036 231406036 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:231406036G>C uc002vqu.1 + 27 2493 c.2352G>C c.(2350-2352)TTG>TTC p.L784F SP100_uc010fxp.1_Missense_Mutation_p.L102F NM_001080391 NP_001073860 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 1 Error:Variant_position_missing_in_P23497_after_alignment DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCCTCCTCTTGAAGGTCTACT 0.388 NaN 0 0 0 0.008291 0 8 45 CAB39 51719 broad.mit.edu 37 2 231683405 231683405 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:231683405C>T uc002vqx.2 + 9 1444 c.1012C>T c.(1012-1014)CAG>TAG p.Q338* CAB39_uc010fxr.2_Nonsense_Mutation_p.Q338*|CAB39_uc010fxq.2_Nonsense_Mutation_p.Q338*|CAB39_uc002vqy.2_Nonsense_Mutation_p.Q93* NM_016289 NP_057373 Q9Y376 CAB39_HUMAN calcium binding protein 39 338 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1) 1 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) GAGACCAGCTCAGCAAGAAGC 0.403 NaN 0 0 0 0.004482 0 8 12 UGT1A3 54659 broad.mit.edu 37 2 234637776 234637776 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:234637776G>A uc002vuy.2 + 1 4 c.4G>A c.(4-6)GCC>ACC p.A2T UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.A2T NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 2 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGCTGAGATGGCCACAGGACT 0.572 NaN OREG0003835 type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.004672 0 3 72 ASB18 401036 broad.mit.edu 37 2 237103689 237103689 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:237103689C>T uc010znh.1 - 6 1227 c.1227G>A c.(1225-1227)CCG>CCA p.P409P NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 409 SOCS box. intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) ACTGGTAGAACGGCTTGTGCA 0.542 NaN 0 0 0 0.001984 0 7 24 COL6A3 1293 broad.mit.edu 37 2 238262009 238262009 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:238262009C>G uc002vwl.2 - 25 6950 c.6665G>C c.(6664-6666)GGA>GCA p.G2222A COL6A3_uc002vwo.2_Missense_Mutation_p.G2016A|COL6A3_uc010znj.1_Missense_Mutation_p.G1615A|COL6A3_uc002vwp.1_Missense_Mutation_p.G43A NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2222 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCCTGCTCTCCCTCAAAGCC 0.478 NaN 0 0 0 0.013537 0 10 44 KIF1A 547 broad.mit.edu 37 2 241706751 241706751 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:241706751G>C uc002vzy.2 - 17 1628 c.1482C>G c.(1480-1482)CTC>CTG p.L494L KIF1A_uc010fzk.2_Silent_p.L503L|KIF1A_uc002vzz.1_Silent_p.L503L NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 494 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TCAGGTTGACGAGGTGTGGTG 0.607 NaN 0 0 0 0.009096 0 3 19 C20orf12 55184 broad.mit.edu 37 20 18374906 18374906 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:18374906G>C uc010zsa.1 - 16 1966 c.1757C>G c.(1756-1758)TCC>TGC p.S586C C20orf12_uc010zrz.1_Missense_Mutation_p.S105C|C20orf12_uc002wqp.3_Missense_Mutation_p.S277C|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.S453C|C20orf12_uc002wqq.3_Missense_Mutation_p.S567C NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 394 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) ACCCCAGCTGGACCTGCTGCC 0.512 NaN 0 0 0 0.008291 0 10 17 SLC32A1 140679 broad.mit.edu 37 20 37357240 37357240 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:37357240C>G uc002xjc.2 + 2 1799 c.1536C>G c.(1534-1536)CTC>CTG p.L512L NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 512 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGCACTCCCTCGAGGGCCTCA 0.667 NaN 0 0 0 0.004672 0 3 29 DPM1 8813 broad.mit.edu 37 20 49574949 49574949 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr20:49574949C>G uc002xvw.1 - 1 112 c.112G>C c.(112-114)GAG>CAG p.E38Q DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank NM_003859 NP_003850 O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase 1 38 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding ovary(1) 1 GGCAGGTTCTCGCGCTCGTTG 0.582 NaN 0 0 0 0.004007 0 16 25 RBM11 54033 broad.mit.edu 37 21 15588577 15588577 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr21:15588577G>A uc002yjo.3 + 1 112 c.70G>A c.(70-72)GAG>AAG p.E24K RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_5'UTR NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 24 RRM. nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AGTTCGGGAAGAGATTCTGTA 0.612 NaN 0 0 0 0.004672 0 3 24 TRPM2 7226 broad.mit.edu 37 21 45817728 45817728 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr21:45817728G>A uc002zet.1 + 14 2244 c.2031G>A c.(2029-2031)GCG>GCA p.A677A TRPM2_uc002zeu.1_Silent_p.A677A|TRPM2_uc002zew.1_Silent_p.A677A|TRPM2_uc010gpt.1_Silent_p.A677A|TRPM2_uc002zex.1_Silent_p.A463A|TRPM2_uc002zey.1_Silent_p.A190A NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 677 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGATGCTGGCGCTGGCGGAGG 0.642 NaN 0 0 0 0.006214 0 10 20 LRRC3 81543 broad.mit.edu 37 21 45876666 45876666 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr21:45876666G>A uc002zfa.2 + 2 432 c.139G>A c.(139-141)GCT>ACT p.A47T NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN leucine-rich repeat-containing 3 precursor 47 LRRNT. integral to membrane protein binding 0 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) AGGGGCTGTGGCTGTCTTCTG 0.667 NaN 0 0 0 0.001984 0 7 34 CYTSA 23384 broad.mit.edu 37 22 24759250 24759250 + Nonsense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:24759250C>A uc002zzw.2 + 12 3072 c.2765C>A c.(2764-2766)TCA>TAA p.S922* CYTSA_uc002zzv.3_Nonsense_Mutation_p.S922*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.S922* NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 922 cell cycle|cell division 0 AGAACATCTTCAGCCAGCCGG 0.403 NaN 1 0 1.5739e-10 0.004007 1.69887e-10 16 16 RFPL1 5988 broad.mit.edu 37 22 29834919 29834919 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:29834919C>G uc003afn.2 + 1 348 c.139C>G c.(139-141)CTA>GTA p.L47V RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 47 RING-type. zinc ion binding 0 CTCAGACTATCTAGAGAAACC 0.517 NaN 0 0 0 0.001855 0 14 74 RFPL1 5988 broad.mit.edu 37 22 29835036 29835036 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:29835036C>G uc003afn.2 + 1 465 c.256C>G c.(256-258)CAG>GAG p.Q86E RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 86 zinc ion binding 0 CATGGTCTCTCAGAAGAACAA 0.522 NaN 0 0 0 0.010729 0 9 111 OSBP2 23762 broad.mit.edu 37 22 31289134 31289134 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:31289134C>T uc003aiy.1 + 9 1999 c.1895C>T c.(1894-1896)GCG>GTG p.A632V OSBP2_uc011ala.1_Missense_Mutation_p.A466V|OSBP2_uc010gwc.1_Missense_Mutation_p.A459V|OSBP2_uc011alb.1_Missense_Mutation_p.A583V|OSBP2_uc003aiz.1_Missense_Mutation_p.A631V|OSBP2_uc003aja.1_Missense_Mutation_p.A265V|OSBP2_uc011alc.1_Missense_Mutation_p.A374V|OSBP2_uc003ajb.2_Missense_Mutation_p.A177V|OSBP2_uc011ald.1_Missense_Mutation_p.A176V|OSBP2_uc010gwd.1_Missense_Mutation_p.A177V NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 632 lipid transport membrane lipid binding breast(1)|skin(1) 2 CCCTCAGCTGCGCACTACGTG 0.592 NaN 0 0 0 0.000602 0 5 27 GGA1 26088 broad.mit.edu 37 22 38021890 38021890 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:38021890G>A uc003atc.2 + 11 1392 c.1027G>A c.(1027-1029)GAG>AAG p.E343K GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.E343K|GGA1_uc003atf.2_Missense_Mutation_p.E270K NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 343 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|ovary(1) 3 Melanoma(58;0.0574) CCGCCCTGGCGAGCAGGCCAG 0.687 NaN 0 0 0 0.013537 0 12 43 CELSR1 9620 broad.mit.edu 37 22 46929664 46929664 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr22:46929664G>C uc003bhw.1 - 1 3404 c.3404C>G c.(3403-3405)TCA>TGA p.S1135* NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1135 Extracellular (Potential).|Cadherin 9. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGGCTGTCTGACACGTCGGG 0.617 NaN 0 0 0 0.001984 0 6 75 C3orf24 115795 broad.mit.edu 37 3 10146259 10146259 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:10146259C>T uc003buz.2 - 2 425 c.200G>A c.(199-201)GGA>GAA p.G67E C3orf24_uc003bva.1_Missense_Mutation_p.G67E NM_173472 NP_775743 Q96PS1 CC024_HUMAN hypothetical protein LOC115795 67 0 OV - Ovarian serous cystadenocarcinoma(96;0.196) GGGACTCACTCCAGATTCCAG 0.557 NaN 0 0 0 0.001855 0 14 49 ANKRD28 23243 broad.mit.edu 37 3 15726759 15726759 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:15726759G>A uc003caj.1 - 21 2416 c.2273C>T c.(2272-2274)ACG>ATG p.T758M ANKRD28_uc003cai.1_Missense_Mutation_p.T604M|ANKRD28_uc011avz.1_Missense_Mutation_p.T604M|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T788M|ANKRD28_uc003cam.2_Missense_Mutation_p.T791M NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 758 ANK 22. nucleoplasm protein binding breast(1) 1 GTGAAGTGCCGTATATCCATG 0.423 NaN 0 0 0 0.009096 0 4 162 TRANK1 9881 broad.mit.edu 37 3 36874249 36874249 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:36874249C>G uc003cgj.2 - 12 5345 c.5043G>C c.(5041-5043)AAG>AAC p.K1681N NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2231 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GATGGAAATGCTTAGGGAAAA 0.378 NaN 0 0 0 0.012213 0 32 57 SETD2 29072 broad.mit.edu 37 3 47162371 47162371 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:47162371G>A uc003cqs.2 - 3 3808 c.3755C>T c.(3754-3756)TCA>TTA p.S1252L SETD2_uc003cqv.2_Missense_Mutation_p.S1241L NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1252 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAGCTCTTCTGATGAGTGCAA 0.453 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.008291 0 11 86 PTPN23 25930 broad.mit.edu 37 3 47447452 47447452 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:47447452C>T uc003crf.1 + 6 558 c.462C>T c.(460-462)TTC>TTT p.F154F PTPN23_uc011baw.1_Silent_p.F119F|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.F24F NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 154 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCGGCGCCTTCGCCTACCTAC 0.612 NaN 0 0 0 0.001984 0 7 22 CELSR3 1951 broad.mit.edu 37 3 48698212 48698212 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:48698212C>T uc003cul.2 - 1 2137 c.1856G>A c.(1855-1857)CGC>CAC p.R619H CELSR3_uc003cuf.1_Missense_Mutation_p.R689H NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 619 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGCCCTGATGCGCAAGGCATA 0.587 NaN 0 0 0 0.001168 0 6 25 STAB1 23166 broad.mit.edu 37 3 52554987 52554987 + Missense_Mutation SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:52554987C>A uc003dej.2 + 55 5948 c.5874C>A c.(5872-5874)AGC>AGA p.S1958R STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1958 Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGAAGCCCAGCTGCTGCCCTG 0.617 NaN 1 0 3.07112e-06 0.010729 3.25838e-06 12 17 MYH15 22989 broad.mit.edu 37 3 108179195 108179195 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:108179195C>G uc003dxa.1 - 18 2001 c.1944G>C c.(1942-1944)AAG>AAC p.K648N NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 648 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCTTTCGTTTCTTCTCCCCAA 0.269 NaN 0 0 0 0.004672 0 3 15 POLQ 10721 broad.mit.edu 37 3 121208086 121208086 + Nonsense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:121208086G>C uc003eee.3 - 16 3821 c.3692C>G c.(3691-3693)TCA>TGA p.S1231* POLQ_uc003eed.2_Nonsense_Mutation_p.S403* NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1231 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AGTAACATTTGAGTCTCTATT 0.333 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.012213 0 33 134 KALRN 8997 broad.mit.edu 37 3 124066028 124066028 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:124066028C>A uc003ehg.2 + 10 1807 c.1680C>A c.(1678-1680)CTC>CTA p.L560L KALRN_uc010hrv.1_Silent_p.L560L|KALRN_uc003ehf.1_Silent_p.L560L|KALRN_uc011bjy.1_Silent_p.L560L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 560 Spectrin 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGGCCTTTCTCAGCAAACACA 0.478 NaN 1 0 6.2361e-21 0.007835 6.81584e-21 36 141 KALRN 8997 broad.mit.edu 37 3 124174160 124174160 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:124174160G>C uc003ehg.2 + 22 3810 c.3683G>C c.(3682-3684)GGA>GCA p.G1228A KALRN_uc010hrv.1_Missense_Mutation_p.G1219A|KALRN_uc003ehf.1_Missense_Mutation_p.G1228A|KALRN_uc011bjy.1_Missense_Mutation_p.G1219A|KALRN_uc003ehh.1_Missense_Mutation_p.G574A NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1228 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTGAGGATGGGAAAGTACCGA 0.522 NaN 0 0 0 0.013537 0 12 79 PPP2R3A 5523 broad.mit.edu 37 3 135721778 135721778 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:135721778C>G uc003eqv.1 + 2 2003 c.1438C>G c.(1438-1440)CTA>GTA p.L480V PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 480 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 ATTTGTTAATCTACCTAAGGA 0.338 NaN 0 0 0 0.008291 0 11 58 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.003163 0 16 67 FXR1 8087 broad.mit.edu 37 3 180693957 180693957 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:180693957C>T uc003fkq.2 + 17 1765 c.1743C>T c.(1741-1743)AAC>AAT p.N581N FXR1_uc003fkp.2_Silent_p.N496N|FXR1_uc003fkr.2_3'UTR|FXR1_uc011bqj.1_3'UTR|FXR1_uc003fks.2_Silent_p.N524N|FXR1_uc011bqk.1_3'UTR|FXR1_uc011bql.1_Silent_p.N568N NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 581 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AGGCAATAAACGGCCCAACTA 0.393 NaN 0 0 0 0.00499 0 18 44 MAP3K13 9175 broad.mit.edu 37 3 185191526 185191526 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:185191526C>T uc010hyf.2 + 12 2673 c.2407C>T c.(2407-2409)CGA>TGA p.R803* MAP3K13_uc011brt.1_Nonsense_Mutation_p.R596*|MAP3K13_uc011bru.1_Nonsense_Mutation_p.R659*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.R803*|MAP3K13_uc010hyg.2_Nonsense_Mutation_p.R493* NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 803 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGCGCTACCTCGAAAAACAAG 0.507 NaN 0 0 0 0.001855 0 11 213 PPP2R2C 5522 broad.mit.edu 37 4 6335373 6335373 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:6335373G>A uc003gjc.2 - 7 1246 c.876C>T c.(874-876)AGC>AGT p.S292S PPP2R2C_uc003gjb.2_Silent_p.S275S|PPP2R2C_uc011bwd.1_Silent_p.S285S|PPP2R2C_uc011bwe.1_Silent_p.S285S|PPP2R2C_uc003gja.2_Silent_p.S292S|PPP2R2C_uc003gjd.1_Silent_p.S380S NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 292 WD 5. signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TGTAGCGGCCGCTGTGGCTGA 0.562 NaN OREG0016071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 19 82 PGM2 55276 broad.mit.edu 37 4 37848724 37848724 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:37848724C>T uc011byb.1 + 9 1253 c.1180C>T c.(1180-1182)CAT>TAT p.H394Y PGM2_uc011bya.1_Missense_Mutation_p.H255Y|PGM2_uc011byc.1_Missense_Mutation_p.H234Y NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 394 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 GGAAGGTTTTCATTTTGAGGT 0.448 NaN 0 0 0 0.007291 0 28 79 TBC1D1 23216 broad.mit.edu 37 4 38022296 38022296 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:38022296C>T uc003gtb.2 + 5 1400 c.1057C>T c.(1057-1059)CAG>TAG p.Q353* TBC1D1_uc011byd.1_Nonsense_Mutation_p.Q353*|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q224* NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 353 PID. nucleus Rab GTPase activator activity ovary(1) 1 TTACGTGTTTCAGTGCACAAA 0.478 NaN 0 0 0 0.003755 0 36 130 KLB 152831 broad.mit.edu 37 4 39448977 39448977 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:39448977G>C uc003gua.2 + 4 2728 c.2631G>C c.(2629-2631)CGG>CGC p.R877R KLB_uc011byj.1_Silent_p.R868R NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 877 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GGTGGGTCCGGAGGAACTACG 0.622 NaN 0 0 0 0.008871 0 20 73 GUF1 60558 broad.mit.edu 37 4 44680684 44680684 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:44680684C>T uc003gww.3 + 1 252 c.45C>T c.(43-45)CTC>CTT p.L15L GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 15 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 CACGCGCTCTCGCGCCACGAG 0.736 NaN 0 0 0 0.004672 0 3 9 SCFD2 152579 broad.mit.edu 37 4 53751964 53751964 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:53751964C>T uc003gzu.2 - 8 2046 c.1912G>A c.(1912-1914)GAA>AAA p.E638K SCFD2_uc010igm.2_Missense_Mutation_p.E593K NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 638 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATTTTCACTTCAGAGACTGTG 0.498 NaN 0 0 0 0.003163 0 15 42 SMR3A 26952 broad.mit.edu 37 4 71232491 71232491 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:71232491G>C uc003hfg.1 + 3 266 c.185G>C c.(184-186)AGA>ACA p.R62T SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 62 Pro-rich. extracellular region 0 all_hematologic(202;0.196) GGTCCAGGGAGATTTCCACCA 0.547 NaN 0 0 0 0.000602 0 5 97 ADAMTS3 9508 broad.mit.edu 37 4 73169687 73169687 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:73169687C>T uc003hgk.1 - 17 2408 c.2371G>A c.(2371-2373)GAC>AAC p.D791N ADAMTS3_uc003hgl.2_Missense_Mutation_p.D132N NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 791 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTTCAATGTCATCTTCAATG 0.423 NaN 0 0 0 0.008871 0 21 97 C4orf22 255119 broad.mit.edu 37 4 81283911 81283911 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:81283911G>A uc003hmf.2 + 2 164 c.115G>A c.(115-117)GAA>AAA p.E39K C4orf22_uc010ijp.2_Missense_Mutation_p.E39K NM_152770 NP_689983 Q6V702 CD022_HUMAN hypothetical protein LOC255119 39 skin(2) 2 TCTCTAGGATGAAACCCTGGC 0.433 NaN 0 0 0 0.004656 0 24 110 ANK2 287 broad.mit.edu 37 4 114275389 114275389 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:114275389C>T uc003ibe.3 + 38 5715 c.5615C>T c.(5614-5616)TCG>TTG p.S1872L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1887L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1839 Repeat A.|Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCGTCATCATCGAGTAAAACT 0.453 NaN 0 0 0 0.003271 0 34 107 GUCY1A3 2982 broad.mit.edu 37 4 156634390 156634390 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr4:156634390G>A uc003iov.2 + 8 1763 c.1227G>A c.(1225-1227)CTG>CTA p.L409L GUCY1A3_uc010iqc.2_Silent_p.L409L|GUCY1A3_uc003iow.2_Silent_p.L409L|GUCY1A3_uc010iqd.2_Silent_p.L408L|GUCY1A3_uc003iox.2_Silent_p.L409L|GUCY1A3_uc003ioz.2_Silent_p.L174L|GUCY1A3_uc003ioy.2_Silent_p.L409L|GUCY1A3_uc010iqe.2_Silent_p.L174L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.L409L NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 409 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ACAATGCACTGAGGGATGTGG 0.522 NaN 0 0 0 0.010729 0 12 29 ADCY2 108 broad.mit.edu 37 5 7743786 7743786 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:7743786C>T uc003jdz.1 + 15 1944 c.1877C>T c.(1876-1878)TCC>TTC p.S626F ADCY2_uc011cmo.1_Missense_Mutation_p.S446F NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 626 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGTAGAACGTCCGTCCTGGGC 0.493 NaN 0 0 0 0.013114 0 42 194 PRDM9 56979 broad.mit.edu 37 5 23521274 23521274 + Nonsense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:23521274C>G uc003jgo.2 + 6 676 c.494C>G c.(493-495)TCA>TGA p.S165* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 165 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGACAGCACTCAAGACTAAAA 0.453 NaN HNSCC(3;0.000094) 0 0 0 0.001855 0 14 69 ANKRA2 57763 broad.mit.edu 37 5 72856967 72856967 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:72856967G>C uc003kcu.1 - 3 1082 c.436C>G c.(436-438)CTG>GTG p.L146V ANKRA2_uc003kcv.2_Missense_Mutation_p.L146V NM_023039 NP_075526 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 146 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) TTTGCTAACAGAGGTGTGGTA 0.343 NaN 0 0 0 0.00245 0 11 34 RASGRF2 5924 broad.mit.edu 37 5 80369170 80369170 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:80369170C>T uc003kha.1 + 5 786 c.786C>T c.(784-786)CTC>CTT p.L262L RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.L90L NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 262 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTCACCAGCTCTACATCCTGG 0.512 NaN 0 0 0 0.008291 0 9 43 MCC 4163 broad.mit.edu 37 5 112363128 112363128 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:112363128C>T uc003kqj.3 - 17 2891 c.2361G>A c.(2359-2361)CTG>CTA p.L787L MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.L977L NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 787 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTAACTTCTTCAGTTTGTTTT 0.448 NaN 0 0 0 0.001984 0 6 82 ISOC1 51015 broad.mit.edu 37 5 128440990 128440990 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:128440990C>T uc003kva.2 + 3 560 c.542C>T c.(541-543)CCA>CTA p.P181L NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 181 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CTGGTACTTCCAAAGACCAAG 0.398 NaN 0 0 0 0.004482 0 9 25 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876702 139876702 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:139876702C>G uc003lfs.1 + 15 2967 c.2843C>G c.(2842-2844)TCT>TGT p.S948C ANKHD1_uc003lfq.1_Missense_Mutation_p.S967C|ANKHD1_uc003lfr.2_Missense_Mutation_p.S948C|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.S428C|ANKHD1_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 948 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACAAATTCTCTTGAACTT 0.428 NaN 0 0 0 0.009096 0 4 84 PCDHGC4 56098 broad.mit.edu 37 5 140865104 140865104 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:140865104G>C uc003lky.1 + 1 364 c.364G>C c.(364-366)GAG>CAG p.E122Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.E122Q NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 122 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAGAGGTAGAGATCGTAGA 0.582 NaN 0 0 0 0.00308 0 5 83 PCDH12 51294 broad.mit.edu 37 5 141336615 141336615 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:141336615C>T uc003llx.2 - 1 2013 c.802G>A c.(802-804)GCC>ACC p.A268T NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 268 Extracellular (Potential).|Cadherin 3. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTCTGTGGCGGTCAGTTTT 0.527 NaN 0 0 0 0.004656 0 25 35 TCOF1 6949 broad.mit.edu 37 5 149758896 149758896 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:149758896G>A uc003lry.2 + 16 2691 c.2583G>A c.(2581-2583)CAG>CAA p.Q861Q TCOF1_uc003lrw.2_Silent_p.Q861Q|TCOF1_uc011dch.1_Silent_p.Q861Q|TCOF1_uc003lrz.2_Silent_p.Q861Q|TCOF1_uc003lrx.2_Silent_p.Q784Q|TCOF1_uc003lsa.2_Silent_p.Q784Q|TCOF1_uc011dci.1_Intron NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 861 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCAGGCCCAGACAGGGCCAG 0.627 NaN 0 0 0 0.00278 0 25 37 FAT2 2196 broad.mit.edu 37 5 150925577 150925577 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:150925577G>C uc003lue.3 - 9 5124 c.5111C>G c.(5110-5112)TCT>TGT p.S1704C GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1704 Cadherin 15.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAGTTCATAGAGAAGACTCC 0.448 NaN 0 0 0 0.003755 0 36 47 ODZ2 57451 broad.mit.edu 37 5 167626878 167626878 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:167626878G>A uc010jjd.2 + 17 3145 c.3145G>A c.(3145-3147)GAA>AAA p.E1049K ODZ2_uc003lzr.3_Missense_Mutation_p.E826K|ODZ2_uc003lzt.3_Missense_Mutation_p.E422K|ODZ2_uc010jje.2_Missense_Mutation_p.E320K NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GGTTCTTCATGAAGAAATCGA 0.488 NaN 0 0 0 0.01441 0 79 118 ODZ2 57451 broad.mit.edu 37 5 167673915 167673915 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:167673915G>A uc010jjd.2 + 27 5944 c.5944G>A c.(5944-5946)GAA>AAA p.E1982K ODZ2_uc003lzr.3_Missense_Mutation_p.E1752K|ODZ2_uc003lzt.3_Missense_Mutation_p.E1355K|ODZ2_uc010jje.2_Missense_Mutation_p.E1246K NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CAACCCGCCTGAAAGCAATGC 0.557 NaN 0 0 0 0.008871 0 21 82 FAF2 23197 broad.mit.edu 37 5 175921066 175921066 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr5:175921066G>T uc003mej.3 + 6 603 c.550G>T c.(550-552)GAC>TAC p.D184Y NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 184 response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 TGATCACCAGGACTCTGATGA 0.398 NaN 1 0 7.26314e-15 0.007291 7.89867e-15 28 62 DSP 1832 broad.mit.edu 37 6 7578018 7578018 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:7578018G>C uc003mxp.1 + 21 3163 c.2884G>C c.(2884-2886)GAG>CAG p.E962Q DSP_uc003mxq.1_Missense_Mutation_p.E962Q NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 962 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCAGGATTATGAGCTCCAGCT 0.438 NaN 0 0 0 0.000602 0 5 93 SNRNP48 154007 broad.mit.edu 37 6 7602962 7602962 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:7602962G>C uc003mxr.2 + 6 761 c.702G>C c.(700-702)AAG>AAC p.K234N SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 234 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 ACATAACCAAGAAATCATATA 0.338 NaN 0 0 0 0.006214 0 9 27 PHACTR1 221692 broad.mit.edu 37 6 13182823 13182823 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:13182823C>T uc010jpc.2 + 7 901 c.569C>T c.(568-570)TCT>TTT p.S190F PHACTR1_uc011dir.1_Missense_Mutation_p.S190F|PHACTR1_uc003nag.1_Missense_Mutation_p.S190F|PHACTR1_uc003nah.1_Missense_Mutation_p.S190F NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 190 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGCCAGCTGTCTCTGCCTGCC 0.537 NaN 0 0 0 0.009096 0 4 234 PHACTR1 221692 broad.mit.edu 37 6 13182825 13182825 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:13182825C>T uc010jpc.2 + 7 903 c.571C>T c.(571-573)CTG>TTG p.L191L PHACTR1_uc011dir.1_Silent_p.L191L|PHACTR1_uc003nag.1_Silent_p.L191L|PHACTR1_uc003nah.1_Silent_p.L191L NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 191 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CCAGCTGTCTCTGCCTGCCCT 0.542 NaN 0 0 0 0.009096 0 4 228 MBOAT1 154141 broad.mit.edu 37 6 20126922 20126922 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:20126922G>A uc003ncx.1 - 7 745 c.540C>T c.(538-540)CCC>CCT p.P180P MBOAT1_uc011dji.1_Silent_p.P31P NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 180 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) CCAAAAAAGAGGGTTTCACTC 0.338 NaN OREG0017224 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 209 HIST1H1E 3008 broad.mit.edu 37 6 26156619 26156619 + Missense_Mutation SNP A A T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:26156619A>T uc003ngq.2 + 1 61 c.1A>T c.(1-3)ATG>TTG p.M1L HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 1 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 TGCCTTCAACATGTCCGAGAC 0.672 NaN 0 0 0 0.001168 0 5 197 BTN3A1 11119 broad.mit.edu 37 6 26407948 26407948 + Silent SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:26407948G>T uc003nhv.2 + 4 851 c.483G>T c.(481-483)GGG>GGT p.G161G BTN3A1_uc011dkj.1_Silent_p.G161G|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Silent_p.G161G NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 161 Ig-like V-type 2.|Extracellular (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 AGGATGGAGGGATCCATCTGG 0.488 NaN 1 0 1.12685e-05 0.004482 1.18976e-05 9 118 C6orf15 29113 broad.mit.edu 37 6 31079483 31079483 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:31079483C>T uc003nsk.1 - 2 653 c.653G>A c.(652-654)TGG>TAG p.W218* NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 218 0 TCCACCTCCCCAGGACACACT 0.612 NaN 0 0 0 0.004482 0 8 98 UHRF1BP1 54887 broad.mit.edu 37 6 34802629 34802629 + Silent SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:34802629C>G uc003oju.3 + 6 894 c.660C>G c.(658-660)CTC>CTG p.L220L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 220 ovary(3) 3 AAATAGCCCTCAAAAGAAGAG 0.438 NaN 0 0 0 0.009096 0 3 73 DNAH8 1769 broad.mit.edu 37 6 38783350 38783350 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:38783350G>A uc003ooe.1 + 24 3389 c.2789G>A c.(2788-2790)CGT>CAT p.R930H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CAGCAAATCCGTCCCATCAAG 0.463 NaN 0 0 0 0.000602 0 5 32 GUCA1A 2978 broad.mit.edu 37 6 42146056 42146056 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:42146056C>A uc003orx.2 + 4 885 c.240C>A c.(238-240)CTC>CTA p.L80L GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.L80L NM_000409 NP_000400 P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 80 EF-hand 2. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGCAGCGCTCAGCTTGGTCC 0.622 NaN 1 0 2.12542e-12 0.00632 2.30563e-12 28 111 GPR110 266977 broad.mit.edu 37 6 46977428 46977428 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:46977428G>C uc003oyt.2 - 11 1942 c.1743C>G c.(1741-1743)ATC>ATG p.I581M GPR110_uc011dwl.1_Missense_Mutation_p.I269M NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 581 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CAACGGGGAAGATTGTAGAGG 0.438 NaN 0 0 0 0.013537 0 13 54 GPR110 266977 broad.mit.edu 37 6 46977848 46977848 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:46977848G>A uc003oyt.2 - 11 1522 c.1323C>T c.(1321-1323)CTC>CTT p.L441L GPR110_uc011dwl.1_Silent_p.L129L NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 441 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 AACCCCTTTTGAGTTGGCTTT 0.438 NaN 0 0 0 0.008291 0 10 70 PHF3 23469 broad.mit.edu 37 6 64421841 64421841 + Nonsense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:64421841C>T uc003pep.1 + 15 4383 c.4357C>T c.(4357-4359)CAA>TAA p.Q1453* PHF3_uc003pen.2_Nonsense_Mutation_p.Q1365*|PHF3_uc011dxs.1_Nonsense_Mutation_p.Q722* NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1453 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTGGGAGAATCAACCTACTAC 0.448 NaN 0 0 0 0.00499 0 17 53 IBTK 25998 broad.mit.edu 37 6 82891624 82891624 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:82891624C>G uc003pjl.1 - 26 4224 c.3697G>C c.(3697-3699)GAA>CAA p.E1233Q IBTK_uc011dyu.1_Missense_Mutation_p.E184Q|IBTK_uc011dyv.1_Missense_Mutation_p.E1218Q|IBTK_uc011dyw.1_Missense_Mutation_p.E1032Q|IBTK_uc010kbi.1_Missense_Mutation_p.E927Q NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 1233 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) TGAGAATTTTCAATTCCTTTA 0.308 NaN 0 0 0 0.004672 0 3 27 KIAA1009 22832 broad.mit.edu 37 6 84925148 84925148 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:84925148C>T uc010kbp.2 - 5 452 c.355G>A c.(355-357)GGA>AGA p.G119R KIAA1009_uc003pkj.3_Missense_Mutation_p.G43R|KIAA1009_uc003pkk.2_Missense_Mutation_p.G119R NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 119 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) AATCCCACTCCGAGACTACTA 0.333 NaN 0 0 0 0.001984 0 5 18 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:88299660G>A uc003pme.2 - 1 76 c.16C>T c.(16-18)CGC>TGC p.R6C ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672 NaN OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 0 0 0.004007 0 15 33 LAMA4 3910 broad.mit.edu 37 6 112476811 112476811 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:112476811C>T uc003pvu.2 - 15 2224 c.1915G>A c.(1915-1917)GAA>AAA p.E639K LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 639 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) TCTGCTGTTTCATTGGCTTCA 0.388 NaN 0 0 0 0.010729 0 10 61 C6orf174 387104 broad.mit.edu 37 6 127836879 127836879 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:127836879G>C uc003qbd.2 - 2 1746 c.881C>G c.(880-882)TCT>TGT p.S294C NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 294 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) AGGGGGGCCAGACACCGGGGA 0.741 NaN 0 0 0 0.009096 0 4 23 MED23 9439 broad.mit.edu 37 6 131927625 131927625 + Missense_Mutation SNP T T C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:131927625T>C uc003qcs.1 - 13 1535 c.1361A>G c.(1360-1362)CAC>CGC p.H454R MED23_uc003qcq.2_Missense_Mutation_p.H460R|MED23_uc011eca.1_Missense_Mutation_p.H95R|MED23_uc003qct.1_Missense_Mutation_p.H460R|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 454 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TTACTCATGGTGAAGTCTTAG 0.348 NaN 0 0 0 0.008291 0 8 36 CNKSR3 154043 broad.mit.edu 37 6 154754641 154754641 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr6:154754641C>G uc003qpy.2 - 5 1013 c.508G>C c.(508-510)GAT>CAT p.D170H NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 170 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) ACAAAGCAATCCTAAAGAAGG 0.368 NaN 0 0 0 0.004672 0 3 7 MAD1L1 8379 broad.mit.edu 37 7 2269702 2269702 + Nonsense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:2269702G>A uc003slh.1 - 3 333 c.67C>T c.(67-69)CAG>TAG p.Q23* MAD1L1_uc003slf.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksj.2_Nonsense_Mutation_p.Q23* NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 23 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TCCACACGCTGAGAGATGAAG 0.532 NaN 0 0 0 0.001168 0 6 12 AIMP2 7965 broad.mit.edu 37 7 6054965 6054965 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:6054965G>C uc003spo.2 + 2 437 c.324G>C c.(322-324)TTG>TTC p.L108F NM_006303 NP_006294 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting 108 Interaction with PARK2. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding ovary(1) 1 CGCTGGACTTGAATTCAGTGC 0.458 NaN 0 0 0 0.008291 0 11 48 DNAH11 8701 broad.mit.edu 37 7 21603941 21603941 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:21603941C>G uc003svc.2 + 6 1151 c.1120C>G c.(1120-1122)CAT>GAT p.H374D NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 374 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GATCTGGAGTCATTCCAAGTT 0.413 NaN Kartagener_syndrome 0 0 0 0.001984 0 7 41 GLI3 2737 broad.mit.edu 37 7 42187951 42187951 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:42187951C>T uc011kbh.1 - 3 332 c.241G>A c.(241-243)GAG>AAG p.E81K GLI3_uc011kbg.1_Missense_Mutation_p.E22K NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 81 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GAGGCCCTCTCGTCACTCGAT 0.552 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.001168 0 6 36 PKD1L1 168507 broad.mit.edu 37 7 47876633 47876633 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:47876633G>A uc003tny.1 - 37 5829 c.5829C>T c.(5827-5829)TAC>TAT p.Y1943Y NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1943 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGGGCCTGCTGTACACCGACA 0.577 NaN 0 0 0 0.009096 0 3 43 ZNF273 10793 broad.mit.edu 37 7 64363703 64363703 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:64363703C>T uc003tto.2 + 1 84 c.8C>T c.(7-9)TCT>TTT p.S3F ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) TCTATGTCCTCTGCTCCTAGA 0.592 NaN 0 0 0 0.013537 0 13 37 DNAJC30 84277 broad.mit.edu 37 7 73097498 73097498 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:73097498C>T uc003tys.1 - 1 284 c.256G>A c.(256-258)GAG>AAG p.E86K WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank NM_032317 NP_115693 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog subfamily C member 30 86 J. protein folding heat shock protein binding|unfolded protein binding 0 TCGGCGGCCTCCGCGCTCCCG 0.662 NaN 0 0 0 0.008871 0 20 70 PCLO 27445 broad.mit.edu 37 7 82544005 82544005 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:82544005C>G uc003uhx.2 - 7 13586 c.13297G>C c.(13297-13299)GAA>CAA p.E4433Q PCLO_uc003uhv.2_Missense_Mutation_p.E4433Q|PCLO_uc010lec.2_Missense_Mutation_p.E1398Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4364 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AATTTACCTTCACTGTCTGAC 0.418 NaN 0 0 0 0.000602 0 5 20 CDK14 5218 broad.mit.edu 37 7 90741917 90741917 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:90741917G>C uc003uky.2 + 13 1437 c.1215G>C c.(1213-1215)AAG>AAC p.K405N CDK14_uc003ukz.1_Missense_Mutation_p.K387N|CDK14_uc010les.1_Missense_Mutation_p.K359N|CDK14_uc011khl.1_Missense_Mutation_p.K276N NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 405 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 GTTCCCCAAAGAACAGACTGT 0.502 NaN 0 0 0 0.009096 0 4 112 PTCD1 26024 broad.mit.edu 37 7 99057790 99057790 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:99057790C>G uc011kiw.1 - 2 84 c.40G>C c.(40-42)GAG>CAG p.E14Q ATP5J2_uc003uql.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqm.2_Missense_Mutation_p.E20Q|ATP5J2_uc003uqn.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqo.2_Missense_Mutation_p.E20Q NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 Error:Variant_position_missing_in_O75127_after_alignment ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AGTTTGACCTCCAGAAGTTTC 0.483 NaN 0 0 0 0.009535 0 30 157 RELN 5649 broad.mit.edu 37 7 103322663 103322663 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:103322663C>T uc003vca.2 - 11 1349 c.1189G>A c.(1189-1191)GAA>AAA p.E397K RELN_uc010liz.2_Missense_Mutation_p.E397K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 397 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCGCTGCCTTCATTTCCATGG 0.458 NaN 0 0 0 0.001984 0 4 88 SLC26A3 1811 broad.mit.edu 37 7 107408296 107408296 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:107408296G>A uc003ver.2 - 19 2331 c.2120C>T c.(2119-2121)TCA>TTA p.S707L SLC26A3_uc003ves.2_Missense_Mutation_p.S594L NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 707 Helical; (Potential).|STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 GAAAAATATTGAGCTTTTCAC 0.323 NaN 0 0 0 0.00308 0 8 26 PPP1R3A 5506 broad.mit.edu 37 7 113558970 113558970 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:113558970C>T uc010ljy.1 - 1 113 c.82G>A c.(82-84)GAT>AAT p.D28N NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 28 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 ACTTCTTCATCTTCACAAAGA 0.398 NaN 0 0 0 0.014323 0 21 56 TES 26136 broad.mit.edu 37 7 115890320 115890320 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:115890320G>A uc003vho.2 + 4 653 c.472G>A c.(472-474)GAC>AAC p.D158N TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.D149N|uc003vhq.1_5'Flank NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 158 PET. 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) CCCTGCACATGACCAGGACCC 0.532 NaN 0 0 0 0.004482 0 9 53 TAS2R16 50833 broad.mit.edu 37 7 122635437 122635437 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:122635437G>A uc003vkl.1 - 1 318 c.252C>T c.(250-252)ACC>ACT p.T84T NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 84 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 AAAATTCCCAGGTGATTGTTA 0.398 NaN 0 0 0 0.001984 0 7 30 NRF1 4899 broad.mit.edu 37 7 129394931 129394931 + Silent SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:129394931G>A uc003voz.2 + 11 1539 c.1422G>A c.(1420-1422)CAG>CAA p.Q474Q NRF1_uc003vpa.2_Silent_p.Q493Q|NRF1_uc011kpa.1_Silent_p.Q313Q|NRF1_uc003vpb.2_Silent_p.Q474Q NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 474 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GACCAGTGCAGGTGGCCATGG 0.592 NaN 0 0 0 0.006214 0 10 42 CLCN1 1180 broad.mit.edu 37 7 143039095 143039095 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:143039095G>C uc003wcr.1 + 15 1743 c.1656G>C c.(1654-1656)CAG>CAC p.Q552H CLCN1_uc011ktc.1_Missense_Mutation_p.Q164H NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 552 Q -> R (in THD, MCR and in myotonia levior). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TAACGGGTCAGATTGCTCACA 0.532 NaN 0 0 0 0.00333 0 23 45 SGK223 157285 broad.mit.edu 37 8 8175696 8175697 + Nonsense_Mutation DNP TC TC AT TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:8175696_8175697TC>AT uc003wsh.3 - 5 4188_4189 c.4188_4189GA>AT c.(4186-4191)CTGAAG>CTATAG p.K1397* NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1397 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TGCAGGAGCTTCAGCGACTGTA 0.658 NaN 0 0 0 0.004672 0 8 29 SLC7A2 6542 broad.mit.edu 37 8 17401171 17401171 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:17401171G>C uc011kyc.1 + 2 492 c.323G>C c.(322-324)GGA>GCA p.G108A SLC7A2_uc011kyd.1_Missense_Mutation_p.G148A|SLC7A2_uc011kye.1_Missense_Mutation_p.G148A|SLC7A2_uc011kyf.1_Missense_Mutation_p.G108A NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 108 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GTGACTGTCGGAGAGCTGTGG 0.493 NaN 0 0 0 0.008871 0 18 28 KCNU1 157855 broad.mit.edu 37 8 36642013 36642013 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:36642013C>T uc010lvw.2 + 1 172 c.85C>T c.(85-87)CTC>TTC p.L29F KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 29 Helical; Name=Segment S0; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AGCATTCATTCTCTCTTCCTT 0.423 NaN 0 0 0 0.000602 0 5 37 RAB11FIP1 80223 broad.mit.edu 37 8 37729403 37729403 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:37729403C>G uc003xkm.1 - 4 2961 c.2917G>C c.(2917-2919)GAT>CAT p.D973H RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xko.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 973 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCAACCTGATCTATTCTTTCA 0.458 NaN 0 0 0 0.006214 0 10 67 RAB11FIP1 80223 broad.mit.edu 37 8 37729766 37729766 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:37729766C>G uc003xkm.1 - 4 2598 c.2554G>C c.(2554-2556)GAG>CAG p.E852Q RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 852 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCAGGAGGCTCTCCGTCAGAC 0.637 NaN 0 0 0 0.006214 0 7 40 RAB11FIP1 80223 broad.mit.edu 37 8 37730228 37730228 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:37730228C>G uc003xkm.1 - 4 2136 c.2092G>C c.(2092-2094)GAA>CAA p.E698Q RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 698 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CGCCCTGTTTCAGGCTGCTCT 0.527 NaN 0 0 0 0.010729 0 11 43 ADAM2 2515 broad.mit.edu 37 8 39613416 39613416 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:39613416C>G uc003xnj.2 - 16 1703 c.1628G>C c.(1627-1629)GGA>GCA p.G543A ADAM2_uc003xnk.2_Missense_Mutation_p.G524A|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 543 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TATTAATTTTCCGCACTGCAG 0.244 NaN 0 0 0 0.00308 0 8 54 RUNX1T1 862 broad.mit.edu 37 8 92972521 92972521 + Silent SNP C C T rs144186445 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:92972521C>T uc003yfd.2 - 11 1848 c.1764G>A c.(1762-1764)CCG>CCA p.P588P RUNX1T1_uc003yfc.1_Silent_p.P561P|RUNX1T1_uc003yfe.1_Silent_p.P551P|RUNX1T1_uc010mao.2_Silent_p.P561P|RUNX1T1_uc011lgi.1_Silent_p.P599P|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.P213P|RUNX1T1_uc003yfb.1_Silent_p.P551P NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 588 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGGTTGACCTCGGAGTGGCTG 0.612 NaN 0 0 0 0.009096 0 4 12 FBXO43 286151 broad.mit.edu 37 8 101149855 101149855 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:101149855G>C uc003yjd.2 - 3 2325 c.1612C>G c.(1612-1614)CAA>GAA p.Q538E FBXO43_uc003yje.2_Missense_Mutation_p.Q504E|FBXO43_uc010mbp.1_Missense_Mutation_p.Q538E NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 538 F-box. meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TTTTTATCTTGAACAACAATT 0.299 NaN 0 0 0 0.004007 0 15 28 ABRA 137735 broad.mit.edu 37 8 107782327 107782327 + Missense_Mutation SNP C C G rs148182297 TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:107782327C>G uc003ymm.3 - 1 146 c.92G>C c.(91-93)CGA>CCA p.R31P NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 31 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CTGCCAACCTCGGGCCAAGCT 0.647 NaN 0 0 0 0.008291 0 8 83 ZNF696 79943 broad.mit.edu 37 8 144377992 144377992 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr8:144377992C>A uc003yxy.3 + 3 556 c.147C>A c.(145-147)GCC>GCA p.A49A NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CGGAGCCTGCCGCAGAGGCAG 0.672 NaN 1 0 0.004672 0.004672 0.00485041 2 3 IFNA7 3444 broad.mit.edu 37 9 21202054 21202054 + Silent SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:21202054G>C uc003zop.1 - 1 151 c.111C>G c.(109-111)GCC>GCG p.A37A IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 37 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAGTATCAAGGCCCTCCTAT 0.502 NaN 0 0 0 0.00333 0 22 121 MURC 347273 broad.mit.edu 37 9 103348453 103348453 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:103348453G>A uc004bba.2 + 2 905 c.815G>A c.(814-816)CGC>CAC p.R272H NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 272 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) TTTAAGATGCGCAGCCTCAGG 0.537 NaN 0 0 0 0.00632 0 25 104 PPP3R2 5535 broad.mit.edu 37 9 104357001 104357001 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:104357001C>G uc004bbr.2 - 1 283 c.212G>C c.(211-213)GGA>GCA p.G71A GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 68 EF-hand 2.|2. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GTCCACTTCTCCATCACCGTC 0.577 NaN 0 0 0 0.00245 0 15 86 CEP110 11064 broad.mit.edu 37 9 123932082 123932082 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:123932082G>C uc004bkx.1 + 37 6295 c.6264G>C c.(6262-6264)GAG>GAC p.E2088D CEP110_uc004blb.1_Missense_Mutation_p.E757D|CEP110_uc010mvp.1_Missense_Mutation_p.E38D NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 2088 Required for centrosome localization.|Sufficient for interaction with HOOK2.|Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 GCCAGCTGGAGAAAAACCTTC 0.443 NaN 0 0 0 0.004672 0 3 81 OR1J2 26740 broad.mit.edu 37 9 125273495 125273495 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:125273495G>C uc004bmj.1 + 4 1270 c.415G>C c.(415-417)GAG>CAG p.E139Q OR1J2_uc011lyv.1_Missense_Mutation_p.E139Q NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 CATGAGGGAAGAGCTCTGTGT 0.478 NaN 0 0 0 0.00308 0 8 51 GOLGA1 2800 broad.mit.edu 37 9 127693663 127693663 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:127693663C>G uc004bpc.2 - 4 500 c.158G>C c.(157-159)AGA>ACA p.R53T GOLGA1_uc010mwt.1_Missense_Mutation_p.R53T NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 53 Potential. Golgi cisterna membrane ovary(1) 1 AAGATCTTCTCTGGAGCTGCT 0.433 NaN 0 0 0 0.010504 0 19 87 SCAI 286205 broad.mit.edu 37 9 127734000 127734000 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:127734000C>T uc004bpe.2 - 16 1604 c.1523G>A c.(1522-1524)CGA>CAA p.R508Q SCAI_uc004bpd.2_Missense_Mutation_p.R531Q|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 508 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 GTTGATTTTTCGAAGATATTC 0.408 NaN 0 0 0 0.003954 0 24 96 SPTAN1 6709 broad.mit.edu 37 9 131388736 131388736 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:131388736G>A uc004bvl.3 + 48 6444 c.6331G>A c.(6331-6333)GAG>AAG p.E2111K SPTAN1_uc004bvm.3_Missense_Mutation_p.E2116K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2091K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2111 Spectrin 22. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAAAATGCAGAGGAGGACTT 0.567 NaN 0 0 0 0.00499 0 18 137 CARD9 64170 broad.mit.edu 37 9 139266398 139266398 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:139266398C>T uc004chg.3 - 2 299 c.133G>A c.(133-135)GAG>AAG p.E45K CARD9_uc011mdw.1_Missense_Mutation_p.E45K|CARD9_uc011mdx.1_5'UTR|CARD9_uc010nbj.2_Missense_Mutation_p.E45K NM_052813 NP_434700 Q9H257 CARD9_HUMAN caspase recruitment domain protein 9 isoform 1 45 CARD. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity pancreas(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) ACCTGCTCCTCATCATCGGGG 0.637 NaN 0 0 0 0.00632 0 30 161 C9orf172 389813 broad.mit.edu 37 9 139741083 139741083 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr9:139741083C>T uc011meh.1 + 1 2217 c.2217C>T c.(2215-2217)ATC>ATT p.I739I PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 739 0 TCTCGCGCATCGCGCGTGTCG 0.706 NaN 0 0 0 0.004482 0 9 9 PHEX 5251 broad.mit.edu 37 X 22056609 22056609 + Silent SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:22056609C>T uc004dah.2 + 2 344 c.141C>T c.(139-141)CTC>CTT p.L47L PHEX_uc011mjr.1_Silent_p.L47L|PHEX_uc011mjs.1_5'UTR NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 47 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TCTTAAGTCTCCAAGCTAAAC 0.453 NaN 0 0 0 0.007835 0 40 176 PTCHD1 139411 broad.mit.edu 37 X 23412194 23412194 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:23412194G>C uc004dal.3 + 3 2567 c.2559G>C c.(2557-2559)AAG>AAC p.K853N NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 853 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CACCCTCTAAGAAAAAAAGGA 0.403 NaN 0 0 0 0.00623 0 38 78 FAM47C 442444 broad.mit.edu 37 X 37029100 37029100 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:37029100G>C uc004ddl.1 + 1 2631 c.2617G>C c.(2617-2619)GAC>CAC p.D873H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 873 ovary(3) 3 CAGTCTGTTTGACTTTACCCC 0.458 NaN 0 0 0 0.004482 0 8 133 RPGR 6103 broad.mit.edu 37 X 38150241 38150241 + Missense_Mutation SNP A A C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:38150241A>C uc004ded.1 - 13 1711 c.1543T>G c.(1543-1545)TTA>GTA p.L515V RPGR_uc004deb.2_Missense_Mutation_p.L515V|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 515 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GATAATTTTAATGACTTTTCA 0.229 NaN 0 0 0 0.001984 0 6 30 PHF16 9767 broad.mit.edu 37 X 46884244 46884244 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:46884244G>C uc004dgx.2 + 5 454 c.403G>C c.(403-405)GTT>CTT p.V135L PHF16_uc004dgy.2_Missense_Mutation_p.V135L NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 135 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 GGCAGCATCTGTTTGCCGCTA 0.468 NaN 0 0 0 0.007413 0 18 52 RRAGB 10325 broad.mit.edu 37 X 55755751 55755751 + Missense_Mutation SNP G G T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:55755751G>T uc004dup.2 + 5 986 c.335G>T c.(334-336)CGA>CTA p.R112L RRAGB_uc004duq.2_Missense_Mutation_p.R84L NM_016656 NP_057740 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B long isoform 112 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding 0 TCTCATGTTCGATTTCTGGGA 0.388 NaN 1 0 1.22574e-08 0.014323 1.31653e-08 22 62 GDPD2 54857 broad.mit.edu 37 X 69646848 69646848 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:69646848G>A uc004dyh.2 + 8 940 c.689G>A c.(688-690)CGA>CAA p.R230Q GDPD2_uc010nkx.1_Missense_Mutation_p.R230Q|GDPD2_uc010nky.1_Missense_Mutation_p.R16Q|GDPD2_uc011mpk.1_Missense_Mutation_p.R230Q|GDPD2_uc011mpl.1_Missense_Mutation_p.R151Q|GDPD2_uc011mpm.1_Missense_Mutation_p.R151Q NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 230 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) GTGGGACACCGAGGGGCCCCC 0.612 NaN 0 0 0 0.001984 0 7 34 FOXO4 4303 broad.mit.edu 37 X 70321316 70321316 + Silent SNP C C A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:70321316C>A uc004dys.1 + 2 1589 c.1236C>A c.(1234-1236)GTC>GTA p.V412V FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.V357V NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 412 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) CCACGGGCGTCGGCCTGTGTC 0.617 NaN 1 0 0.00116845 0.001168 0.00121888 6 29 MED12 9968 broad.mit.edu 37 X 70338701 70338701 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:70338701G>A uc004dyy.2 + 1 296 c.97G>A c.(97-99)GAG>AAG p.E33K MED12_uc011mpq.1_Missense_Mutation_p.E33K|MED12_uc004dyz.2_Missense_Mutation_p.E33K|MED12_uc004dza.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 33 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CAAACAGAAGGAGGTGCGTTC 0.677 NaN 0 0 0 0.001168 0 5 9 GPRASP2 114928 broad.mit.edu 37 X 101970821 101970821 + Missense_Mutation SNP C C T TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:101970821C>T uc004ejk.2 + 4 2358 c.1024C>T c.(1024-1026)CCT>TCT p.P342S GPRASP2_uc004ejl.2_Missense_Mutation_p.P342S|GPRASP2_uc004ejm.2_Missense_Mutation_p.P342S|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 342 cytoplasm protein binding ovary(1) 1 CTGGGTTTTGCCTGGAGAAGA 0.448 NaN 0 0 0 0.009096 0 4 116 IL1RAPL2 26280 broad.mit.edu 37 X 105011463 105011463 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:105011463G>C uc004elz.1 + 11 2626 c.1870G>C c.(1870-1872)GAG>CAG p.E624Q NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 624 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TTATAAACATGAGATACCAGC 0.478 NaN 0 0 0 0.004482 0 9 118 RBMX2 51634 broad.mit.edu 37 X 129545341 129545341 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:129545341G>A uc004evt.2 + 5 387 c.323G>A c.(322-324)CGA>CAA p.R108Q NM_016024 NP_057108 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 108 RRM. nucleotide binding|RNA binding breast(3)|ovary(1) 4 AGAACTATCCGAGTGGATCAT 0.478 NaN 0 0 0 0.00308 0 8 89 GPR50 9248 broad.mit.edu 37 X 150349383 150349383 + Missense_Mutation SNP C C G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:150349383C>G uc010ntg.1 + 2 1463 c.1328C>G c.(1327-1329)TCT>TGT p.S443C NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 443 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AAGCCTGCCTCTGTCCATTTC 0.557 NaN 0 0 0 0.00308 0 8 371 PNMA5 114824 broad.mit.edu 37 X 152159943 152159943 + Missense_Mutation SNP A A G TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chrX:152159943A>G uc010ntw.2 - 3 539 c.200T>C c.(199-201)ATT>ACT p.I67T PNMA5_uc004fha.3_Missense_Mutation_p.I67T|PNMA5_uc010ntx.2_Missense_Mutation_p.I67T|PNMA5_uc004fgy.3_Missense_Mutation_p.I67T NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 67 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) agccagttcaatgaagactgc 0 NaN 0 0 0 0.00632 0 29 117 SPAG17 200162 broad.mit.edu 37 1 118640369 118640379 + Frame_Shift_Del DEL AGATTTGTTTC AGATTTGTTTC - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr1:118640369_118640379delAGATTTGTTTC uc001ehk.2 - 7 993_1003 c.925_935delGAAACAAATCT c.(925-936)GAAACAAATCTCfs p.E309fs NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 309_312 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AACATCAAAGAGATTTGTTTCAGGTTTCTCA 0.374 NaN NaN NaN NaN NaN NaN 17 37 --- --- ZCCHC8 55596 broad.mit.edu 37 12 122958340 122958340 + Frame_Shift_Del DEL C C - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr12:122958340delC uc001ucn.2 - 14 1959 c.1828delG c.(1828-1830)GAAfs p.E610fs ZCCHC8_uc001ucl.2_Frame_Shift_Del_p.E221fs|ZCCHC8_uc001ucm.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxp.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxq.2_Frame_Shift_Del_p.E372fs NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 610 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TCTGCTTTTTCCTTCTGACAA 0.493 NaN NaN NaN NaN NaN NaN 7 262 --- --- ARHGAP27 201176 broad.mit.edu 37 17 43473589 43473589 + Frame_Shift_Del DEL G G - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr17:43473589delG uc002iix.2 - 14 1661 c.1212delC c.(1210-1212)CGCfs p.R404fs ARHGAP27_uc010dak.2_Frame_Shift_Del_p.R377fs NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 isoform a 745 Rho-GAP. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding 0 Renal(3;0.0405) CCACCTTATAGCGTAGCTTCT 0.647 NaN NaN NaN NaN NaN NaN 32 57 --- --- TSSC1 7260 broad.mit.edu 37 2 3197914 3197915 + In_Frame_Ins INS - - CAT TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:3197914_3197915insCAT uc002qxj.2 - 7 869_870 c.676_677insATG c.(676-678)GCC>GATGCC p.225_226insD TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 225_226 WD 3. protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) CTGTCCGTGGGCATTCTCTATG 0.515 NaN NaN NaN NaN NaN NaN 35 96 --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr2:98427639delT uc002syh.3 - 18 2149 c.1920delA c.(1918-1920)AAAfs p.K640fs NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 640 integral to membrane ovary(4)|central_nervous_system(2) 6 TCCCCTCTAATTTTTTTGCAG 0.393 NaN NaN NaN NaN NaN NaN 8 261 --- --- VGLL4 9686 broad.mit.edu 37 3 11744444 11744444 + Splice_Site DEL C C - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr3:11744444delC uc003bwf.2 - 2 430 c.64_splice c.e2+1 p.R22_splice VGLL4_uc003bwg.2_Splice_Site NM_014667 NP_055482 Q14135 VGLL4_HUMAN vestigial like 4 isoform b regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) TCCTCACTTACGTTTTTCGTC 0.418 NaN NaN NaN NaN NaN NaN 13 16 --- --- HOXA1 3198 broad.mit.edu 37 7 27135004 27135010 + Frame_Shift_Del DEL ATACGTA ATACGTA - TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9bbbfc3-0beb-4f91-92a1-081bff7c4a07 2c9954e9-6225-4fe3-b749-4812dd7cbe26 g.chr7:27135004_27135010delATACGTA uc003sye.2 - 1 616_622 c.522_528delTACGTAT c.(520-528)GCTACGTATfs p.A174fs HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 174_176 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 AGGAGTTATTATACGTAGCCAGGGCCA 0.58 NaN NaN NaN NaN NaN NaN 51 129 --- ---