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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CAMTA1 23261 broad.mit.edu 37 1 7792638 7792638 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:7792638G>T uc001aoi.2 + 12 3252 c.3045G>T c.(3043-3045)GGG>GGT p.G1015G CAMTA1_uc010nzv.1_Silent_p.G102G|CAMTA1_uc001aok.3_Silent_p.G58G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1015 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) GCGGGAGCGGGAATGGAGGGA 0.632 NA 3 10 1.23904e-05 1.5366e-05 0.000602 1 0 UTS2 10911 broad.mit.edu 37 1 7913047 7913047 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:7913047G>A uc001aor.2 - 1 58 c.17C>T c.(16-18)TCC>TTC p.S6F UTS2_uc001aoq.2_Missense_Mutation_p.S6F|UTS2_uc001aos.2_Intron NM_006786 NP_006777 O95399 UTS2_HUMAN urotensin 2 isoform b preproprotein 6 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity 0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) CAAACAGCAGGAGGCCAGCTT 0.423 NA 6 35 0 0 0.001168 0 0 UBE4B 10277 broad.mit.edu 37 1 10238772 10238772 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:10238772T>C uc001aqs.3 + 26 4309 c.3596T>C c.(3595-3597)ATA>ACA p.I1199T UBE4B_uc001aqr.3_Missense_Mutation_p.I1070T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.I654T|UBE4B_uc001aqu.2_Missense_Mutation_p.I80T NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 1199 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AAATCCACAATAGCAATAGAA 0.458 NA 8 22 0 0 0.004482 0 0 PADI3 51702 broad.mit.edu 37 1 17593303 17593303 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:17593303T>G uc001bai.2 + 5 538 c.498T>G c.(496-498)AAT>AAG p.N166K NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 166 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCCAGGACAATTGTGACCAGC 0.617 NA 22 90 0 0 0.005443 0 0 KIF17 57576 broad.mit.edu 37 1 20992805 20992805 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:20992805A>T uc001bdr.3 - 14 2931 c.2813T>A c.(2812-2814)CTC>CAC p.L938H KIF17_uc001bdp.3_Missense_Mutation_p.L215H|KIF17_uc001bdq.3_Missense_Mutation_p.L216H|KIF17_uc009vpx.2_Missense_Mutation_p.L308H|KIF17_uc001bds.3_Missense_Mutation_p.L937H NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 938 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ACTGAGCATGAGCCTGTAGCG 0.597 NA 33 101 0 0 0.002522 0 0 C1orf109 54955 broad.mit.edu 37 1 38155304 38155304 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:38155304G>T uc001cbp.2 - 2 439 c.249C>A c.(247-249)ATC>ATA p.I83I C1orf109_uc010oig.1_Silent_p.I146I|C1orf109_uc001cbo.2_Silent_p.I145I|C1orf109_uc001cbq.1_Intron|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank NM_017850 NP_060320 Q9NX04 CA109_HUMAN hypothetical protein LOC54955 83 0 Myeloproliferative disorder(586;0.0393) TGTCCAGGACGATGTCACCAG 0.532 NA 4 79 0.00116845 0.00132874 0.001168 1 0 ELTD1 64123 broad.mit.edu 37 1 79387384 79387384 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:79387384G>T uc001diq.3 - 9 1327 c.1171C>A c.(1171-1173)CTG>ATG p.L391M NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 391 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAGTATGTCAGCTCACAGCCC 0.423 NA 17 61 6.49762e-13 9.79306e-13 0.006122 1 0 OLFM3 118427 broad.mit.edu 37 1 102270424 102270424 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:102270424G>A uc001duf.2 - 6 878 c.807C>T c.(805-807)TAC>TAT p.Y269Y OLFM3_uc001dug.2_Silent_p.Y249Y|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.Y174Y|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 269 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CAATTGATTTGTATTCACGAA 0.378 NA 3 53 0 0 0.004672 0 0 CEPT1 10390 broad.mit.edu 37 1 111724837 111724837 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:111724837T>C uc001eah.1 + 6 951 c.743T>C c.(742-744)ATT>ACT p.I248T CEPT1_uc001eai.1_Missense_Mutation_p.I248T|CEPT1_uc001eaj.1_Missense_Mutation_p.I248T|CEPT1_uc009wfz.1_Intron NM_001007794 NP_001007795 Q9Y6K0 CEPT1_HUMAN choline/ethanolaminephosphotransferase 248 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding 0 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) CAAATGAAAATTTTTCCTGCA 0.318 NA 2 29 0 0 0.004672 0 0 FLG2 388698 broad.mit.edu 37 1 152328222 152328222 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:152328222A>G uc001ezw.3 - 3 2113 c.2040T>C c.(2038-2040)GGT>GGC p.G680G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 680 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGTCCAAAACCAGAGGATT 0.478 NA 4 354 0 0 0.001368 0 0 NES 10763 broad.mit.edu 37 1 156646857 156646857 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:156646857A>T uc001fpq.2 - 1 333 c.200T>A c.(199-201)GTT>GAT p.V67D NM_006617 NP_006608 P48681 NEST_HUMAN nestin 67 Coil 1B.|Rod. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCGTTGGTCAACGAGGGCCCG 0.736 NA 4 4 0 0 0.000602 0 0 INSRR 3645 broad.mit.edu 37 1 156814505 156814505 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:156814505C>A uc010pht.1 - 13 2822 c.2568G>T c.(2566-2568)TTG>TTT p.L856F NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 856 Fibronectin type-III 3.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTACCTCTCCCAAGCGGCGGT 0.617 NA 34 45 1.59361e-14 2.48508e-14 0.006999 1 0 CD1E 913 broad.mit.edu 37 1 158324263 158324263 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:158324263A>T uc001fse.2 + 2 394 c.155A>T c.(154-156)CAC>CTC p.H52L CD1E_uc010pid.1_Missense_Mutation_p.H50L|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.H52L|CD1E_uc001fsk.2_Missense_Mutation_p.H52L|CD1E_uc001fsj.2_Missense_Mutation_p.H52L|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.H52L|CD1E_uc001fry.2_Missense_Mutation_p.H52L|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.H52L|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.H52L|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 52 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) AGCTGGGCACACAGTGAGGGC 0.572 NA 30 49 0 0 0.007291 0 0 OR10K2 391107 broad.mit.edu 37 1 158390131 158390131 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:158390131G>C uc010pii.1 - 1 526 c.526C>G c.(526-528)CAC>GAC p.H176D NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CAGAAGAAGTGATGTAGTTGA 0.468 NA 10 113 0 0 0.001368 0 0 OR6N2 81442 broad.mit.edu 37 1 158747012 158747012 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:158747012G>A uc010pir.1 - 1 414 c.414C>T c.(412-414)ACC>ACT p.T138T NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) CACAGAGTGTGGTGGTCATAA 0.512 NA 21 44 0 0 0.00333 0 0 RGS8 85397 broad.mit.edu 37 1 182636035 182636035 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:182636035G>C uc010pnw.1 - 4 358 c.100C>G c.(100-102)CTT>GTT p.L34V RGS8_uc001gpn.1_Missense_Mutation_p.L34V|RGS8_uc001gpm.1_Missense_Mutation_p.L52V NM_001102450 NP_001095920 P57771 RGS8_HUMAN regulator of G-protein signalling 8 isoform 2 34 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1) 1 TTGTCTGGAAGAATAGCTGTG 0.502 Ovarian(189;1262 3804 41973) NA 6 105 0 0 0.00308 0 0 NMNAT2 23057 broad.mit.edu 37 1 183221856 183221856 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:183221856C>T uc001gqc.1 - 11 1179 c.844G>A c.(844-846)GGC>AGC p.G282S NMNAT2_uc009wye.1_RNA|NMNAT2_uc001gqb.1_Missense_Mutation_p.G277S NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 282 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 ACAACATGGCCGTCCCCATGC 0.582 NA 32 53 0 0 0.003271 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202418211 202418211 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:202418211C>T uc001gya.1 + 13 1906 c.1762C>T c.(1762-1764)CTT>TTT p.L588F PPP1R12B_uc001gxz.1_Missense_Mutation_p.L588F NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 588 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) CAATCGCCCTCTTCCTAGCAC 0.512 NA 6 56 0 0 0.001168 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205312401 205312401 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:205312401C>T uc001hcf.1 - 2 900 c.332G>A c.(331-333)AGC>AAC p.S111N KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.S111N NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 111 Kelch 3. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACGCAGCATGCTCCTCTTCTT 0.622 NA 13 190 0 0 0.003163 0 0 IRF6 3664 broad.mit.edu 37 1 209965758 209965758 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:209965758G>C uc001hhq.1 - 6 786 c.523C>G c.(523-525)CCA>GCA p.P175A IRF6_uc010psm.1_Missense_Mutation_p.P80A|IRF6_uc009xct.1_Missense_Mutation_p.P175A NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 175 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) ACACTGGCTGGCGCCATGGGA 0.547 NA HNSCC(57;0.16) 3 40 0 0 0.000602 0 0 USH2A 7399 broad.mit.edu 37 1 215972392 215972392 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:215972392G>T uc001hku.1 - 50 10202 c.9815C>A c.(9814-9816)CCG>CAG p.P3272Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3272 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTGGAGTACGGCATTCTGCC 0.483 NA HNSCC(13;0.011) 18 31 1.67942e-08 2.30007e-08 0.006122 1 0 MIA3 375056 broad.mit.edu 37 1 222828121 222828121 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:222828121G>T uc001hnl.2 + 18 4602 c.4593G>T c.(4591-4593)GAG>GAT p.E1531D MIA3_uc001hnm.2_Missense_Mutation_p.E409D NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1531 Cytoplasmic (Potential).|Potential. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) AGCAGAAGGAGATGGCTTTGC 0.373 NA 22 38 4.26978e-12 6.31446e-12 0.00333 1 0 TRIM67 440730 broad.mit.edu 37 1 231298752 231298752 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:231298752C>G uc009xfn.1 + 1 79 c.37C>G c.(37-39)CTG>GTG p.L13V NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 13 RING-type; degenerate. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GTGCGGCTCTCTGTTTCGGGA 0.667 NA 3 23 0 0 0.000602 0 0 OR2T2 401992 broad.mit.edu 37 1 248616171 248616171 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:248616171C>A uc001iek.1 + 1 73 c.73C>A c.(73-75)CCC>ACC p.P25T NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 25 Extracellular (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) TCCTGCCTTCCCCGGGCTTCT 0.532 NA 4 149 2.17888e-05 2.68104e-05 0.006214 1 0 OR2T3 343173 broad.mit.edu 37 1 248637204 248637204 + Nonsense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr1:248637204G>T uc001iel.1 + 1 553 c.553G>T c.(553-555)GAG>TAG p.E185* NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 185 Extracellular (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) TTTTTTCTGTGAGACTCCTGC 0.517 NA 7 45 3.09899e-07 4.06742e-07 0.004482 1 0 GAD2 2572 broad.mit.edu 37 10 26589834 26589834 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:26589834C>A uc001isp.2 + 16 2205 c.1702C>A c.(1702-1704)CAC>AAC p.H568N GAD2_uc001isq.2_Missense_Mutation_p.H568N NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 568 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) AGCGGCAACTCACCAAGACAT 0.448 NA 21 76 1.55469e-16 2.49862e-16 0.00333 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37430773 37430773 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:37430773G>A uc001iza.1 + 7 879 c.780G>A c.(778-780)ACG>ACA p.T260T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 316 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CACCTGACACGGCTGAAAGCT 0.493 NA 3 37 0 0 0.004672 0 0 SGMS1 259230 broad.mit.edu 37 10 52103589 52103589 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:52103589C>A uc001jje.2 - 7 1240 c.286G>T c.(286-288)GGC>TGC p.G96C SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.G96C|SGMS1_uc010qhl.1_RNA NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 102 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity ovary(1)|kidney(1) 2 CTGAAGCTGCCGTCGGGGGTG 0.512 NA 8 56 0.00448238 0.00500691 0.004482 1 0 HK1 3098 broad.mit.edu 37 10 71158462 71158462 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:71158462G>C uc001jpl.3 + 17 2588 c.2487G>C c.(2485-2487)AGG>AGC p.R829S HK1_uc001jpg.3_Missense_Mutation_p.R817S|HK1_uc001jph.3_Missense_Mutation_p.R833S|HK1_uc001jpi.3_Missense_Mutation_p.R833S|HK1_uc001jpj.3_Missense_Mutation_p.R864S|HK1_uc001jpk.3_Missense_Mutation_p.R828S NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 829 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TGTCCAGGAGGGCCGCACAGC 0.602 NA 8 45 0 0 0.000978 0 0 TRIM8 81603 broad.mit.edu 37 10 104416839 104416839 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:104416839G>T uc001kvz.2 + 6 1507 c.1384G>T c.(1384-1386)GGC>TGC p.G462C NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 462 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCAGTATGGCGGCCGCAAGAT 0.657 NA 9 53 0.000673444 0.000768605 0.008291 1 0 PDCD11 22984 broad.mit.edu 37 10 105205183 105205183 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:105205183G>T uc001kwy.1 + 36 5580 c.5493G>T c.(5491-5493)ATG>ATT p.M1831I NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1831 HAT 4. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCAAGAGAATGAAGTTCTTCT 0.542 NA 15 78 2.35188e-11 3.44578e-11 0.006122 1 0 SORCS3 22986 broad.mit.edu 37 10 106401672 106401672 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:106401672A>C uc001kyi.1 + 1 814 c.587A>C c.(586-588)CAC>CCC p.H196P NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 196 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GACTCGGCCCACAACCAAGCC 0.706 NSCLC(116;1497 1690 7108 13108 14106) NA 3 20 0 0 0.000602 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135097385 135097385 + Splice_Site SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr10:135097385C>T uc001lmg.1 - 14 2502 c.2145_splice c.e14+1 p.S715_splice TUBGCP2_uc001lmf.1_Splice_Site_p.S308_splice|TUBGCP2_uc010qvc.1_Splice_Site_p.S743_splice|TUBGCP2_uc009ybk.1_Splice_Site_p.S738_splice|TUBGCP2_uc010qvd.1_Splice_Site_p.S585_splice|TUBGCP2_uc001lmh.1_Splice_Site NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CTAAAACTCACGGATTTCAGG 0.378 NA 3 73 0 0 0.000602 0 0 EPS8L2 64787 broad.mit.edu 37 11 721571 721571 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:721571C>G uc001lqt.2 + 10 1022 c.775C>G c.(775-777)CTC>GTC p.L259V EPS8L2_uc010qwj.1_Missense_Mutation_p.L275V|EPS8L2_uc001lqu.2_Missense_Mutation_p.L259V|EPS8L2_uc010qwk.1_Missense_Mutation_p.L275V|EPS8L2_uc001lqv.2_Missense_Mutation_p.L214V|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 259 cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGCAAATCCTCAACTGCGC 0.632 NA 3 15 0 0 0.004672 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643028 1643028 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:1643028C>A uc009ycy.1 - 3 521 c.434G>T c.(433-435)GGG>GTG p.G145V NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 159 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCACAGCCCCCCTTGGAACC 0.682 NA 10 79 2.48551e-13 3.81919e-13 0.00499 1 0 CALCA 796 broad.mit.edu 37 11 14992652 14992652 + Splice_Site SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:14992652C>G uc001mlt.1 - 2 161 c.86_splice c.e2+1 p.R29_splice CALCA_uc001mlu.1_Splice_Site|CALCA_uc001mlv.1_Splice_Site_p.R29_splice|CALCA_uc001mlw.1_Splice_Site_p.R29_splice NM_001033953 NP_001029125 P06881 CALCA_HUMAN calcitonin isoform CGRP preproprotein activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1) 1 Phentolamine(DB00692) GGCTGTCTTACCTGAATGGTG 0.418 NA 7 58 0 0 0.00308 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399021 22399021 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:22399021C>A uc001mqk.2 + 12 1897 c.1484C>A c.(1483-1485)GCA>GAA p.A495E NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 495 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 ATATTTTATGCAATATTTGCC 0.438 NA 7 39 5.18039e-06 6.55351e-06 0.00308 1 0 C11orf41 25758 broad.mit.edu 37 11 33566850 33566850 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:33566850C>T uc001mup.3 + 2 2562 c.2438C>T c.(2437-2439)GCT>GTT p.A813V C11orf41_uc001mun.1_Missense_Mutation_p.A813V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 807 integral to membrane ovary(2) 2 GCTGCATCGGCTGCAGTGGTC 0.547 NA 3 27 0 0 0.004672 0 0 CREB3L1 90993 broad.mit.edu 37 11 46342033 46342033 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:46342033G>A uc001ncf.2 + 11 1912 c.1477G>A c.(1477-1479)GGC>AGC p.G493S CREB3L1_uc001ncg.2_Missense_Mutation_p.G127S NM_052854 NP_443086 Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 493 Lumenal (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) soft_tissue(6)|ovary(2) 8 GBM - Glioblastoma multiforme(35;0.0285) CGGTGGAAACGGCACCAGCCC 0.637 Pancreas(3;159 194 19597 26278 47995) NA T FUS myxofibrosarcoma 3 11 0 0 0.000248 0 0 OR4C6 219432 broad.mit.edu 37 11 55433333 55433333 + Missense_Mutation SNP C C T rs140747151 byFrequency TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55433333C>T uc001nht.3 + 3 956 c.691C>T c.(691-693)CGG>TGG p.R231W OR4C6_uc010rik.1_Missense_Mutation_p.R231W NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CTCTAAAGGGCGGCACAAAGC 0.502 NA 3 94 0 0 0.000248 0 0 OR5L1 219437 broad.mit.edu 37 11 55579671 55579672 + Missense_Mutation DNP CC CC TA TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55579671_55579672CC>TA uc001nhw.1 + 1 729_730 c.729_730CC>TA c.(727-732)TCCCAC>TCTAAC p.H244N NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) CCTGTGCTTCCCACCTCACAGC 0.52 NA 11 75 0 0 0.004672 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798471 55798471 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55798471C>A uc010riw.1 + 1 577 c.577C>A c.(577-579)CAG>AAG p.Q193K NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TACAGACACTCAGATCAACCA 0.418 NA 28 206 3.76114e-14 5.83625e-14 0.004289 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798836 55798836 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55798836G>T uc010riw.1 + 1 942 c.942G>T c.(940-942)TGG>TGT p.W314C NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) CAAATGAATGGTATTTAAATC 0.269 NA 5 26 0.000157383 0.000184984 0.00308 1 0 OR5T2 219464 broad.mit.edu 37 11 55999767 55999767 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:55999767C>A uc010rjc.1 - 1 895 c.895G>T c.(895-897)GTG>TTG p.V299L NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 299 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CTTGGTCTCACATACATGAAG 0.428 NA 22 116 1.22574e-08 1.70091e-08 0.002299 1 0 OR5M1 390168 broad.mit.edu 37 11 56380698 56380698 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:56380698T>A uc001nja.1 - 1 281 c.281A>T c.(280-282)TAC>TTC p.Y94F NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GCATCCAGCGTAGGAGATGGT 0.448 NA 12 56 0 0 0.00499 0 0 CLP1 10978 broad.mit.edu 37 11 57427353 57427353 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:57427353C>T uc001nkw.2 + 2 544 c.405C>T c.(403-405)CTC>CTT p.L135L CLP1_uc010rjw.1_Silent_p.L135L|CLP1_uc009yml.2_Silent_p.L135L NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 135 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 GCCTTCTGCTCAACTACGCAG 0.597 NA 4 23 0 0 0.000602 0 0 TCN1 6947 broad.mit.edu 37 11 59622172 59622172 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:59622172G>T uc001noj.2 - 7 1172 c.1074C>A c.(1072-1074)TTC>TTA p.F358L NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 358 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCACACTGAGGAAGACAGAAC 0.383 NA 16 66 1.37522e-17 2.23297e-17 0.007413 1 0 AHNAK 79026 broad.mit.edu 37 11 62303495 62303495 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:62303495C>A uc001ntl.2 - 3 376 c.76G>T c.(76-78)GCC>TCC p.A26S AHNAK_uc001ntk.1_Missense_Mutation_p.A26S NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 26 PDZ. nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCCCTCTGGGCGATGGTCAGC 0.637 NA 8 54 7.48243e-07 9.58116e-07 0.006214 1 0 SLC22A12 116085 broad.mit.edu 37 11 64359055 64359055 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:64359055C>T uc001oam.1 + 1 774 c.27C>T c.(25-27)CTC>CTT p.L9L SLC22A12_uc009ypr.1_Silent_p.L9L|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Silent_p.L9L|SLC22A12_uc001oan.1_Silent_p.L9L|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 9 Helical; (Potential). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 TCCTGGACCTCGTGGGTGGCC 0.597 NA 12 75 0 0 0.00245 0 0 SUV420H1 51111 broad.mit.edu 37 11 67953299 67953299 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:67953299C>G uc001onm.1 - 3 513 c.257G>C c.(256-258)AGT>ACT p.S86T SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.S86T|SUV420H1_uc001onp.2_Missense_Mutation_p.S86T|SUV420H1_uc010rqa.1_Missense_Mutation_p.S86T|SUV420H1_uc001onq.2_Missense_Mutation_p.S86T NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 AAGAACCAAACTGGTTGCTAG 0.393 NA 12 50 0 0 0.003163 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73078683 73078683 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:73078683C>T uc001otu.2 + 21 6071 c.6050C>T c.(6049-6051)CCC>CTC p.P2017L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 2017 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CACCGAGGCCCCGCCCCTGCC 0.647 NA 15 72 0 0 0.003163 0 0 ME3 10873 broad.mit.edu 37 11 86209163 86209163 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:86209163C>A uc001pbz.2 - 5 801 c.547G>T c.(547-549)GTG>TTG p.V183L ME3_uc001pca.2_Missense_Mutation_p.V183L|ME3_uc009yvk.2_Missense_Mutation_p.V183L|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 183 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GTCACCACCACGGCCTGAAAA 0.622 NA 10 69 2.27111e-07 3.00588e-07 0.001368 1 0 FOLH1B 219595 broad.mit.edu 37 11 89405081 89405081 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:89405081C>A uc001pda.2 + 5 734 c.208C>A c.(208-210)CGG>AGG p.R70R NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 70 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGGAGGTCACCGGGACTCATG 0.418 NA 5 44 3.59834e-05 4.39332e-05 0.001168 1 0 FAT3 120114 broad.mit.edu 37 11 92086148 92086148 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:92086148A>T uc001pdj.3 + 1 887 c.870A>T c.(868-870)TTA>TTT p.L290F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 290 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTGATGACTTAGATGATGGAG 0.443 NA TCGA Ovarian(4;0.039) 3 37 0 0 0.000248 0 0 CARD16 114769 broad.mit.edu 37 11 104915304 104915304 + Nonsense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:104915304A>C uc001pip.1 - 2 116 c.89T>G c.(88-90)TTA>TGA p.L30* CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Nonsense_Mutation_p.L30* NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 30 CARD. regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 CCTTGTCTGTAATAATTCATC 0.423 NA 50 178 0 0 0.00361 0 0 RAB39 54734 broad.mit.edu 37 11 107832694 107832694 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:107832694C>T uc001pjt.2 + 2 268 c.250C>T c.(250-252)CGC>TGC p.R84C NM_017516 NP_059986 Q14964 RB39A_HUMAN RAB39, member RAS oncogene family 84 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179) ATCTTATTACCGCAACTCAGT 0.353 NA 4 23 0 0 0.000602 0 0 OR10G8 219869 broad.mit.edu 37 11 123900657 123900657 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:123900657G>A uc001pzp.1 + 1 328 c.328G>A c.(328-330)GAG>AAG p.E110K NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 110 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;0.0521) AGGGGGCACCGAGTGTTTCCT 0.537 NA 11 96 0 0 0.008291 0 0 CCDC15 80071 broad.mit.edu 37 11 124857495 124857495 + Missense_Mutation SNP A A C rs113451248 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr11:124857495A>C uc001qbm.3 + 8 1632 c.1373A>C c.(1372-1374)CAC>CCC p.H458P NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 458 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATGTTCTCCACAAAGACCAA 0.418 NA 3 74 0 0 0.000248 0 0 GALNT8 26290 broad.mit.edu 37 12 4881637 4881637 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:4881637C>G uc001qne.1 + 11 1880 c.1788C>G c.(1786-1788)ACC>ACG p.T596T NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 596 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 ACAGAGATACCAAGCGGTGTC 0.517 Colon(108;631 1558 7270 20097 39846) NA 8 65 0 0 0.006214 0 0 CLEC4A 50856 broad.mit.edu 37 12 8276539 8276539 + Missense_Mutation SNP A A G rs36113649 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:8276539A>G uc001qtz.1 + 1 312 c.65A>G c.(64-66)AAC>AGC p.N22S CLEC4A_uc009zga.1_Missense_Mutation_p.N22S|CLEC4A_uc001qub.1_Missense_Mutation_p.N22S|CLEC4A_uc001quc.1_Missense_Mutation_p.N22S|CLEC4A_uc009zgb.1_Missense_Mutation_p.N22S NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 22 Cytoplasmic (Potential). cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) TCAGGCATCAACACAGCCTCT 0.418 NA 28 45 0 0 0.003271 0 0 CD69 969 broad.mit.edu 37 12 9907713 9907713 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:9907713T>A uc001qwk.2 - 3 413 c.332A>T c.(331-333)AAT>ATT p.N111I CD69_uc010sgu.1_Missense_Mutation_p.N111I|CD69_uc010sgv.1_Missense_Mutation_p.N111I NM_001781 NP_001772 Q07108 CD69_HUMAN CD69 molecule 111 C-type lectin.|Extracellular (Potential). integral to plasma membrane sugar binding|transmembrane receptor activity 0 AGAACAAGCATTTTGGGCTGA 0.383 NA 29 53 0 0 0.006999 0 0 CLEC1A 51267 broad.mit.edu 37 12 10228148 10228148 + Silent SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:10228148A>C uc001qxb.2 - 4 582 c.498T>G c.(496-498)CTT>CTG p.L166L CLEC1A_uc009zhf.2_Silent_p.L78L|CLEC1A_uc001qxc.2_Silent_p.L78L|CLEC1A_uc001qxd.2_Silent_p.L123L|CLEC1A_uc010sgx.1_Silent_p.L64L NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 166 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 AGTTTTCACTAAGGCAGAAAT 0.393 NA 26 47 0 0 0.00632 0 0 TAS2R42 353164 broad.mit.edu 37 12 11338798 11338798 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:11338798G>A uc001qzr.1 - 1 746 c.746C>T c.(745-747)TCC>TTC p.S249F PRB4_uc001qzf.1_Intron NM_181429 NP_852094 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 249 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0455) CACTTGTAAGGAAAAAAAATG 0.418 Melanoma(15;352 722 10077 19546 48810) NA 8 32 0 0 0.00308 0 0 PRB2 653247 broad.mit.edu 37 12 11546771 11546771 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:11546771G>C uc010shk.1 - 3 276 c.241C>G c.(241-243)CCA>GCA p.P81A NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGGTCCTTGTGGC 0.612 NA 7 372 0 0 0.001984 0 0 KRAS 3845 broad.mit.edu 37 12 25380196 25380196 + Nonsense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:25380196T>A uc001rgp.1 - 3 443 c.262A>T c.(262-264)AAA>TAA p.K88* KRAS_uc001rgq.1_Nonsense_Mutation_p.K88* NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 88 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TCAAATGATTTAGTATTATTT 0.333 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 39 0 0 0.001855 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 16 4.3838e-07 5.6827e-07 0.001855 1 0 DDX11 1663 broad.mit.edu 37 12 31236747 31236747 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:31236747G>T uc001rjt.1 + 3 396 c.145G>T c.(145-147)GGG>TGG p.G49W DDX11_uc010sjw.1_Missense_Mutation_p.G49W|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.G49W|DDX11_uc001rjs.1_Missense_Mutation_p.G49W|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.G49W|DDX11_uc001rjw.1_Missense_Mutation_p.G23W NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 49 ATP (By similarity).|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTTCCTGCAGGGGAAGTCCTT 0.443 NA Multiple Myeloma(12;0.14) 4 42 8.12818e-05 9.80988e-05 0.001984 1 0 SYT10 341359 broad.mit.edu 37 12 33592396 33592396 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:33592396G>T uc001rll.1 - 1 359 c.62C>A c.(61-63)ACC>AAC p.T21N SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 21 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCACAGCTCGGTGACGATGTG 0.572 NA 76 170 2.02624e-56 3.48778e-56 0.00361 1 0 WIF1 11197 broad.mit.edu 37 12 65445163 65445163 + Missense_Mutation SNP C C G rs138241385 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:65445163C>G uc001ssk.2 - 10 1251 c.1106G>C c.(1105-1107)CGG>CCG p.R369P NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 369 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TGGATCCCGCCGCTCCTCGGC 0.498 Esophageal Squamous(148;1595 1816 48559 49439 49664) NA T HMGA2 pleomorphic salivary gland adenoma 12 34 0 0 0.001855 0 0 BEST3 144453 broad.mit.edu 37 12 70065291 70065291 + Silent SNP G G A rs113525790 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:70065291G>A uc001svg.2 - 9 1244 c.1017C>T c.(1015-1017)GAC>GAT p.D339D BEST3_uc001svd.1_Silent_p.D339D|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.D126D|BEST3_uc010stm.1_Silent_p.D233D|BEST3_uc001svh.2_Silent_p.D126D NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 339 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CAGCAGAATCGTCCCAGTAAA 0.433 NA 5 49 0 0 0.001984 0 0 PPFIA2 8499 broad.mit.edu 37 12 81768487 81768487 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:81768487G>T uc001szo.1 - 11 1353 c.1192C>A c.(1192-1194)CAG>AAG p.Q398K PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 324 ovary(3)|lung(2)|pancreas(1) 6 CTCATGGTCTGCTGCAACTTT 0.458 NA 5 27 0.000602214 0.000694863 0.000602 1 0 PLXNC1 10154 broad.mit.edu 37 12 94634438 94634438 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:94634438C>A uc001tdc.2 + 11 2547 c.2298C>A c.(2296-2298)ATC>ATA p.I766I NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 766 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CCACCTGGATCAGGTACTTTC 0.388 NA 15 68 6.31663e-08 8.43109e-08 0.003163 1 0 GAS2L3 283431 broad.mit.edu 37 12 101012237 101012237 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:101012237G>C uc001thu.2 + 8 746 c.520G>C c.(520-522)GAG>CAG p.E174Q GAS2L3_uc009zty.2_Missense_Mutation_p.E174Q|GAS2L3_uc001thv.2_Missense_Mutation_p.E70Q NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 174 cell cycle arrest skin(1) 1 ATACGGGGTTGAGCCACCAGT 0.393 NA 7 38 0 0 0.00308 0 0 STAB2 55576 broad.mit.edu 37 12 104089428 104089428 + Splice_Site SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:104089428C>T uc001tjw.2 + 32 3660 c.3474_splice c.e32+2 p.I1158_splice NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TACATCATTGCAAGTACCACA 0.512 NA 4 47 0 0 0.001168 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729479 106729479 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:106729479T>G uc001tln.2 + 7 1009 c.835T>G c.(835-837)TCT>GCT p.S279A NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 279 ovary(3) 3 ATTTTCTCTTTCTGAGAGTGC 0.398 NA 4 35 0 0 0.000248 0 0 KNTC1 9735 broad.mit.edu 37 12 123082445 123082445 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:123082445C>A uc001ucv.2 + 44 4686 c.4523C>A c.(4522-4524)ACA>AAA p.T1508K KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1508 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTGACGAGCACAAAAGATTTG 0.498 NA 7 58 0.000157383 0.000184984 0.00308 1 0 POLE 5426 broad.mit.edu 37 12 133220029 133220029 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr12:133220029T>A uc001uks.1 - 34 4452 c.4408A>T c.(4408-4410)ATG>TTG p.M1470L POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.M274L|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.M1443L NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1470 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AGAGAGCGCATCTCCAGGTGC 0.597 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 7 93 0 0 0.00308 0 0 RNF17 56163 broad.mit.edu 37 13 25370318 25370319 + Nonsense_Mutation DNP CC CC AA TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:25370318_25370319CC>AA uc001upr.2 + 11 1325_1326 c.1284_1285CC>AA c.(1282-1287)TGCCAT>TGAAAT p.428_429CH>*N RNF17_uc010tdd.1_Nonsense_Mutation_p.287_288CH>*N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.428_429CH>*N|RNF17_uc001ups.2_Nonsense_Mutation_p.367_368CH>*N|RNF17_uc001upq.1_3'UTR NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 428_429 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TAGATCCTTGCCATTTCTACAT 0.347 NA 3 56 0 0 0.004672 0 0 RXFP2 122042 broad.mit.edu 37 13 32356828 32356828 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:32356828T>G uc001utt.2 + 11 944 c.873T>G c.(871-873)AAT>AAG p.N291K RXFP2_uc010aba.2_Intron NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 291 LRR 7.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGCCTAGAAATCAAATTGGTT 0.408 NA 6 39 0 0 0.00308 0 0 DIS3 22894 broad.mit.edu 37 13 73352425 73352425 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:73352425C>T uc001vix.3 - 3 854 c.480G>A c.(478-480)TTG>TTA p.L160L DIS3_uc001viy.3_Silent_p.L130L|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 160 PINc. CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ACATTTTTTTCAAATGTTCAT 0.373 NA Multiple Myeloma(4;0.011) 4 27 0 0 0.000248 0 0 ZIC5 85416 broad.mit.edu 37 13 100617983 100617983 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr13:100617983C>A uc001vom.1 - 2 1889 c.1640G>T c.(1639-1641)AGT>ATT p.S547I NM_033132 NP_149123 Q96T25 ZIC5_HUMAN zinc finger protein of the cerebellum 5 547 cell differentiation nucleus DNA binding|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGGCTTGTCACTGGTGTGGAC 0.488 NA 9 67 0.00829132 0.00916409 0.008291 1 0 OR4M1 441670 broad.mit.edu 37 14 20248765 20248765 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:20248765G>T uc010tku.1 + 1 284 c.284G>T c.(283-285)GGT>GTT p.G95V NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTTCCTTTGGTGGATGCATT 0.463 NA 26 128 1.77063e-15 2.80276e-15 0.005443 1 0 RABGGTA 5875 broad.mit.edu 37 14 24738889 24738889 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:24738889C>A uc001wof.2 - 5 861 c.439G>T c.(439-441)GAC>TAC p.D147Y RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.D147Y|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 147 PFTA 3. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) CGCCGATAGTCCCAGCAGTGA 0.587 NA 9 26 0.000442599 0.000514461 0.006214 1 0 CTSG 1511 broad.mit.edu 37 14 25044576 25044576 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:25044576G>T uc001wpq.2 - 2 135 c.98C>A c.(97-99)CCC>CAC p.P33H NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 33 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) CGCCATGTAGGGGCGGGAGTG 0.572 NA 17 141 5.45727e-16 8.72609e-16 0.008361 1 0 RTN1 6252 broad.mit.edu 37 14 60074098 60074098 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:60074098G>A uc001xen.1 - 4 2087 c.1878C>T c.(1876-1878)TAC>TAT p.Y626Y RTN1_uc001xem.1_Silent_p.Y206Y|RTN1_uc001xek.1_Silent_p.Y58Y|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.Y43Y NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 626 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCAGGGCCAGGTAGGCCACGA 0.562 NA 6 43 0 0 0.001168 0 0 SMOC1 64093 broad.mit.edu 37 14 70442456 70442456 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:70442456T>A uc001xls.1 + 4 656 c.403T>A c.(403-405)TAC>AAC p.Y135N SMOC1_uc001xlt.1_Missense_Mutation_p.Y135N NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 135 Thyroglobulin type-1 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) TTACACTGGGTACTGCTGGTG 0.502 NA 11 55 0 0 0.00245 0 0 TMED10 10972 broad.mit.edu 37 14 75614413 75614413 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:75614413A>T uc001xrm.1 - 3 432 c.365T>A c.(364-366)GTG>GAG p.V122E TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR NM_006827 NP_006818 P49755 TMEDA_HUMAN transmembrane emp24 domain-containing protein 10 122 Lumenal (Potential).|GOLD. protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0126) GTCTAGGATCACGAGTTGGTC 0.483 NA 48 172 0 0 0.00361 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102483598 102483598 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:102483598T>C uc001yks.2 + 39 8186 c.8022T>C c.(8020-8022)TAT>TAC p.Y2674Y DYNC1H1_uc001ykt.1_Silent_p.Y165Y NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2674 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGGATAAATATGGGACCCAGA 0.453 NA 17 59 0 0 0.008871 0 0 PACS2 23241 broad.mit.edu 37 14 105833558 105833558 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:105833558A>G uc001yqt.2 + 5 607 c.432A>G c.(430-432)CAA>CAG p.Q144Q PACS2_uc001yqs.2_Silent_p.Q77Q|PACS2_uc001yqv.2_Silent_p.Q144Q|PACS2_uc001yqu.2_Silent_p.Q144Q NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 144 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) AGGTGATGCAACACCCGTCTG 0.642 NA 6 29 0 0 0.001168 0 0 C14orf80 283643 broad.mit.edu 37 14 105960174 105960174 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr14:105960174C>T uc001yrm.2 + 5 715 c.588C>T c.(586-588)ATC>ATT p.I196I C14orf80_uc001yrj.2_Intron|C14orf80_uc001yrk.2_Intron|C14orf80_uc001yrn.2_Silent_p.I196I|C14orf80_uc001yro.2_Intron|C14orf80_uc010tys.1_Silent_p.I18I NM_001134875 NP_001128347 Q86SX3 CN080_HUMAN hypothetical protein LOC283643 isoform 1 196 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.239) TGTTTTAGATCCACCTGTACA 0.602 NA 5 32 0 0 0.001984 0 0 GABRG3 2567 broad.mit.edu 37 15 27222209 27222209 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:27222209G>A uc001zbg.1 + 2 280 c.114G>A c.(112-114)TTG>TTA p.L38L GABRG3_uc001zbf.2_Silent_p.L38L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 38 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AGTGGGTCTTGGCTCCAAAAT 0.418 NSCLC(114;800 1656 7410 37729 45293) NA 9 28 0 0 0.004482 0 0 GABRG3 2567 broad.mit.edu 37 15 27777771 27777771 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:27777771C>A uc001zbg.1 + 10 1314 c.1148C>A c.(1147-1149)CCA>CAA p.P383Q NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 383 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GACATGAGGCCACCACCAACT 0.433 NSCLC(114;800 1656 7410 37729 45293) NA 7 27 8.12818e-05 9.80988e-05 0.001984 1 0 MTMR10 54893 broad.mit.edu 37 15 31233850 31233850 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:31233850G>A uc001zfh.1 - 16 2255 c.2157C>T c.(2155-2157)AAC>AAT p.N719N MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Silent_p.N133N|MTMR10_uc001zfg.1_Silent_p.N300N|MTMR10_uc010azx.1_Silent_p.N471N|MTMR10_uc001zfi.1_3'UTR NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 719 phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) GGCCGCTGGCGTTGAAGTACA 0.587 NA 3 6 0 0 0.004672 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063809 48063809 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:48063809G>A uc010bek.2 + 19 3409 c.3049G>A c.(3049-3051)GTG>ATG p.V1017M SEMA6D_uc001zvw.2_Missense_Mutation_p.V955M|SEMA6D_uc001zvy.2_Missense_Mutation_p.V1017M|SEMA6D_uc001zvz.2_Missense_Mutation_p.V961M|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.V955M|SEMA6D_uc001zwc.2_Missense_Mutation_p.V942M NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 1017 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGGAACACCAGTGAGTGTTCA 0.517 NA 24 100 0 0 0.007291 0 0 CEP152 22995 broad.mit.edu 37 15 49059641 49059641 + Nonsense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:49059641G>A uc001zwy.2 - 16 2072 c.2038C>T c.(2038-2040)CAG>TAG p.Q680* CEP152_uc001zwz.2_Nonsense_Mutation_p.Q680*|CEP152_uc001zxa.1_Nonsense_Mutation_p.Q587* NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 680 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCATGGTGCTGCTGATAAGTC 0.443 NA 7 54 0 0 0.004482 0 0 THSD4 79875 broad.mit.edu 37 15 72040905 72040905 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:72040905G>T uc002atb.1 + 13 2466 c.2387G>T c.(2386-2388)AGC>ATC p.S796I THSD4_uc002ate.2_Missense_Mutation_p.S436I NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 796 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TGTGCCAAGAGCTGGTTCCTC 0.572 NA 7 37 7.48243e-07 9.58116e-07 0.006214 1 0 ACSBG1 23205 broad.mit.edu 37 15 78474874 78474874 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:78474874G>A uc002bdh.2 - 7 884 c.828C>T c.(826-828)TGC>TGT p.C276C ACSBG1_uc010umw.1_Silent_p.C272C|ACSBG1_uc010umx.1_Silent_p.C34C|ACSBG1_uc010umy.1_Silent_p.C169C NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 276 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CTAGCACACAGCACTGGTTGG 0.592 NA 3 32 0 0 0.000248 0 0 NTRK3 4916 broad.mit.edu 37 15 88678344 88678344 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:88678344C>G uc002bme.1 - 9 1354 c.1192G>C c.(1192-1194)GAG>CAG p.E398Q NTRK3_uc002bmh.2_Missense_Mutation_p.E398Q|NTRK3_uc002bmf.1_Missense_Mutation_p.E398Q|NTRK3_uc010upl.1_Missense_Mutation_p.E300Q|NTRK3_uc010bnh.1_Missense_Mutation_p.E398Q|NTRK3_uc002bmg.2_Missense_Mutation_p.E398Q NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 398 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGAAAGGGCTCCTTGAGGAAG 0.532 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 15 78 0 0 0.00499 0 0 Unknown 0 broad.mit.edu 37 15 102292767 102292767 + Nonsense_Mutation SNP C C T rs113047734 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:102292767C>T uc010usj.1 + 4 414 c.355C>T c.(355-357)CGA>TGA p.R119* uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA CACAGCGGCGCGACGAGATGC 0.597 NA 6 23 0 0 0.00245 0 0 Unknown 0 broad.mit.edu 37 15 102292785 102292785 + Missense_Mutation SNP C C G rs143389223 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:102292785C>G uc010usj.1 + 4 432 c.373C>G c.(373-375)CAG>GAG p.Q125E uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA TGCTGCTTCTCAGAGCTGCTG 0.602 NA 3 28 0 0 0.00308 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 2 13 0 0 0.004672 0 0 ABAT 18 broad.mit.edu 37 16 8868846 8868846 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:8868846G>T uc002czc.3 + 13 1220 c.1054G>T c.(1054-1056)GTG>TTG p.V352L ABAT_uc002czd.3_Missense_Mutation_p.V352L|ABAT_uc010buh.2_Missense_Mutation_p.V294L|ABAT_uc010bui.2_Missense_Mutation_p.V352L NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 352 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CCCAGCAGACGTGATGACCTT 0.582 NA 11 48 2.61681e-11 3.81619e-11 0.00245 1 0 SLC6A2 6530 broad.mit.edu 37 16 55729223 55729223 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:55729223C>T uc002eif.2 + 8 1167 c.1056C>T c.(1054-1056)ATC>ATT p.I352I SLC6A2_uc010ccd.2_Silent_p.I352I|SLC6A2_uc002eig.2_Silent_p.I352I|SLC6A2_uc002eih.2_Silent_p.I352I|SLC6A2_uc002eii.2_Silent_p.I247I|SLC6A2_uc002eij.2_Silent_p.I66I NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 352 Helical; Name=7; (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCAACTGTATCACCAGCTTCG 0.547 NA 10 86 0 0 0.00245 0 0 RSPRY1 89970 broad.mit.edu 37 16 57265200 57265200 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:57265200C>T uc002elb.2 + 13 1776 c.1498C>T c.(1498-1500)CTA>TTA p.L500L RSPRY1_uc002elc.2_Silent_p.L500L|RSPRY1_uc002eld.2_Silent_p.L500L NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 500 extracellular region zinc ion binding ovary(1) 1 CTACGCCTTCCTAACAGCTGA 0.338 NA 6 55 0 0 0.001984 0 0 CSNK2A2 1459 broad.mit.edu 37 16 58220711 58220711 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:58220711A>C uc002enc.2 - 3 408 c.266T>G c.(265-267)CTT>CGT p.L89R NM_001896 NP_001887 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 89 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TCCACCACGAAGGTTCTCCAG 0.413 Melanoma(54;119 1219 18349 35700 39738) NA 18 88 0 0 0.001523 0 0 ZNF19 7567 broad.mit.edu 37 16 71509851 71509851 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:71509851C>A uc010cgc.1 - 6 1105 c.599G>T c.(598-600)GGT>GTT p.G200V ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.G188V|ZNF19_uc002fal.1_Missense_Mutation_p.G188V|ZNF19_uc002fam.1_Missense_Mutation_p.G200V NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 200 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) CGAAGAATTACCATTAAAGGC 0.443 NA 5 30 1.6384e-10 2.3566e-10 0.001984 1 0 CHST5 23563 broad.mit.edu 37 16 75563351 75563351 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr16:75563351G>A uc002fei.2 - 3 2327 c.932C>T c.(931-933)GCC>GTC p.A311V CHST5_uc002fej.1_Missense_Mutation_p.A317V NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 311 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCCGGTGAAGGCGTAGAGTGC 0.677 NA 19 96 0 0 0.002299 0 0 TP53 7157 broad.mit.edu 37 17 7578498 7578498 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:7578498C>A uc002gim.2 - 5 626 c.432G>T c.(430-432)CAG>CAT p.Q144H TP53_uc002gig.1_Missense_Mutation_p.Q144H|TP53_uc002gih.2_Missense_Mutation_p.Q144H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q12H|TP53_uc010cng.1_Missense_Mutation_p.Q12H|TP53_uc002gii.1_Missense_Mutation_p.Q12H|TP53_uc010cnh.1_Missense_Mutation_p.Q144H|TP53_uc010cni.1_Missense_Mutation_p.Q144H|TP53_uc002gij.2_Missense_Mutation_p.Q144H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q51H|TP53_uc002gio.2_Missense_Mutation_p.Q12H|TP53_uc010vug.1_Missense_Mutation_p.Q105H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 144 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (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.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.V143_S149del(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) CAACCCACAGCTGCACAGGGC 0.602 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 13 45 0.00400662 0.00449141 0.004007 1 0 MYH2 4620 broad.mit.edu 37 17 10447064 10447064 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:10447064G>A uc010coi.2 - 8 833 c.705C>T c.(703-705)AAC>AAT p.N235N uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N235N|MYH2_uc010coj.2_Silent_p.N235N NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 235 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CGGTCTTGGCGTTGCCAAAGG 0.478 NA 11 39 0 0 0.00245 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319335 21319335 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:21319335T>C uc002gyv.1 + 3 1386 c.681T>C c.(679-681)CAT>CAC p.H227H NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 227 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TGGAGGCCCATGTGCGCGCGC 0.642 NA Prostate(3;0.18) 17 46 0 0 0.007413 0 0 PIGS 94005 broad.mit.edu 37 17 26888618 26888618 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:26888618C>T uc002hbo.2 - 6 871 c.498G>A c.(496-498)AGG>AGA p.R166R PIGS_uc002hbn.2_Silent_p.R158R|PIGS_uc010wap.1_Silent_p.R105R NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 166 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) CCACTGCTGTCCTCTTGGGCC 0.562 NA 3 22 0 0 0.000248 0 0 KRT33A 3883 broad.mit.edu 37 17 39502461 39502461 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:39502461G>C uc002hwk.1 - 7 1162 c.1125C>G c.(1123-1125)ACC>ACG p.T375T NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 375 Tail. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) CACATGCATTGGTTGTGGCGC 0.512 NA 3 82 0 0 0.004672 0 0 CDC27 996 broad.mit.edu 37 17 45219643 45219643 + Missense_Mutation SNP T T C rs77510601 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:45219643T>C uc002ild.3 - 11 1457 c.1330A>G c.(1330-1332)ACA>GCA p.T444A CDC27_uc002ile.3_Missense_Mutation_p.T450A|CDC27_uc002ilf.3_Missense_Mutation_p.T444A|CDC27_uc010wkp.1_Missense_Mutation_p.T383A|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 444 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 GGTGTGATTGTGGATATTTTC 0.308 NA 4 30 0 0 0.000248 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48216665 48216665 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:48216665G>A uc002iqh.3 - 9 2039 c.2036C>T c.(2035-2037)GCG>GTG p.A679V NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 677 Potential.|Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 CTCAGTGACCGCATGCTTGAT 0.498 NA 4 202 0 0 0.000602 0 0 TOB1 10140 broad.mit.edu 37 17 48940956 48940956 + Silent SNP G G A rs142180537 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:48940956G>A uc002isw.2 - 1 458 c.423C>T c.(421-423)CCC>CCT p.P141P TOB1_uc010wmy.1_Silent_p.P141P|TOB1_uc010wmz.1_Silent_p.P141P NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 141 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GGTCACTTATGGGCATAAAAA 0.488 NSCLC(144;643 1919 24513 29423 40686) NA OREG0024576 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 45 0 0 0.001368 0 0 SFRS1 6426 broad.mit.edu 37 17 56082810 56082810 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:56082810G>A uc002ivi.2 - 4 913 c.704C>T c.(703-705)CCA>CTA p.P235L SFRS1_uc002ivj.2_3'UTR NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 235 Arg/Ser-rich (RS domain).|Interacts with SAFB1. Missing: In RS-C; loss of ability to activate splicing but retains splice site switching.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.|Missing: In RS-B; retains both splice activation and splice site switching activity. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) AGAATAGCGTGGTGATCCTCT 0.473 NA 68 191 0 0 0.00361 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281643 71281643 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:71281643C>A uc002jjn.2 - 2 1144 c.997G>T c.(997-999)GCT>TCT p.A333S CDC42EP4_uc002jjo.2_Missense_Mutation_p.A333S|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A263S NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 333 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GAGACAGCAGCCCGGGCCCTG 0.657 NA 28 81 3.73148e-12 5.54441e-12 0.007291 1 0 FOXK2 3607 broad.mit.edu 37 17 80543836 80543836 + Missense_Mutation SNP G G T rs139089969 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr17:80543836G>T uc002kfn.2 + 7 1507 c.1336G>T c.(1336-1338)GCC>TCC p.A446S FOXK2_uc002kfm.1_Missense_Mutation_p.A446S|FOXK2_uc010diu.2_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 446 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GCTACCACAGGCCATCAAGCC 0.587 NA 31 77 1.36615e-20 2.26493e-20 0.002836 1 0 ZNF521 25925 broad.mit.edu 37 18 22804575 22804575 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:22804575C>A uc002kvk.2 - 4 3554 c.3307G>T c.(3307-3309)GCC>TCC p.A1103S ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A1103S|ZNF521_uc002kvl.2_Missense_Mutation_p.A883S NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1103 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCTGGGCTGGCGCTCTTACTG 0.537 NA T PAX5 ALL 17 61 2.94398e-08 3.96305e-08 0.007413 1 0 CDH2 1000 broad.mit.edu 37 18 25572690 25572690 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:25572690C>G uc002kwg.2 - 9 1732 c.1273G>C c.(1273-1275)GGA>CGA p.G425R CDH2_uc010xbn.1_Missense_Mutation_p.G394R NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 425 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GTAGGATCTCCGCCACTGATT 0.522 NA 12 75 0 0 0.001855 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:7810766C>T uc002mht.2 - 4 453 c.386G>A c.(385-387)CGG>CAG p.R129Q CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 129 Extracellular (Probable).|2.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 AGCCTTCAGCCGGGTCAGCTC 0.567 NA 4 141 0 0 0.000602 0 0 CPAMD8 27151 broad.mit.edu 37 19 17100505 17100505 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:17100505T>A uc002nfb.2 - 13 1516 c.1484A>T c.(1483-1485)TAC>TTC p.Y495F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 448 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GCTGGGGGAGTACCAGCTGCC 0.587 NA 14 51 0 0 0.00245 0 0 ZNF382 84911 broad.mit.edu 37 19 37117917 37117917 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:37117917C>A uc002oek.2 + 5 1231 c.1118C>A c.(1117-1119)ACA>AAA p.T373K ZNF382_uc010efa.2_Missense_Mutation_p.T324K|ZNF382_uc010efb.2_Missense_Mutation_p.T372K|ZNF382_uc002oel.2_Missense_Mutation_p.T372K NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 373 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CATCACAAAACACATACGGGG 0.458 NA 9 61 0.000673444 0.000768605 0.008291 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41779913 41779913 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:41779913A>C uc002oqb.3 + 4 888 c.599A>C c.(598-600)GAA>GCA p.E200A CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.E100A|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.E100A|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E200A|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.E157A|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.E100A|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.E100A|HNRNPUL1_uc010eho.2_Missense_Mutation_p.E100A|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.E100A|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.E56A|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.E100A NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 200 B30.2/SPRY. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CCTCCTGCTGAAGAGGATGAA 0.433 NA 12 59 0 0 0.004007 0 0 ZNF221 7638 broad.mit.edu 37 19 44470922 44470922 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:44470922A>T uc002oxx.2 + 6 1596 c.1268A>T c.(1267-1269)AAA>ATA p.K423I ZNF221_uc010ejb.1_Missense_Mutation_p.K423I|ZNF221_uc010xws.1_Missense_Mutation_p.K423I NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 423 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) AAATCCTTCAAATGTGAAGAA 0.413 NA 10 36 0 0 0.000978 0 0 PTPRH 5794 broad.mit.edu 37 19 55713588 55713588 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:55713588T>A uc002qjq.2 - 6 1062 c.989A>T c.(988-990)TAC>TTC p.Y330F PTPRH_uc010esv.2_Missense_Mutation_p.Y152F|PTPRH_uc002qjs.2_Missense_Mutation_p.Y337F NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 330 Extracellular (Potential).|Fibronectin type-III 4. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTCAACCCCGTAGGTGGAGTT 0.582 NA 17 85 0 0 0.006122 0 0 AURKC 6795 broad.mit.edu 37 19 57746650 57746650 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:57746650G>T uc002qoe.2 + 7 984 c.795G>T c.(793-795)GGG>GGT p.G265G AURKC_uc002qoc.2_Silent_p.G246G|AURKC_uc002qod.2_Silent_p.G231G|AURKC_uc010etv.2_Silent_p.G262G NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 265 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TGCCTCTGGGGGCCCGGGACT 0.532 NA 9 22 2.17888e-05 2.68104e-05 0.006214 1 0 ZIK1 284307 broad.mit.edu 37 19 58102405 58102405 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:58102405G>T uc002qpg.2 + 4 1323 c.1226G>T c.(1225-1227)TGT>TTT p.C409F ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.C354F|ZIK1_uc002qpi.2_Missense_Mutation_p.C396F|ZIK1_uc002qpj.2_Missense_Mutation_p.C306F NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 409 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCTTATAAGTGTGGTGACTGT 0.458 NA 5 32 1.23904e-05 1.5366e-05 0.000602 1 0 ZIK1 284307 broad.mit.edu 37 19 58102412 58102412 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:58102412C>A uc002qpg.2 + 4 1330 c.1233C>A c.(1231-1233)GAC>GAA p.D411E ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.D356E|ZIK1_uc002qpi.2_Missense_Mutation_p.D398E|ZIK1_uc002qpj.2_Missense_Mutation_p.D308E NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 411 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGTGTGGTGACTGTGGGAAAT 0.448 NA 3 31 0.004672 0.00518197 0.004672 1 0 DDX1 1653 broad.mit.edu 37 2 15760486 15760486 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:15760486G>T uc002rce.2 + 17 1649 c.1361G>T c.(1360-1362)AGA>ATA p.R454I DDX1_uc010yjq.1_Missense_Mutation_p.R362I NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 454 Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AAAACTGACAGACTCTGGGAA 0.373 NA 7 25 0.000157383 0.000184984 0.00308 1 0 OTOF 9381 broad.mit.edu 37 2 26712109 26712109 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:26712109T>C uc002rhk.2 - 11 1142 c.1015A>G c.(1015-1017)ATG>GTG p.M339V NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 339 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCACGTCCATTTTGAAGGAG 0.622 GBM(102;732 1451 20652 24062 31372) NA 5 20 0 0 0.001984 0 0 EML4 27436 broad.mit.edu 37 2 42488428 42488428 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:42488428C>T uc002rsi.2 + 4 768 c.506C>T c.(505-507)ACC>ATC p.T169I EML4_uc002rsh.3_Missense_Mutation_p.T169I|EML4_uc010fap.2_Intron NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 169 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 GCTACTCCCACCAAAAGGTTT 0.433 NA T ALK NSCLC 12 108 0 0 0.003163 0 0 LRPPRC 10128 broad.mit.edu 37 2 44204415 44204415 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:44204415C>A uc002rtr.2 - 4 528 c.470G>T c.(469-471)GGT>GTT p.G157V LRPPRC_uc010yob.1_Missense_Mutation_p.G57V|LRPPRC_uc010faw.1_Missense_Mutation_p.G131V NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 157 PPR 1. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATACACAGCACCTACAAATGA 0.289 NA 12 35 4.3838e-07 5.6827e-07 0.001855 1 0 USP34 9736 broad.mit.edu 37 2 61516014 61516014 + Splice_Site SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:61516014T>G uc002sbe.2 - 34 4571 c.4549_splice c.e34-1 p.W1517_splice NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TAGCTGCCACTGTAAATGAGA 0.338 NA 13 52 0 0 0.004007 0 0 SPRED2 200734 broad.mit.edu 37 2 65571931 65571931 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:65571931C>A uc002sdr.3 - 2 661 c.126G>T c.(124-126)GGG>GGT p.G42G SPRED2_uc010fcw.2_Silent_p.G39G|SPRED2_uc010fcx.1_RNA NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 42 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 CCTTACAGACCCCGACGCGAC 0.542 NA 13 29 4.3838e-07 5.6827e-07 0.001855 1 0 REG1B 5968 broad.mit.edu 37 2 79313983 79313983 + Nonsense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:79313983G>T uc002sny.2 - 3 250 c.138C>A c.(136-138)TAC>TAA p.Y46* REG1B_uc010ffv.1_Nonsense_Mutation_p.Y46*|REG1B_uc010ffw.2_Nonsense_Mutation_p.Y46* NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 46 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 AGTAGTAGCAGTAGGAGCGAT 0.517 NA 37 107 3.61848e-18 5.96765e-18 0.007835 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530209 80530209 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:80530209C>A uc002sok.1 - 2 1006 c.736G>T c.(736-738)GCC>TCC p.A246S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 246 LRR 7.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 ACCACAATGGCCACCTTGTTC 0.587 NA HNSCC(69;0.2) 16 80 6.49762e-13 9.79306e-13 0.006122 1 0 POLR1A 25885 broad.mit.edu 37 2 86258460 86258460 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:86258460C>A uc002sqs.2 - 30 4950 c.4571G>T c.(4570-4572)TGG>TTG p.W1524L POLR1A_uc010ytb.1_Missense_Mutation_p.W890L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1524 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GACCTGGCACCACAGGCTCTC 0.657 NA 33 78 1.07637e-12 1.61455e-12 0.004878 1 0 GPR148 344561 broad.mit.edu 37 2 131487520 131487520 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:131487520C>T uc002trv.1 + 1 798 c.796C>T c.(796-798)CAC>TAC p.H266Y NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 266 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) CCTGCTGATCCACTCAGTGCT 0.567 NA 24 92 0 0 0.00632 0 0 POTEE 445582 broad.mit.edu 37 2 132021446 132021446 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:132021446C>T uc002tsn.2 + 15 2470 c.2418C>T c.(2416-2418)ACC>ACT p.T806T PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T406T|POTEE_uc002tsl.2_Silent_p.T388T|POTEE_uc010fmy.1_Silent_p.T270T NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 806 Actin-like. ATP binding 0 TCCTGCTGACCGAGGCCCCCC 0.597 NA 34 116 0 0 0.003214 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539542 133539542 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:133539542T>A uc002ttp.2 - 14 5216 c.4842A>T c.(4840-4842)AAA>AAT p.K1614N NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1614 protein binding 0 TGAAGGTGTCTTTCGTTGAAC 0.428 NA 23 59 0 0 0.001786 0 0 MGAT5 4249 broad.mit.edu 37 2 135107399 135107399 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:135107399C>T uc002ttv.1 + 9 1281 c.1136C>T c.(1135-1137)TCA>TTA p.S379L NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 379 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) GTCCTTGATTCATTTGGTACT 0.423 NA 11 77 0 0 0.000978 0 0 ACVR1C 130399 broad.mit.edu 37 2 158412698 158412698 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:158412698C>T uc002tzk.3 - 3 694 c.451G>A c.(451-453)GTG>ATG p.V151M ACVR1C_uc002tzl.3_Intron|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.V101M NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 151 Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 GGTTCCTCCACATTTGGTCTC 0.478 NA 7 25 0 0 0.00308 0 0 SCN3A 6328 broad.mit.edu 37 2 165947802 165947802 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:165947802G>C uc002ucx.2 - 28 5353 c.4861C>G c.(4861-4863)CGA>GGA p.R1621G SCN3A_uc010zcy.1_Missense_Mutation_p.R104G|SCN3A_uc002ucy.2_Missense_Mutation_p.R1572G|SCN3A_uc002ucz.2_Missense_Mutation_p.R1572G NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1621 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1621*(1) ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CGGATCACTCGGAACAAGGTA 0.448 NA 26 95 0 0 0.001786 0 0 CHRNA1 1134 broad.mit.edu 37 2 175614782 175614782 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:175614782C>G uc002ujd.2 - 8 1047 c.969G>C c.(967-969)ATG>ATC p.M323I uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M298I NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 323 Helical. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGGTGAACAGCATGTATTTTC 0.517 NA 14 94 0 0 0.003163 0 0 HOXD13 3239 broad.mit.edu 37 2 176957919 176957919 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:176957919G>C uc002ukf.1 + 1 388 c.301G>C c.(301-303)GCT>CCT p.A101P NM_000523 NP_000514 P35453 HXD13_HUMAN homeobox D13 101 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) GCGCCCGGAGGCTCCCCCAGC 0.672 NA T NUP98 AML* 9 17 0 0 0.001855 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178081586 178081586 + Splice_Site SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:178081586A>T uc002ulb.1 + 7 846 c.740_splice c.e7-2 p.G247_splice HNRNPA3_uc002ulc.1_Splice_Site_p.G247_splice|HNRNPA3_uc002uld.2_Splice_Site_p.G225_splice|HNRNPA3_uc002ule.2_Splice_Site_p.G24_splice NM_194247 NP_919223 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(2) 2 GTTTTTCCTCAGGAGGCTAtg 0.194 NA 9 31 0 0 0.004482 0 0 ANKRD44 91526 broad.mit.edu 37 2 197863664 197863664 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:197863664T>G uc002uua.1 - 24 2634 c.2557A>C c.(2557-2559)ATG>CTG p.M853L ANKRD44_uc002utz.3_Missense_Mutation_p.M585L NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 878 ANK 26. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCAGCAGCCATCATCAGTGCT 0.478 NA 16 40 0 0 0.006122 0 0 FAM126B 285172 broad.mit.edu 37 2 201857028 201857028 + Silent SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:201857028T>A uc002uws.3 - 10 995 c.807A>T c.(805-807)CTA>CTT p.L269L FAM126B_uc002uwu.2_Silent_p.L187L|FAM126B_uc002uwv.2_Silent_p.L269L NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 269 intracellular ovary(1) 1 AAAAAAGCTCTAGCTGGGCTC 0.338 NA 15 66 0 0 0.004007 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C A rs121913500 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:209113112C>A uc002vcs.2 - 4 641 c.395G>T c.(394-396)CGT>CTT p.R132L IDH1_uc002vct.2_Missense_Mutation_p.R132L|IDH1_uc002vcu.2_Missense_Mutation_p.R132L NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Pancreas(158;264 1958 3300 35450 36047) NA Mis gliobastoma 11 54 1.15088e-07 1.52965e-07 0.004007 1 0 ABCA12 26154 broad.mit.edu 37 2 215851332 215851332 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:215851332A>C uc002vew.2 - 28 4317 c.4097T>G c.(4096-4098)CTG>CGG p.L1366R ABCA12_uc002vev.2_Missense_Mutation_p.L1048R|ABCA12_uc010zjn.1_Missense_Mutation_p.L293R NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1366 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATAAAAGTTCAGATTGAGGTT 0.428 Ovarian(66;664 1488 5121 34295) NA 7 54 0 0 0.006214 0 0 CXCR2 3579 broad.mit.edu 37 2 218999803 218999803 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:218999803C>A uc002vgz.1 + 4 504 c.279C>A c.(277-279)GCC>GCA p.A93A CXCR2_uc002vha.1_Silent_p.A93A|CXCR2_uc002vhb.1_Silent_p.A93A NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 93 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 TAGCCTTGGCCGACCTACTCT 0.572 NA 26 107 8.58068e-18 1.40777e-17 0.007291 1 0 COL4A4 1286 broad.mit.edu 37 2 227945211 227945211 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:227945211C>A uc010zlt.1 - 24 2405 c.1751G>T c.(1750-1752)GGA>GTA p.G584V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 584 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCATGTGATCCTGGCTGCCC 0.473 NA 29 101 0.000339439 0.000396012 0.002096 1 0 KIF1A 547 broad.mit.edu 37 2 241685265 241685265 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:241685265C>A uc002vzy.2 - 29 3107 c.2961G>T c.(2959-2961)CTG>CTT p.L987L KIF1A_uc010fzk.2_Silent_p.L1088L|KIF1A_uc002vzz.1_Silent_p.L1088L NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 987 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGGCAGCATCCAGGGGCCCAT 0.622 NA 5 11 1.6384e-10 2.3566e-10 0.001984 1 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:29628283G>C uc010ztl.1 + 3 227 c.195G>C c.(193-195)GGG>GGC p.G65G FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Silent_p.G17G Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGAAGCAGGGGACATAGAAG 0.378 NA 4 73 0 0 0.004482 0 0 C20orf185 359710 broad.mit.edu 37 20 31644416 31644416 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:31644416C>A uc002wym.1 + 2 193 c.193C>A c.(193-195)CGG>AGG p.R65R NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 65 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 AGCTGTGAACCGGGGCCTCTT 0.607 NA 18 50 1.01871e-10 1.47878e-10 0.008871 1 0 DHX35 60625 broad.mit.edu 37 20 37597733 37597733 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr20:37597733G>A uc002xjh.2 + 2 61 c.50G>A c.(49-51)GGG>GAG p.G17E DHX35_uc010zwa.1_5'UTR|DHX35_uc010zwb.1_5'UTR|DHX35_uc010zwc.1_Missense_Mutation_p.G17E NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 17 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GGTACAGAGGGGCCAGGTGTA 0.403 NA 4 25 0 0 0.000248 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19698813 19698813 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:19698813G>T uc002ykw.2 - 16 1888 c.1857C>A c.(1855-1857)AAC>AAA p.N619K NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 619 Extracellular (Potential).|CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CCAACACATCGTTAGTGATGA 0.448 NA 31 81 1.22384e-17 1.99745e-17 0.002836 1 0 APP 351 broad.mit.edu 37 21 27327992 27327992 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:27327992G>A uc002ylz.2 - 12 1736 c.1536C>T c.(1534-1536)TTC>TTT p.F512F APP_uc011acg.1_Silent_p.F20F|APP_uc010glk.2_Silent_p.F488F|APP_uc002yma.2_Silent_p.F493F|APP_uc011ach.1_Silent_p.F456F|APP_uc002ymb.2_Silent_p.F437F|APP_uc010glj.2_Silent_p.F381F|APP_uc011aci.1_Silent_p.F402F NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 512 Heparin-binding.|Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) GCACATGCTCGAAATGCTTTA 0.493 NA 26 40 0 0 0.00632 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086663 39086663 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr21:39086663G>T uc011aej.1 - 3 850 c.797C>A c.(796-798)ACG>AAG p.T266K KCNJ6_uc002ywo.2_Missense_Mutation_p.T266K NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 266 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) GTCATCCCCCGTGTAATACCC 0.507 Pancreas(48;379 1118 2936 19024 28214) NA 29 70 1.06647e-15 1.69666e-15 0.003755 1 0 SERPIND1 3053 broad.mit.edu 37 22 21140420 21140420 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:21140420G>T uc002ztb.1 + 4 1359 c.1292G>T c.(1291-1293)AGG>ATG p.R431M PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.R459M NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 431 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TCAGACCAAAGGATCGCCATC 0.562 NA 9 111 0.000673444 0.000768605 0.008291 1 0 MYO18B 84700 broad.mit.edu 37 22 26294422 26294422 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:26294422A>G uc003abz.1 + 29 5067 c.4817A>G c.(4816-4818)CAG>CGG p.Q1606R MYO18B_uc003aca.1_Missense_Mutation_p.Q1487R|MYO18B_uc010guy.1_Missense_Mutation_p.Q1488R|MYO18B_uc010guz.1_Missense_Mutation_p.Q1486R|MYO18B_uc011aka.1_Missense_Mutation_p.Q760R|MYO18B_uc011akb.1_Missense_Mutation_p.Q1119R NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1606 Potential.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GAGAAGAAGCAGAAGAAGTGA 0.522 NA 8 80 0 0 0.006214 0 0 MCM5 4174 broad.mit.edu 37 22 35817363 35817363 + Nonsense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr22:35817363C>T uc003anu.3 + 15 1979 c.1885C>T c.(1885-1887)CAG>TAG p.Q629* MCM5_uc010gwr.2_Nonsense_Mutation_p.Q438*|MCM5_uc003anv.3_Nonsense_Mutation_p.Q586*|MCM5_uc003anw.1_Nonsense_Mutation_p.Q413* NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 629 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 GATGAAGCTGCAGCCCTTCGC 0.622 NA 16 67 0 0 0.00499 0 0 ATP2B2 491 broad.mit.edu 37 3 10381930 10381930 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:10381930C>A uc003bvt.2 - 21 3672 c.3233G>T c.(3232-3234)GGC>GTC p.G1078V ATP2B2_uc003bvv.2_Missense_Mutation_p.G1033V|ATP2B2_uc003bvw.2_Missense_Mutation_p.G1033V|ATP2B2_uc010hdo.2_Missense_Mutation_p.G783V NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 1078 Helical; (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 ACTTACCTGGCCCCAAACGAG 0.572 Ovarian(125;1619 1709 15675 19819 38835) NA 6 42 1.76689e-08 2.39901e-08 0.006214 1 0 ANKRD28 23243 broad.mit.edu 37 3 15762612 15762612 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:15762612C>T uc003caj.1 - 8 859 c.716G>A c.(715-717)GGA>GAA p.G239E ANKRD28_uc003cai.1_Missense_Mutation_p.G85E|ANKRD28_uc011avz.1_Missense_Mutation_p.G85E|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.G269E|ANKRD28_uc003cam.2_Missense_Mutation_p.G272E NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 239 ANK 7. nucleoplasm protein binding breast(1) 1 AGGTGTATTTCCATAGGCATT 0.338 NA 17 195 0 0 0.007413 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917206 42917206 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:42917206G>T uc003cmh.2 - 1 428 c.103C>A c.(103-105)CTG>ATG p.L35M CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.L35M NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 35 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CCCTTGTCCAGAGGGGGCTCC 0.582 NA 8 38 1.12685e-05 1.40856e-05 0.004482 1 0 SEMA3B 7869 broad.mit.edu 37 3 50313211 50313211 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:50313211C>T uc003cyu.2 + 18 2023 c.1781C>T c.(1780-1782)CCC>CTC p.P594L SEMA3B_uc003cyt.2_Missense_Mutation_p.P593L|SEMA3B_uc003cyv.2_Missense_Mutation_p.P481L|SEMA3B_uc003cyw.2_Missense_Mutation_p.P317L|SEMA3B_uc010hli.2_Missense_Mutation_p.P486L|SEMA3B_uc003cyx.2_Missense_Mutation_p.P480L|SEMA3B_uc003cyy.2_Missense_Mutation_p.P251L|SEMA3B_uc011bdo.1_Missense_Mutation_p.P251L NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 594 Ig-like C2-type. axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GAGTGTGAGCCCCGCTCGCTG 0.657 NA 4 23 0 0 0.001168 0 0 EAF2 55840 broad.mit.edu 37 3 121591442 121591442 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:121591442T>A uc003een.2 + 5 642 c.543T>A c.(541-543)GAT>GAA p.D181E EAF2_uc003eeo.2_Missense_Mutation_p.D51E NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 181 Ser-rich.|Necessary for transactivation activity. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) GTTCATCAGATTCCAAAAGTT 0.358 Esophageal Squamous(194;1942 2097 24663 29345 31866) NA 21 106 0 0 0.004656 0 0 ALG1L 200810 broad.mit.edu 37 3 125652457 125652457 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:125652457C>T uc003eig.1 - 2 225 c.61G>A c.(61-63)GAG>AAG p.E21K NM_001015050 NP_001015050 Q6GMV1 ALG1L_HUMAN asparagine-linked glycosylation 1-like 21 transferase activity, transferring glycosyl groups 0 GCTGGCCACTCGCGGAGATGC 0.622 NA 4 25 0 0 0.000602 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125854472 125854472 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:125854472C>A uc003eim.1 - 12 1568 c.1378G>T c.(1378-1380)GAC>TAC p.D460Y ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D359Y|ALDH1L1_uc003eio.2_Missense_Mutation_p.D162Y|ALDH1L1_uc010hsf.1_Missense_Mutation_p.D486Y NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 460 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTGTCGACGTCGGTGACTTGG 0.597 NA 6 50 0.00198382 0.00223979 0.001984 1 0 PLSCR4 57088 broad.mit.edu 37 3 145938688 145938688 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:145938688T>A uc010huy.2 - 3 361 c.32A>T c.(31-33)CAG>CTG p.Q11L PLSCR4_uc010huz.2_Missense_Mutation_p.Q11L|PLSCR4_uc003evt.3_Missense_Mutation_p.Q11L|PLSCR4_uc010hva.2_Missense_Mutation_p.Q11L|PLSCR4_uc003evu.3_5'UTR NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 11 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 ACCTGCAGGCTGTTCAGGGGC 0.403 NA 6 20 0 0 0.001984 0 0 ZIC1 7545 broad.mit.edu 37 3 147128206 147128206 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:147128206C>T uc003ewe.2 + 1 1026 c.307C>T c.(307-309)CGC>TGC p.R103C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 103 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CTTTCTGTTCCGCAACCGGGG 0.697 NA 4 28 0 0 0.000248 0 0 GPR171 29909 broad.mit.edu 37 3 150917131 150917131 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:150917131C>G uc003eyq.3 - 3 283 c.43G>C c.(43-45)GAG>CAG p.E15Q MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_013308 NP_037440 O14626 GP171_HUMAN G protein-coupled receptor 171 15 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGAATGGCTCCAGATCTTTA 0.348 NA 7 31 0 0 0.00308 0 0 SI 6476 broad.mit.edu 37 3 164754207 164754207 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:164754207C>A uc003fei.2 - 22 2547 c.2485G>T c.(2485-2487)GAC>TAC p.D829Y NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 829 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGAAAAAGTCTCCTTTGGCT 0.348 NA HNSCC(35;0.089) 9 38 2.80697e-09 3.94731e-09 0.000978 1 0 WDR49 151790 broad.mit.edu 37 3 167240120 167240120 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:167240120T>C uc003fev.1 - 12 2007 c.1701A>G c.(1699-1701)AAA>AAG p.K567K WDR49_uc003feu.1_Silent_p.K392K|WDR49_uc011bpd.1_Silent_p.K532K|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 567 large_intestine(1)|ovary(1)|skin(1) 3 TTGAGTCATCTTTGTTTTTCT 0.199 NA 3 31 0 0 0.000602 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572221 186572221 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:186572221C>T uc003fra.2 + 3 547 c.463C>T c.(463-465)CCT>TCT p.P155S ADIPOQ_uc010hyy.2_Missense_Mutation_p.P155S NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 155 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CTGCAACATTCCTGGGCTGTA 0.443 NA 8 66 0 0 0.008291 0 0 SLIT2 9353 broad.mit.edu 37 4 20469408 20469408 + Silent SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:20469408A>T uc003gpr.1 + 5 633 c.429A>T c.(427-429)CCA>CCT p.P143P SLIT2_uc003gps.1_Silent_p.P143P NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 143 LRR 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGGCAATCCCAAGGAAAGCTT 0.274 NA 5 21 0 0 0.001168 0 0 AASDH 132949 broad.mit.edu 37 4 57215650 57215650 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:57215650T>A uc003hbn.2 - 11 2420 c.2267A>T c.(2266-2268)CAT>CTT p.H756L AASDH_uc010ihb.2_Missense_Mutation_p.H271L|AASDH_uc011caa.1_Missense_Mutation_p.H603L|AASDH_uc003hbo.2_Missense_Mutation_p.H656L|AASDH_uc011cab.1_Missense_Mutation_p.H271L|AASDH_uc010ihc.2_Missense_Mutation_p.H756L|AASDH_uc003hbp.2_Missense_Mutation_p.H756L NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 756 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CCACCTCACATGTAACTCCAT 0.433 NA 14 81 0 0 0.003163 0 0 EPHA5 2044 broad.mit.edu 37 4 66242723 66242724 + Missense_Mutation DNP GG GG CT TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:66242723_66242724GG>CT uc003hcy.2 - 9 2041_2042 c.1848_1849CC>AG c.(1846-1851)AGCCTA>AGAGTA p.616_617SL>RV EPHA5_uc003hcx.2_Missense_Mutation_p.548_549SL>RV|EPHA5_uc003hcz.2_Intron|EPHA5_uc011cah.1_Missense_Mutation_p.617_618SL>RV|EPHA5_uc011cai.1_Intron|EPHA5_uc003hda.2_Missense_Mutation_p.617_618SL>RV NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 616_617 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AACCATATTAGGCTTGGATGGG 0.47 NA TSP Lung(17;0.13) 3 23 0 0 0.004672 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86491764 86491764 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:86491764G>T uc003hpk.2 + 2 519 c.70G>T c.(70-72)GGG>TGG p.G24W ARHGAP24_uc003hpi.1_Missense_Mutation_p.G24W|ARHGAP24_uc003hpj.2_Missense_Mutation_p.G24W NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 24 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CATCAAGTGTGGGTGGCTGAG 0.488 NA 7 44 0.00307968 0.00346464 0.00308 1 0 Unknown 0 broad.mit.edu 37 4 88815044 88815044 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:88815044C>A uc010iko.1 + 4 1671 c.1671C>A c.(1669-1671)ATC>ATA p.I557I SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA; NA ACCACATGATCAAGCTAGGTC 0.527 NA 40 160 1.22674e-20 2.04457e-20 0.00874 1 0 KIAA1109 84162 broad.mit.edu 37 4 123175486 123175486 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:123175486C>G uc003ieh.2 + 36 6104 c.6059C>G c.(6058-6060)ACA>AGA p.T2020R KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Missense_Mutation_p.T639R NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2020 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGATCTCACACACATGCATTT 0.323 NA 8 34 0 0 0.006214 0 0 ADAD1 132612 broad.mit.edu 37 4 123329128 123329128 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:123329128G>T uc003ieo.2 + 8 1022 c.790G>T c.(790-792)GAT>TAT p.D264Y ADAD1_uc003iep.2_Missense_Mutation_p.D264Y|ADAD1_uc003ieq.2_Missense_Mutation_p.D246Y NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 264 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 CATTAAGCCAGATGGAAGAGT 0.378 NA 12 65 9.31168e-06 1.17327e-05 0.001855 1 0 PCDH10 57575 broad.mit.edu 37 4 134073431 134073431 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:134073431A>G uc003iha.2 + 1 2962 c.2136A>G c.(2134-2136)CTA>CTG p.L712L PCDH10_uc003igz.2_Silent_p.L712L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 712 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AAACCTCGCTAGACCTCACCC 0.542 NA 10 64 0 0 0.001368 0 0 NPY2R 4887 broad.mit.edu 37 4 156135716 156135716 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:156135716G>T uc003ioq.2 + 2 1120 c.625G>T c.(625-627)GGC>TGC p.G209C NPY2R_uc003ior.2_Missense_Mutation_p.G209C NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 209 Extracellular (Potential). G -> A (in Ref. 4; AAB07760). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) AAAGTGGCCTGGCGAGGAGAA 0.488 NA 25 110 2.08457e-15 3.28319e-15 0.002096 1 0 ANP32C 23520 broad.mit.edu 37 4 165118535 165118535 + Missense_Mutation SNP T T G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr4:165118535T>G uc011cjk.1 - 1 329 c.329A>C c.(328-330)AAC>ACC p.N110T MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 110 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) GCTCTTGAGGTTTTCTAACTG 0.423 NA 18 60 0 0 0.008871 0 0 MED10 84246 broad.mit.edu 37 5 6374488 6374488 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:6374488C>A uc003jdo.2 - 3 301 c.258G>T c.(256-258)GAG>GAT p.E86D NM_032286 NP_115662 Q9BTT4 MED10_HUMAN mediator complex subunit 10 86 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(1) 1 CTAGAGCCCTCTCCAGGCACT 0.423 NA 60 72 2.84776e-26 4.84888e-26 0.00361 1 0 PRDM9 56979 broad.mit.edu 37 5 23522423 23522423 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:23522423G>A uc003jgo.2 + 7 701 c.519G>A c.(517-519)AAG>AAA p.K173K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 173 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AACTCAGGAAGAAGGAGACTG 0.428 NA HNSCC(3;0.000094) 39 80 0 0 0.003214 0 0 CDH6 1004 broad.mit.edu 37 5 31267710 31267710 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:31267710A>C uc003jhe.1 + 2 456 c.130A>C c.(130-132)AGC>CGC p.S44R CDH6_uc003jhd.1_Missense_Mutation_p.S44R NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 44 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CTCTGGAAACAGCAAAAATGA 0.488 NA 29 36 0 0 0.002096 0 0 PAIP1 10605 broad.mit.edu 37 5 43535667 43535667 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:43535667C>G uc003job.2 - 7 1295 c.1048G>C c.(1048-1050)GAA>CAA p.E350Q PAIP1_uc003joa.2_Missense_Mutation_p.E271Q|PAIP1_uc010ivp.2_Missense_Mutation_p.E271Q|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E238Q NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 350 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ACAACGTTTTCAATTCTCTGA 0.348 NA 11 18 0 0 0.001855 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54649077 54649077 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:54649077G>T uc003jpy.3 + 14 1779 c.1513G>T c.(1513-1515)GAT>TAT p.D505Y SKIV2L2_uc011cqi.1_Missense_Mutation_p.D404Y NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CCGCAAATTTGATGGGAAGGA 0.338 Melanoma(2;92 134 23744 29976 33782) NA 22 42 6.44725e-10 9.1071e-10 0.002299 1 0 IL13 3596 broad.mit.edu 37 5 131995902 131995902 + Silent SNP C C A rs78628956 by1000genomes TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:131995902C>A uc003kxj.1 + 4 383 c.369C>A c.(367-369)ATC>ATA p.I123I NM_002188 NP_002179 P35225 IL13_HUMAN interleukin 13 precursor 123 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity ovary(1)|skin(1) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACACCAAAATCGAGGTGGCCC 0.468 NA 3 37 0.004672 0.00518197 0.004672 1 0 SPOCK1 6695 broad.mit.edu 37 5 136324183 136324183 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:136324183T>A uc003lbo.2 - 7 1047 c.856A>T c.(856-858)AAC>TAC p.N286Y SPOCK1_uc003lbp.2_Missense_Mutation_p.N286Y NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 286 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCACACGAGTTGAAAAGAGGC 0.498 NA 6 93 0 0 0.001984 0 0 TMCO6 55374 broad.mit.edu 37 5 140023455 140023455 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:140023455C>A uc003lgl.2 + 9 1110 c.1009C>A c.(1009-1011)CGT>AGT p.R337S TMCO6_uc003lgm.2_Missense_Mutation_p.R343S|TMCO6_uc010jft.2_Missense_Mutation_p.R97S|TMCO6_uc003lgn.2_Missense_Mutation_p.R228S|TMCO6_uc003lgo.2_Missense_Mutation_p.R97S NM_018502 NP_060972 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 337 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGATGAGCGTGTTGTGGC 0.537 NA 23 32 1.66031e-10 2.37726e-10 0.003954 1 0 PCDHA8 56140 broad.mit.edu 37 5 140222139 140222139 + Silent SNP C C T rs147149527 byFrequency TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:140222139C>T uc003lhs.2 + 1 1233 c.1233C>T c.(1231-1233)AGC>AGT p.S411S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.S411S NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 411 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACAGCGCCCTGGACC 0.627 NA 6 216 0 0 0.007291 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752183 140752183 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:140752183C>A uc003ljw.1 + 1 2222 c.2222C>A c.(2221-2223)CCC>CAC p.P741H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.P741H|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 741 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGTTCTCCCCACCTACAGC 0.498 NA 13 40 3.27435e-08 4.38903e-08 0.00245 1 0 GALNT10 55568 broad.mit.edu 37 5 153783767 153783767 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:153783767C>G uc003lvh.2 + 8 1292 c.1160C>G c.(1159-1161)GCC>GGC p.A387G GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.A228G|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.A58G NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 387 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GTCAGCCTGGCCCGGGTAAGG 0.617 NA 9 7 0 0 0.006214 0 0 SLIT3 6586 broad.mit.edu 37 5 168233578 168233578 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr5:168233578G>T uc003mab.2 - 9 1228 c.808C>A c.(808-810)CCC>ACC p.P270T SLIT3_uc010jjg.2_Missense_Mutation_p.P270T|SLIT3_uc010jji.2_Missense_Mutation_p.P270T|SLIT3_uc003mac.1_Missense_Mutation_p.P67T NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 270 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGATGGGGGCTCCGAGTGG 0.572 Ovarian(29;311 847 10864 17279 24903) NA 6 75 0.000157383 0.000184984 0.00308 1 0 RIPK1 8737 broad.mit.edu 37 6 3083425 3083425 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:3083425C>T uc010jni.2 + 5 798 c.566C>T c.(565-567)ACC>ATC p.T189I RIPK1_uc003muv.3_Missense_Mutation_p.T26I|RIPK1_uc003muw.3_Missense_Mutation_p.T124I|RIPK1_uc011dhs.1_Missense_Mutation_p.T143I|RIPK1_uc003mux.2_Missense_Mutation_p.T189I NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 189 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) AATGGCGGCACCCTCTACTAC 0.522 NA 10 56 0 0 0.008291 0 0 PRPF4B 8899 broad.mit.edu 37 6 4037669 4037669 + Missense_Mutation SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:4037669G>C uc003mvv.2 + 3 1368 c.1277G>C c.(1276-1278)AGA>ACA p.R426T PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 426 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGACGTGAAAGATCAAAAGAT 0.408 NA 3 48 0 0 0.001984 0 0 PGBD1 84547 broad.mit.edu 37 6 28269741 28269741 + Missense_Mutation SNP A A T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:28269741A>T uc003nky.2 + 7 2480 c.2110A>T c.(2110-2112)ATA>TTA p.I704L PGBD1_uc003nkz.2_Missense_Mutation_p.I704L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 704 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TGCTGTGGGCATAGAACCAGT 0.403 NA 19 132 0 0 0.002299 0 0 EHMT2 10919 broad.mit.edu 37 6 31848493 31848493 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:31848493C>T uc003nxz.1 - 27 3419 c.3409G>A c.(3409-3411)GCC>ACC p.A1137T EHMT2_uc003nxv.1_Missense_Mutation_p.A176T|EHMT2_uc003nxw.1_Missense_Mutation_p.A176T|EHMT2_uc003nxx.1_Missense_Mutation_p.A335T|EHMT2_uc003nxy.1_Missense_Mutation_p.A935T|EHMT2_uc011don.1_Missense_Mutation_p.A1160T|EHMT2_uc003nya.1_Missense_Mutation_p.A1103T|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dom.1_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1137 SET. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CTGAAGAAGGCGATGCGTGGA 0.582 NA 4 56 0 0 0.000602 0 0 C6orf106 64771 broad.mit.edu 37 6 34614502 34614502 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:34614502C>G uc003ojr.2 - 3 632 c.387G>C c.(385-387)GTG>GTC p.V129V C6orf106_uc003ojs.2_Intron NM_024294 NP_077270 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 isoform a 129 skin(2)|ovary(1) 3 ATCTCACCATCACCATGTTCA 0.517 NA 38 156 0 0 0.002222 0 0 FBXL4 26235 broad.mit.edu 37 6 99374724 99374724 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:99374724G>A uc003ppf.1 - 3 499 c.141C>T c.(139-141)CTC>CTT p.L47L FBXL4_uc003ppg.1_Silent_p.L47L|FBXL4_uc003pph.1_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 47 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CCTCTGCATTGAGAGGGGAAG 0.438 NA 27 99 0 0 0.002096 0 0 SYNE1 23345 broad.mit.edu 37 6 152685991 152685991 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:152685991C>A uc010kiw.2 - 63 10738 c.10136G>T c.(10135-10137)CGT>CTT p.R3379L SYNE1_uc003qot.3_Missense_Mutation_p.R3386L|SYNE1_uc003qou.3_Missense_Mutation_p.R3379L|SYNE1_uc010kja.1_Missense_Mutation_p.R84L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3379 Spectrin 7.|HAT 6.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTTTTACAACGAATCCCTGC 0.448 NA HNSCC(10;0.0054) 12 32 0.00010058 0.000120466 0.001368 1 0 C6orf118 168090 broad.mit.edu 37 6 165715076 165715076 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:165715076G>T uc003qum.3 - 2 771 c.735C>A c.(733-735)CAC>CAA p.H245Q C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 245 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GCTTTCTCTCGTGGCCCGCGG 0.602 NA 10 49 6.40141e-05 7.7855e-05 0.000978 1 0 CARD11 84433 broad.mit.edu 37 7 2985479 2985479 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:2985479G>T uc003smv.2 - 4 736 c.332C>A c.(331-333)CCC>CAC p.P111H NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 111 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCTCCGAGTGGGCTCTTTCCC 0.423 NA Mis DLBCL 27 170 3.1745e-13 4.85421e-13 0.008361 1 0 CCDC129 223075 broad.mit.edu 37 7 31682641 31682641 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:31682641G>T uc003tcj.1 + 11 2650 c.1657G>T c.(1657-1659)GTC>TTC p.V553F CCDC129_uc011kad.1_Missense_Mutation_p.V563F|CCDC129_uc003tci.1_Missense_Mutation_p.V404F|CCDC129_uc011kae.1_Missense_Mutation_p.V579F|CCDC129_uc003tck.1_Missense_Mutation_p.V461F NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 553 0 TGAGTATGAGGTCACCAGACC 0.547 NA 32 118 4.62619e-21 7.79278e-21 0.004289 1 0 SEMA3A 10371 broad.mit.edu 37 7 83739879 83739879 + Silent SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:83739879T>A uc003uhz.2 - 4 675 c.360A>T c.(358-360)GTA>GTT p.V120V NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 120 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ATGCCTTAAGTACCTTGATGA 0.428 NA 13 58 0 0 0.004007 0 0 DLX6 1750 broad.mit.edu 37 7 96639143 96639143 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:96639143T>C uc003uom.2 + 4 582 c.582T>C c.(580-582)TTT>TTC p.F194F DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 104 Homeobox. nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCTCTAAGTTTAAGAAACTGC 0.542 NA 8 43 0 0 0.004482 0 0 SRRT 51593 broad.mit.edu 37 7 100481745 100481745 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:100481745G>C uc003uwy.2 + 7 910 c.642G>C c.(640-642)CGG>CGC p.R214R SRRT_uc010lhl.1_Silent_p.R214R|SRRT_uc003uxa.2_Silent_p.R214R|SRRT_uc003uwz.2_Silent_p.R214R NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 214 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 AGGAGGCCCGGGGGGCCCTGC 0.557 NA 11 49 0 0 0.001368 0 0 GCC1 79571 broad.mit.edu 37 7 127222755 127222755 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:127222755C>T uc003vma.2 - 2 2059 c.1641G>A c.(1639-1641)CAG>CAA p.Q547Q NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 547 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 CATCAGCCTCCTGCTGGTGTT 0.622 NA 9 54 0 0 0.008291 0 0 C7orf45 136263 broad.mit.edu 37 7 129855958 129855958 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:129855958G>T uc003vpp.2 + 3 430 c.383G>T c.(382-384)CGA>CTA p.R128L NM_145268 NP_660311 Q8WWF3 CG045_HUMAN hypothetical protein LOC136263 128 integral to membrane 0 Melanoma(18;0.0435) GAACAAAGACGAGCCAGGCGC 0.483 NA 6 31 5.18039e-06 6.55351e-06 0.00308 1 0 PLXNA4 91584 broad.mit.edu 37 7 131887528 131887528 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:131887528G>A uc003vra.3 - 12 2692 c.2463C>T c.(2461-2463)TTC>TTT p.F821F NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 821 PSI 3.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 AGCCACATGCGAAGTCTGGGT 0.637 NA 6 17 0 0 0.001168 0 0 TRY6 154754 broad.mit.edu 37 7 142480037 142480037 + Missense_Mutation SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:142480037T>A uc011ksq.1 + 2 252 c.169T>A c.(169-171)TGG>AGG p.W57R uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 CAGCGAACAGTGGGTGGTGTC 0.587 NA 14 77 0 0 0.00499 0 0 Unknown 0 broad.mit.edu 37 7 142510289 142510289 + Missense_Mutation SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr7:142510289T>C uc003wbp.2 - 2 429 c.317A>G c.(316-318)TAT>TGT p.Y106C SubName: Full=V_segment translation product; Flags: Fragment; NA GGCACAGAGATAGAAGCCAGA 0.567 NA 3 19 0 0 0.001984 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22865579 22865579 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:22865579G>A uc003xcq.2 + 6 2112 c.1575G>A c.(1573-1575)ATG>ATA p.M525I RHOBTB2_uc003xcp.2_Missense_Mutation_p.M547I|RHOBTB2_uc011kzp.1_Missense_Mutation_p.M532I|uc003xcr.2_RNA NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 525 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GTGACTGGATGGCTGCCATGT 0.557 NA 8 53 0 0 0.00308 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744391 70744391 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:70744391C>A uc003xyl.2 - 2 1225 c.518G>T c.(517-519)TGC>TTC p.C173F SLCO5A1_uc010lzb.2_Missense_Mutation_p.C173F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C173F|SLCO5A1_uc010lzc.2_Missense_Mutation_p.C173F NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 173 Helical; Name=2; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GATGTCAAAGCAGCTGACCAG 0.612 NA 8 41 1.12685e-05 1.40856e-05 0.004482 1 0 TRPA1 8989 broad.mit.edu 37 8 72975766 72975766 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:72975766C>G uc003xza.2 - 5 768 c.593G>C c.(592-594)GGA>GCA p.G198A NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 198 ANK 5.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AGGGAAACATCCCCATTTATT 0.363 NA 15 34 0 0 0.008871 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761908 77761908 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:77761908A>G uc003yav.2 + 8 4058 c.3671A>G c.(3670-3672)CAC>CGC p.H1224R ZFHX4_uc003yau.1_Missense_Mutation_p.H1269R|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1224R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1224 C2H2-type 9. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACGCATTTGCACAGTGTGTCT 0.463 NA HNSCC(33;0.089) 6 27 0 0 0.00308 0 0 ZFAND1 79752 broad.mit.edu 37 8 82626195 82626195 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr8:82626195C>T uc003ycj.1 - 6 452 c.438G>A c.(436-438)ATG>ATA p.M146I ZFAND1_uc010lzx.1_Missense_Mutation_p.M146I|ZFAND1_uc003yck.1_Missense_Mutation_p.M39I NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 146 zinc ion binding ovary(1) 1 TCTTTAATTTCATCAATGCAA 0.308 NA 3 51 0 0 0.000248 0 0 GLDC 2731 broad.mit.edu 37 9 6587243 6587243 + Missense_Mutation SNP A A C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:6587243A>C uc003zkc.2 - 15 1941 c.1748T>G c.(1747-1749)GTG>GGG p.V583G NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 583 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATCCAGAGGCACAAAGGGGTG 0.363 NA 11 53 0 0 0.00245 0 0 KIAA1797 54914 broad.mit.edu 37 9 20929593 20929593 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:20929593C>G uc003zog.1 + 29 3678 c.3315C>G c.(3313-3315)CTC>CTG p.L1105L KIAA1797_uc003zoh.1_Silent_p.L541L NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1105 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) AAGAGAAACTCAGGTACAGTT 0.403 NA 5 51 0 0 0.001984 0 0 SMU1 55234 broad.mit.edu 37 9 33053211 33053211 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:33053211G>C uc003zsf.1 - 10 1308 c.1200C>G c.(1198-1200)GTC>GTG p.V400V SMU1_uc010mjo.1_Silent_p.V400V|SMU1_uc010mjp.1_Intron|SMU1_uc011lnu.1_Silent_p.V239V NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog 400 WD 5. cytoplasm|nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TCACACTGTTGACGGTAATAT 0.443 NA 14 70 0 0 0.00245 0 0 FRMPD1 22844 broad.mit.edu 37 9 37735585 37735585 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:37735585G>A uc004aag.1 + 13 1299 c.1255G>A c.(1255-1257)GGA>AGA p.G419R FRMPD1_uc004aah.1_Missense_Mutation_p.G419R|FRMPD1_uc011lqm.1_Missense_Mutation_p.G241R|FRMPD1_uc011lqn.1_Missense_Mutation_p.G288R NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 419 FERM. cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CCTTCTAGTTGGAGCCAAGTA 0.443 NA 12 65 0 0 0.00245 0 0 TLE1 7088 broad.mit.edu 37 9 84208062 84208062 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:84208062C>T uc004aly.2 - 15 1900 c.1459G>A c.(1459-1461)GTG>ATG p.V487M TLE1_uc004alz.2_Missense_Mutation_p.V497M|TLE1_uc011lsr.1_Missense_Mutation_p.V472M|TLE1_uc004ama.1_Missense_Mutation_p.V486M NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 487 WD 1. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 ACAGCGCACACCACCTCCCCG 0.637 NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA 44 129 0 0 0.00361 0 0 C9orf79 286234 broad.mit.edu 37 9 90501513 90501513 + Missense_Mutation SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:90501513A>G uc004app.3 + 4 2146 c.2111A>G c.(2110-2112)GAC>GGC p.D704G C9orf79_uc004apo.1_Missense_Mutation_p.D516G NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 704 integral to membrane ovary(3) 3 AGGTTCTCTGACAAGGGGTGC 0.597 NA 19 44 0 0 0.001882 0 0 SPTAN1 6709 broad.mit.edu 37 9 131390214 131390214 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:131390214C>G uc004bvl.3 + 50 6798 c.6685C>G c.(6685-6687)CTC>GTC p.L2229V SPTAN1_uc004bvm.3_Missense_Mutation_p.L2234V|SPTAN1_uc004bvn.3_Missense_Mutation_p.L2209V|SPTAN1_uc010mye.1_3'UTR|SPTAN1_uc010myf.1_Missense_Mutation_p.L58V|SPTAN1_uc004bvo.3_5'Flank NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2229 Spectrin 23. 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 GACATACCTCCTCGATGGGTT 0.567 NSCLC(120;833 1744 2558 35612 37579) NA 37 453 0 0 0.00623 0 0 ZDHHC12 84885 broad.mit.edu 37 9 131484063 131484063 + Missense_Mutation SNP G G T rs113339803 TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:131484063G>T uc004bvy.2 - 4 385 c.349C>A c.(349-351)CGC>AGC p.R117S ZDHHC12_uc004bvz.2_Missense_Mutation_p.R172S NM_032799 NP_116188 Q96GR4 ZDH12_HUMAN zinc finger, DHHC domain containing 12 117 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding 0 ACGCAACGGCGGCACTCACGG 0.662 NA 19 75 2.27731e-05 2.79125e-05 0.001882 1 0 BAT2L1 84726 broad.mit.edu 37 9 134308112 134308112 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:134308112C>G uc004can.3 + 2 279 c.224C>G c.(223-225)CCC>CGC p.P75R BAT2L1_uc004cam.1_Missense_Mutation_p.P75R NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 75 protein binding 0 GGAAACGACCCCAACATCGTG 0.557 NA 4 56 0 0 0.000248 0 0 KCNT1 57582 broad.mit.edu 37 9 138651666 138651666 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr9:138651666C>G uc011mdq.1 + 11 1070 c.996C>G c.(994-996)GTC>GTG p.V332V KCNT1_uc011mdr.1_Silent_p.V159V|KCNT1_uc010nbf.2_Silent_p.V287V|KCNT1_uc004cgo.1_Silent_p.V81V NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 332 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGCTGGTGGTCATCATGATCT 0.632 NA 5 27 0 0 0.001984 0 0 ARSH 347527 broad.mit.edu 37 X 2947329 2947329 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:2947329G>T uc011mhj.1 + 8 1241 c.1241G>T c.(1240-1242)AGG>ATG p.R414M NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 414 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTGGAAGGAAGGGCGTCCCAC 0.547 NA 15 96 1.02788e-11 1.51301e-11 0.00499 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337344 13337344 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:13337344C>A uc010ned.2 - 1 1175 c.710G>T c.(709-711)CGC>CTC p.R237L NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 237 UIM 1. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.R237H(1) lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 GGTTTCTTGGCGGCTTAGTTC 0.423 NA 37 208 1.59361e-14 2.48508e-14 0.006999 1 0 RAI2 10742 broad.mit.edu 37 X 17818601 17818601 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:17818601G>T uc004cyf.2 - 3 2100 c.1530C>A c.(1528-1530)TCC>TCA p.S510S RAI2_uc004cyg.2_Silent_p.S510S|RAI2_uc010nfa.2_Silent_p.S510S|RAI2_uc004cyh.3_Silent_p.S510S|RAI2_uc011miy.1_Silent_p.S460S NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 510 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GTATTTCCTGGGAGTTCACTT 0.403 NA 54 277 1.07796e-43 1.84541e-43 0.00361 1 0 PDHA1 5160 broad.mit.edu 37 X 19377734 19377734 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:19377734G>T uc004czg.3 + 11 1281 c.1136G>T c.(1135-1137)GGT>GTT p.G379V PDHA1_uc004czh.3_Missense_Mutation_p.G414V|PDHA1_uc011mjc.1_Missense_Mutation_p.G383V|PDHA1_uc011mjd.1_Missense_Mutation_p.G345V|PDHA1_uc010nfk.2_Missense_Mutation_p.G317V|PDHA1_uc010nfl.2_Missense_Mutation_p.G170V NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 379 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) GAAGTTCGTGGTGCCAATCAG 0.512 NA 10 61 1.5842e-08 2.1887e-08 0.001855 1 0 PHEX 5251 broad.mit.edu 37 X 22244559 22244559 + Splice_Site SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:22244559G>A uc004dah.2 + 19 2103 c.1900_splice c.e19-1 p.V634_splice PHEX_uc011mjr.1_Splice_Site_p.V634_splice|PHEX_uc011mjs.1_Splice_Site_p.V537_splice NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 CTTTCTGTTAGGTCAAGGGGA 0.393 NA 9 66 0 0 0.004482 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260717 30260717 + Silent SNP T T A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:30260717T>A uc004dcb.2 + 1 549 c.465T>A c.(463-465)TCT>TCA p.S155S MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 155 MAGE. ovary(1) 1 GGAAAGTCTCTCAGCGCACGG 0.498 NA 7 23 0 0 0.001984 0 0 FAM47C 442444 broad.mit.edu 37 X 37026574 37026574 + Missense_Mutation SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:37026574G>A uc004ddl.1 + 1 105 c.91G>A c.(91-93)GCG>ACG p.A31T NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 31 ovary(3) 3 CAAGTACTTCGCGAAGCGCAA 0.642 NA 5 23 0 0 0.000602 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:37027156C>G uc004ddl.1 + 1 687 c.673C>G c.(673-675)CAG>GAG p.Q225E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 225 ovary(3) 3 TCTCCGCCCACAGCCTCCCAA 0.647 NA 6 62 0 0 0.001168 0 0 USP9X 8239 broad.mit.edu 37 X 41089775 41089775 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:41089775C>A uc004dfb.2 + 44 8134 c.7501C>A c.(7501-7503)CCA>ACA p.P2501T USP9X_uc004dfc.2_Missense_Mutation_p.P2485T NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 2501 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CCAAGATGCTCCAGATGAACA 0.373 Ovarian(172;1807 2695 35459 49286) NA 10 62 1.11149e-13 1.71627e-13 0.008291 1 0 WDR13 64743 broad.mit.edu 37 X 48457261 48457261 + Nonsense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:48457261C>A uc004dkh.1 + 3 345 c.198C>A c.(196-198)TAC>TAA p.Y66* WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Nonsense_Mutation_p.Y66*|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 66 cytoplasm|nucleus ovary(2) 2 GCCAGCGCTACGGGCCCCTCT 0.677 NA 7 28 0.000157383 0.000184984 0.00308 1 0 WDR13 64743 broad.mit.edu 37 X 48460174 48460174 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:48460174G>T uc004dkh.1 + 7 981 c.834G>T c.(832-834)GTG>GTT p.V278V WDR13_uc010nif.1_Silent_p.V156V|WDR13_uc004dki.1_Silent_p.V186V|WDR13_uc004dkj.1_Silent_p.V278V|WDR13_uc004dkk.1_Silent_p.V186V|WDR13_uc004dkl.3_Silent_p.V186V NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 278 cytoplasm|nucleus ovary(2) 2 CCCCACAGGTGGGGAACGCCA 0.587 NA 7 24 2.52707e-12 3.77264e-12 0.006214 1 0 AKAP4 8852 broad.mit.edu 37 X 49955642 49955642 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:49955642G>T uc004dow.1 - 6 2650 c.2526C>A c.(2524-2526)GCC>GCA p.A842A AKAP4_uc004dov.1_Silent_p.A459A|AKAP4_uc010njp.1_Silent_p.A664A|AKAP4_uc004dou.1_Silent_p.A833A NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 842 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) ACTGTTTCCTGGCCACCTTTC 0.532 NA 22 44 3.62473e-10 5.1432e-10 0.001882 1 0 DGKK 139189 broad.mit.edu 37 X 50213148 50213148 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:50213148G>T uc010njr.1 - 1 590 c.530C>A c.(529-531)CCA>CAA p.P177Q NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 177 33 X 4 AA approximate tandem repeats of E-P-A-P.|33. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) ACATGGTGCTGGACTTGGACG 0.383 NA 4 21 0.000602214 0.000694863 0.000602 1 0 ITIH5L 347365 broad.mit.edu 37 X 54814955 54814955 + Silent SNP A A G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:54814955A>G uc004dtj.2 - 5 774 c.744T>C c.(742-744)GTT>GTC p.V248V NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 248 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CATCGTACTGAACCAGGAAGT 0.582 NA 9 50 0 0 0.006214 0 0 ATRX 546 broad.mit.edu 37 X 76938069 76938069 + Silent SNP G G C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:76938069G>C uc004ecp.3 - 9 2911 c.2679C>G c.(2677-2679)GGC>GGG p.G893G ATRX_uc004ecq.3_Silent_p.G855G|ATRX_uc004eco.3_Silent_p.G678G|ATRX_uc004ecr.2_Silent_p.G825G|ATRX_uc010nlx.1_Silent_p.G864G|ATRX_uc010nly.1_Silent_p.G838G NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 893 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TATCAACTGTGCCTTCTGCTG 0.423 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 38 173 0 0 0.003214 0 0 ATP7A 538 broad.mit.edu 37 X 77244097 77244097 + Silent SNP T T C TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:77244097T>C uc004ecx.3 + 3 640 c.480T>C c.(478-480)TGT>TGC p.C160C ATP7A_uc004ecw.2_Silent_p.C160C NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 160 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 CAGGAGCTTGTGAAGATCATA 0.418 NA 17 99 0 0 0.008871 0 0 BRWD3 254065 broad.mit.edu 37 X 79951432 79951433 + Missense_Mutation DNP TT TT AA TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:79951432_79951433TT>AA uc004edt.2 - 27 3388_3389 c.3125_3126AA>TT c.(3124-3126)GAA>GTT p.E1042V BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E638V|BRWD3_uc004edp.2_Missense_Mutation_p.E871V|BRWD3_uc004edq.2_Missense_Mutation_p.E638V|BRWD3_uc010nmj.1_Missense_Mutation_p.E638V|BRWD3_uc004edr.2_Missense_Mutation_p.E712V|BRWD3_uc004eds.2_Missense_Mutation_p.E638V|BRWD3_uc004edu.2_Missense_Mutation_p.E712V|BRWD3_uc004edv.2_Missense_Mutation_p.E638V|BRWD3_uc004edw.2_Missense_Mutation_p.E638V|BRWD3_uc004edx.2_Missense_Mutation_p.E638V|BRWD3_uc004edy.2_Missense_Mutation_p.E638V|BRWD3_uc004edz.2_Missense_Mutation_p.E712V|BRWD3_uc004eea.2_Missense_Mutation_p.E712V|BRWD3_uc004eeb.2_Missense_Mutation_p.E638V NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1042 ovary(4) 4 TTTCTTTGGCTTCATTATAAAA 0.302 NA 8 26 0 0 0.004672 0 0 KLHL4 56062 broad.mit.edu 37 X 86868949 86868949 + Missense_Mutation SNP C C A rs146051966 byFrequency TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:86868949C>A uc004efb.2 + 2 674 c.492C>A c.(490-492)CAC>CAA p.H164Q KLHL4_uc004efa.2_Missense_Mutation_p.H164Q NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 164 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TTATAAACCACGCAGAGCAAA 0.423 NA 15 64 0.000308642 0.000361421 0.003163 1 0 ARMCX2 9823 broad.mit.edu 37 X 100911668 100911668 + Nonsense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:100911668C>A uc004eid.2 - 3 1262 c.907G>T c.(907-909)GAA>TAA p.E303* ARMCX2_uc004eie.3_Nonsense_Mutation_p.E303*|ARMCX2_uc004eif.3_Nonsense_Mutation_p.E303*|ARMCX2_uc004eig.3_Nonsense_Mutation_p.E303*|ARMCX2_uc010nnt.2_Nonsense_Mutation_p.E303* NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 303 integral to membrane binding ovary(6) 6 TCGTCTACTTCAACTTTGCTT 0.597 NA 24 100 9.22233e-05 0.000110879 0.004656 1 0 BHLHB9 80823 broad.mit.edu 37 X 102005252 102005252 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:102005252C>A uc010nog.2 + 4 1900 c.1329C>A c.(1327-1329)GCC>GCA p.A443A BHLHB9_uc011mrq.1_Silent_p.A443A|BHLHB9_uc011mrr.1_Silent_p.A443A|BHLHB9_uc011mrs.1_Silent_p.A443A|BHLHB9_uc011mrt.1_Silent_p.A443A|BHLHB9_uc004ejo.2_Silent_p.A443A|BHLHB9_uc011mru.1_Silent_p.A443A|BHLHB9_uc011mrv.1_Silent_p.A443A NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 443 cytoplasm|nucleus binding ovary(2) 2 ACATTGTTGCCAATTACTTTT 0.363 NA 7 59 2.0095e-06 2.56272e-06 0.001984 1 0 TMEM31 203562 broad.mit.edu 37 X 102968776 102968776 + Silent SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:102968776C>A uc004elh.2 + 3 548 c.357C>A c.(355-357)ATC>ATA p.I119I GLRA4_uc011mse.1_Intron NM_182541 NP_872347 Q5JXX7 TMM31_HUMAN transmembrane protein 31 119 Helical; (Potential). integral to membrane 0 TGGAAAAGATCGGACTGCCCA 0.373 NA 14 80 4.63292e-17 7.48395e-17 0.008871 1 0 ZCCHC16 340595 broad.mit.edu 37 X 111698533 111698533 + Nonsense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:111698533C>T uc004epo.1 + 3 1018 c.577C>T c.(577-579)CAG>TAG p.Q193* NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 193 nucleic acid binding|zinc ion binding ovary(1) 1 TGATCCCAACCAGGATGAAGA 0.473 NA 19 76 0 0 0.001523 0 0 IGSF1 3547 broad.mit.edu 37 X 130412049 130412049 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:130412049G>T uc004ewd.2 - 13 2339 c.2101C>A c.(2101-2103)CTC>ATC p.L701I IGSF1_uc004ewe.3_Missense_Mutation_p.L695I|IGSF1_uc004ewf.2_Missense_Mutation_p.L681I NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 701 Extracellular (Potential).|Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 TTGCACCGGAGTTGTAGTTCC 0.522 NA 27 109 5.91797e-21 9.91574e-21 0.002445 1 0 FAM127C 441518 broad.mit.edu 37 X 134156229 134156229 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:134156229C>T uc004eyc.1 - 1 338 c.261G>A c.(259-261)GAG>GAA p.E87E NM_001078173 NP_001071641 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 87 0 Acute lymphoblastic leukemia(192;0.000127) GGAGGGGGCTCTCCTTCTTGA 0.627 NA 11 40 0 0 0.000978 0 0 FAM127A 8933 broad.mit.edu 37 X 134166554 134166554 + Silent SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:134166554G>T uc004eyd.2 + 1 222 c.141G>T c.(139-141)ACG>ACT p.T47T uc004eye.1_RNA NM_001078171 NP_001071639 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 47 0 Acute lymphoblastic leukemia(192;0.000127) TCGTGCAGACGGGCTCCTACA 0.637 NA 16 71 1.96292e-10 2.79783e-10 0.001523 1 0 BGN 633 broad.mit.edu 37 X 152772061 152772061 + Missense_Mutation SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:152772061C>T uc004fhr.1 + 5 812 c.640C>T c.(640-642)CGC>TGC p.R214C BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 214 LRR 6. proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAACTACCTGCGCATCTCAGA 0.602 NA 7 62 0 0 0.004482 0 0 NAA10 8260 broad.mit.edu 37 X 153197846 153197846 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153197846C>T uc004fjm.1 - 5 375 c.264G>A c.(262-264)CAG>CAA p.Q88Q NAA10_uc004fjn.1_Silent_p.Q88Q|NAA10_uc011mzg.1_Silent_p.Q88Q NM_003491 NP_003482 P41227 NAA10_HUMAN alpha-N-acetyltransferase 1A 88 N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1) 1 CCATCAGTTTCTGAGCCAGAC 0.587 Ovarian(94;1099 1433 38814 45882 51063) NA 3 41 0 0 0.000602 0 0 HCFC1 3054 broad.mit.edu 37 X 153220568 153220568 + Silent SNP G G A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153220568G>A uc004fjp.2 - 17 3810 c.3282C>T c.(3280-3282)GCC>GCT p.A1094A NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1094 HCF repeat 2. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTtggaggtggcggtggtgg 0.547 NA 15 53 0 0 0.001882 0 0 TKTL1 8277 broad.mit.edu 37 X 153551630 153551630 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:153551630C>A uc004fkg.2 + 9 1450 c.1264C>A c.(1264-1266)CCA>ACA p.P422T TKTL1_uc011mzl.1_Missense_Mutation_p.P416T|TKTL1_uc011mzm.1_Missense_Mutation_p.P218T|TKTL1_uc004fkh.2_Missense_Mutation_p.P366T NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 422 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATCTTCTACCCAACTGATGC 0.517 NA 21 81 3.28513e-13 4.99911e-13 0.003954 1 0 F8 2157 broad.mit.edu 37 X 154158272 154158272 + Missense_Mutation SNP G G T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:154158272G>T uc004fmt.2 - 14 3964 c.3793C>A c.(3793-3795)CCA>ACA p.P1265T NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1265 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TGAAGTACTGGAGCATATGCC 0.373 NA 9 44 1.76689e-08 2.39901e-08 0.006214 1 0 Unknown 0 broad.mit.edu 37 X 155254961 155254961 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chrX:155254961C>T uc004fnx.3 + 9 1171 c.717C>T c.(715-717)CGC>CGT p.R239R NM_182905 NP_878908 WAS protein family homolog 1 NA CCTTTGCCCGCGTGTCAGACT 0.642 NA 7 12 0 0 0.00308 0 0 NOL4 8715 broad.mit.edu 37 18 31709851 31709851 + Frame_Shift_Del DEL T T - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:31709851delT uc010dmi.2 - 2 627 c.398delA c.(397-399)AAGfs p.K133fs NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Frame_Shift_Del_p.K59fs|NOL4_uc010dmh.2_Frame_Shift_Del_p.K59fs|NOL4_uc010xbu.1_Frame_Shift_Del_p.K133fs|NOL4_uc002kxt.3_Frame_Shift_Del_p.K133fs|NOL4_uc010xbw.1_Frame_Shift_Del_p.K19fs NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 133 nucleolus RNA binding ovary(3) 3 GTAAGTTCTCTTTTGTCCAGC 0.358 NA 16 62 --- --- --- --- NA NA NA NA NA FHOD3 80206 broad.mit.edu 37 18 34289064 34289064 + Frame_Shift_Del DEL C C - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr18:34289064delC uc002kzt.1 + 14 1764 c.1667delC c.(1666-1668)GCCfs p.A556fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.A556fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A573fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A288fs|FHOD3_uc010dna.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 556 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCAGCAAGTGCCGGGGATCCT 0.522 NA 48 213 --- --- --- --- NA NA NA NA NA ZNF761 388561 broad.mit.edu 37 19 53959847 53959847 + Frame_Shift_Del DEL G G - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr19:53959847delG uc010eqp.2 + 7 2544 c.2086delG c.(2086-2088)GGCfs p.G696fs ZNF761_uc010ydy.1_Frame_Shift_Del_p.G642fs|ZNF761_uc002qbt.1_Frame_Shift_Del_p.G642fs NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 696 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TAATGAGTGTGGCAAGAACTT 0.393 NA 14 99 --- --- --- --- NA NA NA NA NA NPHP1 4867 broad.mit.edu 37 2 110881617 110881625 + In_Frame_Del DEL GGACTTCAG GGACTTCAG - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 GGACTTCAG GGACTTCAG - - GGACTTCAG GGACTTCAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr2:110881617_110881625delGGACTTCAG uc002tfn.3 - 20 2036_2044 c.1942_1950delCTGAAGTCC c.(1942-1950)CTGAAGTCCdel p.LKS648del NPHP1_uc002tfm.3_In_Frame_Del_p.LKS593del|NPHP1_uc002tfl.3_In_Frame_Del_p.LKS649del|NPHP1_uc002tfo.3_In_Frame_Del_p.LKS530del|NPHP1_uc010ywx.1_In_Frame_Del_p.LKS592del NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 648_650 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 GGAGAAACGTGGACTTCAGGAACTCTTTG 0.459 NA 15 63 --- --- --- --- NA NA NA NA NA CNTN6 27255 broad.mit.edu 37 3 1339578 1339579 + Frame_Shift_Ins INS - - T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:1339578_1339579insT uc003boz.2 + 7 931_932 c.664_665insT c.(664-666)ATGfs p.M222fs CNTN6_uc010hbo.2_Frame_Shift_Ins_p.M217fs|CNTN6_uc011asj.1_Frame_Shift_Ins_p.M150fs|CNTN6_uc003bpa.2_Frame_Shift_Ins_p.M222fs NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 222 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACAGGTGTGATGGGGGAATAT 0.351 NA 19 69 --- --- --- --- NA NA NA NA NA MKRN2 23609 broad.mit.edu 37 3 12623307 12623308 + Frame_Shift_Ins INS - - A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr3:12623307_12623308insA uc003bxd.2 + 7 1025_1026 c.969_970insA c.(967-972)GGGAAAfs p.G323fs MKRN2_uc003bxe.2_Frame_Shift_Ins_p.G321fs|MKRN2_uc011aus.1_Frame_Shift_Ins_p.G280fs NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 323_324 C3H1-type 4. intracellular ligase activity|nucleic acid binding|zinc ion binding 0 TGCTTTTCAGGAAAAAAGCCTG 0.45 NA 7 49 --- --- --- --- NA NA NA NA NA IGF2R 3482 broad.mit.edu 37 6 160464274 160464277 + Frame_Shift_Del DEL AGGC AGGC - TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 AGGC AGGC - - AGGC AGGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq de6ded5a-1646-40fa-80a8-c916cef5dd94 c3cdccd4-e903-42d8-ac96-0a11e8fb9be4 g.chr6:160464274_160464277delAGGC uc003qta.2 + 12 1723_1726 c.1575_1578delAGGC c.(1573-1578)GAAGGCfs p.E525fs NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 525_526 4.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGCTGCAGGAAGGCAAGGCACGAG 0.505 NA 11 109 --- --- --- --- NA NA NA NA NA