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 CAMTA1 23261 broad.mit.edu 37 1 7724545 7724545 + Silent SNP G G A rs142993717 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:7724545G>A uc001aoi.2 + 9 2145 c.1938G>A c.(1936-1938)ACG>ACA p.T646T NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGATGCCCACGGTGAAAACGG 0.637 NaN 0 0 0 0.013726 0 33 161 UBR4 23352 broad.mit.edu 37 1 19497352 19497352 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:19497352C>T uc001bbi.2 - 26 3551 c.3547G>A c.(3547-3549)GAA>AAA p.E1183K UBR4_uc001bbm.1_Missense_Mutation_p.E394K NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1183 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTTCCCTCTTCATTAAAGTTT 0.453 NaN 0 0 0 0.01441 0 48 49 EIF4G3 8672 broad.mit.edu 37 1 21183933 21183933 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:21183933C>T uc001bec.2 - 20 3390 c.3134G>A c.(3133-3135)CGG>CAG p.R1045Q EIF4G3_uc010odi.1_Missense_Mutation_p.R649Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R1044Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R765Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R1045Q|EIF4G3_uc001bef.2_Missense_Mutation_p.R1081Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R1051Q NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1045 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GTCCAGTACCCGACTGTTCTT 0.463 NaN 0 0 0 0.01441 0 101 247 ARID1A 8289 broad.mit.edu 37 1 27059176 27059176 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:27059176C>G uc001bmv.1 + 4 2186 c.1813C>G c.(1813-1815)CAA>GAA p.Q605E ARID1A_uc001bmt.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmu.1_Missense_Mutation_p.Q605E|ARID1A_uc001bmw.1_Missense_Mutation_p.Q222E NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 605 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) GGAGCTATCTCAAGATTCATT 0.483 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.010729 0 12 73 C1orf94 84970 broad.mit.edu 37 1 34663196 34663196 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:34663196G>A uc001bxs.3 + 2 520 c.121G>A c.(121-123)GAC>AAC p.D41N C1orf94_uc001bxt.2_Missense_Mutation_p.D231N NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 41 protein binding 0 Myeloproliferative disorder(586;0.0393) CATCCTAGGTGACTCCAACTT 0.542 NaN 0 0 0 0.016723 0 14 35 PPIE 10450 broad.mit.edu 37 1 40214744 40214744 + Silent SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:40214744C>G uc001cds.1 + 8 721 c.678C>G c.(676-678)CTC>CTG p.L226L PPIE_uc001cdt.1_Silent_p.L160L|PPIE_uc010oiy.1_Silent_p.L147L|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Silent_p.L226L|PPIE_uc001cdw.2_Silent_p.L226L|PPIE_uc001cdx.1_Silent_p.L142L NM_006112 NP_006103 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E isoform 1 226 PPIase cyclophilin-type. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding 0 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACTTTATCCTCAAGCATACGG 0.547 NaN 0 0 0 0.008871 0 16 70 TIE1 7075 broad.mit.edu 37 1 43778257 43778257 + Missense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:43778257C>A uc001ciu.2 + 12 1991 c.1912C>A c.(1912-1914)CTT>ATT p.L638I TIE1_uc010okd.1_Missense_Mutation_p.L638I|TIE1_uc010oke.1_Missense_Mutation_p.L593I|TIE1_uc009vwq.2_Missense_Mutation_p.L594I|TIE1_uc010okf.1_Missense_Mutation_p.L283I|TIE1_uc010okg.1_Missense_Mutation_p.L283I NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 638 Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCACACGTGCTTCTGCCCCC 0.657 NaN 1 0 2.44723e-14 0.024334 2.77353e-14 24 29 MTF2 22823 broad.mit.edu 37 1 93581036 93581036 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:93581036G>A uc009wdj.2 + 6 785 c.493G>A c.(493-495)GCA>ACA p.A165T MTF2_uc001dph.2_Missense_Mutation_p.A63T|MTF2_uc010oth.1_Missense_Mutation_p.A63T|MTF2_uc009wdk.2_Missense_Mutation_p.A165T|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.A63T|MTF2_uc001dpj.3_Missense_Mutation_p.A63T|MTF2_uc001dpl.3_Missense_Mutation_p.A63T NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 165 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) GAGGGGTGGTGCACTTAAGAA 0.393 NaN 0 0 0 0.024245 0 11 33 GNAI3 2773 broad.mit.edu 37 1 110128959 110128959 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:110128959G>A uc001dxz.2 + 6 869 c.712G>A c.(712-714)GAG>AAG p.E238K NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 238 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity ovary(1) 1 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) GGCTGAGGACGAGGAGATGGT 0.413 NaN 0 0 0 0.007835 0 41 112 PIP5K1A 8394 broad.mit.edu 37 1 151171506 151171506 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:151171506G>C uc001exj.2 + 1 486 c.34G>C c.(34-36)GTC>CTC p.V12L PIP5K1A_uc001exi.2_Missense_Mutation_p.V12L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V12L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V12L NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 12 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GTCGTCTTCGGTCGGTTTTTC 0.612 NaN 0 0 0 0.010771 0 44 342 NTRK1 4914 broad.mit.edu 37 1 156844786 156844786 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:156844786A>T uc001fqh.1 + 11 1396 c.1340A>T c.(1339-1341)AAG>ATG p.K447M NTRK1_uc001fqf.1_Missense_Mutation_p.K411M|NTRK1_uc009wsi.1_Missense_Mutation_p.K146M|NTRK1_uc001fqi.1_Missense_Mutation_p.K441M|NTRK1_uc009wsk.1_Missense_Mutation_p.K441M NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 447 Cytoplasmic (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CGGAGAAACAAGTTTGGGATC 0.577 NaN T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 0 0 0 0.017118 0 36 155 FMO3 2328 broad.mit.edu 37 1 171086520 171086520 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:171086520C>T uc001ghi.2 + 9 1648 c.1537C>T c.(1537-1539)CAT>TAT p.H513Y FMO3_uc001ghh.2_Missense_Mutation_p.H513Y|FMO3_uc010pmb.1_Missense_Mutation_p.H493Y|FMO3_uc010pmc.1_Missense_Mutation_p.H450Y NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 513 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCTTTTTCCATTGGCTGAA 0.458 NaN 0 0 0 0.01441 0 62 50 TNR 7143 broad.mit.edu 37 1 175355234 175355234 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:175355234C>T uc001gkp.1 - 6 1792 c.1711G>A c.(1711-1713)GAG>AAG p.E571K TNR_uc009wwu.1_Missense_Mutation_p.E571K NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 571 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACTGACACCTCGTATCGGGAG 0.637 NaN 0 0 0 0.016723 0 14 206 SEC16B 89866 broad.mit.edu 37 1 177927476 177927476 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:177927476C>T uc001gli.1 - 10 1246 c.1156G>A c.(1156-1158)GCT>ACT p.A386T SEC16B_uc001glk.1_Missense_Mutation_p.A63T|SEC16B_uc001glh.1_Missense_Mutation_p.A45T|SEC16B_uc009wwz.1_Missense_Mutation_p.A45T|SEC16B_uc001glj.1_Missense_Mutation_p.A387T|SEC16B_uc001gll.3_Missense_Mutation_p.A387T NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 386 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 AGCAGCTCAGCGATGTCAGAC 0.572 NaN 0 0 0 0.004482 0 9 100 LAMC1 3915 broad.mit.edu 37 1 183087279 183087279 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:183087279G>C uc001gpy.3 + 11 2245 c.1988G>C c.(1987-1989)AGA>ACA p.R663T NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 663 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACAGTGAGAGAAGTAAGTTA 0.353 NaN 0 0 0 0.008291 0 11 41 PLXNA2 5362 broad.mit.edu 37 1 208234158 208234158 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:208234158C>A uc001hgz.2 - 13 3369 c.2611G>T c.(2611-2613)GAA>TAA p.E871* NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 871 Extracellular (Potential).|IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GTCCCTCCTTCCGGCGGTCCA 0.602 NaN 1 0 0.00887093 0.008871 0.00911464 18 29 RGS7 6000 broad.mit.edu 37 1 240966262 240966262 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:240966262G>A uc001hyv.2 - 16 1631 c.1301C>T c.(1300-1302)TCA>TTA p.S434L RGS7_uc010pyh.1_Missense_Mutation_p.S408L|RGS7_uc010pyj.1_Missense_Mutation_p.S350L|RGS7_uc001hyu.2_Missense_Mutation_p.S434L|RGS7_uc009xgn.1_Missense_Mutation_p.S381L|RGS7_uc001hyw.2_Missense_Mutation_p.S434L|RGS7_uc001hyt.2_Missense_Mutation_p.S266L NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 434 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ACGTGGGTATGAATCACTTTT 0.358 NaN 0 0 0 0.016522 0 23 94 OR14C36 127066 broad.mit.edu 37 1 248512486 248512486 + Missense_Mutation SNP G G C rs142744958 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:248512486G>C uc010pzl.1 + 1 410 c.410G>C c.(409-411)CGA>CCA p.R137P NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTGAACTCTCGAATCTGCATC 0.512 NaN 0 0 0 0.016723 0 12 102 OR2T3 343173 broad.mit.edu 37 1 248637272 248637272 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr1:248637272C>T uc001iel.1 + 1 621 c.621C>T c.(619-621)TGC>TGT p.C207C NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTACCTGTGCTGCATCCTCA 0.537 NaN 0 0 0 0.01441 0 276 140 KIAA1274 27143 broad.mit.edu 37 10 72300920 72300920 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr10:72300920C>T uc001jrd.3 + 16 2252 c.1971C>T c.(1969-1971)TTC>TTT p.F657F KIAA1274_uc001jre.3_5'UTR NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 657 ovary(2)|central_nervous_system(1) 3 GCACTGGCTTCGTGTTCAGCT 0.632 NaN 0 0 0 0.013537 0 13 49 OR52B2 255725 broad.mit.edu 37 11 6191265 6191265 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:6191265C>T uc010qzy.1 - 1 292 c.292G>A c.(292-294)GCC>ACC p.A98T NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGACACAGGCATCAAAAGCA 0.517 NaN 0 0 0 0.006122 0 18 71 FAM160A2 84067 broad.mit.edu 37 11 6243787 6243787 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:6243787C>T uc001mcl.3 - 6 1435 c.1076G>A c.(1075-1077)CGG>CAG p.R359Q FAM160A2_uc001mck.3_Missense_Mutation_p.R359Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R359Q NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 359 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 TGAGATACTCCGTAGGAAAAG 0.527 NaN 0 0 0 0.010504 0 17 37 KCNA4 3739 broad.mit.edu 37 11 30033452 30033452 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:30033452G>C uc001msk.2 - 2 1926 c.774C>G c.(772-774)TTC>TTG p.F258L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 258 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCAACTGATAGAACTTCACCT 0.507 NaN 0 0 0 0.012319 0 19 59 ESRRA 2101 broad.mit.edu 37 11 64082320 64082320 + Missense_Mutation SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64082320A>G uc001nzq.1 + 5 856 c.679A>G c.(679-681)ACC>GCC p.T227A ESRRA_uc001nzr.1_Missense_Mutation_p.T226A|ESRRA_uc001nzs.1_Missense_Mutation_p.T227A|ESRRA_uc009ypn.1_Intron NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 227 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 AGCCGTGGCTACCCTCTGTGA 0.612 NaN 0 0 0 0.013537 0 12 21 TM7SF2 7108 broad.mit.edu 37 11 64882277 64882277 + Silent SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64882277C>G uc001oct.2 + 6 843 c.696C>G c.(694-696)CTC>CTG p.L232L TM7SF2_uc010rny.1_Silent_p.L116L|TM7SF2_uc001ocu.2_Silent_p.L232L|TM7SF2_uc001ocv.2_Silent_p.L253L|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 232 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 TCCAGTTGCTCTACGTGGGTG 0.607 NaN 0 0 0 0.010729 0 10 66 ZNHIT2 741 broad.mit.edu 37 11 64884048 64884048 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64884048C>T uc001ocw.2 - 1 1123 c.1078G>A c.(1078-1080)GAC>AAC p.D360N uc009yqb.1_5'UTR NM_014205 NP_055020 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT domain containing 2 360 metal ion binding breast(1) 1 CTGGCGCAGTCTAGGGCCAGG 0.647 NaN 0 0 0 0.020292 0 15 64 ZNHIT2 741 broad.mit.edu 37 11 64884237 64884237 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:64884237C>A uc001ocw.2 - 1 934 c.889G>T c.(889-891)GAG>TAG p.E297* uc009yqb.1_Silent_p.L36L NM_014205 NP_055020 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT domain containing 2 297 metal ion binding breast(1) 1 GTCGGGCCCTCGCCCAGCAGG 0.711 NaN 1 0 1.5842e-08 0.016723 1.70256e-08 13 44 CEP164 22897 broad.mit.edu 37 11 117266864 117266864 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:117266864C>T uc001prc.2 + 25 3331 c.3184C>T c.(3184-3186)CAT>TAT p.H1062Y CEP164_uc001prb.2_Missense_Mutation_p.H1065Y|CEP164_uc010rxk.1_Missense_Mutation_p.H1036Y|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.H495Y NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1062 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCCAGATCTCCATATTGAGGA 0.572 NaN 0 0 0 0.008361 0 29 110 IL10RA 3587 broad.mit.edu 37 11 117864081 117864081 + Nonsense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:117864081C>T uc001prv.2 + 4 570 c.493C>T c.(493-495)CGA>TGA p.R165* IL10RA_uc010rxl.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxm.1_Nonsense_Mutation_p.R145*|IL10RA_uc010rxn.1_Nonsense_Mutation_p.R16*|IL10RA_uc001prw.2_Nonsense_Mutation_p.R16* NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 165 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CAGTCACTTCCGAGAGTATGA 0.557 NaN 0 0 0 0.013537 0 13 56 OR10S1 219873 broad.mit.edu 37 11 123848028 123848028 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:123848028G>A uc001pzm.1 - 1 371 c.371C>T c.(370-372)ACT>ATT p.T124I NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 124 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GAAGCACTCAGTGCTGGCCAG 0.542 NaN 0 0 0 0.004482 0 8 23 EPS8 2059 broad.mit.edu 37 12 15807190 15807190 + Nonsense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:15807190G>T uc009zif.2 - 13 1233 c.1139C>A c.(1138-1140)TCA>TAA p.S380* EPS8_uc001rdb.2_Nonsense_Mutation_p.S380*|EPS8_uc009zig.2_Nonsense_Mutation_p.S120*|EPS8_uc010shv.1_Nonsense_Mutation_p.S120* NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 380 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) ACTAAGTACTGAACTGGCTAG 0.383 NaN 1 0 2.61681e-11 0.020292 2.86166e-11 15 68 ARID2 196528 broad.mit.edu 37 12 46243818 46243818 + Splice_Site SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:46243818G>A uc001ros.1 + 15 1913 c.1913_splice c.e15-1 p.G638_splice ARID2_uc001ror.2_Splice_Site_p.G638_splice|ARID2_uc009zkg.1_Splice_Site_p.G94_splice|ARID2_uc009zkh.1_Splice_Site_p.G265_splice|ARID2_uc001rou.1_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATATTTTCAGGAATCCCTCA 0.333 NaN 0 0 0 0.010818 0 33 53 SLC38A2 54407 broad.mit.edu 37 12 46765027 46765027 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:46765027C>T uc001rpg.2 - 2 490 c.50G>A c.(49-51)AGC>AAC p.S17N SLC38A2_uc001rph.2_5'UTR NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 17 Cytoplasmic (Potential).|Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) GTAGCTGCTGCTGTCTTCATC 0.512 NaN 0 0 0 0.015359 0 33 121 KRT73 319101 broad.mit.edu 37 12 53012246 53012246 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:53012246G>A uc001sas.2 - 1 98 c.63C>T c.(61-63)TCC>TCT p.S21S NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 21 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) AGAGCACAGCGGAGCAGCCGC 0.642 NaN 0 0 0 0.009535 0 26 52 HOXC8 3224 broad.mit.edu 37 12 54405067 54405067 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:54405067G>A uc001ser.2 + 2 810 c.631G>A c.(631-633)GAT>AAT p.D211N NM_022658 NP_073149 P31273 HXC8_HUMAN homeobox C8 211 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAACAACAAGGATAAACTGCC 0.343 NaN 0 0 0 0.00499 0 17 49 NEUROD4 58158 broad.mit.edu 37 12 55420612 55420612 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:55420612G>C uc001sgp.3 + 2 767 c.389G>C c.(388-390)AGA>ACA p.R130T NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 130 Helix-loop-helix motif. amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 GAGACTCTTAGACTGGCCAGG 0.502 NaN 0 0 0 0.00499 0 16 67 DGKA 1606 broad.mit.edu 37 12 56334764 56334764 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:56334764G>A uc001sij.2 + 13 1365 c.1101G>A c.(1099-1101)CGG>CGA p.R367R DGKA_uc001sih.1_Silent_p.R255R|DGKA_uc001sii.1_Silent_p.R225R|DGKA_uc009zod.1_Silent_p.R286R|DGKA_uc001sik.2_Silent_p.R367R|DGKA_uc001sil.2_Silent_p.R367R|DGKA_uc001sim.2_Silent_p.R367R|DGKA_uc001sin.2_Silent_p.R367R|DGKA_uc009zof.2_Silent_p.R13R|DGKA_uc001sio.2_Silent_p.R109R NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 367 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) AGGCTCTGCGGGTACAGGGCT 0.542 NaN 0 0 0 0.001984 0 7 27 ERP29 10961 broad.mit.edu 37 12 112451286 112451286 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:112451286C>T uc001ttk.1 + 1 135 c.17C>T c.(16-18)CCC>CTC p.P6L ERP29_uc001ttl.1_Missense_Mutation_p.P6L|TMEM116_uc001ttc.1_5'Flank|TMEM116_uc001ttd.1_5'Flank|TMEM116_uc001tte.1_5'Flank|TMEM116_uc001ttf.1_5'Flank|TMEM116_uc001ttg.1_5'Flank|TMEM116_uc001tth.1_5'Flank|TMEM116_uc001tti.1_5'Flank|TMEM116_uc001ttj.1_5'Flank NM_006817 NP_006808 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 isoform 1 6 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity 0 GCCGCTGTGCCCCGCGCCGCA 0.682 NaN 0 0 0 0.020292 0 14 58 NCOR2 9612 broad.mit.edu 37 12 124820110 124820110 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:124820110T>C uc010tay.1 - 41 6370 c.6214A>G c.(6214-6216)ACC>GCC p.T2072A NCOR2_uc010taz.1_Missense_Mutation_p.T2056A|NCOR2_uc010tax.1_Missense_Mutation_p.T183A NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2073 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTGTCGTGGGTCAGACTGGGT 0.677 NaN 0 0 0 0.014758 0 4 21 PIWIL1 9271 broad.mit.edu 37 12 130840202 130840202 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:130840202G>A uc001uik.2 + 12 1484 c.1394G>A c.(1393-1395)GGT>GAT p.G465D PIWIL1_uc001uij.1_Missense_Mutation_p.G465D NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 465 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATTCACCAAGGTGGAAAAACA 0.249 NaN 0 0 0 0.006214 0 10 106 GPR133 283383 broad.mit.edu 37 12 131593323 131593323 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr12:131593323G>A uc001uit.3 + 18 2501 c.1942G>A c.(1942-1944)GCA>ACA p.A648T GPR133_uc010tbm.1_Missense_Mutation_p.A680T|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.A167T|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 648 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGTGCCTTCGCATGGATGCT 0.517 NaN 0 0 0 0.013726 0 31 145 SPG20 23111 broad.mit.edu 37 13 36909198 36909198 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr13:36909198G>C uc001uvn.2 - 3 1040 c.770C>G c.(769-771)TCT>TGT p.S257C SPG20_uc010ten.1_Missense_Mutation_p.S257C|SPG20_uc001uvm.2_Missense_Mutation_p.S257C|SPG20_uc001uvo.2_Missense_Mutation_p.S257C|SPG20_uc001uvq.2_Missense_Mutation_p.S257C|SPG20_uc001uvp.2_Missense_Mutation_p.S257C NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 257 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CGTATCGAGAGAATTATCCAA 0.388 NaN 0 0 0 0.017118 0 31 98 PRMT5 10419 broad.mit.edu 37 14 23393862 23393862 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:23393862G>C uc001whm.1 - 9 1087 c.996C>G c.(994-996)ATC>ATG p.I332M PRMT5_uc001whl.1_Missense_Mutation_p.I315M|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.I226M|PRMT5_uc010tng.1_Missense_Mutation_p.I271M|PRMT5_uc010tnh.1_Missense_Mutation_p.I288M|PRMT5_uc001whn.1_Missense_Mutation_p.I161M NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 332 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GAGAGTATTTGATGGGGTCCT 0.478 NaN 0 0 0 0.021553 0 6 52 YLPM1 56252 broad.mit.edu 37 14 75265975 75265975 + Silent SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:75265975A>G uc001xqj.3 + 5 4099 c.3975A>G c.(3973-3975)GAA>GAG p.E1325E YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1130 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGTTTCGTGAACGGGATATTC 0.443 NaN 0 0 0 0.006122 0 19 64 SERPINA12 145264 broad.mit.edu 37 14 94964104 94964104 + Missense_Mutation SNP G G C rs61757459 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:94964104G>C uc001ydj.2 - 3 1427 c.631C>G c.(631-633)CGA>GGA p.R211G NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 211 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) GCCTTACCTCGAAAGAAAATA 0.219 NaN 0 0 0 0.010504 0 19 64 HSP90AA1 3320 broad.mit.edu 37 14 102550835 102550835 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr14:102550835C>G uc001yku.3 - 6 1238 c.1048G>C c.(1048-1050)GAT>CAT p.D350H HSP90AA1_uc001ykv.3_Missense_Mutation_p.D472H|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D171H|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D339H NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 350 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) TCAAACAGATCAAAAGGAGCA 0.373 NaN 0 0 0 0.020292 0 15 61 OTUD7A 161725 broad.mit.edu 37 15 31793915 31793915 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr15:31793915C>G uc001zfq.2 - 8 1221 c.1128G>C c.(1126-1128)CAG>CAC p.Q376H OTUD7A_uc001zfr.2_Missense_Mutation_p.Q383H NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 376 Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCTGGTCTCTCTGTTCCATGG 0.577 NaN 0 0 0 0.006214 0 9 57 CASC5 57082 broad.mit.edu 37 15 40917795 40917795 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr15:40917795G>T uc010bbs.1 + 11 5572 c.5411G>T c.(5410-5412)AGA>ATA p.R1804I CASC5_uc010ucq.1_Missense_Mutation_p.R1628I|CASC5_uc001zme.2_Missense_Mutation_p.R1778I|CASC5_uc010bbt.1_Missense_Mutation_p.R1778I NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1804 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAAAAAATCAGAAAAAATGAG 0.333 NaN 1 0 5.9392e-07 0.021553 6.3104e-07 5 37 CCDC101 112869 broad.mit.edu 37 16 28602255 28602255 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:28602255G>A uc002dqf.2 + 9 949 c.764G>A c.(763-765)CGG>CAG p.R255Q uc010vct.1_Intron NM_138414 NP_612423 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 255 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(1) 1 CCCCCACAGCGGGTAAAGCAG 0.617 NaN 0 0 0 0.004672 0 3 13 PARD6A 50855 broad.mit.edu 37 16 67695381 67695381 + Missense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:67695381C>A uc002ett.2 + 2 178 c.87C>A c.(85-87)TTC>TTA p.F29L ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.F29L|PARD6A_uc002etu.2_5'UTR NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 29 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TCCGACGCTTCGCGCTGCCTC 0.662 NaN 1 0 3.51602e-12 0.008871 3.8905e-12 18 67 HYDIN 54768 broad.mit.edu 37 16 71220684 71220684 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr16:71220684C>A uc002ezr.2 - 2 243 c.115G>T c.(115-117)GAA>TAA p.E39* HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Nonsense_Mutation_p.E39*|HYDIN_uc010vmc.1_Nonsense_Mutation_p.E56*|HYDIN_uc010vmd.1_Nonsense_Mutation_p.E66*|HYDIN_uc002ezw.3_Nonsense_Mutation_p.E56* NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 39 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ACTTCTTCTTCTGTAACCACC 0.413 NaN 1 0 1.08611e-07 0.010729 1.16058e-07 12 65 SPATA22 84690 broad.mit.edu 37 17 3352265 3352265 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:3352265T>C uc002fvm.2 - 6 745 c.508A>G c.(508-510)AAA>GAA p.K170E SPATA22_uc010vrg.1_Missense_Mutation_p.K154E|SPATA22_uc010vrf.1_Missense_Mutation_p.K170E|SPATA22_uc002fvn.2_Missense_Mutation_p.K170E|SPATA22_uc002fvo.2_Missense_Mutation_p.K170E|SPATA22_uc002fvp.2_Missense_Mutation_p.K170E|SPATA22_uc010ckf.2_Missense_Mutation_p.K127E NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 170 0 TCGGTTTCTTTGTTGCGAGAT 0.403 NaN 0 0 0 0.01441 0 71 175 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:7578454G>A uc002gim.2 - 5 670 c.476C>T c.(475-477)GCC>GTC p.A159V TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) GATGGCCATGGCGCGGACGCG 0.627 111 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 0.006122 0 16 64 CHD3 1107 broad.mit.edu 37 17 7808955 7808955 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:7808955G>C uc002gje.2 + 27 4305 c.4155G>C c.(4153-4155)AAG>AAC p.K1385N CHD3_uc002gjd.2_Missense_Mutation_p.K1444N|CHD3_uc002gjf.2_Missense_Mutation_p.K1385N|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1385 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GACAGTCAAAGAGGCAGCTCC 0.567 NaN 0 0 0 0.021553 0 6 16 EMILIN2 84034 broad.mit.edu 37 18 2892374 2892374 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:2892374C>T uc002kln.2 + 4 2408 c.2249C>T c.(2248-2250)TCG>TTG p.S750L NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 750 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) ACGCTCAGGTCGCATTCCAGA 0.483 NaN 0 0 0 0.008871 0 21 165 C18orf1 753 broad.mit.edu 37 18 13645279 13645279 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:13645279C>T uc002ksa.2 + 7 1212 c.544C>T c.(544-546)CCT>TCT p.P182S C18orf1_uc002ksb.2_Missense_Mutation_p.P164S|C18orf1_uc002kse.2_Missense_Mutation_p.P145S|C18orf1_uc002ksf.2_Missense_Mutation_p.P127S|C18orf1_uc002ksg.1_Missense_Mutation_p.P105S|C18orf1_uc002ksh.1_Missense_Mutation_p.P124S|C18orf1_uc002ksi.1_Missense_Mutation_p.P106S NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 182 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) AGAGCCACCTCCTTACCAGGG 0.607 NaN 0 0 0 0.016522 0 23 225 ASXL3 80816 broad.mit.edu 37 18 31326233 31326233 + Missense_Mutation SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:31326233A>G uc010dmg.1 + 12 6476 c.6421A>G c.(6421-6423)AAA>GAA p.K2141E ASXL3_uc002kxq.2_Missense_Mutation_p.K1848E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGCTGCTCAGAAAATGCAGGT 0.408 NaN 0 0 0 0.012213 0 34 83 DCC 1630 broad.mit.edu 37 18 50976988 50976988 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:50976988C>T uc002lfe.1 + 23 3935 c.3348C>T c.(3346-3348)ATC>ATT p.I1116I DCC_uc010dpf.1_Silent_p.I751I NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1116 Helical; (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TAGTGGTCATCGTGGCTGTGA 0.512 NaN 0 0 0 0.008291 0 9 28 NFATC1 4772 broad.mit.edu 37 18 77170646 77170646 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:77170646C>T uc010xfg.1 + 2 824 c.371C>T c.(370-372)TCG>TTG p.S124L NFATC1_uc002lnc.1_Missense_Mutation_p.S124L|NFATC1_uc010xff.1_Missense_Mutation_p.S124L|NFATC1_uc002lnd.2_Missense_Mutation_p.S124L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.S124L|NFATC1_uc010xfi.1_Missense_Mutation_p.S111L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.S111L|NFATC1_uc002lng.2_Missense_Mutation_p.S111L|NFATC1_uc010xfk.1_Missense_Mutation_p.S111L NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 124 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GAGATAACCTCGTGCTTGGGC 0.627 NaN 0 0 0 0.004482 0 9 50 SH3GL1 6455 broad.mit.edu 37 19 4362650 4362650 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:4362650G>A uc002maj.2 - 8 918 c.812C>T c.(811-813)TCC>TTC p.S271F SH3GL1_uc002mak.2_Missense_Mutation_p.S207F|SH3GL1_uc010xig.1_Missense_Mutation_p.S223F NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 271 central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) GCCCCCGTTGGACTGCTCAGG 0.642 NaN T MLL AL 0 0 0 0.028581 0 16 54 RANBP3 8498 broad.mit.edu 37 19 5931433 5931433 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:5931433A>T uc002mdw.2 - 8 902 c.675T>A c.(673-675)GAT>GAA p.D225E RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.D225E|RANBP3_uc002mdy.2_Missense_Mutation_p.D157E|RANBP3_uc002mdz.2_Missense_Mutation_p.D157E|RANBP3_uc010duq.2_Missense_Mutation_p.D135E|RANBP3_uc002mea.2_Missense_Mutation_p.D97E|RANBP3_uc010xix.1_Missense_Mutation_p.D97E NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 225 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 CACACACCTCATCGGCAGCTT 0.652 NaN 0 0 0 0.008871 0 20 27 ICAM5 7087 broad.mit.edu 37 19 10402336 10402336 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:10402336G>A uc002mnu.3 + 3 589 c.524G>A c.(523-525)CGA>CAA p.R175Q ICAM5_uc002mnv.3_Missense_Mutation_p.R50Q NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 175 Extracellular (Potential).|Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GAACCACCCCGAGCGCGGGGC 0.731 NaN 0 0 0 0.006214 0 10 54 UNC13A 23025 broad.mit.edu 37 19 17760337 17760337 + Missense_Mutation SNP A A G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:17760337A>G uc002nhd.2 - 14 1763 c.1763T>C c.(1762-1764)ATC>ACC p.I588T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 500 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CACGAGTGGGATAGGTTTCCT 0.572 NaN 0 0 0 0.023175 0 38 83 PSG1 5669 broad.mit.edu 37 19 43376193 43376193 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:43376193C>G uc002ovb.2 - 3 573 c.435G>C c.(433-435)GAG>GAC p.E145D PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.E145D|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.E145D|PSG1_uc010eio.1_Missense_Mutation_p.E145D|PSG1_uc002oux.1_Missense_Mutation_p.E74D|PSG1_uc002ouy.1_Missense_Mutation_p.E145D|PSG1_uc002ouz.1_Missense_Mutation_p.E145D|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.E145D NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 145 female pregnancy extracellular region p.E145G(1) ovary(2) 2 Prostate(69;0.00682) GCTTAGGAGTCTCCACTGTGC 0.522 NaN 0 0 0 0.024334 0 28 330 KLC3 147700 broad.mit.edu 37 19 45854218 45854218 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:45854218G>C uc002pbf.1 + 12 1501 c.1386G>C c.(1384-1386)AAG>AAC p.K462N KLC3_uc010ejy.1_Missense_Mutation_p.K461N|KLC3_uc002pbg.1_Missense_Mutation_p.K476N NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 462 cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GCAGAATGAAGAGAGCCATGT 0.552 NaN 0 0 0 0.006214 0 9 94 PPP1R13L 10848 broad.mit.edu 37 19 45895561 45895561 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:45895561C>T uc002pbn.2 - 8 1469 c.1392G>A c.(1390-1392)CCG>CCA p.P464P PPP1R13L_uc002pbm.2_Silent_p.P43P|PPP1R13L_uc002pbo.2_Silent_p.P464P NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 464 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCTCTATCTCCGGCTCAGGCT 0.647 NaN 0 0 0 0.016723 0 13 82 ZNF419 79744 broad.mit.edu 37 19 58005153 58005153 + Nonsense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr19:58005153G>T uc002qov.2 + 5 1468 c.1228G>T c.(1228-1230)GAG>TAG p.E410* ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Nonsense_Mutation_p.E411*|ZNF419_uc010etz.1_Nonsense_Mutation_p.E398*|ZNF419_uc010eua.1_Nonsense_Mutation_p.E397*|ZNF419_uc002qow.2_Nonsense_Mutation_p.E378*|ZNF419_uc010eub.1_Nonsense_Mutation_p.E365*|ZNF419_uc010euc.1_Nonsense_Mutation_p.E364* NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 410 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) ATTCTTTAGAGAGAATTCCAC 0.418 NaN 1 0 9.57634e-11 0.01892 1.03513e-10 24 120 PIGF 5281 broad.mit.edu 37 2 46840834 46840834 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:46840834C>G uc002rvd.2 - 3 483 c.319G>C c.(319-321)GAG>CAG p.E107Q PIGF_uc002rvc.2_Missense_Mutation_p.E107Q NM_002643 NP_002634 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, 107 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CAAACTTACTCTATCAGTGGT 0.303 NaN 0 0 0 0.009096 0 4 15 PIGF 5281 broad.mit.edu 37 2 46842192 46842192 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:46842192C>G uc002rvd.2 - 2 276 c.112G>C c.(112-114)GAA>CAA p.E38Q PIGF_uc002rvc.2_Missense_Mutation_p.E38Q|CRIPT_uc002rve.2_5'Flank NM_002643 NP_002634 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, 38 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAGTGTGTTTCCAATATTGAG 0.348 NaN 0 0 0 0.008871 0 20 118 PELI1 57162 broad.mit.edu 37 2 64322381 64322381 + Missense_Mutation SNP A A C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:64322381A>C uc002scs.3 - 6 4751 c.712T>G c.(712-714)TTA>GTA p.L238V PELI1_uc002sct.3_Missense_Mutation_p.L238V|PELI1_uc002scr.3_Missense_Mutation_p.L59V NM_020651 NP_065702 Q96FA3 PELI1_HUMAN pellino protein 238 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ovary(1) 1 CCATCTTGTAACTGATTGGTT 0.398 NaN 0 0 0 0.01892 0 25 43 RETSAT 54884 broad.mit.edu 37 2 85570773 85570773 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:85570773A>T uc002spd.2 - 10 1873 c.1682T>A c.(1681-1683)CTC>CAC p.L561H RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L500H|RETSAT_uc010fgf.2_Missense_Mutation_p.L352H NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 561 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) TGTCAGATAGAGGTTGGGGAT 0.647 NaN 0 0 0 0.016522 0 21 36 FHL2 2274 broad.mit.edu 37 2 105979821 105979821 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:105979821G>A uc002tcu.2 - 5 946 c.609C>T c.(607-609)CGC>CGT p.R203R FHL2_uc002tdc.2_Silent_p.R89R|FHL2_uc002tdd.2_Silent_p.R203R|FHL2_uc002tct.2_Silent_p.R89R|FHL2_uc002tcv.2_Silent_p.R203R|FHL2_uc002tcw.2_Silent_p.R203R|FHL2_uc002tcx.2_Silent_p.R203R|FHL2_uc010fje.2_Silent_p.R116R|FHL2_uc002tcy.2_Silent_p.R203R|FHL2_uc002tcz.2_Silent_p.R313R|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Silent_p.R319R NM_201557 NP_963851 Q14192 FHL2_HUMAN four and a half LIM domains 2 203 LIM zinc-binding 3. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding ovary(1) 1 CAAAGTCATCGCGAGCTGTGA 0.612 NaN 0 0 0 0.009096 0 4 13 GLI2 2736 broad.mit.edu 37 2 121747574 121747574 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:121747574G>A uc010flp.2 + 13 4114 c.4084G>A c.(4084-4086)GCT>ACT p.A1362T GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.A1034T|GLI2_uc002tmu.3_Missense_Mutation_p.A1017T NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1362 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GATGGGGGTGGCTACAGCAGG 0.697 NaN 0 0 0 0.009096 0 4 7 PDE11A 50940 broad.mit.edu 37 2 178936981 178936981 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:178936981C>T uc002ulq.2 - 1 502 c.184G>A c.(184-186)GCT>ACT p.A62T PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 62 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GTGCTGTGAGCCAAGCTGCTG 0.627 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 0 0 0 0.004482 0 9 16 REM1 28954 broad.mit.edu 37 20 30071976 30071976 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:30071976G>A uc002wwa.2 + 5 924 c.640G>A c.(640-642)GCT>ACT p.A214T NCRNA00028_uc010ztn.1_5'Flank NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 214 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCGCGCCTGCGCTGTGGTGTT 0.617 NaN 0 0 0 0.013537 0 10 6 ZMYND8 23613 broad.mit.edu 37 20 45905274 45905274 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:45905274C>G uc002xta.1 - 11 1458 c.1204G>C c.(1204-1206)GAC>CAC p.D402H ZMYND8_uc010ghq.1_Missense_Mutation_p.D79H|ZMYND8_uc010ghr.1_Missense_Mutation_p.D377H|ZMYND8_uc002xst.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsu.1_Missense_Mutation_p.D402H|ZMYND8_uc002xsv.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsw.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsx.1_Missense_Mutation_p.D154H|ZMYND8_uc002xsy.1_Missense_Mutation_p.D377H|ZMYND8_uc002xsz.1_Missense_Mutation_p.D339H|ZMYND8_uc010zxy.1_Missense_Mutation_p.D429H|ZMYND8_uc002xtb.1_Missense_Mutation_p.D422H|ZMYND8_uc002xss.2_Missense_Mutation_p.D402H|ZMYND8_uc010zxz.1_Missense_Mutation_p.D397H|ZMYND8_uc002xtc.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtd.1_Missense_Mutation_p.D397H|ZMYND8_uc002xte.1_Missense_Mutation_p.D402H|ZMYND8_uc010zya.1_Missense_Mutation_p.D402H|ZMYND8_uc002xtf.1_Missense_Mutation_p.D422H|ZMYND8_uc002xtg.2_Missense_Mutation_p.D396H|ZMYND8_uc010ghs.1_Missense_Mutation_p.D396H NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 402 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GCCGTCATGTCAAAGTTGAGC 0.582 NaN 0 0 0 0.009718 0 40 133 C20orf135 140701 broad.mit.edu 37 20 62493636 62493636 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr20:62493636T>C uc002ygx.1 + 1 1071 c.743T>C c.(742-744)GTT>GCT p.V248A TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 248 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) GGCTGGTCTGTTGGCGGCTTC 0.672 NaN 0 0 0 0.00308 0 7 18 PNPLA3 80339 broad.mit.edu 37 22 44333050 44333050 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr22:44333050G>C uc003bei.1 + 6 1050 c.877G>C c.(877-879)GCT>CCT p.A293P PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 293 Lumenal (Potential). triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) GGCTGCCTTGGCTGTGAGGCT 0.617 NaN 0 0 0 0.006214 0 10 29 HACL1 26061 broad.mit.edu 37 3 15621475 15621475 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:15621475T>C uc003caf.2 - 9 905 c.745A>G c.(745-747)ATG>GTG p.M249V HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M222V|HACL1_uc011avt.1_Missense_Mutation_p.M223V|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M167V|HACL1_uc010hep.2_Intron NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 249 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 CCCTTCCCCATAGGGGTGGGC 0.443 NaN 0 0 0 0.015359 0 36 55 GALNTL2 117248 broad.mit.edu 37 3 16268952 16268952 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:16268952G>T uc003car.3 + 10 2340 c.1865G>T c.(1864-1866)GGA>GTA p.G622V GALNTL2_uc003caq.3_Missense_Mutation_p.G355V|GALNTL2_uc003cas.3_Missense_Mutation_p.G152V NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 622 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CCGTGTGATGGAAAAGCCCGC 0.428 NaN 1 0 1.10513e-12 0.014323 1.23012e-12 19 30 ZNF35 7584 broad.mit.edu 37 3 44692638 44692638 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:44692638G>A uc003cnq.2 + 2 300 c.79G>A c.(79-81)GAA>AAA p.E27K ZNF35_uc003cnr.2_5'UTR NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 27 Globular domain.|Poly-Glu. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GGAAGAAGAAGAAAACTTCCC 0.542 NaN 0 0 0 0.006214 0 10 55 ZNF35 7584 broad.mit.edu 37 3 44692740 44692740 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:44692740G>C uc003cnq.2 + 2 402 c.181G>C c.(181-183)GAG>CAG p.E61Q ZNF35_uc003cnr.2_5'UTR NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 61 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) TGGATCAGAAGAGGAAGAAAA 0.537 NaN 0 0 0 0.014758 0 5 38 TDGF1 6997 broad.mit.edu 37 3 46621463 46621463 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:46621463G>C uc003cpv.2 + 5 641 c.361G>C c.(361-363)GAC>CAC p.D121H LRRC2_uc003cpu.3_5'UTR NM_003212 NP_003203 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 121 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TGTGCCCCATGACACCTGGCT 0.557 NaN 0 0 0 0.010729 0 12 49 COL7A1 1294 broad.mit.edu 37 3 48623896 48623896 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:48623896G>C uc003ctz.2 - 26 3420 c.3419C>G c.(3418-3420)ACA>AGA p.T1140R NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1140 Nonhelical region (NC1).|VWFA 2. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTGTGAGCTGTGACCACGGC 0.592 NaN 0 0 0 0.01441 0 67 95 HYAL2 8692 broad.mit.edu 37 3 50357493 50357493 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:50357493C>T uc003czu.2 - 2 648 c.428G>A c.(427-429)CGC>CAC p.R143H HYAL2_uc003czx.2_Missense_Mutation_p.R143H|HYAL2_uc003czv.2_Missense_Mutation_p.R143H|HYAL2_uc003czw.2_Missense_Mutation_p.R143H|HYAL2_uc010hlj.2_Missense_Mutation_p.R143H NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor 143 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) CTGCCAGTTGCGCACCCACAC 0.592 NaN 0 0 0 0.010504 0 21 98 GRM2 2912 broad.mit.edu 37 3 51747292 51747292 + Silent SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:51747292C>G uc010hlv.2 + 3 1493 c.1254C>G c.(1252-1254)CTC>CTG p.L418L GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 418 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGCGCCGCCTCTACAAGGACT 0.587 NaN 0 0 0 0.004482 0 9 19 ALAS1 211 broad.mit.edu 37 3 52248035 52248035 + Splice_Site SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:52248035G>C uc003dcy.1 + 12 2100 c.1763_splice c.e12-1 p.E588_splice ALAS1_uc003dcz.1_Splice_Site_p.E588_splice|ALAS1_uc011bec.1_Splice_Site_p.E605_splice NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTTCTCCTCAGAGAATCTGCT 0.303 NaN 0 0 0 0.010729 0 11 46 PLXND1 23129 broad.mit.edu 37 3 129304863 129304863 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:129304863C>T uc003emx.2 - 5 1883 c.1783G>A c.(1783-1785)GAG>AAG p.E595K NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 595 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CTGGGGCCCTCGCTGGCACTG 0.657 NaN 0 0 0 0.016522 0 24 94 NDUFB5 4711 broad.mit.edu 37 3 179322629 179322629 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:179322629G>T uc003fkc.2 + 1 55 c.26G>T c.(25-27)CGG>CTG p.R9L MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.R9L NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 9 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) TTGTTGCGGCGGGTTTCGGTT 0.607 NaN 1 0 0.00621372 0.006214 0.0064197 9 37 FGFR3 2261 broad.mit.edu 37 4 1803704 1803704 + Silent SNP T T C rs2234909 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:1803704T>C uc003gdr.3 + 7 1138 c.882T>C c.(880-882)AAT>AAC p.N294N FGFR3_uc003gdu.2_Silent_p.N294N|FGFR3_uc003gds.3_Silent_p.N294N|FGFR3_uc003gdq.3_Silent_p.N294N|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Silent_p.N136N NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 294 Ig-like C2-type 3.|Extracellular (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.N294N(5) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGGAGGTGAATGGCAGCAAGG 0.672 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.021553 0 6 23 WHSC2 7469 broad.mit.edu 37 4 1985773 1985773 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:1985773C>T uc003gem.2 - 9 1377 c.1137G>A c.(1135-1137)GCG>GCA p.A379A WHSC2_uc003gek.2_Silent_p.A105A|WHSC2_uc003gel.2_Silent_p.A293A|WHSC2_uc003gen.2_Silent_p.A233A NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 368 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) GCTTGAACTGCGCTGGCAACG 0.716 NaN 0 0 0 0.009096 0 4 14 RGS12 6002 broad.mit.edu 37 4 3319746 3319746 + Nonsense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:3319746C>T uc003ggw.2 + 2 2753 c.1849C>T c.(1849-1851)CGA>TGA p.R617* RGS12_uc003ggu.2_Nonsense_Mutation_p.R617*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.R617*|RGS12_uc003ggx.1_Nonsense_Mutation_p.R617* NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 617 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGTCCCCATCGAAATGTTCG 0.582 NaN 0 0 0 0.021523 0 27 107 EVC2 132884 broad.mit.edu 37 4 5570351 5570351 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:5570351G>A uc003gij.2 - 20 3431 c.3377C>T c.(3376-3378)TCG>TTG p.S1126L EVC2_uc011bwb.1_Missense_Mutation_p.S566L|EVC2_uc003gik.2_Missense_Mutation_p.S1046L NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1126 integral to membrane large_intestine(3)|ovary(2) 5 CGCCAGGTACGATGCCAGTCT 0.577 NaN 0 0 0 0.00308 0 6 11 NIPAL1 152519 broad.mit.edu 37 4 48035086 48035086 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:48035086G>C uc003gxw.2 + 4 513 c.447G>C c.(445-447)TTG>TTC p.L149F NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 149 Helical; (Potential). integral to membrane 0 TGGGTGCTTTGAGTGTTCTCA 0.428 NaN 0 0 0 0.013537 0 13 43 NHEDC1 150159 broad.mit.edu 37 4 103867833 103867833 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:103867833T>C uc003hww.2 - 5 618 c.496A>G c.(496-498)ATA>GTA p.I166V NHEDC1_uc003hwu.2_Missense_Mutation_p.I166V|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 166 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) CCAGCTCTTATTAGAATAATG 0.363 NaN 0 0 0 0.011902 0 45 41 UGT8 7368 broad.mit.edu 37 4 115544466 115544466 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:115544466G>A uc003ibs.2 + 2 952 c.430G>A c.(430-432)GGA>AGA p.G144R UGT8_uc003ibt.2_Missense_Mutation_p.G144R|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 144 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGATATGTGTGGATTTGTGAT 0.448 NaN 0 0 0 0.01441 0 49 97 HHIP 64399 broad.mit.edu 37 4 145573799 145573799 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:145573799G>C uc003ijs.1 + 2 977 c.322G>C c.(322-324)GAG>CAG p.E108Q HHIP_uc003ijr.1_Missense_Mutation_p.E108Q NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 108 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GAAGTTACTGGAGGAAATCAA 0.393 NaN 0 0 0 0.007413 0 19 92 HHIP 64399 broad.mit.edu 37 4 145635380 145635380 + Missense_Mutation SNP G G A rs147064425 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:145635380G>A uc003ijs.1 + 9 2082 c.1427G>A c.(1426-1428)AGT>AAT p.S476N NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 476 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TTTCCAGAAAGTGAGCCATCA 0.353 NaN 0 0 0 0.008291 0 10 34 NPY5R 4889 broad.mit.edu 37 4 164271826 164271826 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:164271826C>T uc003iqn.2 + 4 583 c.401C>T c.(400-402)TCA>TTA p.S134L NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 134 Helical; Name=3; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) ATTTTAATATCAATTGCCATT 0.358 NaN 0 0 0 0.025465 0 42 159 CLCN3 1182 broad.mit.edu 37 4 170608906 170608906 + Nonsense_Mutation SNP C C A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:170608906C>A uc003isi.2 + 4 925 c.416C>A c.(415-417)TCA>TAA p.S139* CLCN3_uc003ish.2_Nonsense_Mutation_p.S139*|CLCN3_uc011cjz.1_Nonsense_Mutation_p.S122*|CLCN3_uc011cka.1_Nonsense_Mutation_p.S139*|CLCN3_uc003isj.1_Nonsense_Mutation_p.S112* NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 139 Helical; (By similarity). endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GGATTGGCATCAGGTAAAGAA 0.358 NaN 1 0 4.84862e-15 0.010729 5.5286e-15 12 62 GALNTL6 442117 broad.mit.edu 37 4 173961175 173961175 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:173961175C>T uc003isv.2 + 13 2466 c.1730C>T c.(1729-1731)TCT>TTT p.S577F NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 577 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GACCCTCTCTCTGAGACTCAG 0.428 NaN 0 0 0 0.024245 0 16 71 CDH18 1016 broad.mit.edu 37 5 19571845 19571845 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:19571845C>G uc003jgc.2 - 7 1473 c.1096G>C c.(1096-1098)GAT>CAT p.D366H CDH18_uc003jgd.2_Missense_Mutation_p.D366H|CDH18_uc011cnm.1_Missense_Mutation_p.D366H NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 366 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATAGTAGCATCTTTAAAAGGA 0.403 NaN 0 0 0 0.006122 0 19 55 GHR 2690 broad.mit.edu 37 5 42718627 42718627 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:42718627G>A uc003jmt.2 + 10 1061 c.1018G>A c.(1018-1020)GAC>AAC p.D340N GHR_uc011cpq.1_Missense_Mutation_p.D153N NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 340 Cytoplasmic (Potential).|UbE motif. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCACAGTGATGACTCTTGGGT 0.378 NaN 0 0 0 0.01441 0 130 143 CWC27 10283 broad.mit.edu 37 5 64100077 64100077 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:64100077G>C uc003jtn.1 + 10 1021 c.802G>C c.(802-804)GAG>CAG p.E268Q CWC27_uc003jtl.2_Missense_Mutation_p.E268Q|CWC27_uc003jtm.2_Missense_Mutation_p.E268Q|CWC27_uc010iwt.1_Missense_Mutation_p.E268Q NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 268 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 TGAAAGTGCAGAGCATGATGA 0.368 NaN 0 0 0 0.028581 0 16 31 F2RL1 2150 broad.mit.edu 37 5 76128611 76128611 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:76128611C>G uc003keo.2 + 2 354 c.179C>G c.(178-180)TCT>TGT p.S60C NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 60 Extracellular (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) ACAGTCTTTTCTGTGGATGAG 0.438 NaN 0 0 0 0.012213 0 32 71 ZCCHC9 84240 broad.mit.edu 37 5 80600669 80600669 + Silent SNP A A C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:80600669A>C uc003khj.2 + 2 226 c.93A>C c.(91-93)GGA>GGC p.G31G RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.G31G|ZCCHC9_uc003khi.2_Silent_p.G31G NM_001131035 NP_001124507 Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 31 nucleic acid binding|zinc ion binding ovary(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) CCTTTGAGGGAACAAGCCAAA 0.423 NaN 0 0 0 0.012319 0 22 50 DCP2 167227 broad.mit.edu 37 5 112327847 112327847 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:112327847C>G uc003kqh.2 + 3 433 c.235C>G c.(235-237)CAA>GAA p.Q79E DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_5'UTR NM_152624 NP_689837 Q8IU60 DCP2_HUMAN DCP2 decapping enzyme 79 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TTTGCTGCCTCAAGGTGAAGA 0.353 NaN 0 0 0 0.014323 0 19 82 KCNN2 3781 broad.mit.edu 37 5 113698511 113698511 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr5:113698511G>A uc003kqo.2 + 1 496 c.39G>A c.(37-39)CCG>CCA p.P13P NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 13 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TCATGCGGCCGCTCAGCAACT 0.607 NaN 0 0 0 0.004482 0 8 6 ZBTB22 9278 broad.mit.edu 37 6 33284496 33284496 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:33284496C>T uc003oeb.2 - 2 350 c.198G>A c.(196-198)CGG>CGA p.R66R TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.R66R NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 66 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCCGGAACTCCCGGCCCTGCA 0.592 NaN 0 0 0 0.01441 0 48 70 BRPF3 27154 broad.mit.edu 37 6 36168155 36168155 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:36168155C>T uc003olv.3 + 2 280 c.56C>T c.(55-57)TCC>TTC p.S19F BRPF3_uc010jwb.2_Missense_Mutation_p.S19F|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.S19F NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 19 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 CGTTCCCCGTCCCCCTACAGT 0.627 NaN 0 0 0 0.021553 0 6 75 MDGA1 266727 broad.mit.edu 37 6 37622222 37622222 + Silent SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:37622222G>T uc003onu.1 - 6 1989 c.810C>A c.(808-810)CTC>CTA p.L270L MDGA1_uc003onw.3_5'Flank NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 270 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 GCAGCTGGGGGAGGGGATCAC 0.647 NaN 1 0 7.45023e-12 0.010504 8.19525e-12 22 41 MDGA1 266727 broad.mit.edu 37 6 37622284 37622284 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:37622284G>C uc003onu.1 - 6 1927 c.748C>G c.(748-750)CTG>GTG p.L250V MDGA1_uc003onw.3_5'Flank NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 250 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 TTCACCACCAGAGTTTCGTTC 0.617 NaN 0 0 0 0.010771 0 43 78 TREM1 54210 broad.mit.edu 37 6 41254347 41254347 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:41254347G>A uc003oqf.1 - 1 111 c.47C>T c.(46-48)TCA>TTA p.S16L TREM1_uc003oqg.1_Missense_Mutation_p.S16L NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 16 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) TGTCTTACCTGAGACAAAGAG 0.577 NaN 0 0 0 0.006214 0 10 79 TDRD6 221400 broad.mit.edu 37 6 46660807 46660807 + Missense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:46660807C>G uc003oyj.2 + 1 4942 c.4942C>G c.(4942-4944)CAA>GAA p.Q1648E TDRD6_uc010jze.2_Missense_Mutation_p.Q1642E NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1648 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) ATTATGTTCTCAAGAGGGAAA 0.383 NaN 0 0 0 0.020292 0 14 104 DST 667 broad.mit.edu 37 6 56391242 56391242 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:56391242C>T uc003pdf.2 - 63 11717 c.11689G>A c.(11689-11691)GAC>AAC p.D3897N DST_uc003pcz.3_Missense_Mutation_p.D3719N|DST_uc011dxj.1_Missense_Mutation_p.D3748N|DST_uc011dxk.1_Missense_Mutation_p.D3759N|DST_uc003pcy.3_Missense_Mutation_p.D3393N NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5805 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CGCTCATTGTCCTCAGCTACC 0.493 NaN 0 0 0 0.013726 0 35 127 DST 667 broad.mit.edu 37 6 56420230 56420230 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:56420230G>T uc003pdf.2 - 54 8720 c.8692C>A c.(8692-8694)CTG>ATG p.L2898M DST_uc003pcz.3_Missense_Mutation_p.L2720M|DST_uc011dxj.1_Missense_Mutation_p.L2749M|DST_uc011dxk.1_Missense_Mutation_p.L2760M|DST_uc003pcy.3_Missense_Mutation_p.L2394M NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4806 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTTTAACCAGTGCTGACAAA 0.408 NaN 1 0 4.11147e-13 0.017118 4.60387e-13 33 70 ZNF451 26036 broad.mit.edu 37 6 57012841 57012841 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:57012841G>C uc003pdm.1 + 10 2182 c.1958G>C c.(1957-1959)CGA>CCA p.R653P ZNF451_uc003pdl.2_Missense_Mutation_p.R653P|ZNF451_uc003pdn.1_Missense_Mutation_p.R653P|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R653P NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 653 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACATTGTACCGACATTGCCAA 0.373 NaN 0 0 0 0.01441 0 57 84 CASP8AP2 9994 broad.mit.edu 37 6 90573429 90573429 + Silent SNP T T A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:90573429T>A uc003pnr.2 + 7 2197 c.2001T>A c.(1999-2001)ACT>ACA p.T667T CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.T667T|CASP8AP2_uc011dzz.1_Silent_p.T667T NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 667 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTGACAATACTATGCATTGTG 0.418 NaN 0 0 0 0.010504 0 20 11 PLEKHG1 57480 broad.mit.edu 37 6 151130805 151130805 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:151130805C>T uc003qny.1 + 11 1525 c.1213C>T c.(1213-1215)CGC>TGC p.R405C PLEKHG1_uc011eel.1_Missense_Mutation_p.R445C|PLEKHG1_uc011eem.1_Missense_Mutation_p.R464C|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R405C NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 405 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCAAGACAAACGCCTCTGGGT 0.473 NaN 0 0 0 0.020292 0 15 27 SYNE1 23345 broad.mit.edu 37 6 152551705 152551705 + Nonsense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:152551705G>A uc010kiw.2 - 115 21774 c.21172C>T c.(21172-21174)CAA>TAA p.Q7058* SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1582*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6987*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q7058* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7058 Cytoplasmic (Potential).|Spectrin 22. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGTGCATTTTGAACAGAAGCC 0.388 NaN HNSCC(10;0.0054) 0 0 0 0.007413 0 15 120 PLEKHA8 84725 broad.mit.edu 37 7 30094400 30094400 + Nonsense_Mutation SNP C C G TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:30094400C>G uc003tam.1 + 8 963 c.872C>G c.(871-873)TCA>TGA p.S291* PLEKHA8_uc003tao.2_Nonsense_Mutation_p.S175*|PLEKHA8_uc003tap.1_Nonsense_Mutation_p.S291*|PLEKHA8_uc003tan.2_Nonsense_Mutation_p.S291* NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 291 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 CAGTCTGGATCAGACTCAAGT 0.388 NaN 0 0 0 0.014323 0 22 68 PKD1L1 168507 broad.mit.edu 37 7 47930253 47930253 + Silent SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:47930253T>C uc003tny.1 - 16 2562 c.2562A>G c.(2560-2562)CAA>CAG p.Q854Q NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 854 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CACTGAGCCATTGTGCCTCAA 0.602 NaN 0 0 0 0.004482 0 9 41 ZNF107 51427 broad.mit.edu 37 7 64168367 64168367 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:64168367A>T uc003ttd.2 + 7 2471 c.1685A>T c.(1684-1686)AAC>ATC p.N562I ZNF107_uc003tte.2_Missense_Mutation_p.N562I NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 562 C2H2-type 18; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) AAAGTTTTTAACCAGTCCTCA 0.348 NaN 0 0 0 0.009535 0 32 50 ZNF804B 219578 broad.mit.edu 37 7 88965564 88965564 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:88965564G>C uc011khi.1 + 4 3806 c.3268G>C c.(3268-3270)GAG>CAG p.E1090Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1090 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGATTCAACAGAGACCCAAGA 0.363 NaN HNSCC(36;0.09) 0 0 0 0.00499 0 18 49 CADPS2 93664 broad.mit.edu 37 7 122261661 122261661 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:122261661C>T uc010lkp.2 - 5 1141 c.978G>A c.(976-978)TCG>TCA p.S326S CADPS2_uc003vkg.3_Silent_p.S26S|CADPS2_uc010lkq.2_Silent_p.S326S NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 326 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 GACCACCTTTCGAAACTGGAA 0.368 NaN 0 0 0 0.028581 0 17 69 ZC3HC1 51530 broad.mit.edu 37 7 129680811 129680811 + Missense_Mutation SNP G G T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:129680811G>T uc003vpi.2 - 3 416 c.389C>A c.(388-390)CCA>CAA p.P130Q ZC3HC1_uc003vph.2_Missense_Mutation_p.P17Q|ZC3HC1_uc010lma.2_Missense_Mutation_p.P17Q NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 130 C3HC-type. cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) GTCAAAAGCTGGTTGTAAACT 0.418 NaN 1 0 8.88839e-20 0.010818 1.01971e-19 32 129 GIMAP8 155038 broad.mit.edu 37 7 150171609 150171609 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:150171609G>A uc003whj.2 + 4 1522 c.1192G>A c.(1192-1194)GCC>ACC p.A398T NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 398 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGATATAGTGCCTTCAACTA 0.443 NaN 0 0 0 0.016522 0 24 110 DPP6 1804 broad.mit.edu 37 7 154595651 154595651 + Missense_Mutation SNP G G C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr7:154595651G>C uc003wlk.2 + 14 1614 c.1485G>C c.(1483-1485)GAG>GAC p.E495D DPP6_uc003wli.2_Missense_Mutation_p.E431D|DPP6_uc003wlm.2_Missense_Mutation_p.E433D|DPP6_uc011kvq.1_Missense_Mutation_p.E388D NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 495 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCTACGATGAGAAGGGGAATA 0.502 NaN 0 0 0 0.009096 0 4 12 ADRA1A 148 broad.mit.edu 37 8 26628136 26628136 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:26628136C>T uc003xfh.1 - 2 1367 c.931G>A c.(931-933)GTA>ATA p.V311I ADRA1A_uc003xfc.1_Missense_Mutation_p.V311I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V311I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V311I NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 311 Helical; Name=7; (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity p.V311I(1) breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGCCAAAATACTATTTTAAAA 0.393 NaN 0 0 0 0.007413 0 19 62 FZD3 7976 broad.mit.edu 37 8 28384671 28384671 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:28384671G>A uc003xgx.2 + 5 872 c.394G>A c.(394-396)GAT>AAT p.D132N FZD3_uc010lvb.2_Missense_Mutation_p.D132N NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 132 FZ.|Extracellular (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TAGGTTCCCAGATTGTGATGA 0.423 NaN 0 0 0 0.009535 0 26 81 TRPA1 8989 broad.mit.edu 37 8 72946563 72946563 + Missense_Mutation SNP T T A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:72946563T>A uc003xza.2 - 22 2780 c.2605A>T c.(2605-2607)ACT>TCT p.T869S uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 869 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTCAACAAAGTTTTCAAAATT 0.294 NaN 0 0 0 0.016723 0 14 53 TRPA1 8989 broad.mit.edu 37 8 72964852 72964852 + Missense_Mutation SNP G G A rs147715599 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:72964852G>A uc003xza.2 - 14 1968 c.1793C>T c.(1792-1794)ACG>ATG p.T598M uc011lff.1_RNA|uc003xyy.2_RNA NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 598 ANK 15.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CCTGATGATCGTAAGAACAAC 0.448 NaN 0 0 0 0.016522 0 24 72 VPS13B 157680 broad.mit.edu 37 8 100866463 100866463 + Missense_Mutation SNP G G T rs149659649 byFrequency TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:100866463G>T uc003yiv.2 + 56 11032 c.10921G>T c.(10921-10923)GCT>TCT p.A3641S VPS13B_uc003yiw.2_Missense_Mutation_p.A3616S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3641 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCACTATGCCGCTGGGGCCCT 0.552 NaN 1 0 2.37509e-13 0.010504 2.67556e-13 22 17 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:102213947A>T uc003yka.2 - 3 438 c.23T>A c.(22-24)ATT>AAT p.I8N ZNF706_uc003ykb.2_Missense_Mutation_p.I8N NM_001042510 NP_001035975 Q9Y5V0 ZN706_HUMAN HSPC038 protein 8 intracellular zinc ion binding ovary(2) 2 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393 NaN 0 0 0 0.010729 0 8 36 OPLAH 26873 broad.mit.edu 37 8 145113243 145113243 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr8:145113243G>A uc003zar.3 - 7 930 c.848C>T c.(847-849)TCC>TTC p.S283F OPLAH_uc003zat.1_Missense_Mutation_p.S61F NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 283 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CACAGCACTGGAGCCGCTGAA 0.687 NaN 0 0 0 0.009096 0 4 10 TAF1L 138474 broad.mit.edu 37 9 32633772 32633772 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:32633772G>A uc003zrg.1 - 1 1896 c.1806C>T c.(1804-1806)ACC>ACT p.T602T uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 602 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCCTCCAAAGGTGCCCCGAA 0.483 NaN 0 0 0 0.01441 0 55 126 ABCA1 19 broad.mit.edu 37 9 107580989 107580989 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:107580989G>A uc004bcl.2 - 23 3730 c.3417C>T c.(3415-3417)CTC>CTT p.L1139L NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1139 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGCAGGAACTGAGGGAGGATT 0.537 NaN 0 0 0 0.021553 0 6 84 SVEP1 79987 broad.mit.edu 37 9 113149637 113149637 + Missense_Mutation SNP T T C TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:113149637T>C uc010mtz.2 - 42 10325 c.9988A>G c.(9988-9990)AGT>GGT p.S3330G SVEP1_uc010mty.2_Missense_Mutation_p.S1256G NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3330 Sushi 32. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCTTCAAGACTGTAGCCTCTG 0.483 NaN 0 0 0 0.006122 0 19 50 SPTAN1 6709 broad.mit.edu 37 9 131388859 131388859 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:131388859G>A uc004bvl.3 + 48 6567 c.6454G>A c.(6454-6456)GAG>AAG p.E2152K SPTAN1_uc004bvm.3_Missense_Mutation_p.E2157K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2132K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2152 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 CCAGCTGGCCGAGCTGGACCG 0.597 NaN 0 0 0 0.013537 0 13 36 COL5A1 1289 broad.mit.edu 37 9 137710579 137710579 + Silent SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:137710579G>A uc004cfe.2 + 55 4690 c.4308G>A c.(4306-4308)CCG>CCA p.P1436P NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1436 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCCCGGACCGGATGGCCTTC 0.697 NaN 0 0 0 0.014758 0 4 12 NOTCH1 4851 broad.mit.edu 37 9 139393627 139393627 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:139393627C>T uc004chz.2 - 32 6019 c.6019G>A c.(6019-6021)GTG>ATG p.V2007M NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2007 ANK 3.|Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCCCTCCACGGCCAGGCGG 0.657 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 0.006122 0 18 27 C9orf172 389813 broad.mit.edu 37 9 139739888 139739888 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr9:139739888C>T uc011meh.1 + 1 1022 c.1022C>T c.(1021-1023)TCC>TTC p.S341F PHPT1_uc004cjp.2_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 341 Pro-rich. 0 GAACCGCCCTCCCGCTCCTAC 0.701 NaN 0 0 0 0.014758 0 5 17 NLGN4X 57502 broad.mit.edu 37 X 6069450 6069450 + Missense_Mutation SNP T T A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrX:6069450T>A uc010ndh.2 - 2 559 c.58A>T c.(58-60)ATG>TTG p.M20L NLGN4X_uc004crp.2_Missense_Mutation_p.M20L|NLGN4X_uc004crq.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndi.2_Missense_Mutation_p.M20L|NLGN4X_uc004crr.2_Missense_Mutation_p.M20L|NLGN4X_uc010ndj.2_Missense_Mutation_p.M20L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 20 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GAGTTTAACATGACGCAGACC 0.498 NaN 0 0 0 0.027356 0 25 13 CXorf66 347487 broad.mit.edu 37 X 139038603 139038603 + Missense_Mutation SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrX:139038603C>T uc004fbb.2 - 3 560 c.538G>A c.(538-540)GAA>AAA p.E180K NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 180 Cytoplasmic (Potential). integral to membrane 0 TGTGCCTTTTCCAGGTGAGAT 0.413 NaN 0 0 0 0.01441 0 65 149 PCDH11Y 83259 broad.mit.edu 37 Y 4968004 4968004 + Silent SNP C C T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chrY:4968004C>T uc004fqo.2 + 2 3119 c.2385C>T c.(2383-2385)TTC>TTT p.F795F PCDH11Y_uc010nwg.1_Silent_p.F784F|PCDH11Y_uc004fql.1_Silent_p.F784F|PCDH11Y_uc004fqm.1_Silent_p.F784F|PCDH11Y_uc004fqn.1_Silent_p.F795F|PCDH11Y_uc004fqp.1_Silent_p.F566F NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 795 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 ATTCTCTCTTCAGTGTTGTAA 0.423 NaN 0 0 0 0.010729 0 8 130 CCDC83 220047 broad.mit.edu 37 11 85593685 85593685 + Frame_Shift_Del DEL A A - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr11:85593685delA uc001pbh.1 + 4 822 c.310delA c.(310-312)AAGfs p.K104fs CCDC83_uc001pbg.1_Frame_Shift_Del_p.K104fs|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Frame_Shift_Del_p.K61fs NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 104 Potential. skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GGAAAAATGGAAGTTTGAAAG 0.378 NaN NaN NaN NaN NaN NaN 23 75 --- --- TP53 7157 broad.mit.edu 37 17 7577104 7577105 + Frame_Shift_Ins INS - - GGACAGGC TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 - GGACAGGC - - Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr17:7577104_7577105insGGACAGGC uc002gim.2 - 8 1027_1028 c.833_834insGCCTGTCC c.(832-834)CCTfs p.P278fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P278fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P146fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P146fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P278fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P278fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P278fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 278 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.R280fs*65(2)|p.P278fs*28(2)|p.?(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTCTCTCCCAGGACAGGCACA 0.554 111 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) NaN NaN NaN NaN NaN 10 22 --- --- MBD1 4152 broad.mit.edu 37 18 47802039 47802039 + Frame_Shift_Del DEL G G - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr18:47802039delG uc010dow.1 - 8 1160 c.723delC c.(721-723)CCCfs p.P241fs MBD1_uc002lef.2_Frame_Shift_Del_p.P23fs|MBD1_uc002leg.2_Frame_Shift_Del_p.P192fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.P267fs|MBD1_uc002leh.3_Frame_Shift_Del_p.P241fs|MBD1_uc002len.2_Frame_Shift_Del_p.P241fs|MBD1_uc002lei.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lej.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lek.3_Frame_Shift_Del_p.P192fs|MBD1_uc002lel.3_Frame_Shift_Del_p.P241fs|MBD1_uc002lem.3_Frame_Shift_Del_p.P241fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.P241fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.P241fs|MBD1_uc010dox.1_Frame_Shift_Del_p.P241fs|MBD1_uc002leo.2_Frame_Shift_Del_p.P241fs NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 241 CXXC-type 2. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GAAGGCAGATGGGGCAATGGC 0.637 NaN NaN NaN NaN NaN NaN 8 48 --- --- CCDC138 165055 broad.mit.edu 37 2 109403310 109403310 + Frame_Shift_Del DEL A A - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr2:109403310delA uc002ten.1 + 1 92 c.32delA c.(31-33)CAGfs p.Q11fs CCDC138_uc002teo.1_Frame_Shift_Del_p.Q11fs|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 11 0 CCACCGGGGCAGGATTTAGTA 0.667 NaN NaN NaN NaN NaN NaN 2 4 --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + In_Frame_Del DEL AGC AGC - rs76272937 TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr3:12046124_12046126delAGC uc003bwm.2 + 1 263_265 c.99_101delAGC c.(97-102)CAACCG>CAG p.P40del SYN2_uc003bwl.1_In_Frame_Del_p.P40del NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 40 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 AGCCCCAGCAAGCGCCGAcgccg 0.345 NaN NaN NaN NaN NaN NaN 2 4 --- --- INPP4B 8821 broad.mit.edu 37 4 143003291 143003291 + Frame_Shift_Del DEL G G - TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr4:143003291delG uc003iix.3 - 26 3130 c.2535delC c.(2533-2535)GCCfs p.A845fs INPP4B_uc003iiw.3_Frame_Shift_Del_p.A845fs|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Frame_Shift_Del_p.A660fs|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 845 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TCCTGTCTTTGGCACTTTTAC 0.408 NaN NaN NaN NaN NaN NaN 26 53 --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8dea890-442e-4a02-936f-9bf2d284533b da22f11e-a35b-469e-8de2-ded22821adab g.chr6:29694802_29694803insT uc003nno.3 + 7 1303_1304 c.1179_1180insT c.(1177-1182)TTGTTTfs p.L393fs HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA NM_001098479 NP_001091949 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 TGTGGATCTTGTTTTTTTTGTG 0.535 NaN NaN NaN NaN NaN NaN 7 330 --- ---