Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut KIAA0562 9731 broad.mit.edu 37 1 3740094 3740094 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:3740094C>A uc001aky.2 - 19 2756 c.2397G>T c.(2395-2397)TTG>TTT p.L799F KIAA0562_uc010nzm.1_RNA NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 799 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) ATTCCGTCAGCAAGTGCTCCG 0.502 NA 35 30 1.31e-17 1.83e-17 1 0 CA6 765 broad.mit.edu 37 1 9019024 9019024 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:9019024C>A uc001apm.2 + 4 488 c.464C>A c.(463-465)GCG>GAG p.A155E CA6_uc009vmn.2_Missense_Mutation_p.A95E NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 155 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GCCCAAGATGCGCCGGATGGT 0.428 NA 103 52 4.61e-43 7.15e-43 1 0 CROCC 9696 broad.mit.edu 37 1 17295649 17295649 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:17295649G>T uc001azt.2 + 32 5184 c.5115G>T c.(5113-5115)CTG>CTT p.L1705L CROCC_uc001azu.2_Silent_p.L1008L|CROCC_uc001azv.2_Silent_p.L41L NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1705 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCCTGCAGCTGACCGTGGAGC 0.667 NA 3 11 0.004672 0.00493652 1 0 SH3BGRL3 83442 broad.mit.edu 37 1 26607338 26607338 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:26607338A>G uc001blu.2 + 2 565 c.131A>G c.(130-132)AAC>AGC p.N44S NM_031286 NP_112576 Q9H299 SH3L3_HUMAN SH3 domain binding glutamic acid-rich protein 44 Glutaredoxin. cell redox homeostasis cytoplasm|nucleus electron carrier activity|protein disulfide oxidoreductase activity 0 all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649) TCCCAGGACAACGCCCTGAGG 0.617 NA 18 10 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34123627 34123627 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:34123627C>T uc001bxn.1 - 27 4275 c.4246G>A c.(4246-4248)GCG>ACG p.A1416T CSMD2_uc001bxm.1_Missense_Mutation_p.A1456T|CSMD2_uc001bxo.1_Missense_Mutation_p.A329T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1416 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCTGCAGCGCGTAGCCAGGG 0.592 NA 44 22 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34174731 34174731 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:34174731C>T uc001bxn.1 - 22 3443 c.3414G>A c.(3412-3414)CTG>CTA p.L1138L CSMD2_uc001bxm.1_Silent_p.L1178L|CSMD2_uc001bxo.1_Silent_p.L51L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1138 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCTGGCTTTCAGCTGAATTC 0.443 NA 8 60 0 0 0 0 TMEM125 128218 broad.mit.edu 37 1 43738818 43738818 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:43738818G>T uc001cir.2 + 4 995 c.425G>T c.(424-426)CGG>CTG p.R142L EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.R142L NM_144626 NP_653227 Q96AQ2 TM125_HUMAN transmembrane protein 125 142 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCCTGCTCGGCCGCTGGCC 0.706 NA 9 5 2.74e-10 3.5e-10 1 0 PCSK9 255738 broad.mit.edu 37 1 55518372 55518372 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:55518372G>A uc001cyf.1 + 5 998 c.707G>A c.(706-708)GGC>GAC p.G236D PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 236 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 GTGGTCAGCGGCCGGGATGCC 0.637 NA 25 11 0 0 0 0 INADL 10207 broad.mit.edu 37 1 62340990 62340990 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:62340990G>T uc001dab.2 + 21 3025 c.2911G>T c.(2911-2913)GAC>TAC p.D971Y INADL_uc009waf.1_Missense_Mutation_p.D971Y|INADL_uc001daa.2_Missense_Mutation_p.D971Y|INADL_uc001dad.3_Missense_Mutation_p.D668Y|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 971 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 AGGCAGATTTGACGACCTGGA 0.338 NA 34 13 7.83e-31 1.19e-30 1 0 C1orf173 127254 broad.mit.edu 37 1 75072536 75072536 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:75072536C>A uc001dgg.2 - 10 1457 c.1238G>T c.(1237-1239)AGG>ATG p.R413M uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.R207M NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 413 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTTTCTTTCCTAGATTTCGG 0.408 NA 47 34 2.48e-22 3.65e-22 1 0 WDR63 126820 broad.mit.edu 37 1 85561694 85561694 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:85561694C>G uc001dkt.2 + 11 1445 c.1254C>G c.(1252-1254)ATC>ATG p.I418M WDR63_uc009wcl.2_Missense_Mutation_p.I379M NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 418 WD 1. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GAGGCTGTATCAATGGGCAGG 0.393 NA 31 19 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91843694 91843694 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:91843694A>G uc001doa.3 - 11 1383 c.1283T>C c.(1282-1284)GTA>GCA p.V428A HFM1_uc010osu.1_Missense_Mutation_p.V107A|HFM1_uc010osv.1_Missense_Mutation_p.V112A|HFM1_uc001doc.1_Missense_Mutation_p.V428A NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 428 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCTGCTAACTACAACTTCAAG 0.318 NA 19 16 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103462681 103462681 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:103462681C>T uc001dul.2 - 26 2515 c.2197_splice c.e26-1 p.G733_splice COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G745_splice|COL11A1_uc001dun.2_Splice_Site_p.G694_splice|COL11A1_uc009weh.2_Splice_Site_p.G617_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGGATGACCCTATATTTAGC 0.318 NA 100 51 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103487279 103487279 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:103487279G>T uc001dul.2 - 9 1610 c.1292C>A c.(1291-1293)CCA>CAA p.P431Q COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P443Q|COL11A1_uc001dun.2_Missense_Mutation_p.P392Q|COL11A1_uc009weh.2_Missense_Mutation_p.P315Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 431 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AACCACTGCTGGTTCTCCTTT 0.353 NA 29 20 2e-19 2.86e-19 1 0 PDE4DIP 9659 broad.mit.edu 37 1 145075791 145075791 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:145075791G>T uc001emh.2 - 1 289 c.72C>A c.(70-72)CGC>CGA p.R24R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Silent_p.R24R|PDE4DIP_uc001emk.2_Silent_p.R24R NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:Variant_position_missing_in_Q5VU43_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGTGAGCCCGGCGGGACGCGC 0.716 NA T PDGFRB MPD 17 85 1.37e-18 1.93e-18 1 0 CHD1L 9557 broad.mit.edu 37 1 146747865 146747865 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:146747865G>C uc001epm.3 + 14 1546 c.1483G>C c.(1483-1485)GAA>CAA p.E495Q uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.E382Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.E401Q|CHD1L_uc010ozp.1_Missense_Mutation_p.E214Q|CHD1L_uc001epo.3_Missense_Mutation_p.E291Q|CHD1L_uc010ozq.1_Missense_Mutation_p.E68Q|CHD1L_uc009wji.2_Missense_Mutation_p.E214Q NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 495 Helicase C-terminal. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) CATGATCATAGAAGGAGGCCA 0.453 NA 6 102 0 0 0 0 FAM63A 55793 broad.mit.edu 37 1 150974945 150974945 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:150974945C>A uc001ewf.2 - 3 1833 c.149G>T c.(148-150)CGG>CTG p.R50L FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.R98L|FAM63A_uc001ewg.2_Missense_Mutation_p.R50L NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 50 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGCTGGCTCCCGTTCTCTAGC 0.592 NA 20 248 7.45e-12 9.78e-12 1 0 S100A11 6282 broad.mit.edu 37 1 152005294 152005294 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:152005294C>G uc001ezn.2 - 3 282 c.162G>C c.(160-162)CAG>CAC p.Q54H uc001ezm.1_Intron NM_005620 NP_005611 P31949 S10AB_HUMAN S100 calcium binding protein A11 54 negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction cytoplasm|nucleus|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding 0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CAGGGTCCTTCTGGTTCTGCA 0.269 NA 29 52 0 0 0 0 DCST2 127579 broad.mit.edu 37 1 155004083 155004083 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:155004083G>A uc001fgm.2 - 4 786 c.706C>T c.(706-708)CCC>TCC p.P236S DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 236 Helical; (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGTTTGAAGGGCATGAGCACG 0.512 NA 32 76 0 0 0 0 SYT11 23208 broad.mit.edu 37 1 155837912 155837912 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:155837912T>C uc001fmg.2 + 2 454 c.191T>C c.(190-192)ATA>ACA p.I64T SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 64 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GGCATCAGCATATACCCAGAG 0.502 NA 33 70 0 0 0 0 CD1E 913 broad.mit.edu 37 1 158325824 158325824 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158325824G>C uc001fse.2 + 4 1072 c.833G>C c.(832-834)GGG>GCG p.G278A CD1E_uc010pid.1_Missense_Mutation_p.G276A|CD1E_uc010pie.1_Missense_Mutation_p.G179A|CD1E_uc010pif.1_Missense_Mutation_p.G89A|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.G188A|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.G89A|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G278A|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.G89A|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.G179A|CD1E_uc001frz.2_Missense_Mutation_p.G188A|CD1E_uc009wsw.2_Missense_Mutation_p.G36A NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 278 Ig-like. 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) GTGGCGGCTGGGGAGGCAGCT 0.607 NA 39 64 0 0 0 0 OR10K1 391109 broad.mit.edu 37 1 158435444 158435444 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158435444C>T uc010pij.1 + 1 93 c.93C>T c.(91-93)TTC>TTT p.F31F NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TTGTTATCTTCCTGCTCCTCT 0.517 NA 40 65 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158582607 158582607 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158582607C>T uc001fst.1 - 51 7333 c.7134G>A c.(7132-7134)CAG>CAA p.Q2378Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2378 EF-hand 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGAATCGGACCTGCTTCATGT 0.458 NA 26 51 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158627344 158627344 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158627344C>G uc001fst.1 - 19 2927 c.2728G>C c.(2728-2730)GAA>CAA p.E910Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 910 Spectrin 10. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTTTCTGCTTCATGCAGGTCA 0.473 NA 71 111 0 0 0 0 DARC 2532 broad.mit.edu 37 1 159175930 159175930 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:159175930C>A uc001fto.2 + 2 941 c.701C>A c.(700-702)GCA>GAA p.A234E DARC_uc001ftp.3_Missense_Mutation_p.A236E NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 234 Cytoplasmic (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) CTGAAGAAGGCATTGGGTATG 0.542 NA 26 62 6.13e-19 8.71e-19 1 0 DEDD 9191 broad.mit.edu 37 1 161093691 161093691 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:161093691C>G uc001fxz.2 - 4 544 c.371G>C c.(370-372)CGC>CCC p.R124P NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Missense_Mutation_p.R124P|DEDD_uc001fya.2_Missense_Mutation_p.R124P|DEDD_uc001fyb.2_Missense_Mutation_p.R124P|DEDD_uc010pkb.1_Missense_Mutation_p.R81P|DEDD_uc001fyc.2_5'UTR NM_001039712 NP_001034801 O75618 DEDD_HUMAN death effector domain-containing protein 124 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding 0 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGTCACATAGCGAATTGATGT 0.483 NA 37 97 0 0 0 0 DDR2 4921 broad.mit.edu 37 1 162731083 162731083 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:162731083G>T uc001gcf.2 + 10 1403 c.938G>T c.(937-939)TGG>TTG p.W313L DDR2_uc001gcg.2_Missense_Mutation_p.W313L NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 313 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCCAGTGAGTGGGAACCTAAT 0.527 NA 28 30 2.13e-12 2.82e-12 1 0 C1orf110 339512 broad.mit.edu 37 1 162824618 162824618 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:162824618G>A uc001gck.2 - 4 1021 c.846C>T c.(844-846)TCC>TCT p.S282S C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Silent_p.S281S NM_178550 NP_848645 Q86UF4 CA110_HUMAN hypothetical protein LOC339512 282 0 TGGATGATGAGGATTCCCCAT 0.473 NA 50 71 0 0 0 0 FAM5B 57795 broad.mit.edu 37 1 177226407 177226407 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:177226407A>T uc001glf.2 + 4 868 c.556A>T c.(556-558)AGC>TGC p.S186C FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Missense_Mutation_p.S81C NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 186 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CAGTGGGAACAGCACAGCTGT 0.557 NA 16 33 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 180006140 180006140 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:180006140G>T uc001gnt.2 + 17 4409 c.4026G>T c.(4024-4026)TCG>TCT p.S1342S CEP350_uc009wxl.2_Silent_p.S1341S|CEP350_uc001gnu.2_Silent_p.S1175S NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1342 centrosome|nucleus|spindle ovary(4) 4 TTGAGGAGTCGGTGCGCCAAC 0.468 NA 7 7 5.49e-09 6.85e-09 1 0 CACNA1E 777 broad.mit.edu 37 1 181690908 181690908 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:181690908G>A uc001gow.2 + 16 2136 c.1971G>A c.(1969-1971)GAG>GAA p.E657E CACNA1E_uc009wxs.2_Silent_p.E564E NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 657 Extracellular (Potential).|II. Calcium ion selectivity and permeability (By similarity). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TGACGGGTGAGGACTGGAATG 0.542 NA 54 122 0 0 0 0 UCHL5 51377 broad.mit.edu 37 1 193028325 193028325 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:193028325A>C uc001gsm.2 - 1 197 c.66T>G c.(64-66)ATT>ATG p.I22M UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.I22M|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.I22M|UCHL5_uc001gsq.2_Missense_Mutation_p.I22M|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_Translation_Start_Site|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 22 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 CGAATCCTTTAATGAGCTCGG 0.677 NA 14 7 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196227558 196227558 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:196227558G>T uc001gtd.1 - 26 3037 c.2977C>A c.(2977-2979)CGC>AGC p.R993S KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R926S|KCNT2_uc001gtf.1_Missense_Mutation_p.R969S|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R497S NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 993 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TGGTTGCTGCGGTGGTGCCCT 0.468 NA 40 79 6.49e-15 8.88e-15 1 0 CRB1 23418 broad.mit.edu 37 1 197404354 197404354 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:197404354C>A uc001gtz.2 + 9 3496 c.3361C>A c.(3361-3363)CAG>AAG p.Q1121K CRB1_uc010poz.1_Missense_Mutation_p.Q1097K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q1009K|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.Q602K|CRB1_uc001gub.1_Missense_Mutation_p.Q770K NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1121 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TAATAAACCTCAGGAAGAGCA 0.398 NA 30 72 1.14e-10 1.46e-10 1 0 SLC26A9 115019 broad.mit.edu 37 1 205900999 205900999 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:205900999C>G uc001hdq.2 - 5 655 c.541G>C c.(541-543)GCC>CCC p.A181P SLC26A9_uc001hdp.2_Missense_Mutation_p.A181P NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 181 Helical; (Potential). integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TGGATGATGGCGGTGAGGCAG 0.562 NA 21 31 0 0 0 0 PIGR 5284 broad.mit.edu 37 1 207106357 207106357 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:207106357C>A uc001hez.2 - 7 2044 c.1860G>T c.(1858-1860)GGG>GGT p.G620G PIGR_uc009xbz.2_Silent_p.G620G NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 620 Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 ATGCTCTGCTCCCATCGGCTT 0.557 NA 25 63 3.65e-15 5.02e-15 1 0 CAMK1G 57172 broad.mit.edu 37 1 209781228 209781228 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:209781228C>A uc001hhd.2 + 7 687 c.585C>A c.(583-585)CCC>CCA p.P195P CAMK1G_uc001hhf.3_Silent_p.P195P|CAMK1G_uc001hhe.2_Silent_p.P195P NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 195 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CCCAGAAACCCTACAGCAAGG 0.597 NA 56 87 3.89e-19 5.58e-19 1 0 C1orf107 27042 broad.mit.edu 37 1 210006693 210006693 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:210006693A>G uc001hhr.1 + 4 628 c.552A>G c.(550-552)AAA>AAG p.K184K C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 184 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) CTTCTTTGAAAGCCTCTCAAG 0.398 NA 44 85 0 0 0 0 KCNH1 3756 broad.mit.edu 37 1 211093374 211093374 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:211093374C>A uc001hib.2 - 7 1240 c.1070G>T c.(1069-1071)CGG>CTG p.R357L KCNH1_uc001hic.2_Missense_Mutation_p.R330L NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 357 Helical; Voltage-sensor; Name=Segment S4; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACGGAGCAGCCGGACAACTTT 0.567 NA 29 62 6.39e-12 8.41e-12 1 0 PROX1 5629 broad.mit.edu 37 1 214170119 214170119 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:214170119G>A uc001hkh.2 + 2 513 c.241G>A c.(241-243)GAA>AAA p.E81K PROX1_uc001hkg.1_Missense_Mutation_p.E81K NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 81 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAACTCGTATGAAGATGCCAT 0.478 NA 9 71 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214170863 214170863 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:214170863G>A uc001hkh.2 + 2 1257 c.985G>A c.(985-987)GGC>AGC p.G329S PROX1_uc001hkg.1_Missense_Mutation_p.G329S NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 329 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAAGCGAGAAGGCAACAACAA 0.493 NA 9 50 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215955411 215955411 + Silent SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:215955411C>G uc001hku.1 - 54 11100 c.10713G>C c.(10711-10713)ACG>ACC p.T3571T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3571 Extracellular (Potential).|Fibronectin type-III 20. T -> M (in USH2A). 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) AGCCAGCAACCGTGCAAGCTT 0.443 NA HNSCC(13;0.011) 37 62 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216258127 216258127 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:216258127G>T uc001hku.1 - 25 5467 c.5080C>A c.(5080-5082)CAG>AAG p.Q1694K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1694 Laminin G-like 1.|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) TCAGAACTCTGCCAATCCAGA 0.433 NA HNSCC(13;0.011) 54 88 3.46e-24 5.16e-24 1 0 SPATA17 128153 broad.mit.edu 37 1 217822275 217822275 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:217822275A>T uc001hlh.1 + 2 146 c.120A>T c.(118-120)CAA>CAT p.Q40H SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q40H NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 40 IQ 1. cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTAAAATCCAAAGCTGGTTTC 0.303 NA 25 60 0 0 0 0 TRIM67 440730 broad.mit.edu 37 1 231335944 231335944 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:231335944C>T uc009xfn.1 + 4 1356 c.1314C>T c.(1312-1314)ACC>ACT p.T438T NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 438 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) GTCAGTCCACCGGACTGATGG 0.522 NA 14 147 0 0 0 0 RBM34 23029 broad.mit.edu 37 1 235324273 235324273 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:235324273G>A uc001hwn.2 - 2 193 c.163C>T c.(163-165)CGG>TGG p.R55W RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.R55W NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 55 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) GACGCCAGCCGACCGGTGCCA 0.587 NA 16 61 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237774236 237774236 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:237774236C>A uc001hyl.1 + 36 4978 c.4858C>A c.(4858-4860)CAG>AAG p.Q1620K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1620 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGGTTGGTGCAGTGTTTGGA 0.502 NA 5 14 2.01e-06 2.35e-06 1 0 RYR2 6262 broad.mit.edu 37 1 237817705 237817705 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:237817705G>T uc001hyl.1 + 52 8076 c.7956G>T c.(7954-7956)CTG>CTT p.L2652L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2652 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGATGCCCTGTCTCAAAAGG 0.378 NA 11 24 2.81e-09 3.52e-09 1 0 RYR2 6262 broad.mit.edu 37 1 237843850 237843850 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:237843850C>G uc001hyl.1 + 62 9110 c.8990C>G c.(8989-8991)TCC>TGC p.S2997C RYR2_uc010pxz.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2997 Modulator (Potential).|Cytoplasmic (By similarity).|Calmodulin-binding (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGACATGCTTCCAACAAAGAG 0.388 NA 9 8 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240370334 240370334 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:240370334C>T uc010pyd.1 + 5 2447 c.2222C>T c.(2221-2223)GCG>GTG p.A741V FMN2_uc010pye.1_Missense_Mutation_p.A745V NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 741 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATTTTAGAGGCGAAATCGATA 0.567 NA 10 27 0 0 0 0 CHML 1122 broad.mit.edu 37 1 241798273 241798273 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:241798273G>C uc001hzd.2 - 1 960 c.796C>G c.(796-798)CTT>GTT p.L266V OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 266 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CGAAATGCAAGAATCCTAGTG 0.358 NA 19 36 0 0 0 0 OR2G3 81469 broad.mit.edu 37 1 247769784 247769784 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:247769784G>C uc010pyz.1 + 1 897 c.897G>C c.(895-897)GAG>GAC p.E299D NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATATGAAAGAGGCTCTGAGGA 0.408 NA 39 76 0 0 0 0 OR2L3 391192 broad.mit.edu 37 1 248224349 248224349 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248224349C>T uc001idx.1 + 1 366 c.366C>T c.(364-366)TAC>TAT p.Y122Y OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATGATCGTTACATTGCTATTT 0.448 NA 100 141 0 0 0 0 OR2M2 391194 broad.mit.edu 37 1 248343675 248343675 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248343675C>A uc010pzf.1 + 1 388 c.388C>A c.(388-390)CTA>ATA p.L130I NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTGCCACCCTCTAAGATATAC 0.403 NA 133 263 1.15e-51 1.8e-51 1 0 OR2M7 391196 broad.mit.edu 37 1 248487047 248487047 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248487047G>A uc010pzk.1 - 1 824 c.824C>T c.(823-825)TCT>TTT p.S275F NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTAGAATACAGACACCATCTT 0.463 NA 43 64 0 0 0 0 OR2T10 127069 broad.mit.edu 37 1 248756557 248756557 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248756557G>A uc010pzn.1 - 1 513 c.513C>T c.(511-513)TCC>TCT p.S171S NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 171 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) GAATCTCATGGGATCTGCAGA 0.502 NA 49 94 0 0 0 0 LARP4B 23185 broad.mit.edu 37 10 875449 875449 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:875449T>A uc001ifs.1 - 10 1042 c.1001A>T c.(1000-1002)CAG>CTG p.Q334L NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 334 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 GTAGCGCTGCTGGGCATACAG 0.517 NA 38 19 0 0 0 0 TAF3 83860 broad.mit.edu 37 10 8006089 8006089 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:8006089G>A uc010qbd.1 + 3 616 c.616G>A c.(616-618)GAT>AAT p.D206N NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 206 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 GGACACGCTAGATGTTGTGTT 0.478 NA 36 28 0 0 0 0 ARMC3 219681 broad.mit.edu 37 10 23248003 23248003 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:23248003T>A uc001irm.3 + 5 380 c.297T>A c.(295-297)GAT>GAA p.D99E ARMC3_uc010qcv.1_Missense_Mutation_p.D99E|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_Missense_Mutation_p.D11E NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 99 ARM 3. binding 0 TTGTAGATGATGTTAAAAAAT 0.229 NA 30 27 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34671813 34671813 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:34671813T>C uc010qej.1 - 9 1054 c.1054A>G c.(1054-1056)ATC>GTC p.I352V PARD3_uc010qek.1_Missense_Mutation_p.I352V|PARD3_uc010qel.1_Missense_Mutation_p.I352V|PARD3_uc010qem.1_Missense_Mutation_p.I352V|PARD3_uc010qen.1_Missense_Mutation_p.I352V|PARD3_uc010qeo.1_Missense_Mutation_p.I352V|PARD3_uc010qep.1_Missense_Mutation_p.I308V|PARD3_uc010qeq.1_Missense_Mutation_p.I308V|PARD3_uc001ixo.1_Missense_Mutation_p.I82V|PARD3_uc001ixp.1_Missense_Mutation_p.I217V|PARD3_uc001ixq.1_Missense_Mutation_p.I352V|PARD3_uc001ixr.1_Missense_Mutation_p.I352V|PARD3_uc001ixt.1_Missense_Mutation_p.I173V|PARD3_uc001ixu.1_Missense_Mutation_p.I308V|PARD3_uc001ixs.1_Missense_Mutation_p.I5V NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 352 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) AACCAAATGATGGGTGTACGC 0.398 NA 66 50 0 0 0 0 ZNF32 7580 broad.mit.edu 37 10 44140211 44140211 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:44140211C>T uc001jbb.2 - 3 298 c.109G>A c.(109-111)GAG>AAG p.E37K uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.E37K NM_001005368 NP_001005368 P17041 ZNF32_HUMAN zinc finger protein 32 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) CCTGTAGCCTCAGAGTGGTCA 0.418 NA 14 90 0 0 0 0 CHAT 1103 broad.mit.edu 37 10 50863176 50863176 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:50863176C>T uc001jhz.2 + 12 1823 c.1670C>T c.(1669-1671)GCG>GTG p.A557V CHAT_uc001jhv.1_Missense_Mutation_p.A439V|CHAT_uc001jhx.1_Missense_Mutation_p.A439V|CHAT_uc001jhy.1_Missense_Mutation_p.A439V|CHAT_uc001jia.2_Missense_Mutation_p.A439V|CHAT_uc010qgs.1_Missense_Mutation_p.A439V NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 557 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TACGAGAGCGCGTCCATCCGC 0.547 NA 15 45 0 0 0 0 DUPD1 338599 broad.mit.edu 37 10 76803730 76803730 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:76803730C>T uc001jwq.1 - 2 246 c.246G>A c.(244-246)ACG>ACA p.T82T NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 82 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCAGCACGTGCGTGAACCCCG 0.711 NA 13 13 0 0 0 0 MAT1A 4143 broad.mit.edu 37 10 82039969 82039969 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:82039969G>C uc001kbw.2 - 5 764 c.509C>G c.(508-510)TCC>TGC p.S170C NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 170 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GAGGAGGCCGGAGCGCCTGAG 0.577 NA 48 29 0 0 0 0 GRID1 2894 broad.mit.edu 37 10 87614373 87614373 + Splice_Site SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:87614373C>A uc001kdl.1 - 8 1215 c.1114_splice c.e8-1 p.G372_splice GRID1_uc009xsu.1_Splice_Site NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGATGTGGCCCTGCAGAAGAG 0.498 NA Multiple Myeloma(13;0.14) 23 9 5.35e-11 6.91e-11 1 0 OPALIN 93377 broad.mit.edu 37 10 98105775 98105775 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:98105775C>T uc001kmj.2 - 6 788 c.349G>A c.(349-351)GAC>AAC p.D117N OPALIN_uc010qor.1_Missense_Mutation_p.D107N|OPALIN_uc001kmi.2_Missense_Mutation_p.D107N|OPALIN_uc001kmk.2_Missense_Mutation_p.D94N|OPALIN_uc010qos.1_RNA NM_033207 NP_149984 Q96PE5 OPALI_HUMAN transmembrane protein 10 isoform a 117 Golgi apparatus|integral to membrane|plasma membrane 0 CGGTAACGGTCATGCACAGGT 0.507 NA 59 41 0 0 0 0 GBF1 8729 broad.mit.edu 37 10 104120033 104120033 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:104120033G>A uc001kux.1 + 12 1510 c.1270G>A c.(1270-1272)GAG>AAG p.E424K GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.E424K|GBF1_uc001kuz.1_Missense_Mutation_p.E425K NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 424 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCATAACTCAGAGGTTATGAT 0.562 NA 183 89 0 0 0 0 TRIM8 81603 broad.mit.edu 37 10 104416663 104416663 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:104416663C>T uc001kvz.2 + 6 1331 c.1208C>T c.(1207-1209)GCG>GTG p.A403V NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 403 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) TACGGGGCGGCGGGCACAGCC 0.711 NA 38 23 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 117885028 117885028 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:117885028C>T uc001lcj.2 - 6 1172 c.474G>A c.(472-474)GCG>GCA p.A158A GFRA1_uc001lci.2_Silent_p.A153A|GFRA1_uc009xyr.2_Silent_p.A153A NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 158 2 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) TGCAGGCCTTCGCTGCATCCA 0.557 NA 4 14 0 0 0 0 IRF7 3665 broad.mit.edu 37 11 613308 613308 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:613308C>T uc001lqh.2 - 9 1505 c.1135G>A c.(1135-1137)GAG>AAG p.E379K IRF7_uc009ycb.2_Missense_Mutation_p.E273K|IRF7_uc010qwf.1_Missense_Mutation_p.E378K|IRF7_uc001lqf.2_Missense_Mutation_p.E86K|IRF7_uc010qwg.1_Missense_Mutation_p.E86K|IRF7_uc001lqg.2_Missense_Mutation_p.E392K|IRF7_uc001lqi.2_Missense_Mutation_p.E350K|IRF7_uc010qwh.1_Missense_Mutation_p.E86K NM_001572 NP_001563 Q92985 IRF7_HUMAN interferon regulatory factor 7 isoform a 379 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCCCACCTCCCAGTACACC 0.677 NA 13 32 0 0 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249862 3249862 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:3249862G>A uc001lxq.3 - 2 475 c.165C>T c.(163-165)AAC>AAT p.N55N NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 55 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCGAAGGGGTTTCTGTAGA 0.632 NA 41 65 0 0 0 0 OR52K2 119774 broad.mit.edu 37 11 4470788 4470788 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:4470788G>T uc001lyz.1 + 1 219 c.219G>T c.(217-219)CTG>CTT p.L73L NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCGACCTGGTCCTTTCCT 0.527 NA 74 107 4.12e-46 6.41e-46 1 0 OR52A5 390054 broad.mit.edu 37 11 5153170 5153170 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:5153170C>T uc010qyx.1 - 1 703 c.703G>A c.(703-705)GAG>AAG p.E235K NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATCGTGCCTCCTTCTGGGGC 0.418 NA 48 47 0 0 0 0 OR51B6 390058 broad.mit.edu 37 11 5373014 5373014 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:5373014G>T uc010qzb.1 + 1 277 c.277G>T c.(277-279)GGA>TGA p.G93* HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTGGCCATGGAGCCTGCTT 0.483 NA 52 62 7.07e-37 1.09e-36 1 0 OR52D1 390066 broad.mit.edu 37 11 5510563 5510563 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:5510563C>A uc010qzg.1 + 1 627 c.627C>A c.(625-627)GCC>GCA p.A209A HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCTGGCCATGGGACTGG 0.483 NA 93 167 1.1e-24 1.65e-24 1 0 OR10A4 283297 broad.mit.edu 37 11 6898646 6898647 + Missense_Mutation DNP CA CA AT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:6898646_6898647CA>AT uc010rat.1 + 1 768_769 c.768_769CA>AT c.(766-771)GCCATC>GCATTC p.I257F NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATAGCACTGCCATCCTCACGTA 0.525 NA 53 71 0 0 0 0 RIC3 79608 broad.mit.edu 37 11 8132424 8132424 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:8132424C>T uc001mgd.2 - 6 985 c.931G>A c.(931-933)GAG>AAG p.E311K RIC3_uc001mgb.2_Missense_Mutation_p.E149K|RIC3_uc001mgc.2_Missense_Mutation_p.E310K|RIC3_uc001mge.2_Missense_Mutation_p.E129K|RIC3_uc010rbl.1_Missense_Mutation_p.E261K|RIC3_uc010rbm.1_Missense_Mutation_p.E339K|RIC3_uc009yfm.2_Missense_Mutation_p.E230K|RIC3_uc009yfn.2_Missense_Mutation_p.E114K NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 311 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GCAGGATCCTCGTCTTCATGA 0.483 NA 80 94 0 0 0 0 C11orf16 56673 broad.mit.edu 37 11 8947492 8947492 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:8947492G>A uc001mhb.3 - 5 846 c.722C>T c.(721-723)CCT>CTT p.P241L C11orf16_uc001mhc.3_Missense_Mutation_p.P241L NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 241 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGAGCAGCAAGGGGCCCAGTG 0.612 NA 14 91 0 0 0 0 PRMT3 10196 broad.mit.edu 37 11 20483570 20483570 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:20483570G>A uc001mqb.2 + 12 1334 c.1117G>A c.(1117-1119)GTG>ATG p.V373M PRMT3_uc001mqc.2_Missense_Mutation_p.V296M|PRMT3_uc010rdn.1_Missense_Mutation_p.V311M NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 373 zinc ion binding 0 AGTGAGTGATGTGAATAAACA 0.388 NA 43 91 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22242683 22242683 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:22242683G>T uc001mqi.2 + 5 538 c.221G>T c.(220-222)CGA>CTA p.R74L ANO5_uc001mqj.2_Missense_Mutation_p.R73L NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 74 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 ATCTTCTTCCGAGATGGGATT 0.353 NA 23 32 1.18e-12 1.57e-12 1 0 IMMP1L 196294 broad.mit.edu 37 11 31484808 31484808 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:31484808G>A uc001msy.1 - 3 212 c.16C>T c.(16-18)CTG>TTG p.L6L IMMP1L_uc001msz.1_Silent_p.L6L|IMMP1L_uc009yjo.2_Silent_p.L6L|IMMP1L_uc009yjp.2_Intron NM_144981 NP_659418 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane 6 proteolysis mitochondrial inner membrane serine-type peptidase activity 0 Lung SC(675;0.225) GTTTTCCCCAGAACACCACGA 0.363 NA 6 79 0 0 0 0 ALX4 60529 broad.mit.edu 37 11 44286554 44286554 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:44286554C>T uc001myb.2 - 4 1190 c.1086G>A c.(1084-1086)ACG>ACA p.T362T NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 362 hair follicle development 0 TGCCCATGTGCGTCTGGCCCA 0.677 NA 12 41 0 0 0 0 ZNF408 79797 broad.mit.edu 37 11 46726538 46726538 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:46726538G>C uc001nde.1 + 5 1518 c.1288G>C c.(1288-1290)GTA>CTA p.V430L ZNF408_uc010rgw.1_Missense_Mutation_p.V422L NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 430 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 GCACCAGGTGGTACATTCAGG 0.647 NA 26 66 0 0 0 0 C1QTNF4 114900 broad.mit.edu 37 11 47611622 47611622 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:47611622C>T uc001ngc.2 - 2 1008 c.741G>A c.(739-741)CTG>CTA p.L247L NM_031909 NP_114115 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 247 C1q 2. extracellular region 0 GGTTCTTCATCAGCTTAACCG 0.677 NA 11 20 0 0 0 0 OR4S1 256148 broad.mit.edu 37 11 48327915 48327915 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:48327915C>A uc010rhu.1 + 1 141 c.141C>A c.(139-141)ATC>ATA p.I47I NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCATCACCATCAATGCTAGAA 0.448 NA 69 88 6.13e-21 8.9e-21 1 0 OR4P4 81300 broad.mit.edu 37 11 55405873 55405873 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55405873G>A uc010rij.1 + 1 40 c.40G>A c.(40-42)GGG>AGG p.G14R NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TATTCTCTTGGGGTTTTCCCA 0.313 NA 75 112 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55658943 55658943 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55658943G>T uc010rip.1 + 7 1286 c.1194G>T c.(1192-1194)GTG>GTT p.V398V SPRYD5_uc010riq.1_Silent_p.V255V NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 398 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CCCCACTTGTGGTGCAATATG 0.448 NA 24 41 7.26e-15 9.92e-15 1 0 OR5W2 390148 broad.mit.edu 37 11 55681386 55681386 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55681386C>T uc010rir.1 - 1 673 c.673G>A c.(673-675)GTC>ATC p.V225I NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATCTCCAAGACTGATAGGATG 0.403 NA 20 45 0 0 0 0 OR5J2 282775 broad.mit.edu 37 11 55944656 55944656 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55944656C>A uc010rjb.1 + 1 563 c.563C>A c.(562-564)TCA>TAA p.S188* NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) CTAAAGCTGTCATGTTCTGAC 0.438 NA 47 77 2.13e-23 3.17e-23 1 0 OR8J1 219477 broad.mit.edu 37 11 56128446 56128446 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:56128446G>A uc010rjh.1 + 1 724 c.724G>A c.(724-726)GCT>ACT p.A242T NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TTCTACCTGTGCTTCACATAT 0.348 NA 49 79 0 0 0 0 SERPING1 710 broad.mit.edu 37 11 57379390 57379390 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:57379390C>A uc001nkp.1 + 7 1421 c.1230C>A c.(1228-1230)CTC>CTA p.L410L SERPING1_uc001nkq.1_Silent_p.L373L|SERPING1_uc010rju.1_Silent_p.L358L|SERPING1_uc010rjv.1_Silent_p.L415L|SERPING1_uc001nkr.1_Silent_p.L410L|SERPING1_uc009ymi.1_Silent_p.L419L|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Silent_p.L101L NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 410 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 AGGATATGCTCTCAATCATGG 0.453 NA Hereditary_Angioedema 28 49 3.7e-05 4.17e-05 1 0 OR5B17 219965 broad.mit.edu 37 11 58126398 58126398 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:58126398G>C uc010rke.1 - 1 145 c.145C>G c.(145-147)CTG>GTG p.L49V NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGAGAGTCCAGCAGGATTAAT 0.463 NA 40 71 0 0 0 0 TCN1 6947 broad.mit.edu 37 11 59626621 59626621 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:59626621C>G uc001noj.2 - 5 774 c.676G>C c.(676-678)GAA>CAA p.E226Q NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 226 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAATCTTTTCTACCAGTGAC 0.413 NA 56 105 0 0 0 0 ZP1 22917 broad.mit.edu 37 11 60637115 60637115 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:60637115C>A uc001nqd.2 + 3 444 c.424C>A c.(424-426)CGG>AGG p.R142R ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 142 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 TGACCCCTCCCGGACTCTGGA 0.597 NA 20 27 3.08e-08 3.78e-08 1 0 DDB1 1642 broad.mit.edu 37 11 61094321 61094321 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:61094321T>A uc001nrc.3 - 5 820 c.594A>T c.(592-594)CGA>CGT p.R198R DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.R198R|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Silent_p.R198R|DDB1_uc009ynl.1_Silent_p.R85R NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 198 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 ATTCCTTTTCTCGGAGAGACA 0.522 NA NER 97 158 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62296993 62296993 + Silent SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:62296993T>C uc001ntl.2 - 5 5196 c.4896A>G c.(4894-4896)CCA>CCG p.P1632P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1632 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACTTCCCTTCTGGACCTTCAA 0.473 NA 99 142 0 0 0 0 NRXN2 9379 broad.mit.edu 37 11 64415749 64415749 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:64415749C>A uc001oar.2 - 18 3784 c.3345G>T c.(3343-3345)TGG>TGT p.W1115C NRXN2_uc001oas.2_Missense_Mutation_p.W1075C|NRXN2_uc001oaq.2_Missense_Mutation_p.W782C NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TGAAGCCATCCCACTGCTGCA 0.627 NA 34 62 1.63e-12 2.16e-12 1 0 ANKRD13D 338692 broad.mit.edu 37 11 67068516 67068516 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:67068516G>T uc001okc.1 + 12 1379 c.868G>T c.(868-870)GTG>TTG p.V290L ANKRD13D_uc001okd.1_Missense_Mutation_p.V377L|ANKRD13D_uc001oke.1_Missense_Mutation_p.V290L|ANKRD13D_uc001okg.1_Missense_Mutation_p.V73L|ANKRD13D_uc001okh.1_Missense_Mutation_p.V73L|ANKRD13D_uc001oki.1_Missense_Mutation_p.V27L|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 290 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGGTGACCAGGTGACCCCCAT 0.607 NA 16 29 3.53e-06 4.11e-06 1 0 TBX10 347853 broad.mit.edu 37 11 67399229 67399229 + Silent SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:67399229C>G uc001omp.2 - 8 1093 c.1005G>C c.(1003-1005)CCG>CCC p.P335P NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank NM_005995 NP_005986 O75333 TBX10_HUMAN T-box 10 335 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CTAGGTGGCTCGGGGCTCCAG 0.652 NA 7 12 0 0 0 0 LRP5 4041 broad.mit.edu 37 11 68181317 68181317 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:68181317C>T uc001ont.2 + 12 2739 c.2664C>T c.(2662-2664)TTC>TTT p.F888F LRP5_uc009ysg.2_Silent_p.F298F NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 888 Beta-propeller 3.|LDL-receptor class B 15.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 ACCTGGACTTCGTGATGGACA 0.592 NA 27 33 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70332941 70332941 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:70332941G>T uc001oqc.2 - 21 3535 c.3457C>A c.(3457-3459)CCC>ACC p.P1153T SHANK2_uc010rqn.1_Missense_Mutation_p.P565T|SHANK2_uc001opz.2_Missense_Mutation_p.P558T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 774 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGGTTTTCGGGCTCCCTGGGC 0.677 NA 34 49 2.2e-25 3.31e-25 1 0 KRTAP5-9 3846 broad.mit.edu 37 11 71260116 71260116 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:71260116C>T uc001oqs.1 + 1 651 c.413C>T c.(412-414)TCA>TTA p.S138L NM_005553 NP_005544 P26371 KRA59_HUMAN keratin associated protein 5-9 138 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament 0 TGCTCATCCTCAGGCTGTGGG 0.612 NA 93 163 0 0 0 0 P4HA3 283208 broad.mit.edu 37 11 74013546 74013546 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:74013546G>T uc001ouz.2 - 3 478 c.435C>A c.(433-435)GAC>GAA p.D145E P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.D145E NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 145 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) GCATGTACACGTCCTGCAGCC 0.552 NA 56 109 5.82e-30 8.85e-30 1 0 CHRDL2 25884 broad.mit.edu 37 11 74408263 74408263 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:74408263A>G uc001ovi.2 - 10 1453 c.1200T>C c.(1198-1200)GCT>GCC p.A400A CHRDL2_uc001ovg.2_Silent_p.A284A|CHRDL2_uc001ovh.2_Missense_Mutation_p.W419R Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 400 cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) CGTGGGGGCCAGCGAGCAGTC 0.587 NA 40 68 0 0 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800700 74800700 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:74800700C>T uc010rro.1 - 1 59 c.59G>A c.(58-60)GGC>GAC p.G20D NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGAGGGGATGCCCAATAGATA 0.507 NA 28 39 0 0 0 0 MMP12 4321 broad.mit.edu 37 11 102738033 102738033 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:102738033G>C uc001phk.2 - 7 924 c.879C>G c.(877-879)ACC>ACG p.T293T NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 293 Hemopexin-like 1. positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TATTTCCCACGGTAGTGACAG 0.368 NA 7 3 0 0 0 0 PIH1D2 120379 broad.mit.edu 37 11 111938637 111938637 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:111938637G>C uc001pmq.3 - 6 988 c.906C>G c.(904-906)ATC>ATG p.I302M PIH1D2_uc009yyl.2_Intron|PIH1D2_uc001pmp.3_Missense_Mutation_p.I302M NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 isoform 1 302 ovary(1) 1 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) ATTTTTCTTTGATAAATTTTG 0.333 NA 38 33 0 0 0 0 FAM55A 120400 broad.mit.edu 37 11 114393726 114393726 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:114393726G>A uc001ppa.2 - 5 974 c.557C>T c.(556-558)ACA>ATA p.T186I FAM55A_uc010rxd.1_Missense_Mutation_p.T35I NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 328 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) GTTGCAAAATGTTGTTATCCA 0.403 NA 19 12 0 0 0 0 FAM55D 54827 broad.mit.edu 37 11 114453199 114453199 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:114453199T>G uc001ppc.2 - 3 822 c.641A>C c.(640-642)CAA>CCA p.Q214P FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 214 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) AGAGTGGACTTGGGAAGTGCC 0.512 NA 36 28 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299175 117299175 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:117299175G>A uc001prh.1 - 33 6213 c.6211C>T c.(6211-6213)CCA>TCA p.P2071S NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2011 Cytoplasmic (Potential).|Pro-rich. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCGGCTCGTGGAGGCTCGGTG 0.746 NA 7 6 0 0 0 0 USP2 9099 broad.mit.edu 37 11 119229766 119229766 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:119229766A>T uc001pwm.3 - 6 1435 c.1140T>A c.(1138-1140)CCT>CCA p.P380P USP2_uc001pwl.3_Silent_p.P171P|USP2_uc001pwn.3_Silent_p.P137P NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 380 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GGTTGGACTTAGGTCTCAGTG 0.483 NA 39 15 0 0 0 0 OPCML 4978 broad.mit.edu 37 11 132306621 132306621 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:132306621C>T uc001qgs.2 - 5 767 c.717G>A c.(715-717)AAG>AAA p.K239K OPCML_uc001qgu.2_Silent_p.K232K|OPCML_uc010sck.1_Silent_p.K239K|OPCML_uc001qgt.2_Silent_p.K238K|OPCML_uc010scl.1_Silent_p.K198K NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 239 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCAGGATGCCCTTCTGACCGA 0.393 NA 21 21 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790844 133790844 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:133790844G>T uc001qgx.3 - 18 3007 c.2776C>A c.(2776-2778)CCA>ACA p.P926T NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 926 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGTATGCTGGTGGTGGCAGG 0.706 NA 32 21 2.81e-11 3.65e-11 1 0 IQSEC3 440073 broad.mit.edu 37 12 266858 266858 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:266858G>A uc001qhw.1 + 4 1538 c.1532G>A c.(1531-1533)CGA>CAA p.R511Q IQSEC3_uc001qhu.1_Missense_Mutation_p.R511Q NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 814 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CGAAACCTTCGAGGTGAGGAG 0.587 NA 5 57 0 0 0 0 AKAP3 10566 broad.mit.edu 37 12 4747326 4747326 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:4747326C>T uc001qnb.3 - 3 266 c.37G>A c.(37-39)GGA>AGA p.G13R NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 13 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TTGCATACTCCATTTTGGCTT 0.408 NA 44 149 0 0 0 0 GAPDH 2597 broad.mit.edu 37 12 6646845 6646845 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:6646845C>A uc001qop.1 + 8 723 c.621C>A c.(619-621)ATC>ATA p.I207I GAPDH_uc009zep.1_Silent_p.I165I|GAPDH_uc001qoq.1_Silent_p.I132I|GAPDH_uc001qor.1_Silent_p.I166I|GAPDH_uc001qos.1_Silent_p.I207I|GAPDH_uc001qot.1_Silent_p.I207I|GAPDH_uc001qou.1_Silent_p.I166I|GAPDH_uc001qov.1_Silent_p.I165I|GAPDH_uc001qow.1_Silent_p.I160I|GAPDH_uc001qox.1_Silent_p.I33I NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 207 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) AGAACATCATCCCTGCCTCTA 0.622 NA OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 16 0.000308642 0.000338576 1 0 C1R 715 broad.mit.edu 37 12 7188341 7188341 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:7188341C>A uc010sfy.1 - 10 1672 c.1613G>T c.(1612-1614)CGC>CTC p.R538L NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 538 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTGACCCTGCGGATGGGGTG 0.552 NA 30 98 2.46e-21 3.58e-21 1 0 BCL2L14 79370 broad.mit.edu 37 12 12232294 12232294 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:12232294C>T uc001rac.2 + 2 256 c.55C>T c.(55-57)CTA>TTA p.L19L ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Silent_p.L19L|BCL2L14_uc001rae.2_Silent_p.L19L NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 19 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) TGATGATGACCTAAACACCAT 0.483 NA 13 96 0 0 0 0 LST-3TM12 338821 broad.mit.edu 37 12 21168707 21168707 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:21168707C>A uc010sin.1 + 1 78 c.78C>A c.(76-78)TTC>TTA p.F26L SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 26 membrane transporter activity 0 ATGGAAGCTTCGAAATAGGTA 0.249 NA 10 15 3.86e-05 4.34e-05 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43769237 43769237 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:43769237A>G uc010skx.1 - 36 5391 c.5391T>C c.(5389-5391)GCT>GCC p.A1797A NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1797 GON. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGTGTATCCAGCAGCTAAGT 0.338 NA 15 57 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846439 43846439 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:43846439G>C uc010skx.1 - 13 1820 c.1820C>G c.(1819-1821)ACT>AGT p.T607S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 607 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding p.T607T(1) central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACATGAATCAGTATTACATGA 0.403 NA 3 20 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43847820 43847820 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:43847820C>T uc010skx.1 - 12 1650 c.1650G>A c.(1648-1650)ACG>ACA p.T550T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 550 Disintegrin. proteinaceous extracellular matrix zinc ion binding p.T550M(1) central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GACGTGTTTCCGTTTCTTTGT 0.398 NA 4 34 0 0 0 0 ADCY6 112 broad.mit.edu 37 12 49164737 49164737 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:49164737C>A uc001rsh.3 - 19 3728 c.3068G>T c.(3067-3069)CGG>CTG p.R1023L ADCY6_uc001rsj.3_Missense_Mutation_p.R1023L|ADCY6_uc001rsi.3_Missense_Mutation_p.R970L|ADCY6_uc010slw.1_3'UTR NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 1023 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CTGCCGGAACCGCTCCTCGCT 0.577 NA 14 24 1.05e-09 1.33e-09 1 0 RHEBL1 121268 broad.mit.edu 37 12 49460759 49460759 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:49460759C>T uc001rtc.1 - 3 391 c.184G>A c.(184-186)GCA>ACA p.A62T RHEBL1_uc001rtd.1_Missense_Mutation_p.A58T|RHEBL1_uc009zlc.1_Intron NM_144593 NP_653194 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 precursor 62 GTP (By similarity). positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding lung(1)|breast(1) 2 ACCTGCCCTGCTGTGTCCACC 0.453 NA 5 66 0 0 0 0 LIMA1 51474 broad.mit.edu 37 12 50594642 50594642 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:50594642T>C uc001rwj.3 - 7 1064 c.890A>G c.(889-891)GAA>GGA p.E297G LIMA1_uc001rwg.3_5'UTR|LIMA1_uc001rwh.3_Missense_Mutation_p.E137G|LIMA1_uc001rwi.3_Missense_Mutation_p.E137G|LIMA1_uc001rwk.3_Missense_Mutation_p.E297G|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 297 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 AATTTTGATTTCGCCACCACT 0.388 NA 110 123 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52164414 52164414 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:52164414A>G uc001ryw.2 + 19 3770 c.3592A>G c.(3592-3594)AAC>GAC p.N1198D SCN8A_uc010snl.1_Missense_Mutation_p.N1063D NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1198 III.|Helical; Name=S1 of repeat III; (Potential). axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CGTGGAGCACAACTGGTTTGA 0.562 NA 7 44 0 0 0 0 RARG 5916 broad.mit.edu 37 12 53621207 53621207 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:53621207C>G uc001sce.2 - 3 608 c.123G>C c.(121-123)ATG>ATC p.M41I RARG_uc001scf.2_Missense_Mutation_p.M41I|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 41 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TAGGGCTCAGCATCTCGAAAG 0.627 NA 62 29 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53684657 53684657 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:53684657G>T uc001sck.2 + 25 5488 c.5397G>T c.(5395-5397)CTG>CTT p.L1799L ESPL1_uc001scj.2_Silent_p.L1474L NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1799 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 AGTCTGTGCTGGGCTGCTGGA 0.592 NA 8 11 1.07e-07 1.29e-07 1 0 SLC16A7 9194 broad.mit.edu 37 12 60168743 60168743 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:60168743A>G uc001sqs.2 + 5 966 c.667A>G c.(667-669)ATC>GTC p.I223V SLC16A7_uc001sqt.2_Missense_Mutation_p.I223V|SLC16A7_uc001squ.2_Missense_Mutation_p.I223V|SLC16A7_uc009zqi.2_Missense_Mutation_p.I124V|SLC16A7_uc010ssi.1_Missense_Mutation_p.I124V NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 223 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) CCCAAAGAAAATCAAAACGAA 0.363 NA 15 17 0 0 0 0 RASSF3 283349 broad.mit.edu 37 12 65088583 65088583 + Missense_Mutation SNP G G T rs147804503 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:65088583G>T uc001ssd.2 + 5 728 c.608G>T c.(607-609)CGC>CTC p.R203L RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.R133L NM_178169 NP_835463 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family 203 SARAH. signal transduction cytoplasm|microtubule identical protein binding 0 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) AATTTCTTGCGCATCTTGGAC 0.473 NA 39 56 2.27e-22 3.34e-22 1 0 BEST3 144453 broad.mit.edu 37 12 70087573 70087573 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:70087573C>A uc001svg.2 - 4 589 c.362G>T c.(361-363)GGG>GTG p.G121V BEST3_uc001svd.1_Missense_Mutation_p.G121V|BEST3_uc001sve.1_RNA|BEST3_uc010stm.1_Missense_Mutation_p.G15V|BEST3_uc001svh.2_5'UTR|BEST3_uc001svi.1_RNA NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 121 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) AAGCAGGCGCCCGTGCTCGTC 0.532 NA 15 30 1.52e-12 2.02e-12 1 0 TRHDE 29953 broad.mit.edu 37 12 72936127 72936127 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:72936127G>A uc001sxa.2 + 7 1674 c.1644G>A c.(1642-1644)AGG>AGA p.R548R NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 548 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTTTCCAGAGGGGTTTGCAAG 0.308 NA 16 20 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78400833 78400833 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:78400833G>A uc001syp.2 + 8 1688 c.1515G>A c.(1513-1515)TTG>TTA p.L505L NAV3_uc001syo.2_Silent_p.L505L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 505 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTGCAAGCTTGATCCCTAAGG 0.428 NA HNSCC(70;0.22) 35 29 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78553062 78553062 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:78553062A>C uc001syp.2 + 23 5038 c.4865A>C c.(4864-4866)CAA>CCA p.Q1622P NAV3_uc001syo.2_Missense_Mutation_p.Q1622P|NAV3_uc010sub.1_Missense_Mutation_p.Q1108P|NAV3_uc009zsf.2_Missense_Mutation_p.Q453P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1622 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACAGCGGAACAAAAGGTATGT 0.383 NA HNSCC(70;0.22) 13 42 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147793 82147793 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:82147793G>T uc001szo.1 - 3 369 c.208C>A c.(208-210)CGA>AGA p.R70R PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|lung(2)|pancreas(1) 6 AGTGAGTCTCGGTCATAGATG 0.468 NA 6 20 2.01e-06 2.35e-06 1 0 ALX1 8092 broad.mit.edu 37 12 85677506 85677506 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:85677506C>T uc001tae.3 + 2 387 c.383C>T c.(382-384)TCC>TTC p.S128F NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 128 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) AGCAATGTATCCAGCAGTAAG 0.478 NA 41 38 0 0 0 0 C12orf50 160419 broad.mit.edu 37 12 88381702 88381702 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:88381702G>A uc001tam.1 - 9 910 c.742C>T c.(742-744)CGA>TGA p.R248* C12orf50_uc001tan.2_Intron NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 248 skin(2)|ovary(1) 3 GGTACTAGTCGGGTAGTTAGG 0.343 NA 23 31 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104152959 104152959 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:104152959T>C uc001tjw.2 + 65 7342 c.7156T>C c.(7156-7158)TTT>CTT p.F2386L STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2386 Extracellular (Potential).|FAS1 7. 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 TGTCAGCATGTTTTTCTACAA 0.507 NA 58 51 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109684049 109684049 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:109684049C>A uc001tob.2 + 39 5486 c.5367C>A c.(5365-5367)ATC>ATA p.I1789I ACACB_uc001toc.2_Silent_p.I1789I|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.I455I NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1789 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GGGATGTGATCGTCATCGGCA 0.552 NA 39 33 1.57e-19 2.26e-19 1 0 ATXN2 6311 broad.mit.edu 37 12 111923529 111923529 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:111923529G>A uc001tsj.2 - 17 3087 c.2925C>T c.(2923-2925)AGC>AGT p.S975S ATXN2_uc001tsh.2_Silent_p.S710S|ATXN2_uc001tsi.2_Silent_p.S686S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.S161S NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 975 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 GCACGCCTGGGCTCACTGGGA 0.453 NA 16 56 0 0 0 0 NOS1 4842 broad.mit.edu 37 12 117685212 117685212 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:117685212C>T uc001twm.1 - 18 3450 c.2764G>A c.(2764-2766)GGG>AGG p.G922R NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 922 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGCTCATCCCCTTCCCTCATC 0.552 NA 54 61 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120173008 120173008 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:120173008C>A uc001txi.1 - 24 3040 c.2987G>T c.(2986-2988)CGG>CTG p.R996L CIT_uc001txh.1_Missense_Mutation_p.R530L|CIT_uc001txj.1_Missense_Mutation_p.R1038L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 996 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CGTGATCTCCCGGCGGAGATG 0.498 NA 31 88 4.32e-19 6.17e-19 1 0 PXN 5829 broad.mit.edu 37 12 120652757 120652757 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:120652757G>T uc001txt.2 - 9 1280 c.1149C>A c.(1147-1149)GTC>GTA p.V383V PXN_uc001txu.2_Silent_p.V195V|PXN_uc001txv.2_Silent_p.V264V|PXN_uc001txx.2_Silent_p.V216V|PXN_uc001txy.2_Silent_p.V349V|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 383 LIM zinc-binding 1. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTGGGTGCAGACGAAGTGCT 0.632 NA 4 23 0.00024832 0.000274217 1 0 PITPNM2 57605 broad.mit.edu 37 12 123485364 123485364 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:123485364G>A uc001uej.1 - 9 1324 c.1185C>T c.(1183-1185)TTC>TTT p.F395F PITPNM2_uc001uek.1_Silent_p.F395F|PITPNM2_uc009zxu.1_Silent_p.F395F NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 395 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AGGCCACCCTGAACTCAGGGG 0.652 NA 4 26 0 0 0 0 GTF2H3 2967 broad.mit.edu 37 12 124144433 124144433 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:124144433G>A uc001ufo.1 + 11 802 c.776G>A c.(775-777)CGA>CAA p.R259Q GTF2H3_uc010tau.1_Missense_Mutation_p.R218Q NM_001516 NP_001507 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 259 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) TTCTGTCATCGAAATCTCATT 0.413 NA NER 16 68 0 0 0 0 TCTN2 79867 broad.mit.edu 37 12 124191294 124191294 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:124191294G>T uc001ufp.2 + 16 1919 c.1791G>T c.(1789-1791)CAG>CAT p.Q597H TCTN2_uc009zya.2_Missense_Mutation_p.Q596H NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 597 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGAACTGGCAGTACCAGTGTG 0.502 NA 39 61 2.27e-22 3.34e-22 1 0 RIMBP2 23504 broad.mit.edu 37 12 130926460 130926460 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:130926460C>A uc001uil.2 - 8 1550 c.1386G>T c.(1384-1386)CCG>CCT p.P462P RIMBP2_uc001uim.2_Silent_p.P370P|RIMBP2_uc001uin.1_Silent_p.P121P NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 462 Fibronectin type-III 2. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGAGCTGCCACGGCATCTGGT 0.587 NA 22 32 2.4e-15 3.29e-15 1 0 EP400 57634 broad.mit.edu 37 12 132510276 132510276 + Silent SNP G G T rs79827647 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:132510276G>T uc001ujn.2 + 24 4976 c.4941G>T c.(4939-4941)GCG>GCT p.A1647A EP400_uc001ujl.2_Silent_p.A1646A|EP400_uc001ujm.2_Silent_p.A1566A NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1683 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGTCTCAGGCGGGCGCTGTGC 0.692 NA 5 24 1.24e-05 1.41e-05 1 0 CHFR 55743 broad.mit.edu 37 12 133433063 133433063 + Nonsense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:133433063G>C uc001ulf.2 - 10 1340 c.1256C>G c.(1255-1257)TCA>TGA p.S419* CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.S407*|CHFR_uc010tbs.1_Nonsense_Mutation_p.S419*|CHFR_uc001uld.2_Nonsense_Mutation_p.S378*|CHFR_uc010tbt.1_Nonsense_Mutation_p.S327* NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 419 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CCTAATGTCTGAGGACTCACT 0.537 NA 31 108 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39262131 39262131 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:39262131G>T uc001uwv.2 + 1 959 c.650G>T c.(649-651)CGC>CTC p.R217L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 217 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GAGGAGTGCCGCGTGGGCATC 0.682 NA 34 11 9.18e-22 1.34e-21 1 0 RB1 5925 broad.mit.edu 37 13 48941688 48941688 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:48941688C>T uc001vcb.2 + 10 1164 c.998C>T c.(997-999)GCA>GTA p.A333V RB1_uc010act.1_Missense_Mutation_p.A34V NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 333 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATCTAGATGCAAGATTATTT 0.284 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 48 29 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58298958 58298958 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:58298958G>C uc001vhq.1 + 4 3902 c.3010G>C c.(3010-3012)GAC>CAC p.D1004H PCDH17_uc010aec.1_Missense_Mutation_p.D1003H|PCDH17_uc001vhr.1_Missense_Mutation_p.D93H NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1004 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATTTGGAAAAGACAAGCGAGA 0.433 NA 55 23 0 0 0 0 PCDH20 64881 broad.mit.edu 37 13 61985813 61985813 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:61985813C>T uc001vid.3 - 2 2783 c.2419G>A c.(2419-2421)GAA>AAA p.E807K PCDH20_uc010thj.1_Missense_Mutation_p.E807K NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 780 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AATGCCTCTTCCAAAGTAATG 0.488 NA 81 30 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99092244 99092244 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:99092244G>T uc001vnj.2 + 22 2799 c.2463G>T c.(2461-2463)GTG>GTT p.V821V FARP1_uc001vnh.2_Silent_p.V852V NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 821 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGTGGGGGGTGCCCCACTGCC 0.617 NA 157 65 1.46e-73 2.29e-73 1 0 DOCK9 23348 broad.mit.edu 37 13 99481561 99481561 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:99481561C>G uc001vnt.2 - 43 4954 c.4899G>C c.(4897-4899)GAG>GAC p.E1633D DOCK9_uc001vnw.2_Missense_Mutation_p.E1632D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.E1633D|DOCK9_uc001vnq.2_Missense_Mutation_p.E205D|DOCK9_uc001vnr.2_Missense_Mutation_p.E276D|DOCK9_uc010tin.1_Missense_Mutation_p.E276D|DOCK9_uc001vns.2_Missense_Mutation_p.E205D|DOCK9_uc010tio.1_Missense_Mutation_p.E325D|DOCK9_uc010tip.1_Missense_Mutation_p.E343D|DOCK9_uc001vnu.1_Missense_Mutation_p.E205D|DOCK9_uc010tiq.1_Missense_Mutation_p.E611D NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1633 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGGCTACTACCTCTGAGAGAT 0.488 NA 4 2 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109793638 109793638 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:109793638C>A uc001vqt.1 + 32 5138 c.5012C>A c.(5011-5013)CCC>CAC p.P1671H MYO16_uc010agk.1_Missense_Mutation_p.P1693H NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1671 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTCAGCAGCCCCCTGGACGAG 0.672 NA 6 4 8.13e-05 9.08e-05 1 0 REM2 161253 broad.mit.edu 37 14 23354038 23354038 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:23354038G>C uc001whf.1 + 2 324 c.259G>C c.(259-261)GAC>CAC p.D87H REM2_uc010tnd.1_Missense_Mutation_p.D79H NM_173527 NP_775798 Q8IYK8 REM2_HUMAN rad and gem related GTP binding protein 2 87 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) AGATGAACTTGACTGGCCACC 0.622 NA 7 81 0 0 0 0 REM2 161253 broad.mit.edu 37 14 23355356 23355356 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:23355356G>A uc001whf.1 + 4 708 c.643G>A c.(643-645)GCT>ACT p.A215T REM2_uc010tnd.1_Missense_Mutation_p.G182D NM_173527 NP_775798 Q8IYK8 REM2_HUMAN rad and gem related GTP binding protein 2 215 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) TCGGCTCCGGGCTGGGAGGCC 0.597 NA 7 61 0 0 0 0 CTSG 1511 broad.mit.edu 37 14 25043923 25043923 + Silent SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:25043923T>C uc001wpq.2 - 3 334 c.297A>G c.(295-297)CAA>CAG p.Q99Q NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 99 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) GCTGATTATATTGAGGGTGGC 0.537 NA 104 28 0 0 0 0 STRN3 29966 broad.mit.edu 37 14 31405784 31405784 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:31405784C>A uc001wqu.2 - 6 979 c.763G>T c.(763-765)GAT>TAT p.D255Y STRN3_uc001wqv.2_Missense_Mutation_p.D255Y|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 255 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TCACTGTCATCGGCATTTTCT 0.363 NA 58 17 2.37e-18 3.34e-18 1 0 STRN3 29966 broad.mit.edu 37 14 31405799 31405799 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:31405799A>C uc001wqu.2 - 6 964 c.748T>G c.(748-750)TTC>GTC p.F250V STRN3_uc001wqv.2_Missense_Mutation_p.F250V|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 250 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTTTCTAAGAAATTGAACGTC 0.383 NA 51 17 0 0 0 0 CDKL1 8814 broad.mit.edu 37 14 50857053 50857053 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:50857053C>T uc010anu.1 - 6 856 c.856G>A c.(856-858)GGT>AGT p.G286S CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) TGTCCTTGACCTCCAACTCCG 0.478 NA 21 34 0 0 0 0 FBXO34 55030 broad.mit.edu 37 14 55818402 55818402 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:55818402G>A uc001xbu.2 + 2 1539 c.1294G>A c.(1294-1296)GTT>ATT p.V432I FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.V432I NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 432 ovary(2)|lung(2)|skin(1) 5 CACAGATGCTGTTGATTGTAT 0.418 NA 16 282 0 0 0 0 DACT1 51339 broad.mit.edu 37 14 59112862 59112862 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:59112862A>G uc001xdw.2 + 4 1685 c.1521A>G c.(1519-1521)AAA>AAG p.K507K DACT1_uc010trv.1_Silent_p.K226K|DACT1_uc001xdx.2_Silent_p.K470K|DACT1_uc010trw.1_Silent_p.K226K NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 507 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 AGCCCCTGAAAAAGATGTCAC 0.592 NA 159 29 0 0 0 0 C14orf149 112849 broad.mit.edu 37 14 59950740 59950741 + Missense_Mutation DNP CC CC AA TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:59950740_59950741CC>AA uc001xee.1 - 1 333_334 c.294_295GG>TT c.(292-297)GAGGGC>GATTGC p.98_99EG>DC C14orf149_uc010trx.1_Missense_Mutation_p.98_99EG>DC|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank NM_144581 NP_653182 Q96EM0 PRCM_HUMAN proline racemase-like 98_99 proline racemase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.14) L-Proline(DB00172) GAGCTGTAGCCCTCGTTGTGCA 0.708 NA OREG0022712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 21 0 0 0 0 PPM1A 5494 broad.mit.edu 37 14 60756619 60756619 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:60756619G>T uc010apn.2 + 5 1450 c.1048G>T c.(1048-1050)GAA>TAA p.E350* PPM1A_uc001xew.3_Nonsense_Mutation_p.E423*|PPM1A_uc001xey.3_Nonsense_Mutation_p.E350* NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 350 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) ACCAGGGGGTGAATTGGCAAG 0.438 NA 28 37 8.58e-18 1.2e-17 1 0 SPTB 6710 broad.mit.edu 37 14 65268548 65268548 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:65268548G>A uc001xht.2 - 5 625 c.571C>T c.(571-573)CCT>TCT p.P191S SPTB_uc001xhr.2_Missense_Mutation_p.P191S|SPTB_uc001xhs.2_Missense_Mutation_p.P191S|SPTB_uc001xhu.2_Missense_Mutation_p.P191S NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 191 Actin-binding.|CH 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTAACATGAGGGTAGCTGCAT 0.463 NA OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 129 17 0 0 0 0 C14orf115 55237 broad.mit.edu 37 14 74825284 74825284 + Missense_Mutation SNP G G A rs45447993 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:74825284G>A uc001xpw.3 + 2 1989 c.1798G>A c.(1798-1800)GAG>AAG p.E600K NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 600 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AGAAGATGTAGAGGGAGGGCC 0.662 NA 52 20 0 0 0 0 ISM2 145501 broad.mit.edu 37 14 77948965 77948965 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:77948965C>A uc001xtz.2 - 4 747 c.673G>T c.(673-675)GAC>TAC p.D225Y ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.D137Y|ISM2_uc010tvl.1_Missense_Mutation_p.D144Y NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 225 extracellular region skin(1) 1 GCCAACAGGTCTATCGACACC 0.612 NA 107 151 1.07e-41 1.66e-41 1 0 SEL1L 6400 broad.mit.edu 37 14 81953772 81953772 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:81953772C>T uc010tvv.1 - 16 1711 c.1594G>A c.(1594-1596)GGC>AGC p.G532S NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 532 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 9. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) ACGCCGGTGCCACTGGCATGC 0.478 NA 60 17 0 0 0 0 FLRT2 23768 broad.mit.edu 37 14 86088031 86088031 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:86088031C>G uc001xvr.2 + 2 940 c.173C>G c.(172-174)CCT>CGT p.P58R FLRT2_uc010atd.2_Missense_Mutation_p.P58R NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 58 Extracellular (Potential).|LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) ACCTCAGTGCCTCTTGGGATC 0.522 NA 157 48 0 0 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157458 100157458 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:100157458G>T uc001ygo.2 + 2 160 c.160G>T c.(160-162)GAG>TAG p.E54* CYP46A1_uc001ygn.1_Missense_Mutation_p.M1I NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 54 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) GAAAAAGGATGAGGTTGGTGG 0.502 NA 76 115 3.64e-30 5.54e-30 1 0 DEGS2 123099 broad.mit.edu 37 14 100615483 100615483 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:100615483G>C uc001ygx.2 - 2 735 c.647C>G c.(646-648)TCC>TGC p.S216C NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN degenerative spermatocyte homolog 2, lipid 216 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity 0 Melanoma(154;0.212) GCCCAGGAAGGAGCTGGCCAG 0.647 NA 83 17 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419983 105419983 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:105419983C>A uc010axc.1 - 7 1925 c.1805G>T c.(1804-1806)AGA>ATA p.R602I AHNAK2_uc001ypx.2_Missense_Mutation_p.R502I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 602 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCTTTTTCTCTGCCTGTCTT 0.502 NA 49 542 6.03e-31 9.2e-31 1 0 MKRN3 7681 broad.mit.edu 37 15 23811411 23811411 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:23811411C>A uc001ywh.3 + 1 958 c.482C>A c.(481-483)CCG>CAG p.P161Q MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P161Q NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 161 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GAAGCCCCCCCGGCTGCATCC 0.642 NA 17 24 1.15e-07 1.38e-07 1 0 MKRN3 7681 broad.mit.edu 37 15 23811593 23811593 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:23811593G>T uc001ywh.3 + 1 1140 c.664G>T c.(664-666)GAG>TAG p.E222* MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.E222* NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 222 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) ATCTGCCCCCGAGGCTCCTCT 0.597 NA 10 24 0.000978159 0.00105749 1 0 C15orf2 23742 broad.mit.edu 37 15 24922301 24922301 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:24922301G>T uc001ywo.2 + 1 1761 c.1287G>T c.(1285-1287)TTG>TTT p.L429F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 429 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCCCTGACTTGGCTGACCTGG 0.542 NA 32 56 2.08e-15 2.87e-15 1 0 GABRA5 2558 broad.mit.edu 37 15 27128609 27128609 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:27128609C>T uc001zbd.1 + 7 741 c.402C>T c.(400-402)TTC>TTT p.F134F GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 134 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGACACGTTCTTCCACAACG 0.572 NA 6 47 0 0 0 0 MTMR15 22909 broad.mit.edu 37 15 31197880 31197880 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:31197880G>A uc001zff.2 + 2 1305 c.1014G>A c.(1012-1014)GAG>GAA p.E338E MTMR15_uc001zfc.3_Silent_p.E338E|MTMR15_uc010azw.2_Silent_p.E338E|MTMR15_uc001zfd.3_Silent_p.E338E|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 338 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) ACATCCAAGAGGCTCCTCTGC 0.458 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 30 68 0 0 0 0 SLC12A6 9990 broad.mit.edu 37 15 34543234 34543234 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:34543234G>T uc001zhw.2 - 10 1522 c.1358C>A c.(1357-1359)CCC>CAC p.P453H SLC12A6_uc001zhv.2_Missense_Mutation_p.P402H|SLC12A6_uc001zhx.2_Missense_Mutation_p.P438H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.P394H|SLC12A6_uc001zib.2_Missense_Mutation_p.P444H|SLC12A6_uc001zic.2_Missense_Mutation_p.P453H|SLC12A6_uc010bau.2_Missense_Mutation_p.P453H|SLC12A6_uc001zid.2_Missense_Mutation_p.P394H|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.P265H NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 453 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTCTCCCTTGGGTAGGTAATT 0.383 NA 28 53 2.49e-23 3.69e-23 1 0 C15orf55 256646 broad.mit.edu 37 15 34640393 34640393 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:34640393C>T uc001zif.2 + 2 395 c.240C>T c.(238-240)CTC>CTT p.L80L C15orf55_uc010ucc.1_Silent_p.L108L|C15orf55_uc010ucd.1_Silent_p.L98L NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 80 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GCCCTTGCCTCAGTGGGGCTG 0.557 NA T BRD3|BRD4 lethal midline carcinoma 29 121 0 0 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852064 38852064 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:38852064C>T uc001zke.3 - 2 356 c.178G>A c.(178-180)GCC>ACC p.A60T RASGRP1_uc001zkd.3_Missense_Mutation_p.A60T NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 60 Ras exchanger motif region; required for transforming activity (By similarity).|N-terminal Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TCCAGGCTGGCTCCTTTGGCT 0.502 NA 11 34 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42117604 42117604 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:42117604C>T uc001zok.3 + 32 4801 c.4515C>T c.(4513-4515)GCC>GCT p.A1505A MAPKBP1_uc001zoj.3_Silent_p.A1499A|MAPKBP1_uc010bcj.2_Silent_p.A1006A|MAPKBP1_uc010bci.2_Silent_p.A1222A|MAPKBP1_uc010udb.1_Silent_p.A1338A|MAPKBP1_uc010bck.2_Silent_p.A716A|MAPKBP1_uc010bcl.2_Silent_p.A1004A|JMJD7-PLA2G4B_uc010bcm.1_5'Flank|JMJD7-PLA2G4B_uc001zom.2_5'Flank|JMJD7-PLA2G4B_uc001zon.2_5'Flank|JMJD7-PLA2G4B_uc001zoo.3_5'Flank|JMJD7-PLA2G4B_uc010bcn.2_5'Flank NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1505 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TGCTTCGAGCCGTGGAACGGC 0.607 NA 13 22 0 0 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42278076 42278076 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:42278076G>A uc001zow.1 - 17 2076 c.2076C>T c.(2074-2076)CTC>CTT p.L692L PLA2G4E_uc010udc.1_Silent_p.L164L|PLA2G4E_uc001zov.1_Silent_p.L345L NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 709 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GGTGGATGATGAGGTCGGCTT 0.617 NA 6 10 0 0 0 0 TTBK2 146057 broad.mit.edu 37 15 43122142 43122142 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:43122142G>C uc001zqo.2 - 5 865 c.426C>G c.(424-426)ATC>ATG p.I142M TTBK2_uc010bcy.2_Missense_Mutation_p.I73M|TTBK2_uc001zqp.2_Missense_Mutation_p.I142M|TTBK2_uc010bcz.1_Missense_Mutation_p.I142M NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 142 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTACCGGTTTGATGTCTCGAT 0.408 NA 24 65 0 0 0 0 SLC28A2 9153 broad.mit.edu 37 15 45560574 45560574 + Nonsense_Mutation SNP C C T rs142426040 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:45560574C>T uc001zva.2 + 13 1431 c.1366C>T c.(1366-1368)CAG>TAG p.Q456* NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 456 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GCTCACTTTCCAGGTAAAGGA 0.438 NA 65 97 0 0 0 0 SCG3 29106 broad.mit.edu 37 15 51984366 51984366 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:51984366C>A uc002abh.2 + 7 1109 c.701C>A c.(700-702)GCA>GAA p.A234E SCG3_uc010ufz.1_Missense_Mutation_p.A2E NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 234 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) ACTCCAATGGCAGCAATTCAA 0.378 NA 17 98 1.64e-05 1.86e-05 1 0 UNC13C 440279 broad.mit.edu 37 15 54305610 54305610 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:54305610G>T uc002ack.2 + 1 510 c.510G>T c.(508-510)GAG>GAT p.E170D NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 170 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGACGGGGAGCGTACTCTAC 0.473 NA 25 70 1.43e-11 1.86e-11 1 0 GCOM1 145781 broad.mit.edu 37 15 57929944 57929944 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:57929944G>A uc002aei.2 + 9 1104 c.985G>A c.(985-987)GGG>AGG p.G329R GCOM1_uc002aej.2_Missense_Mutation_p.G329R|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.G329R|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.G329R|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN GRINL1A upstream protein isoform 7 329 Potential. intracellular signal transduction extrinsic to internal side of plasma membrane|I band ovary(1) 1 AGAAATGTCTGGGGAGTTAAC 0.383 NA 6 9 0 0 0 0 NOX5 79400 broad.mit.edu 37 15 69347810 69347810 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:69347810C>T uc002ars.1 + 15 2156 c.2136C>T c.(2134-2136)CGC>CGT p.R712R NOX5_uc002arp.1_Silent_p.R694R|NOX5_uc002arq.1_Silent_p.R666R|NOX5_uc010bid.1_Silent_p.R677R|NOX5_uc002arr.1_Silent_p.R684R|NOX5_uc010bie.1_Silent_p.R512R|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 712 Extracellular (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 TGCAGACGCGCACCCAGCCTG 0.607 NA 18 27 0 0 0 0 ISL2 64843 broad.mit.edu 37 15 76630854 76630854 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:76630854C>A uc002bbw.1 + 3 588 c.510C>A c.(508-510)CCC>CCA p.P170P NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 170 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGCATCTGCCCGGTAAGCGCG 0.468 NA 18 22 3.53e-06 4.11e-06 1 0 IREB2 3658 broad.mit.edu 37 15 78758820 78758820 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:78758820A>G uc002bdr.2 + 5 780 c.618A>G c.(616-618)CAA>CAG p.Q206Q IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.Q206Q NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 206 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTCATTTGCAACCAGTGCCTG 0.383 NA 23 51 0 0 0 0 IREB2 3658 broad.mit.edu 37 15 78765606 78765606 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:78765606A>G uc002bdr.2 + 8 1068 c.906A>G c.(904-906)GAA>GAG p.E302E IREB2_uc010unb.1_Silent_p.E52E|IREB2_uc002bdq.2_Silent_p.E302E NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 302 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTGAAACAGAAGCAGTTATGC 0.388 NA 50 117 0 0 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059741 79059741 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:79059741C>A uc002bej.3 - 18 3050 c.2839G>T c.(2839-2841)GCT>TCT p.A947S ADAMTS7_uc010und.1_Intron NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 947 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TTCCCCACAGCCCAGGTGGCC 0.652 NA 16 19 9.17e-09 1.14e-08 1 0 ZFAND6 54469 broad.mit.edu 37 15 80423525 80423525 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:80423525C>T uc002bfe.1 + 6 679 c.368C>T c.(367-369)TCA>TTA p.S123L ZFAND6_uc002bff.1_Missense_Mutation_p.S123L|ZFAND6_uc002bfg.1_Missense_Mutation_p.S111L|ZFAND6_uc002bfh.1_Missense_Mutation_p.S123L|ZFAND6_uc002bfi.1_Missense_Mutation_p.S123L NM_019006 NP_061879 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 123 DNA binding|zinc ion binding 0 TTGTTAGCTTCAGTATCAGAC 0.393 NA 9 94 0 0 0 0 ZNF592 9640 broad.mit.edu 37 15 85326320 85326320 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:85326320C>T uc002bld.2 + 4 750 c.414C>T c.(412-414)TTC>TTT p.F138F ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 138 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) TACCCACCTTCAACCAGTTCA 0.478 NA 42 139 0 0 0 0 SLC28A1 9154 broad.mit.edu 37 15 85431063 85431063 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:85431063G>T uc002blg.2 + 3 274 c.72G>T c.(70-72)ATG>ATT p.M24I SLC28A1_uc010upd.1_5'UTR|SLC28A1_uc010bnb.2_Missense_Mutation_p.M24I|SLC28A1_uc010upe.1_Missense_Mutation_p.M24I|SLC28A1_uc010upf.1_Missense_Mutation_p.M24I|SLC28A1_uc010upg.1_Missense_Mutation_p.M24I|SLC28A1_uc002blf.2_Missense_Mutation_p.M24I NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 24 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGGAGAACATGGGGGCTGATT 0.567 NA 31 50 1.83e-34 2.8e-34 1 0 RHCG 51458 broad.mit.edu 37 15 90019999 90019999 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:90019999G>T uc002bnz.2 - 9 1322 c.1298C>A c.(1297-1299)GCG>GAG p.A433E RHCG_uc002bny.2_Missense_Mutation_p.A204E|RHCG_uc002boa.2_RNA NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 433 Cytoplasmic (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) CCAGTAGACCGCATCCTCAAA 0.562 NA 26 50 2.09e-25 3.14e-25 1 0 TELO2 9894 broad.mit.edu 37 16 1552736 1552736 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:1552736G>T uc002cly.2 + 14 2035 c.1744G>T c.(1744-1746)GCC>TCC p.A582S NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 582 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) AGCCCTGGTGGCCGTCACGGT 0.672 NA 33 92 1.59e-26 2.39e-26 1 0 ZNF200 7752 broad.mit.edu 37 16 3274518 3274518 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:3274518C>T uc002cuj.2 - 5 1194 c.562G>A c.(562-564)GAT>AAT p.D188N ZNF200_uc002cum.3_Missense_Mutation_p.D187N|ZNF200_uc010bti.2_Missense_Mutation_p.D187N|ZNF200_uc002cuk.2_Missense_Mutation_p.D188N|ZNF200_uc002cui.2_Missense_Mutation_p.D187N|ZNF200_uc002cul.3_Missense_Mutation_p.D187N NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AAGGAAGAATCCATTTCATCA 0.398 NA 34 57 0 0 0 0 A2BP1 54715 broad.mit.edu 37 16 7102088 7102088 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:7102088G>A uc002cys.2 + 4 1004 c.16G>A c.(16-18)GAG>AAG p.E6K A2BP1_uc010buf.1_Missense_Mutation_p.E6K|A2BP1_uc002cyr.1_Missense_Mutation_p.E6K|A2BP1_uc002cyt.2_Missense_Mutation_p.E6K|A2BP1_uc010uxz.1_Missense_Mutation_p.E49K|A2BP1_uc010uya.1_Missense_Mutation_p.E42K|A2BP1_uc002cyv.1_Missense_Mutation_p.E6K|A2BP1_uc010uyb.1_Missense_Mutation_p.E6K NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 6 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TTGTGAAAGAGAGCAGCTAAG 0.398 NA 8 17 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923430 9923430 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:9923430G>T uc002czo.3 - 9 2405 c.1857C>A c.(1855-1857)GTC>GTA p.V619V GRIN2A_uc010uym.1_Silent_p.V619V|GRIN2A_uc010uyn.1_Silent_p.V462V|GRIN2A_uc002czr.3_Silent_p.V619V NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 619 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGGATTCTGGACAGGCACGG 0.488 NA 34 64 4.32e-19 6.17e-19 1 0 GPR139 124274 broad.mit.edu 37 16 20043241 20043241 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:20043241C>T uc002dgu.1 - 2 1040 c.878G>A c.(877-879)CGC>CAC p.R293H GPR139_uc010vaw.1_Missense_Mutation_p.R200H NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 293 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 TGCCATGGTGCGGAACCGCTT 0.512 NA 51 98 0 0 0 0 OTOA 146183 broad.mit.edu 37 16 21696600 21696600 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:21696600T>A uc002djh.2 + 6 318 c.317T>A c.(316-318)CTG>CAG p.L106Q uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.L27Q NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 106 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CCCCAGAAGCTGCTGGAGGAC 0.577 NA 28 32 0 0 0 0 EEF2K 29904 broad.mit.edu 37 16 22271832 22271832 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:22271832T>G uc002dki.2 + 11 1766 c.1281T>G c.(1279-1281)GAT>GAG p.D427E EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 427 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) GAGACCATGATCATCTAGACA 0.542 NA 60 91 0 0 0 0 PALB2 79728 broad.mit.edu 37 16 23647270 23647270 + Silent SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:23647270A>C uc002dlx.1 - 4 797 c.597T>G c.(595-597)CTT>CTG p.L199L NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 199 Interaction with RAD51.|Interaction with BRCA1. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) TAAGACTTAAAAGGTGAGTTC 0.378 NA F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 93 135 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800997 24800997 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:24800997G>C uc002dmm.2 + 6 1148 c.1034G>C c.(1033-1035)TGG>TCG p.W345S TNRC6A_uc010bxs.2_Missense_Mutation_p.W92S|TNRC6A_uc010vcc.1_Missense_Mutation_p.W92S|TNRC6A_uc002dmn.2_Missense_Mutation_p.W92S|TNRC6A_uc002dmo.2_Missense_Mutation_p.W92S NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 345 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Ser-rich.|Sufficient for interaction with EIF2C2. W->A: Does not impair interaction with EIF2C2; when associated with A-313; A- 370; A-420 and A-483. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ATGAATGCTTGGGGCACTGTA 0.438 NA 45 101 0 0 0 0 C16orf93 90835 broad.mit.edu 37 16 30770417 30770417 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:30770417C>T uc002dzm.2 - 8 1064 c.733G>A c.(733-735)GAA>AAA p.E245K C16orf93_uc002dzn.2_Missense_Mutation_p.E310K|C16orf93_uc002dzo.2_Missense_Mutation_p.E208K NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 245 0 TTGCTTTCTTCTTTCTCTGCA 0.597 NA 163 144 0 0 0 0 C16orf93 90835 broad.mit.edu 37 16 30770423 30770423 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:30770423C>T uc002dzm.2 - 8 1059 c.728_splice c.e8-1 p.E243_splice C16orf93_uc002dzn.2_Splice_Site_p.E308_splice|C16orf93_uc002dzo.2_Splice_Site_p.E206_splice NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 0 TCTTCTTTCTCTGCAAACCAG 0.587 NA 148 139 0 0 0 0 C16orf93 90835 broad.mit.edu 37 16 30771764 30771764 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:30771764C>G uc002dzm.2 - 4 641 c.310G>C c.(310-312)GAG>CAG p.E104Q C16orf93_uc002dzn.2_Missense_Mutation_p.E104Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E67Q|C16orf93_uc002dzp.2_Missense_Mutation_p.E104Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 104 0 TCCAGCAGCTCAGCCAGCACC 0.597 NA 33 40 0 0 0 0 PRSS8 5652 broad.mit.edu 37 16 31143906 31143906 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:31143906C>T uc002ebc.3 - 5 881 c.549G>A c.(547-549)CTG>CTA p.L183L PRSS8_uc010vfe.1_Silent_p.L129L NM_002773 NP_002764 Q16651 PRSS8_HUMAN prostasin preproprotein 183 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity 0 GCTTGGGCGTCAGGAGGCTCA 0.612 NA 37 40 0 0 0 0 CDH1 999 broad.mit.edu 37 16 68842735 68842735 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:68842735G>A uc002ewg.1 + 5 795 c.671G>A c.(670-672)CGC>CAC p.R224H CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.R224H NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 224 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GATAGAGAACGCATTGCCACA 0.483 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 4 30 0 0 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366417 7366417 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7366417C>A uc002ghc.3 - 4 2134 c.1884G>T c.(1882-1884)CTG>CTT p.L628L ZBTB4_uc002ghd.3_Silent_p.L628L NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 628 Glu-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) cctcTCCGCTCAGCTCCCCAG 0.398 NA 6 7 0.00307968 0.00328896 1 0 TP53 7157 broad.mit.edu 37 17 7577569 7577569 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7577569A>T uc002gim.2 - 7 906 c.712T>A c.(712-714)TGT>AGT p.C238S TP53_uc002gig.1_Missense_Mutation_p.C238S|TP53_uc002gih.2_Missense_Mutation_p.C238S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106S|TP53_uc010cng.1_Missense_Mutation_p.C106S|TP53_uc002gii.1_Missense_Mutation_p.C106S|TP53_uc010cnh.1_Missense_Mutation_p.C238S|TP53_uc010cni.1_Missense_Mutation_p.C238S|TP53_uc002gij.2_Missense_Mutation_p.C238S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145S|TP53_uc002gio.2_Missense_Mutation_p.C106S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 238 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (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.C238Y(47)|p.C238F(32)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238del(1)|p.C238G(1)|p.C238fs*21(1)|p.C238C(1)|p.M237fs*1(1)|p.H233fs*6(1)|p.H233_C242del10(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) GAACTGTTACACATGTAGTTG 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 54 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7662908 7662908 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7662908C>G uc002giu.1 + 15 2631 c.2617C>G c.(2617-2619)CTG>GTG p.L873V NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 873 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAAGAATGATCTGCAAGGAAG 0.448 NA 10 98 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7814256 7814256 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7814256A>G uc002gje.2 + 39 5996 c.5846A>G c.(5845-5847)AAT>AGT p.N1949S CHD3_uc002gjd.2_Missense_Mutation_p.N2008S|CHD3_uc002gjf.2_Missense_Mutation_p.N1915S|CHD3_uc002gjh.2_Missense_Mutation_p.N526S|CHD3_uc002gjj.2_Missense_Mutation_p.N112S NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1949 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GCAGGCGCCAATTACAGCCAG 0.632 NA 63 92 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8451705 8451705 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:8451705G>A uc002gll.2 - 10 1151 c.1055C>T c.(1054-1056)TCA>TTA p.S352L MYH10_uc002glm.2_Missense_Mutation_p.S362L|MYH10_uc010cnx.2_Missense_Mutation_p.S361L NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 352 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CTGTAGCACTGAAGATACTAC 0.299 NA 52 49 0 0 0 0 GLP2R 9340 broad.mit.edu 37 17 9792910 9792910 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:9792910C>A uc002gmd.1 + 13 1550 c.1550C>A c.(1549-1551)CCC>CAC p.P517H NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 517 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GGCGCCCAGCCCCAACAGGAC 0.632 NA 24 29 1.11e-09 1.4e-09 1 0 MYH13 8735 broad.mit.edu 37 17 10206572 10206572 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10206572C>A uc002gmk.1 - 39 5698 c.5608G>T c.(5608-5610)GAC>TAC p.D1870Y NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1870 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCCACCAGGTCCTGGAGCCTA 0.582 NA 92 154 1.12e-47 1.74e-47 1 0 MYH8 4626 broad.mit.edu 37 17 10310220 10310220 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10310220G>A uc002gmm.2 - 18 2137 c.2042C>T c.(2041-2043)ACC>ATC p.T681I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 681 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 AGGAGTTTTGGTTTCATTGGG 0.388 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 8 65 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10364260 10364260 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10364260C>A uc002gmn.2 - 12 1231 c.1120G>T c.(1120-1122)GAG>TAG p.E374* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 374 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(10)|skin(2)|central_nervous_system(1) 13 TCTGCCTGCTCTTCCCTTTGC 0.493 NA 50 89 9.22e-22 1.35e-21 1 0 MYH4 4622 broad.mit.edu 37 17 10366498 10366498 + Silent SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10366498T>C uc002gmn.2 - 10 924 c.813A>G c.(811-813)CTA>CTG p.L271L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 271 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(10)|skin(2)|central_nervous_system(1) 13 GGGACTTCTCTAGCAGATCTG 0.353 NA 26 43 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10554888 10554888 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10554888T>A uc002gmq.1 - 4 523 c.446A>T c.(445-447)CAG>CTG p.Q149L NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 149 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TGGGGCCTCCTGGCGCTTTTT 0.577 NA 86 180 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18030103 18030103 + Splice_Site SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:18030103A>G uc010vxh.1 + 6 4205 c.3867_splice c.e6-2 p.P1289_splice NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CTGTCTCCCCAGGCACCTCTT 0.552 NA 52 97 0 0 0 0 FBXW10 10517 broad.mit.edu 37 17 18653137 18653137 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:18653137T>C uc002guk.2 + 3 1005 c.773T>C c.(772-774)TTG>TCG p.L258S FBXW10_uc002guj.2_Missense_Mutation_p.L258S|FBXW10_uc002gul.2_Missense_Mutation_p.L258S|FBXW10_uc010cqh.1_Missense_Mutation_p.L258S NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 258 ovary(1) 1 TGCAATCTATTGGTTGACCTG 0.468 NA 50 162 0 0 0 0 MAP2K3 5606 broad.mit.edu 37 17 21205550 21205550 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:21205550C>A uc002gys.2 + 6 760 c.495C>A c.(493-495)ATC>ATA p.I165I MAP2K3_uc002gyt.2_Silent_p.I136I|MAP2K3_uc002gyu.2_Silent_p.I136I NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 165 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAGAGGACATCCTTGGGGAGA 0.582 NA 16 52 6.5e-13 8.65e-13 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318731 21318732 + Missense_Mutation DNP CG CG TC TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:21318731_21318732CG>TC uc002gyv.1 + 3 782_783 c.77_78CG>TC c.(76-78)TCG>TTC p.S26F NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 26 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) GTCACCATGTCGGGCGCCAACG 0.658 NA Prostate(3;0.18) 4 45 0 0 0 0 NOS2 4843 broad.mit.edu 37 17 26084314 26084314 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:26084314C>A uc002gzu.2 - 27 3684 c.3420G>T c.(3418-3420)AGG>AGT p.R1140S NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 1140 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCACCGCCACCCTGTCCTTCT 0.537 NA OREG0024267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 57 4.53e-37 6.97e-37 1 0 SUPT6H 6830 broad.mit.edu 37 17 27008409 27008409 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:27008409G>T uc002hby.2 + 12 1575 c.1485G>T c.(1483-1485)GAG>GAT p.E495D SUPT6H_uc010crt.2_Missense_Mutation_p.E495D NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 495 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TCAGGGAAGAGGGAGATGAAG 0.338 NA 24 41 6.13e-19 8.71e-19 1 0 ACCN1 40 broad.mit.edu 37 17 31340990 31340990 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:31340990G>T uc002hhu.2 - 10 1806 c.1532C>A c.(1531-1533)GCC>GAC p.A511D ACCN1_uc002hht.2_Missense_Mutation_p.A562D NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 511 Cytoplasmic (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GTGTCAGCAGGCAATCTCCTC 0.572 NA 4 6 1.24e-05 1.41e-05 1 0 CCL1 6346 broad.mit.edu 37 17 32690143 32690143 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:32690143A>T uc002hid.1 - 1 110 c.38T>A c.(37-39)CTA>CAA p.L13Q NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 13 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) CATCCCAGCTAGCAGCAAGCA 0.562 NA 20 30 0 0 0 0 SLFN13 146857 broad.mit.edu 37 17 33768373 33768373 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:33768373G>A uc002hjk.1 - 4 2265 c.1935C>T c.(1933-1935)ATC>ATT p.I645I SLFN13_uc010wch.1_Silent_p.I645I|SLFN13_uc002hjl.2_Silent_p.I645I|SLFN13_uc010ctt.2_Silent_p.I327I|SLFN13_uc002hjm.2_Silent_p.I314I NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 645 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTGCTCGGCAGATATTTCTAT 0.388 NA 26 53 0 0 0 0 TOP2A 7153 broad.mit.edu 37 17 38564238 38564238 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:38564238C>A uc002huq.2 - 12 1607 c.1481G>T c.(1480-1482)CGA>CTA p.R494L TOP2A_uc002hur.1_Missense_Mutation_p.R135L NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 494 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) AGAAGCTTCTCGAACATTGAG 0.373 NA 36 68 1.6e-28 2.42e-28 1 0 KRT10 3858 broad.mit.edu 37 17 38975866 38975866 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:38975866C>G uc002hvi.2 - 6 1302 c.1276G>C c.(1276-1278)GAG>CAG p.E426Q KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 426 Rod.|Gly-rich.|Coil 2. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) TTCTGGCACTCGGTTTCAGCT 0.483 NA 6 135 0 0 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847817 40847817 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:40847817A>T uc002iay.2 + 19 3487 c.3271A>T c.(3271-3273)AGC>TGC p.S1091C CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 1091 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTTCAGCACCAGCTCCGCCCC 0.617 NA 34 47 0 0 0 0 G6PC 2538 broad.mit.edu 37 17 41052904 41052904 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:41052904G>A uc002icb.1 + 1 90 c.11G>A c.(10-12)GGA>GAA p.G4E LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Missense_Mutation_p.G6E NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 4 Lumenal (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ATGGAGGAAGGAATGAATGTT 0.498 NA Glycogen_Storage_Disease_type_Ia 10 46 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48676874 48676874 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:48676874G>T uc002irk.1 + 17 3716 c.3344G>T c.(3343-3345)CGT>CTT p.R1115L CACNA1G_uc002iri.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irj.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irl.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irm.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irn.1_Missense_Mutation_p.R1092L|CACNA1G_uc002iro.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irp.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irq.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irr.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irs.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irt.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irv.1_Missense_Mutation_p.R1115L|CACNA1G_uc002irw.1_Missense_Mutation_p.R1092L|CACNA1G_uc002iru.1_Missense_Mutation_p.R1092L|CACNA1G_uc002irx.1_Missense_Mutation_p.R1028L|CACNA1G_uc002iry.1_Missense_Mutation_p.R1028L|CACNA1G_uc002irz.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isa.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isb.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isc.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isd.1_Missense_Mutation_p.R1028L|CACNA1G_uc002ise.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isf.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isg.1_Missense_Mutation_p.R1028L|CACNA1G_uc002ish.1_Missense_Mutation_p.R1028L|CACNA1G_uc002isi.1_Missense_Mutation_p.R1005L|CACNA1G_uc002isj.2_5'UTR NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1115 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCCTCGGCCGTGCACCCAGC 0.677 NA 10 9 4.69e-08 5.73e-08 1 0 C17orf47 284083 broad.mit.edu 37 17 56620307 56620309 + Missense_Mutation TNP GGC GGC TTT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:56620307_56620309GGC>TTT uc002iwq.1 - 1 1375_1377 c.1239_1241GCC>AAA c.(1237-1242)TTGCCT>TTAAAT p.P414N SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 414 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGACCGAGGAGGCAAGGGCCTAG 0.527 NA 24 79 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58258936 58258936 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:58258936T>A uc002iyo.1 - 32 4583 c.4297A>T c.(4297-4299)AAT>TAT p.N1433Y USP32_uc002iyn.1_Missense_Mutation_p.N1103Y NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1433 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CCAGCCCCATTTTCTTTGCTG 0.552 NA 17 55 0 0 0 0 ACE 1636 broad.mit.edu 37 17 61557822 61557822 + Silent SNP C C T rs4302 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:61557822C>T uc002jau.1 + 5 802 c.780C>T c.(778-780)CGC>CGT p.R260R ACE_uc010wpi.1_Silent_p.R260R|ACE_uc010ddu.1_Silent_p.R77R NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 260 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TCGTCCGCCGCGCACTGCATC 0.607 NA 31 65 0 0 0 0 TEX2 55852 broad.mit.edu 37 17 62291328 62291328 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:62291328C>A uc002jec.2 - 2 423 c.250G>T c.(250-252)GAC>TAC p.D84Y TEX2_uc002jed.2_Missense_Mutation_p.D84Y|TEX2_uc002jee.2_Missense_Mutation_p.D84Y NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 84 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CCGGCGGGGTCATGGCCAACT 0.562 NA 97 160 1.26e-39 1.95e-39 1 0 PITPNC1 26207 broad.mit.edu 37 17 65628289 65628289 + Nonsense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:65628289A>T uc002jgc.2 + 6 744 c.397A>T c.(397-399)AGA>TGA p.R133* PITPNC1_uc002jgb.2_Nonsense_Mutation_p.R133* NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 133 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) AGACGTGGAGAGAGAAGTTTG 0.428 NA 22 32 0 0 0 0 NOL11 25926 broad.mit.edu 37 17 65722658 65722658 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:65722658G>A uc002jgd.1 + 7 750 c.747G>A c.(745-747)CTG>CTA p.L249L NOL11_uc010wql.1_Silent_p.L67L|NOL11_uc010deu.1_5'UTR NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 249 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TTAAATCACTGCTGCTCAAGG 0.458 NA 33 42 0 0 0 0 ENOSF1 55556 broad.mit.edu 37 18 677394 677394 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:677394G>A uc002kku.3 - 14 1174 c.1099C>T c.(1099-1101)CAC>TAC p.H367Y ENOSF1_uc002kkt.3_Missense_Mutation_p.H285Y|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.H374Y|ENOSF1_uc002kkv.3_Missense_Mutation_p.H354Y|ENOSF1_uc002kkw.3_Missense_Mutation_p.H186Y|ENOSF1_uc002kkx.3_Missense_Mutation_p.H291Y NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 367 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 ATAATCAGGTGCTGCACCAGT 0.433 NA 6 129 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397201 5397201 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:5397201C>A uc002kmt.1 - 18 2783 c.2697G>T c.(2695-2697)GAG>GAT p.E899D EPB41L3_uc010wzh.1_Missense_Mutation_p.E730D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E677D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E568D|EPB41L3_uc002kms.1_Missense_Mutation_p.E134D|EPB41L3_uc010wze.1_Missense_Mutation_p.E204D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E196D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E171D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E291D NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 899 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTTTAGCCCCCTCCGTCAAGG 0.602 NA 175 53 2.61e-80 4.1e-80 1 0 PTPRM 5797 broad.mit.edu 37 18 7888335 7888335 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:7888335C>A uc002knn.3 + 3 931 c.428C>A c.(427-429)GCA>GAA p.A143E PTPRM_uc010dkv.2_Missense_Mutation_p.A143E NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 143 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TGGAACAGGGCAGAACTGGCC 0.403 NA 7 145 5.49e-09 6.85e-09 1 0 PTPRM 5797 broad.mit.edu 37 18 8113617 8113617 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:8113617G>T uc002knn.3 + 12 2493 c.1990G>T c.(1990-1992)GAA>TAA p.E664* PTPRM_uc010dkv.2_Nonsense_Mutation_p.E664*|PTPRM_uc010wzl.1_Nonsense_Mutation_p.E451* NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 664 Fibronectin type-III 4.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CTTTGCTGCAGAATTTCCTGC 0.428 NA 125 37 2.6e-83 4.1e-83 1 0 KIAA0802 23255 broad.mit.edu 37 18 8786039 8786039 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:8786039G>A uc002knr.2 + 7 1979 c.1837G>A c.(1837-1839)GGG>AGG p.G613R KIAA0802_uc002knq.2_Missense_Mutation_p.G613R|KIAA0802_uc010dkw.1_Missense_Mutation_p.G451R NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 964 0 CCGCGCAGACGGGGACACCGG 0.726 NA 17 3 0 0 0 0 GNAL 2774 broad.mit.edu 37 18 11868555 11868555 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:11868555C>T uc010dkz.2 + 10 939 c.693C>T c.(691-693)ATC>ATT p.I231I GNAL_uc002kqc.2_Silent_p.I308I|GNAL_uc002kqd.2_Silent_p.I231I|GNAL_uc010wzt.1_Silent_p.I24I NM_001142339 NP_001135811 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), 231 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TCACAGCTATCATTTACGTCG 0.463 NA 11 223 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14542920 14542920 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:14542920C>T uc010dln.2 - 1 680 c.226G>A c.(226-228)GGC>AGC p.G76S POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 76 skin(3) 3 TTGCTCGTGCCGCTCCCCCTG 0.572 NA 14 402 0 0 0 0 KIAA1632 57724 broad.mit.edu 37 18 43492360 43492360 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:43492360C>A uc002lbm.2 - 22 3978 c.3878G>T c.(3877-3879)CGC>CTC p.R1293L KIAA1632_uc002lbo.1_Missense_Mutation_p.R1293L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R168L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1293 autophagy 0 GTGGGCCCAGCGATAAATCAG 0.537 NA 6 75 1.07e-07 1.29e-07 1 0 DCC 1630 broad.mit.edu 37 18 50866223 50866223 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:50866223G>A uc002lfe.1 + 15 2892 c.2305G>A c.(2305-2307)GCT>ACT p.A769T DCC_uc010xdr.1_Missense_Mutation_p.A617T|DCC_uc010dpf.1_Missense_Mutation_p.A424T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 769 Extracellular (Potential).|Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GAGCCCTTACGCTGAGACAGT 0.448 NA 10 31 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63547683 63547683 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:63547683C>A uc002ljz.2 + 12 2236 c.1911C>A c.(1909-1911)CCC>CCA p.P637P CDH7_uc002lkb.2_Silent_p.P637P NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 637 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) AAAAAGAGCCCCTTATTTTTG 0.458 NA 10 18 0.000442599 0.000483749 1 0 TSHZ1 10194 broad.mit.edu 37 18 72997606 72997606 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:72997606A>T uc002lly.2 + 2 672 c.109A>T c.(109-111)AGC>TGC p.S37C NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 82 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CAGTGAGAGCAGCGACCAGCT 0.597 NA 9 10 0 0 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216937 4216937 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:4216937G>T uc010dtt.1 + 18 2056 c.1780G>T c.(1780-1782)GCC>TCC p.A594S ANKRD24_uc002lzs.2_Missense_Mutation_p.A565S|ANKRD24_uc002lzt.2_Missense_Mutation_p.A566S NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 594 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GGCCACAGGAGCCAAGGTCAC 0.562 NA 3 11 0.004672 0.00493652 1 0 MUC16 94025 broad.mit.edu 37 19 9074423 9074423 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:9074423G>T uc002mkp.2 - 3 13227 c.13023C>A c.(13021-13023)ACC>ACA p.T4341T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4343 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTTGTGTCTTGGTGACATGAG 0.483 NA 4 26 1.07e-07 1.29e-07 1 0 CDC37 11140 broad.mit.edu 37 19 10505718 10505718 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:10505718C>A uc002mof.1 - 5 821 c.705G>T c.(703-705)CGG>CGT p.R235R CDC37_uc002moe.1_Silent_p.R190R|CDC37_uc010dxf.1_Silent_p.R72R|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Silent_p.R235R NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 235 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) TGAAGAACTGCCGGAAGCAGG 0.587 NA 78 22 4.98e-18 6.98e-18 1 0 ZNF878 729747 broad.mit.edu 37 19 12154763 12154763 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:12154763C>G uc002mta.1 - 5 1594 c.1594G>C c.(1594-1596)GGG>CGG p.G532R NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 485 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AAGGCTTTCCCACACTGTTTA 0.383 NA 49 13 0 0 0 0 ZNF709 163051 broad.mit.edu 37 19 12577309 12577309 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:12577309A>C uc002mtv.3 - 3 316 c.155T>G c.(154-156)ATT>AGT p.I52S ZNF709_uc002mtw.3_Missense_Mutation_p.I20S|ZNF709_uc002mtx.3_Missense_Mutation_p.I52S NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTGATCTTCAATGTTCTTCTC 0.338 NA 7 113 0 0 0 0 WIZ 58525 broad.mit.edu 37 19 15537872 15537872 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:15537872C>A uc002nbc.2 - 4 1547 c.1524G>T c.(1522-1524)CCG>CCT p.P508P WIZ_uc002nba.3_Silent_p.P375P|WIZ_uc002nbb.3_Silent_p.P334P NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1191 nucleus zinc ion binding 0 GAAGGGCCCCCGGCAGCATCT 0.607 NA 75 22 5.02e-34 7.69e-34 1 0 PIK3R2 5296 broad.mit.edu 37 19 18271316 18271316 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:18271316C>T uc002nia.1 + 3 870 c.358C>T c.(358-360)CCA>TCA p.P120S PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 120 Rho-GAP. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 GCAGTTCTCCCCACCTGATGT 0.577 NA 29 34 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727787 20727787 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:20727787A>G uc002npa.2 - 4 1402 c.1222T>C c.(1222-1224)TAC>CAC p.Y408H NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 408 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GAAGAGGAGTACTTAAAGGCT 0.428 NA 21 43 0 0 0 0 MLL4 9757 broad.mit.edu 37 19 36212275 36212275 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:36212275G>A uc010eei.2 + 3 2026 c.2026G>A c.(2026-2028)GCC>ACC p.A676T NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 676 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCTCCTGAAGCCCCTGAGCC 0.642 NA 7 7 0 0 0 0 ZNF568 374900 broad.mit.edu 37 19 37440567 37440567 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:37440567C>A uc002ofc.2 + 7 1027 c.512C>A c.(511-513)TCA>TAA p.S171* ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Nonsense_Mutation_p.S95*|ZNF568_uc010efe.2_Nonsense_Mutation_p.S95*|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTGTTACTTCAAGACAAAGC 0.338 NA 8 93 0.000157383 0.000174701 1 0 GGN 199720 broad.mit.edu 37 19 38876144 38876144 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:38876144G>T uc002oij.1 - 3 1893 c.1758C>A c.(1756-1758)TTC>TTA p.F586L GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 586 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TAAGCACCTGGAAGGGCAGCC 0.667 NA 15 27 8.6e-14 1.16e-13 1 0 FAM98C 147965 broad.mit.edu 37 19 38899416 38899416 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:38899416G>T uc002oin.1 + 8 963 c.944G>T c.(943-945)CGG>CTG p.R315L FAM98C_uc002oio.1_Missense_Mutation_p.R233L|FAM98C_uc010xtz.1_Silent_p.P181P NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 315 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTTCCAGACCGGGGGGGCCGC 0.562 NA 24 69 9.86e-18 1.38e-17 1 0 NCCRP1 342897 broad.mit.edu 37 19 39691333 39691333 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:39691333G>C uc002okq.1 + 6 784 c.765G>C c.(763-765)GAG>GAC p.E255D NM_001001414 NP_001001414 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 255 FBA. protein catabolic process ovary(1) 1 ACCGCATGGAGCCTGGTGGGC 0.632 NA 121 196 0 0 0 0 PRX 57716 broad.mit.edu 37 19 40909731 40909731 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:40909731C>G uc002onr.2 - 5 335 c.66G>C c.(64-66)GAG>GAC p.E22D PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Missense_Mutation_p.E22D NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 22 PDZ. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGCCTCCGTCTCCACGATAA 0.692 NA 6 15 0 0 0 0 TGFB1 7040 broad.mit.edu 37 19 41854358 41854358 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:41854358T>C uc002oqh.1 - 2 1225 c.358A>G c.(358-360)ATC>GTC p.I120V CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_5'Flank NM_000660 NP_000651 P01137 TGFB1_HUMAN transforming growth factor, beta 1 precursor 120 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding 0 Hyaluronidase(DB00070) TTGTCATAGATTTCTAGCAGG 0.527 NA 45 68 0 0 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187790 42187790 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:42187790A>T uc002ori.1 - 3 634 c.632T>A c.(631-633)ATA>AAA p.I211K CEACAM7_uc010ehx.2_Missense_Mutation_p.I211K|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 211 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) ATAGGGTCCTATGTCATTCTT 0.542 NA 93 131 0 0 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224051 42224051 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:42224051C>T uc002ork.2 + 7 1816 c.1695C>T c.(1693-1695)GAC>GAT p.D565D CEACAM5_uc002orj.1_Silent_p.D564D|CEACAM5_uc002orl.2_Silent_p.D565D NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 565 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAAGAAATGACGCAAGAGCCT 0.517 NA 99 125 0 0 0 0 RELB 5971 broad.mit.edu 37 19 45540703 45540703 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:45540703C>A uc002paj.1 + 13 1521 c.1395C>A c.(1393-1395)GAC>GAA p.D465E SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank NM_006509 NP_006500 Q01201 RELB_HUMAN reticuloendotheliosis viral oncogene homolog B 465 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CAGACCCTGACTTCTTCTCTG 0.632 NA 41 193 5.45e-19 7.77e-19 1 0 SFRS16 11129 broad.mit.edu 37 19 45570821 45570821 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:45570821G>T uc002pak.2 + 14 1734 c.1636G>T c.(1636-1638)GCG>TCG p.A546S SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.A484S|SFRS16_uc002pam.2_Missense_Mutation_p.A546S NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 546 Arg-rich. mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGGCCGGCCGCGTCCCCTGC 0.438 NA 14 13 6.32e-08 7.69e-08 1 0 CCDC8 83987 broad.mit.edu 37 19 46914604 46914604 + Nonsense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:46914604C>T uc002pep.2 - 1 2316 c.1464G>A c.(1462-1464)TGG>TGA p.W488* NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 488 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCTTGCAAAACCACGAAAAGC 0.622 NA 37 57 0 0 0 0 GYS1 2997 broad.mit.edu 37 19 49488819 49488819 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:49488819C>A uc002plp.2 - 5 963 c.722G>T c.(721-723)CGA>CTA p.R241L GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.R177L|GYS1_uc010xzz.1_Missense_Mutation_p.R161L|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 241 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CATGCAGTATCGGTGGTAGAT 0.522 NA 26 56 4.88e-14 6.6e-14 1 0 PRR12 57479 broad.mit.edu 37 19 50123642 50123642 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50123642G>T uc002poo.3 + 10 5531 c.5531G>T c.(5530-5532)AGG>ATG p.R1844M NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 1023 DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTCAAAACCAGGGCGATGCGG 0.507 NA 3 16 0.004672 0.00493652 1 0 CPT1C 126129 broad.mit.edu 37 19 50204810 50204810 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50204810C>A uc002ppj.2 + 6 817 c.612C>A c.(610-612)GTC>GTA p.V204V CPT1C_uc002ppl.3_Silent_p.V170V|CPT1C_uc002ppi.2_Silent_p.V121V|CPT1C_uc002ppk.2_Silent_p.V204V|CPT1C_uc010eng.2_Silent_p.V204V|CPT1C_uc010enh.2_Silent_p.V204V|CPT1C_uc010ybc.1_Silent_p.V42V NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 204 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGACCGCGGTCCTGGCGCAGG 0.577 NA 27 31 2.13e-12 2.82e-12 1 0 AP2A1 160 broad.mit.edu 37 19 50305113 50305113 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50305113C>T uc002ppn.2 + 14 2131 c.1920C>T c.(1918-1920)ATC>ATT p.I640I AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.I640I|AP2A1_uc002ppp.1_Missense_Mutation_p.S11L NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 640 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GCAACGACATCAACGGGGGCA 0.716 NA 6 4 0 0 0 0 NUP62 23636 broad.mit.edu 37 19 50412135 50412135 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50412135C>A uc002pqx.2 - 2 1034 c.930G>T c.(928-930)GTG>GTT p.V310V IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.V310V|NUP62_uc002pqz.2_Silent_p.V310V|NUP62_uc002pra.2_Silent_p.V310V|NUP62_uc002prb.2_Silent_p.V310V|NUP62_uc002prc.2_Intron NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 310 Ala-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTGGAGCGGTCACGGCAGCTG 0.527 NA 25 54 4.23e-11 5.49e-11 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51633327 51633327 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:51633327C>A uc002pvu.2 + 7 1450 c.1383C>A c.(1381-1383)ATC>ATA p.I461I SIGLEC9_uc010yct.1_Intron NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 461 Cytoplasmic (Potential). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGATCAAGATCCACAGATGAG 0.542 NA 22 50 1.28e-07 1.54e-07 1 0 ZNF649 65251 broad.mit.edu 37 19 52394076 52394076 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52394076G>A uc002pxy.2 - 5 1581 c.1313C>T c.(1312-1314)GCT>GTT p.A438V ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_Intron NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 438 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) ATAGAAGTAAGCTTTCTCACA 0.448 NA 99 195 0 0 0 0 ZNF615 284370 broad.mit.edu 37 19 52496176 52496176 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52496176G>A uc002pye.1 - 6 2445 c.2153C>T c.(2152-2154)GCG>GTG p.A718V ZNF615_uc002pyf.1_Missense_Mutation_p.A729V|ZNF615_uc002pyg.1_Missense_Mutation_p.A610V|ZNF615_uc002pyh.1_Missense_Mutation_p.A729V|ZNF615_uc010epi.1_Missense_Mutation_p.A725V|ZNF615_uc010ydg.1_Missense_Mutation_p.A723V NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 718 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) AGACAAGTGCGCAAAAGCTTT 0.438 NA 76 103 0 0 0 0 ZNF528 84436 broad.mit.edu 37 19 52919907 52919907 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52919907G>T uc002pzh.2 + 7 2228 c.1802G>T c.(1801-1803)GGA>GTA p.G601V ZNF528_uc002pzi.2_Missense_Mutation_p.G368V NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATTCACATTGGAGAGAAACCT 0.418 NA 34 62 9.81e-26 1.47e-25 1 0 ZNF415 55786 broad.mit.edu 37 19 53612438 53612438 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:53612438A>G uc002qax.2 - 7 1353 c.1004T>C c.(1003-1005)CTT>CCT p.L335P ZNF415_uc002qat.2_Missense_Mutation_p.L299P|ZNF415_uc002qaw.2_Missense_Mutation_p.L287P|ZNF415_uc010yds.1_Missense_Mutation_p.L287P|ZNF415_uc010ydt.1_Missense_Mutation_p.L287P|ZNF415_uc002qau.2_Missense_Mutation_p.L274P|ZNF415_uc002qav.2_Missense_Mutation_p.L299P|ZNF415_uc002qba.2_Missense_Mutation_p.L57P|ZNF415_uc002qay.2_Missense_Mutation_p.L274P|ZNF415_uc002qaz.2_Missense_Mutation_p.L335P NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 335 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) ATGTAGTGCAAGGCATGAGTT 0.413 NA 11 75 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54297343 54297343 + Missense_Mutation SNP G G T rs146786265 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:54297343G>T uc002qch.3 - 10 3366 c.3146C>A c.(3145-3147)GCG>GAG p.A1049E NLRP12_uc010eqw.2_Missense_Mutation_p.A275E|NLRP12_uc002qci.3_Missense_Mutation_p.A992E|NLRP12_uc002qcj.3_Missense_Mutation_p.A1050E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 1049 LRR 8. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TACTCGAAGCGCTGCCAACCT 0.463 NA 21 54 5.35e-11 6.91e-11 1 0 CACNG7 59284 broad.mit.edu 37 19 54418659 54418659 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:54418659C>A uc002qcr.1 + 3 339 c.324C>A c.(322-324)CTC>CTA p.L108L CACNG7_uc010era.1_Silent_p.L108L NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 108 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TGGTCAGCCTCTTCCTCGTGT 0.607 NA 22 32 1.85e-09 2.33e-09 1 0 TMC4 147798 broad.mit.edu 37 19 54666867 54666867 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:54666867G>C uc010erf.2 - 9 1453 c.1321C>G c.(1321-1323)CTG>GTG p.L441V TMC4_uc002qdn.2_Missense_Mutation_p.L155V|TMC4_uc002qdo.2_Missense_Mutation_p.L435V NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 441 Helical; (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGGACCACCAGGGAGGCGAGG 0.577 NA 15 30 0 0 0 0 LAIR2 3904 broad.mit.edu 37 19 55019221 55019222 + Nonsense_Mutation DNP GG GG TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55019221_55019222GG>TT uc002qgc.2 + 3 308_309 c.186_187GG>TT c.(184-189)AGGGAG>AGTTAG p.62_63RE>S* LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Nonsense_Mutation_p.62_63RE>S*|LAIR2_uc010erl.2_Nonsense_Mutation_p.62_63RE>S* NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 62_63 Ig-like C2-type. extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GCCTGGAGAGGGAGGATAGAGC 0.53 NA 50 76 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55106360 55106360 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55106360G>T uc002qgh.1 + 4 483 c.301G>T c.(301-303)GGT>TGT p.G101C LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G101C NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 101 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CTGTTTCTACGGTAGCCACAC 0.607 NA 42 63 4.02e-15 5.51e-15 1 0 LILRB4 11006 broad.mit.edu 37 19 55177323 55177324 + Missense_Mutation DNP TC TC AA TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55177323_55177324TC>AA uc002qgp.2 + 7 1177_1178 c.815_816TC>AA c.(814-816)CTC>CAA p.L272Q LILRB4_uc002qgq.2_Missense_Mutation_p.L272Q|LILRB4_uc002qgr.2_Missense_Mutation_p.L313Q|LILRB4_uc010ert.2_Missense_Mutation_p.L313Q|LILRB4_uc010eru.2_Missense_Mutation_p.L301Q NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 272 Helical; (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) Atcctgcttctctccctcctcc 0.431 NA 8 20 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56487625 56487625 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:56487625G>T uc002qmh.2 + 8 2903 c.2832G>T c.(2830-2832)CTG>CTT p.L944L NLRP8_uc010etg.2_Silent_p.L925L NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 944 LRR 5. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGATCCTGCTGTGTGAGGCCC 0.463 NA 35 50 1.07e-22 1.58e-22 1 0 PEG3 5178 broad.mit.edu 37 19 57325220 57325220 + Missense_Mutation SNP C C G rs140891968 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:57325220C>G uc002qnu.2 - 7 4941 c.4590G>C c.(4588-4590)ATG>ATC p.M1530I ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1501I|PEG3_uc002qnv.2_Missense_Mutation_p.M1530I|PEG3_uc002qnw.2_Missense_Mutation_p.M1406I|PEG3_uc002qnx.2_Missense_Mutation_p.M1404I|PEG3_uc010etr.2_Missense_Mutation_p.M1530I NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1530 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CAAATATGATCATGCTGGCAT 0.478 NA 44 69 0 0 0 0 ZNF17 7565 broad.mit.edu 37 19 57931542 57931542 + Silent SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:57931542A>C uc002qoo.1 + 3 913 c.682A>C c.(682-684)AGG>CGG p.R228R ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.R230R NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 228 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CAAATTGTTTAGGTACAACTC 0.413 NA 5 91 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1652098 1652098 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:1652098G>T uc002qxa.2 - 17 3518 c.3454C>A c.(3454-3456)CTG>ATG p.L1152M NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1152 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCCAGGTCCAGAGCCACCGTG 0.647 NA 24 42 1.38e-21 2.01e-21 1 0 PXDN 7837 broad.mit.edu 37 2 1652817 1652817 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:1652817G>A uc002qxa.2 - 17 2799 c.2735C>T c.(2734-2736)GCA>GTA p.A912V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 912 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CACGTTGGATGCGTCTATGTA 0.672 NA 18 22 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1668820 1668820 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:1668820G>C uc002qxa.2 - 11 1382 c.1318C>G c.(1318-1320)CAG>GAG p.Q440E PXDN_uc002qxb.1_Missense_Mutation_p.Q440E|PXDN_uc002qxc.1_Missense_Mutation_p.Q257E NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 440 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACTCTGTCCTGAGGCGTCACA 0.532 NA 9 8 0 0 0 0 HPCAL1 3241 broad.mit.edu 37 2 10563138 10563138 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:10563138G>A uc002raj.2 + 4 782 c.408G>A c.(406-408)ATG>ATA p.M136I HPCAL1_uc002rak.2_Missense_Mutation_p.M136I|HPCAL1_uc002ral.2_Missense_Mutation_p.M136I|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.M136I NM_002149 NP_002140 P37235 HPCL1_HUMAN hippocalcin-like 1 136 calcium ion binding pancreas(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) CGTCTGTGATGAAGATGCCGG 0.622 NA 11 36 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15415825 15415825 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:15415825T>A uc002rcc.1 - 44 5533 c.5507A>T c.(5506-5508)AAG>ATG p.K1836M NBAS_uc010exl.1_Missense_Mutation_p.K908M|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1836 ovary(2)|liver(1)|skin(1) 4 CTGTCCATCCTTTTCAGGGAT 0.433 NA 17 54 0 0 0 0 DNMT3A 1788 broad.mit.edu 37 2 25464448 25464448 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:25464448T>A uc002rgc.2 - 17 2322 c.2065A>T c.(2065-2067)AGC>TGC p.S689C DNMT3A_uc002rgd.2_Missense_Mutation_p.S689C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.S500C NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 689 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGTGACGCTGCGGACGTCC 0.612 NA Mis|F|N|S AML 9 43 0 0 0 0 TRMT61B 55006 broad.mit.edu 37 2 29074027 29074027 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:29074027T>C uc002rmm.2 - 5 1255 c.1223A>G c.(1222-1224)AAA>AGA p.K408R TRMT61B_uc002rmn.2_Missense_Mutation_p.K408R|TRMT61B_uc010ezk.2_Intron NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 408 tRNA (adenine-N1-)-methyltransferase activity 0 AGATTCTACTTTTTGAGCTAA 0.378 NA 7 39 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32740755 32740755 + Missense_Mutation SNP G G A rs138598333 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:32740755G>A uc010ezu.2 + 55 11401 c.11267G>A c.(11266-11268)CGC>CAC p.R3756H NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3756 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACTCAACAGCGCACAGCAATT 0.433 NA 11 47 0 0 0 0 TTC27 55622 broad.mit.edu 37 2 32859031 32859031 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:32859031C>G uc002rom.2 + 3 586 c.355C>G c.(355-357)CAG>GAG p.Q119E TTC27_uc010ymx.1_Missense_Mutation_p.Q69E NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 119 protein binding central_nervous_system(1) 1 CTTACACCCTCAGGACTTTTT 0.358 NA 23 64 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33246136 33246136 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:33246136G>T uc002ros.2 + 3 726 c.726G>T c.(724-726)TGG>TGT p.W242C NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 242 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTTCCTCGTGGGGCCCTCCTG 0.562 NA 65 83 6.17e-39 9.53e-39 1 0 C2orf86 51057 broad.mit.edu 37 2 63380060 63380060 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:63380060C>A uc002sch.2 - 17 2625 c.2179G>T c.(2179-2181)GGC>TGC p.G727C C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.G568C|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.G535C NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 727 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 TGTTCTCTGCCGTCTTCTCTC 0.274 NA 10 29 1.05e-09 1.33e-09 1 0 SPRED2 200734 broad.mit.edu 37 2 65540979 65540979 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:65540979C>G uc002sdr.3 - 6 1448 c.913G>C c.(913-915)GAG>CAG p.E305Q SPRED2_uc010fcw.2_Missense_Mutation_p.E302Q NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 305 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 CGCGAGCGCTCTCCGTCCTCC 0.682 NA 20 94 0 0 0 0 SMYD5 10322 broad.mit.edu 37 2 73446061 73446061 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:73446061G>T uc002siw.2 + 2 198 c.169G>T c.(169-171)GCA>TCA p.A57S SMYD5_uc010yre.1_5'UTR NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 57 metal ion binding 0 CCTGGTGGCTGCACAGTTTCT 0.557 NA 17 44 2.38e-13 3.17e-13 1 0 LOXL3 84695 broad.mit.edu 37 2 74763195 74763195 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:74763195T>A uc002smp.1 - 7 1248 c.1176A>T c.(1174-1176)ACA>ACT p.T392T LOXL3_uc002smo.1_Silent_p.T31T|LOXL3_uc010ffm.1_Silent_p.T392T|LOXL3_uc002smq.1_Silent_p.T247T|LOXL3_uc010ffn.1_Silent_p.T247T NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 392 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 AATCCTCAGCTGTGATGTTCT 0.567 NA 39 46 0 0 0 0 REG1A 5967 broad.mit.edu 37 2 79349979 79349979 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:79349979C>T uc002snz.2 + 5 437 c.334C>T c.(334-336)CAC>TAC p.H112Y REG1A_uc010ysd.1_Missense_Mutation_p.H112Y NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 112 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CCGCCGCTGGCACTGGAGCAG 0.557 NA 34 120 0 0 0 0 PROM2 150696 broad.mit.edu 37 2 95952298 95952298 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:95952298C>A uc002suh.1 + 17 2152 c.2019C>A c.(2017-2019)GTC>GTA p.V673V PROM2_uc002sui.2_Silent_p.V673V|PROM2_uc002suj.2_Silent_p.V327V|PROM2_uc002suk.2_Silent_p.V673V|PROM2_uc002sul.2_Silent_p.V199V|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 673 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 AGGAGAAGGTCGTCCCCCAGC 0.612 NA 34 44 2.87e-16 3.98e-16 1 0 AFF3 3899 broad.mit.edu 37 2 100623731 100623731 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:100623731G>A uc002tag.2 - 5 602 c.366C>T c.(364-366)CCC>CCT p.P122P AFF3_uc002taf.2_Silent_p.P147P|AFF3_uc010fiq.1_Silent_p.P122P|AFF3_uc010yvr.1_Silent_p.P276P|AFF3_uc002tah.1_Silent_p.P147P|AFF3_uc010fir.1_Silent_p.P199P|AFF3_uc002tai.2_Silent_p.P44P NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 122 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 AGATAGACGAGGGCTGGTTCT 0.537 NA 41 58 0 0 0 0 CCDC138 165055 broad.mit.edu 37 2 109408221 109408221 + Silent SNP G G A rs36034137 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:109408221G>A uc002ten.1 + 4 417 c.357G>A c.(355-357)TCG>TCA p.S119S CCDC138_uc002teo.1_Silent_p.S119S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 119 0 TTAGTACCTCGAAAATAACCA 0.284 NA 18 101 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116598360 116598360 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:116598360C>G uc002tla.1 + 25 2674 c.2217C>G c.(2215-2217)ATC>ATG p.I739M DPP10_uc002tlb.1_Missense_Mutation_p.I689M|DPP10_uc002tlc.1_Missense_Mutation_p.I735M|DPP10_uc002tle.2_Missense_Mutation_p.I743M|DPP10_uc002tlf.1_Missense_Mutation_p.I732M NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 739 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CAGAATTAATCAAGCACCTAA 0.343 NA 37 52 0 0 0 0 GLI2 2736 broad.mit.edu 37 2 121555035 121555035 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:121555035G>A uc010flp.2 + 1 169 c.139G>A c.(139-141)GCC>ACC p.A47T GLI2_uc010yyu.1_Missense_Mutation_p.A47T|GLI2_uc002tmp.1_Missense_Mutation_p.A47T|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.3_5'UTR|GLI2_uc002tmu.3_5'UTR|GLI2_uc002tmv.1_Missense_Mutation_p.A47T|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.A47T NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 47 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) AGCGGTAGCTGCCCAAGGAGG 0.572 NA 29 66 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135744037 135744037 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:135744037G>A uc002tue.1 - 7 2436 c.2405C>T c.(2404-2406)CCT>CTT p.P802L YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P689L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P530L|YSK4_uc002tui.3_Missense_Mutation_p.P819L NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 802 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TGAGACAGGAGGGAATTCATT 0.388 NA 54 56 0 0 0 0 R3HDM1 23518 broad.mit.edu 37 2 136467633 136467633 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:136467633A>G uc002tuo.2 + 22 2833 c.2463A>G c.(2461-2463)GGA>GGG p.G821G R3HDM1_uc010fni.2_Silent_p.G820G|R3HDM1_uc002tup.2_Silent_p.G766G|R3HDM1_uc010zbh.1_Silent_p.G569G NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 821 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) TTTCAGCTGGACCACCACCGC 0.443 NA OREG0014997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 73 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136566979 136566979 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:136566979A>T uc002tuu.1 - 8 2949 c.2938T>A c.(2938-2940)TGG>AGG p.W980R NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 980 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCCGAGACCAGGAGATAGAG 0.498 NA 40 50 0 0 0 0 UPP2 151531 broad.mit.edu 37 2 158962720 158962720 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:158962720G>C uc002tzp.2 + 2 366 c.172G>C c.(172-174)GAT>CAT p.D58H UPP2_uc002tzo.2_Missense_Mutation_p.D115H NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 58 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 AATGTTTGGAGATGTAAAGGT 0.328 NA 15 27 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160257124 160257124 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:160257124G>A uc002uao.2 - 17 3236 c.2884C>T c.(2884-2886)CAG>TAG p.Q962* BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q926*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.Q792* NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 962 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 AGAATTTGCTGAGCTCGAAGT 0.259 NA 11 26 0 0 0 0 FIGN 55137 broad.mit.edu 37 2 164466811 164466811 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:164466811C>A uc002uck.1 - 3 1842 c.1531G>T c.(1531-1533)GCG>TCG p.A511S NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 511 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CCACTGAACGCGTCTGACCTC 0.532 NA 54 60 9.11e-22 1.33e-21 1 0 SCN3A 6328 broad.mit.edu 37 2 165956828 165956828 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:165956828C>A uc002ucx.2 - 22 4442 c.3950G>T c.(3949-3951)CGG>CTG p.R1317L SCN3A_uc002ucy.2_Missense_Mutation_p.R1268L|SCN3A_uc002ucz.2_Missense_Mutation_p.R1268L|SCN3A_uc002uda.1_Missense_Mutation_p.R1137L|SCN3A_uc002udb.1_Missense_Mutation_p.R1137L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1317 Helical; Voltage-sensor; Name=S4 of repeat III; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GCCTTCAAACCGGGATAAGGC 0.403 NA 39 56 6.34e-27 9.58e-27 1 0 SCRN3 79634 broad.mit.edu 37 2 175287708 175287708 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:175287708T>A uc002uiq.2 + 6 938 c.850T>A c.(850-852)TCT>ACT p.S284T SCRN3_uc010zen.1_Missense_Mutation_p.S277T|SCRN3_uc010zeo.1_Missense_Mutation_p.S82T|SCRN3_uc002uis.2_Missense_Mutation_p.S26T NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 284 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) AAGCATGGTTTCTATTTTACC 0.408 NA 42 46 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179401131 179401131 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179401131C>G uc010zfg.1 - 306 92863 c.92639G>C c.(92638-92640)CGA>CCA p.R30880P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24575P|TTN_uc010zfi.1_Missense_Mutation_p.R24508P|TTN_uc010zfj.1_Missense_Mutation_p.R24383P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31807 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACAGTTTCTCGAATTTCTTC 0.388 NA 23 61 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179412806 179412806 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179412806C>T uc010zfg.1 - 288 86067 c.85843G>A c.(85843-85845)GAA>AAA p.E28615K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22310K|TTN_uc010zfi.1_Missense_Mutation_p.E22243K|TTN_uc010zfj.1_Missense_Mutation_p.E22118K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29542 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACGGAATTCATATTCAGTT 0.453 NA 93 88 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179439363 179439363 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179439363G>T uc010zfg.1 - 275 64016 c.63792C>A c.(63790-63792)ACC>ACA p.T21264T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14959T|TTN_uc010zfi.1_Silent_p.T14892T|TTN_uc010zfj.1_Silent_p.T14767T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22191 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACCTGAGGGGTACCAGGAG 0.448 NA 18 87 3.52e-12 4.65e-12 1 0 TTN 7273 broad.mit.edu 37 2 179443986 179443986 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179443986G>C uc010zfg.1 - 269 60291 c.60067C>G c.(60067-60069)CTA>GTA p.L20023V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13718V|TTN_uc010zfi.1_Missense_Mutation_p.L13651V|TTN_uc010zfj.1_Missense_Mutation_p.L13526V|uc002umv.1_Missense_Mutation_p.R71T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20950 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGTTGCTAGAGGATCTTCC 0.438 NA 55 65 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179598401 179598401 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179598401T>C uc010zfg.1 - 50 12207 c.11983A>G c.(11983-11985)ACG>GCG p.T3995A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T656A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4922 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E3995*(1) ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCAGGCACGTGTATTTGCCT 0.383 NA 48 119 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179610817 179610817 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179610817G>T uc002unb.2 - 46 16534 c.16310C>A c.(16309-16311)ACT>AAT p.T5437N TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 8944 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTTTAAGAGTGTGACTTCC 0.418 NA 96 101 5.72e-57 8.95e-57 1 0 TTN 7273 broad.mit.edu 37 2 179613353 179613353 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179613353C>T uc002unb.2 - 46 13998 c.13774G>A c.(13774-13776)GAA>AAA p.E4592K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTATCTAATTCTTGGAATTTC 0.318 NA 11 234 0 0 0 0 SSFA2 6744 broad.mit.edu 37 2 182779977 182779977 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:182779977C>T uc002uoi.2 + 11 1932 c.1610C>T c.(1609-1611)GCT>GTT p.A537V SSFA2_uc002uoh.2_Missense_Mutation_p.A537V|SSFA2_uc002uoj.2_Missense_Mutation_p.A537V|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.A384V|SSFA2_uc002uol.2_Missense_Mutation_p.A384V|SSFA2_uc002uom.2_Missense_Mutation_p.A5V NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 537 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GGGAGTAGTGCTGATAGTTGT 0.423 NA 66 82 0 0 0 0 COL5A2 1290 broad.mit.edu 37 2 189918902 189918902 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:189918902C>A uc002uqk.2 - 36 2703 c.2428G>T c.(2428-2430)GGT>TGT p.G810C COL5A2_uc010frx.2_Missense_Mutation_p.G386C NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 810 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGTAGGACCTGCCGGACCT 0.393 NA 55 71 3.64e-18 5.12e-18 1 0 DNAH7 56171 broad.mit.edu 37 2 196825030 196825030 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:196825030T>C uc002utj.3 - 18 2946 c.2845A>G c.(2845-2847)ACT>GCT p.T949A NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 949 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CCTCGCATAGTTTGTGTTTTA 0.323 NA 11 157 0 0 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677074 219677074 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:219677074G>T uc002viz.3 + 3 1010 c.576G>T c.(574-576)CTG>CTT p.L192L NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 192 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TGGACCAGCTGCGGGCAGAGA 0.557 NA 11 173 1.09e-07 1.31e-07 1 0 SP140L 93349 broad.mit.edu 37 2 231248247 231248247 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:231248247G>T uc010fxm.1 + 8 751 c.660G>T c.(658-660)TGG>TGT p.W220C SP140L_uc010fxo.1_Missense_Mutation_p.W27C NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 220 nucleus DNA binding|metal ion binding central_nervous_system(1) 1 GGCATGGCTGGAGCAGAATGG 0.358 NA 8 15 2.18e-05 2.47e-05 1 0 ECEL1 9427 broad.mit.edu 37 2 233349955 233349956 + Missense_Mutation DNP AG AG TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:233349955_233349956AG>TT uc002vsv.2 - 3 1013_1014 c.808_809CT>AA c.(808-810)CTG>AAG p.L270K ECEL1_uc010fya.1_Missense_Mutation_p.L270K|ECEL1_uc010fyb.1_5'UTR NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 270 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCTCTCTGGCAGGGTGAGCCCA 0.634 NA 15 5 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241661290 241661290 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:241661290C>T uc002vzy.2 - 42 4520 c.4374G>A c.(4372-4374)CTG>CTA p.L1458L KIF1A_uc010fzk.2_Silent_p.L1559L|KIF1A_uc002vzw.2_Silent_p.L119L|KIF1A_uc002vzx.2_Silent_p.L185L NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1458 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) TGTGCGTGAGCAGGCGCAAGC 0.657 NA 6 2 0 0 0 0 RSPO4 343637 broad.mit.edu 37 20 947818 947818 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:947818C>T uc002wej.2 - 3 505 c.408G>A c.(406-408)CAG>CAA p.Q136Q RSPO4_uc002wek.2_Silent_p.Q136Q NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 136 Wnt receptor signaling pathway extracellular region heparin binding 0 CCCACTCACCCTGGCACTCCC 0.627 NA 6 29 0 0 0 0 PSMF1 9491 broad.mit.edu 37 20 1144966 1144966 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:1144966C>T uc002wel.3 + 7 778 c.610C>T c.(610-612)CGG>TGG p.R204W PSMF1_uc010zpo.1_Missense_Mutation_p.R116W|PSMF1_uc002wem.3_Missense_Mutation_p.R204W|PSMF1_uc010zpp.1_Missense_Mutation_p.R142W|PSMF1_uc002wen.3_Missense_Mutation_p.R204W|PSMF1_uc002wep.3_Missense_Mutation_p.R155W NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 204 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 CCTCAGGCCTCGGAGAGGTGG 0.552 NA 209 236 0 0 0 0 BMP2 650 broad.mit.edu 37 20 6759467 6759467 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:6759467G>A uc002wmu.1 + 3 1707 c.922G>A c.(922-924)GTG>ATG p.V308M NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 308 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) CTTCAGTGACGTGGGGTGGAA 0.507 NA 26 87 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8609052 8609052 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:8609052G>T uc002wnb.2 + 4 361 c.358G>T c.(358-360)GTG>TTG p.V120L PLCB1_uc010zrb.1_Missense_Mutation_p.V19L|PLCB1_uc010gbv.1_Missense_Mutation_p.V120L|PLCB1_uc002wmz.1_Missense_Mutation_p.V120L|PLCB1_uc002wna.2_Missense_Mutation_p.V120L|PLCB1_uc002wnc.1_Missense_Mutation_p.V19L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 120 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TTTGAATCTCGTGGCTTTCCA 0.478 NA 30 67 8.17e-17 1.14e-16 1 0 SNRPB2 6629 broad.mit.edu 37 20 16719498 16719498 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:16719498G>A uc002wph.1 + 5 596 c.380G>A c.(379-381)GGA>GAA p.G127E SNRPB2_uc002wpi.1_Missense_Mutation_p.G127E NM_003092 NP_003083 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B'' 127 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(1) 1 TTTGCTTAGGGAACTCCAAAT 0.299 NA 7 22 0 0 0 0 PAX1 5075 broad.mit.edu 37 20 21687098 21687098 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:21687098C>T uc002wsj.2 + 2 363 c.309C>T c.(307-309)AAC>AAT p.N103N PAX1_uc010zsl.1_Silent_p.N103N|PAX1_uc010zsm.1_Silent_p.N79N NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 103 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GCGAGGTGAACCAGCTGGGCG 0.662 NA 23 76 0 0 0 0 MYLK2 85366 broad.mit.edu 37 20 30408307 30408307 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:30408307C>T uc002wwq.2 + 3 533 c.431C>T c.(430-432)CCT>CTT p.P144L NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 144 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGGGGCTCACCTGCCTTTCTG 0.637 NA 39 40 0 0 0 0 ZNF341 84905 broad.mit.edu 37 20 32378871 32378871 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:32378871C>T uc002wzy.2 + 15 2133 c.2113C>T c.(2113-2115)CAC>TAC p.H705Y ZNF341_uc002wzx.2_Missense_Mutation_p.H698Y|ZNF341_uc010geq.2_Missense_Mutation_p.H615Y|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Missense_Mutation_p.H132Y NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 705 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCAGCGCGCCCACACGGGCAA 0.612 NA 17 44 0 0 0 0 NCOA6 23054 broad.mit.edu 37 20 33337564 33337564 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:33337564C>A uc002xav.2 - 10 5005 c.2434G>T c.(2434-2436)GTC>TTC p.V812F NCOA6_uc002xaw.2_Missense_Mutation_p.V812F NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 812 TBP/GTF2A-binding region.|NCOA1-binding region.|NCOA6IP-binding region.|CREBBP-binding region.|Gln-rich. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GATAAACTGACATCGTTATTT 0.542 NA 48 71 1.57e-16 2.18e-16 1 0 NCOA6 23054 broad.mit.edu 37 20 33345322 33345322 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:33345322C>A uc002xav.2 - 8 3800 c.1229G>T c.(1228-1230)GGG>GTG p.G410V NCOA6_uc002xaw.2_Missense_Mutation_p.G410V|NCOA6_uc010gew.1_Missense_Mutation_p.G367V NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 410 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CCTAGAGGGCCCTCCCTGCAA 0.597 NA 23 51 2.28e-05 2.58e-05 1 0 CDH22 64405 broad.mit.edu 37 20 44839176 44839176 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:44839176G>T uc002xrm.2 - 6 1457 c.1056C>A c.(1054-1056)CCC>CCA p.P352P CDH22_uc010ghk.1_Silent_p.P352P|CDH22_uc002xrn.1_Silent_p.P103P NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 352 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CGGTGTGCACGGGCTGGGATT 0.677 NA 16 11 2.94e-08 3.61e-08 1 0 FAM65C 140876 broad.mit.edu 37 20 49221286 49221286 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:49221286C>G uc002xvm.2 - 12 1288 c.970G>C c.(970-972)GTG>CTG p.V324L FAM65C_uc010zyt.1_Missense_Mutation_p.V328L|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V324L NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 324 ovary(2) 2 CTGGGTGACACCAGGAAGCTC 0.602 NA 10 13 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60887107 60887107 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:60887107C>T uc002ycq.2 - 70 9572 c.9505_splice c.e70-1 p.D3169_splice NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAGCCCATCCTGGGGACGGC 0.672 NA 21 23 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10959762 10959762 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:10959762G>T uc002yip.1 - 8 580 c.212C>A c.(211-213)GCT>GAT p.A71D TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.A53D|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 71 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AACATTTTCAGCATCTTCAAC 0.363 NA 9 192 2.74e-10 3.5e-10 1 0 DSCAM 1826 broad.mit.edu 37 21 41539196 41539196 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:41539196C>A uc002yyq.1 - 16 3419 c.2967G>T c.(2965-2967)CAG>CAT p.Q989H DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 989 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTGAACTTCCTGAGGTGGAC 0.532 NA 18 42 7.45e-12 9.78e-12 1 0 COL6A2 1292 broad.mit.edu 37 21 47545908 47545908 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:47545908G>T uc002zia.1 + 26 2261 c.2179G>T c.(2179-2181)GCG>TCG p.A727S COL6A2_uc002zhy.1_Missense_Mutation_p.A727S|COL6A2_uc002zhz.1_Missense_Mutation_p.A727S|COL6A2_uc002zib.1_Missense_Mutation_p.A133S|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 727 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACGTGTGTTTGCGGTGGTCAT 0.657 NA 12 31 3.04e-14 4.12e-14 1 0 ZNF74 7625 broad.mit.edu 37 22 20760750 20760750 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:20760750A>C uc010gsm.2 + 6 1639 c.1427A>C c.(1426-1428)GAG>GCG p.E476A ZNF74_uc002zsg.2_Missense_Mutation_p.E405A|ZNF74_uc002zsh.2_Missense_Mutation_p.E476A|ZNF74_uc002zsi.2_Missense_Mutation_p.E405A|ZNF74_uc010gsn.2_Missense_Mutation_p.E405A NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 476 C2H2-type 9. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AAGTGCAACGAGTGCGGCAAA 0.642 NA 25 53 0 0 0 0 BPIL2 254240 broad.mit.edu 37 22 32828502 32828502 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:32828502G>T uc003amn.2 - 10 1007 c.1007C>A c.(1006-1008)CCC>CAC p.P336H BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.P60H NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 336 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 CACCATGAAGGGCTGGGACAA 0.488 NA 33 66 4.42e-11 5.73e-11 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121264 38121264 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:38121264A>T uc003atr.2 + 7 2972 c.2701A>T c.(2701-2703)AAC>TAC p.N901Y TRIOBP_uc003atu.2_Missense_Mutation_p.N729Y|TRIOBP_uc003atq.1_Missense_Mutation_p.N901Y|TRIOBP_uc003ats.1_Missense_Mutation_p.N729Y NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 901 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCATCGTACTAACAAAGACAT 0.547 NA 99 156 0 0 0 0 GCAT 23464 broad.mit.edu 37 22 38212669 38212669 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:38212669G>T uc003atz.2 + 9 1224 c.1204G>T c.(1204-1206)GAC>TAC p.D402Y GCAT_uc003aua.1_Missense_Mutation_p.D428Y NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 402 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGAAGACATTGACCGCTGCGT 0.627 NA 43 60 7.53e-24 1.12e-23 1 0 NPTXR 23467 broad.mit.edu 37 22 39219124 39219124 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:39219124G>C uc003awk.2 - 4 1396 c.1242C>G c.(1240-1242)ATC>ATG p.I414M NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 414 Pentaxin.|Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) CATGAGGCTTGATGGGGTGCC 0.502 NA 28 67 0 0 0 0 ENTHD1 150350 broad.mit.edu 37 22 40140270 40140270 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:40140270C>T uc003ayg.2 - 7 1489 c.1238G>A c.(1237-1239)GGA>GAA p.G413E NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 413 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GGAAGATGCTCCCTCAGAAGC 0.363 NA 8 41 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657867 46657867 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:46657867G>C uc003bhh.2 - 1 1353 c.1353C>G c.(1351-1353)CTC>CTG p.L451L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 451 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TTGGTCCTTGGAGCACGTGGA 0.408 NA 43 40 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658330 46658330 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:46658330G>A uc003bhh.2 - 1 890 c.890C>T c.(889-891)TCG>TTG p.S297L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 297 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCACTGTAACGAATTATTGGG 0.572 NA 125 132 0 0 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50665439 50665439 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:50665439C>A uc003bkb.1 - 6 1992 c.1480G>T c.(1480-1482)GCG>TCG p.A494S TUBGCP6_uc010har.1_Missense_Mutation_p.A494S|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 494 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTGGGAAACGCGGCCCTGGGG 0.687 NA 4 10 0.000602214 0.000655325 1 0 MAPK8IP2 23542 broad.mit.edu 37 22 51041671 51041671 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:51041671G>T uc003bmx.2 + 3 308 c.191G>T c.(190-192)CGC>CTC p.R64L MAPK8IP2_uc003bmy.2_Missense_Mutation_p.R37L|MAPK8IP2_uc011asc.1_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting 64 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding large_intestine(2)|central_nervous_system(1) 3 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCCTGGGGCGCTCGGAGCAG 0.527 NA 16 14 2.32e-09 2.92e-09 1 0 CNTN4 152330 broad.mit.edu 37 3 3081938 3081938 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:3081938T>G uc003bpc.2 + 19 2602 c.2381T>G c.(2380-2382)GTG>GGG p.V794G CNTN4_uc003bpb.1_Missense_Mutation_p.V465G|CNTN4_uc003bpe.2_Missense_Mutation_p.V466G|CNTN4_uc003bpf.2_Missense_Mutation_p.V465G|CNTN4_uc003bpg.2_Missense_Mutation_p.V50G NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 794 Fibronectin type-III 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACCACGGTGGTGTATTCTGCA 0.428 NA 25 17 0 0 0 0 CHCHD4 131474 broad.mit.edu 37 3 14154541 14154541 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:14154541C>T uc003byj.3 - 3 470 c.275G>A c.(274-276)CGG>CAG p.R92Q CHCHD4_uc003byi.3_Missense_Mutation_p.R105Q NM_001098502 NP_001091972 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain 92 CHCH. protein transport|transmembrane transport mitochondrial intermembrane space 0 CTGCATGGCCCGGAACTGGTC 0.388 NA 3 45 0 0 0 0 XPC 7508 broad.mit.edu 37 3 14220052 14220052 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:14220052G>C uc011ave.1 - 1 121 c.17C>G c.(16-18)GCG>GGG p.A6G XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Missense_Mutation_p.A6G|LSM3_uc003byn.2_5'Flank NM_004628 NP_004619 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 6 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding ovary(2)|breast(1) 3 CCCGCCGGCCGCGCGTTTCCG 0.701 NA Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 5 37 0 0 0 0 C3orf20 84077 broad.mit.edu 37 3 14745912 14745912 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:14745912C>T uc003byy.2 + 7 1351 c.947C>T c.(946-948)GCA>GTA p.A316V C3orf20_uc003byz.2_Missense_Mutation_p.A194V|C3orf20_uc003bza.2_Missense_Mutation_p.A194V|C3orf20_uc003byx.1_Intron NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 316 cytoplasm|integral to membrane ovary(3)|skin(1) 4 AACTACAAGGCAAAGATGCCC 0.512 NA 46 26 0 0 0 0 GALNTL2 117248 broad.mit.edu 37 3 16254215 16254215 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:16254215G>T uc003car.3 + 6 1812 c.1337G>T c.(1336-1338)GGG>GTG p.G446V GALNTL2_uc003caq.3_Missense_Mutation_p.G179V NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 446 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 ACCTGGCTGGGGTCATTCAAA 0.557 NA 41 25 5.45e-19 7.77e-19 1 0 ARPP21 10777 broad.mit.edu 37 3 35778754 35778754 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:35778754G>A uc003cgb.2 + 16 1808 c.1544G>A c.(1543-1545)GGG>GAG p.G515E ARPP21_uc003cga.2_Missense_Mutation_p.G461E|ARPP21_uc011axy.1_Missense_Mutation_p.G481E|ARPP21_uc003cgf.2_Missense_Mutation_p.G316E|ARPP21_uc003cgg.2_Missense_Mutation_p.G3E NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 515 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GCCATGGTGGGGCAGTCCCAA 0.627 NA 30 27 0 0 0 0 SCN11A 11280 broad.mit.edu 37 3 38889201 38889201 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:38889201G>T uc011ays.1 - 26 4559 c.4360C>A c.(4360-4362)CAC>AAC p.H1454N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1454 IV. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAGGAATGTGCTCCTGATTT 0.502 NA 19 10 4.31e-22 6.32e-22 1 0 SCN11A 11280 broad.mit.edu 37 3 38951680 38951680 + Nonsense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:38951680A>T uc011ays.1 - 8 1177 c.978T>A c.(976-978)TAT>TAA p.Y326* NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 326 I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCTTACATTCATATTGTATGG 0.383 NA 44 17 0 0 0 0 CDCP1 64866 broad.mit.edu 37 3 45152275 45152275 + Silent SNP G G T rs151241354 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:45152275G>T uc003com.2 - 4 849 c.714C>A c.(712-714)GCC>GCA p.A238A CDCP1_uc003con.2_Silent_p.A238A NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 238 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CTGGGTAGTTGGCAGACATCA 0.542 NA 10 139 1.59e-06 1.87e-06 1 0 DHX30 22907 broad.mit.edu 37 3 47890739 47890739 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:47890739C>T uc003cru.2 + 19 3413 c.2987C>T c.(2986-2988)TCG>TTG p.S996L DHX30_uc003crt.2_Missense_Mutation_p.S957L|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 996 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GGGAAGCCCTCGGACTGCACC 0.597 NA 5 54 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49690362 49690362 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:49690362G>C uc003cxe.3 + 5 3487 c.3373G>C c.(3373-3375)GAG>CAG p.E1125Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1125 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCCTGCTCTGAGTACTCACC 0.612 NA 36 27 0 0 0 0 PARP3 10039 broad.mit.edu 37 3 51982442 51982442 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:51982442C>T uc003dby.2 + 11 1919 c.1548C>T c.(1546-1548)CTC>CTT p.L516L PARP3_uc003dbz.2_Silent_p.L523L NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 516 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCGAGTACCTCATCTACCAGG 0.642 NA 38 15 0 0 0 0 SFMBT1 51460 broad.mit.edu 37 3 52945182 52945182 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:52945182C>A uc003dgf.2 - 18 2312 c.1743G>T c.(1741-1743)AAG>AAT p.K581N SFMBT1_uc010hmr.2_Missense_Mutation_p.K528N|SFMBT1_uc003dgg.2_Missense_Mutation_p.K581N|SFMBT1_uc003dgh.2_Missense_Mutation_p.K581N NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 581 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CCCGATAACTCTTTCCTTTAT 0.388 NA 41 22 1.62e-14 2.21e-14 1 0 COL8A1 1295 broad.mit.edu 37 3 99513341 99513341 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:99513341C>A uc003dtg.1 + 5 841 c.596C>A c.(595-597)CCA>CAA p.P199Q COL8A1_uc003dth.1_Missense_Mutation_p.P199Q|COL8A1_uc003dti.1_Missense_Mutation_p.P200Q NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 199 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 CAAGGACCTCCAGGGCCTCAT 0.592 NA 23 27 2.28e-05 2.58e-05 1 0 ABI3BP 25890 broad.mit.edu 37 3 100621495 100621495 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:100621495C>A uc003dun.2 - 3 401 c.316G>T c.(316-318)GCT>TCT p.A106S ABI3BP_uc003duo.2_Missense_Mutation_p.A99S|ABI3BP_uc003dup.3_Missense_Mutation_p.A99S NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 106 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GGAGGTGGAGCAGGTCGCACA 0.398 NA 17 27 2.71e-06 3.16e-06 1 0 WDR52 55779 broad.mit.edu 37 3 113099870 113099870 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:113099870T>C uc003eae.1 - 16 1974 c.1928A>G c.(1927-1929)TAT>TGT p.Y643C NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 643 central_nervous_system(1) 1 TTCAAGAATATAGCCATTTTC 0.299 NA 30 47 0 0 0 0 HCLS1 3059 broad.mit.edu 37 3 121352001 121352001 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:121352001C>A uc003eeh.3 - 11 1046 c.921G>T c.(919-921)GGG>GGT p.G307G HCLS1_uc011bjj.1_Silent_p.G270G|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 307 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) ATGGAGGAGTCCCAACTGGAG 0.468 NA 8 5 0.00307968 0.00328896 1 0 PARP9 83666 broad.mit.edu 37 3 122277281 122277281 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:122277281C>A uc010hri.2 - 3 194 c.49G>T c.(49-51)GGT>TGT p.G17C PARP9_uc003eff.3_Nonsense_Mutation_p.E17*|PARP9_uc011bjs.1_Nonsense_Mutation_p.E17*|PARP9_uc003efg.2_Missense_Mutation_p.D17Y|PARP9_uc003efi.2_Nonsense_Mutation_p.E17*|PARP9_uc003efh.2_Missense_Mutation_p.G17C|PARP9_uc003efj.2_Nonsense_Mutation_p.E17* NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 17 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) GTAATCCTACCTGATTTTTCA 0.423 NA 40 42 1.07e-22 1.58e-22 1 0 KIAA1257 57501 broad.mit.edu 37 3 128695838 128695838 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:128695838C>T uc003elj.3 - 6 1076 c.880G>A c.(880-882)GAT>AAT p.D294N KIAA1257_uc003elg.1_Missense_Mutation_p.D294N|KIAA1257_uc003eli.3_Missense_Mutation_p.D182N NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 294 0 GTGGAAGAATCGTCCATTTTG 0.443 NA 18 21 0 0 0 0 DZIP1L 199221 broad.mit.edu 37 3 137822454 137822454 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:137822454G>A uc003erq.2 - 2 723 c.360C>T c.(358-360)GGC>GGT p.G120G DZIP1L_uc003err.1_Silent_p.G120G NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 120 intracellular zinc ion binding ovary(1)|pancreas(1) 2 GCTGCTGCTGGCCCAGGCTGG 0.662 NA 10 14 0 0 0 0 A4GNT 51146 broad.mit.edu 37 3 137850025 137850025 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:137850025A>T uc003ers.2 - 2 276 c.74T>A c.(73-75)CTG>CAG p.L25Q NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 25 Helical; Signal-anchor for type II membrane protein; (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 GCTGGACTTCAGGGTGAACTG 0.567 NA 14 21 0 0 0 0 PLSCR4 57088 broad.mit.edu 37 3 145917674 145917674 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:145917674G>A uc010huy.2 - 6 879 c.550C>T c.(550-552)CGA>TGA p.R184* PLSCR4_uc010huz.2_Nonsense_Mutation_p.R184*|PLSCR4_uc003evt.3_Nonsense_Mutation_p.R184*|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 184 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 ATGATTTCTCGGCCCATACAA 0.502 NA 15 15 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151082807 151082807 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:151082807G>C uc003eyp.2 + 20 2931 c.2893G>C c.(2893-2895)GTG>CTG p.V965L MED12L_uc011bnz.1_Missense_Mutation_p.V825L|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.V128L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 965 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATATAATAACGTGATGCCTGC 0.363 NA 68 97 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155218533 155218533 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:155218533G>T uc011bok.1 - 13 1996 c.1719C>A c.(1717-1719)GAC>GAA p.D573E PLCH1_uc011boj.1_Missense_Mutation_p.D573E|PLCH1_uc011bol.1_Missense_Mutation_p.D555E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 573 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCTGCTGTGTGTCTTCCTCAT 0.428 NA 14 129 1.57e-10 2.02e-10 1 0 GMPS 8833 broad.mit.edu 37 3 155632262 155632262 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:155632262A>G uc003faq.2 + 8 1276 c.941A>G c.(940-942)GAT>GGT p.D314G GMPS_uc011bom.1_Missense_Mutation_p.D215G NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 314 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAATATCAGATGAAGATAGA 0.358 NA T MLL AML 8 84 0 0 0 0 VEPH1 79674 broad.mit.edu 37 3 157099093 157099093 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:157099093G>T uc003fbj.1 - 7 1296 c.979C>A c.(979-981)CTC>ATC p.L327I VEPH1_uc003fbk.1_Missense_Mutation_p.L327I|VEPH1_uc010hvu.1_Missense_Mutation_p.L327I NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 327 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCCAGCAGGAGAATATGGTGA 0.498 NA 42 48 3.43e-23 5.08e-23 1 0 SI 6476 broad.mit.edu 37 3 164737463 164737463 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:164737463A>T uc003fei.2 - 28 3412 c.3350T>A c.(3349-3351)GTG>GAG p.V1117E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1117 Sucrase.|Lumenal. 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) TGTATGTTCCACTTCCCCAAA 0.438 NA HNSCC(35;0.089) 19 76 0 0 0 0 SI 6476 broad.mit.edu 37 3 164750444 164750444 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:164750444G>T uc003fei.2 - 24 2664 c.2602C>A c.(2602-2604)CAG>AAG p.Q868K NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 868 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) GTTCCTTCCTGATATGATGAA 0.343 NA HNSCC(35;0.089) 16 21 2.35e-11 3.07e-11 1 0 HTR3C 170572 broad.mit.edu 37 3 183776222 183776222 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:183776222C>A uc003fmk.2 + 6 601 c.567C>A c.(565-567)AGC>AGA p.S189R NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 189 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGGACAGCATGCTGCTGG 0.567 NA 6 90 0.00198382 0.00212623 1 0 HTR3C 170572 broad.mit.edu 37 3 183776244 183776244 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:183776244G>A uc003fmk.2 + 6 623 c.589G>A c.(589-591)GAG>AAG p.E197K NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 197 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CATGGACAAGGAGGTGTGGGA 0.582 NA 9 108 0 0 0 0 MASP1 5648 broad.mit.edu 37 3 186944202 186944202 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:186944202G>T uc003frh.1 - 12 1880 c.1548C>A c.(1546-1548)ATC>ATA p.I516I NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 516 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CACCCAGGATGATTTTGAAGT 0.567 NA 6 21 5.94e-07 7.05e-07 1 0 ATP13A5 344905 broad.mit.edu 37 3 193042775 193042775 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:193042775C>A uc011bsq.1 - 14 1552 c.1552G>T c.(1552-1554)GGC>TGC p.G518C NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 518 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACAGCCTGGCCTGAGGCAAAG 0.502 NA 36 284 2.42e-17 3.37e-17 1 0 ATP13A3 79572 broad.mit.edu 37 3 194149602 194149602 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:194149602C>T uc003fty.3 - 27 3321 c.2919G>A c.(2917-2919)CTG>CTA p.L973L NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 973 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AAATGATTGCCAGATCAATGA 0.274 NA 12 94 0 0 0 0 TMEM44 93109 broad.mit.edu 37 3 194344010 194344010 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:194344010C>A uc010hzn.2 - 5 724 c.555G>T c.(553-555)CTG>CTT p.L185L TMEM44_uc003fue.2_Silent_p.L185L|TMEM44_uc003fud.2_Silent_p.L185L|TMEM44_uc003fuf.2_Silent_p.L185L|TMEM44_uc011bsv.1_Silent_p.L185L|TMEM44_uc003fuh.1_RNA NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 185 Helical; (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CAACGCTACCCAGCAGGTAGC 0.572 NA 28 17 4.15e-07 4.95e-07 1 0 MUC4 4585 broad.mit.edu 37 3 195479980 195479980 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:195479980G>A uc011bto.1 - 21 15526 c.15066C>T c.(15064-15066)GCC>GCT p.A5022A MUC4_uc010hzq.2_Silent_p.A7A|MUC4_uc003fuz.2_Silent_p.A748A|MUC4_uc003fva.2_Silent_p.A630A|MUC4_uc003fvb.2_Silent_p.A666A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.A666A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.A630A|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.A714A|MUC4_uc011bti.1_Silent_p.A714A|MUC4_uc011btj.1_Silent_p.A891A|MUC4_uc011btk.1_Silent_p.A630A|MUC4_uc011btl.1_Silent_p.A659A|MUC4_uc011btm.1_Silent_p.A839A|MUC4_uc011btn.1_Silent_p.A630A|MUC4_uc003fvo.2_Silent_p.A914A|MUC4_uc003fvp.2_Silent_p.A863A NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1907 EGF-like 1. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCAGTGAAGGCTGGGGGGC 0.592 NA 77 191 0 0 0 0 LMLN 89782 broad.mit.edu 37 3 197707351 197707351 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:197707351G>A uc011buo.1 + 6 726 c.704G>A c.(703-705)TGT>TAT p.C235Y LMLN_uc003fyt.2_Missense_Mutation_p.C183Y|LMLN_uc010iar.2_Missense_Mutation_p.C235Y|LMLN_uc010ias.2_Missense_Mutation_p.C183Y|LMLN_uc003fyu.2_5'UTR NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 235 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GCAGCCTATTGTCAGCAGGAA 0.433 NA 13 277 0 0 0 0 CWH43 80157 broad.mit.edu 37 4 49000563 49000563 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:49000563C>T uc003gyv.2 + 6 982 c.800C>T c.(799-801)ACA>ATA p.T267I CWH43_uc011bzl.1_Missense_Mutation_p.T240I NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 267 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 TGGTGGGTTACAGGTATGTGG 0.453 NA 48 20 0 0 0 0 EXOC1 55763 broad.mit.edu 37 4 56744196 56744196 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:56744196G>A uc003hbe.1 + 9 1346 c.1188G>A c.(1186-1188)AAG>AAA p.K396K EXOC1_uc003hbf.1_Silent_p.K396K|EXOC1_uc003hbg.1_Silent_p.K396K NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 396 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AGTGGCTAAAGAGTACAGATT 0.383 NA 46 31 0 0 0 0 NUP54 53371 broad.mit.edu 37 4 77039260 77039260 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:77039260G>A uc003hjs.2 - 10 1380 c.1252C>T c.(1252-1254)CAG>TAG p.Q418* NUP54_uc010ije.2_Nonsense_Mutation_p.Q136*|NUP54_uc011cbs.1_Nonsense_Mutation_p.Q238*|NUP54_uc011cbt.1_Nonsense_Mutation_p.Q370*|NUP54_uc003hjt.2_Nonsense_Mutation_p.Q202* NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 418 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ovary(1)|lung(1) 2 AGTTCACCCTGAATCGTATCC 0.383 NA 10 55 0 0 0 0 GRID2 2895 broad.mit.edu 37 4 94377028 94377028 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:94377028G>C uc011cdt.1 + 11 2019 c.1761G>C c.(1759-1761)TTG>TTC p.L587F GRID2_uc011cdu.1_Missense_Mutation_p.L492F NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 587 Helical; (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCTACCTCTTGAACTGGCTTA 0.453 NA 8 74 0 0 0 0 PDHA2 5161 broad.mit.edu 37 4 96762223 96762223 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:96762223G>A uc003htr.3 + 1 985 c.922G>A c.(922-924)GTA>ATA p.V308I NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 308 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AATTCAGGAAGTAAGAAGTAA 0.438 NA 38 22 0 0 0 0 DDIT4L 115265 broad.mit.edu 37 4 101111077 101111077 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:101111077C>A uc003hvq.2 - 2 267 c.64G>T c.(64-66)GGC>TGC p.G22C NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 22 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) GGGTGATAGCCACAGTCCAGC 0.592 NA 27 16 1.08e-15 1.49e-15 1 0 NHEDC1 150159 broad.mit.edu 37 4 103870556 103870556 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:103870556C>A uc003hww.2 - 4 362 c.240G>T c.(238-240)ATG>ATT p.M80I NHEDC1_uc003hwu.2_Missense_Mutation_p.M80I|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 80 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) TTGACCAGGTCATACACCATA 0.338 NA 37 35 9.15e-12 1.2e-11 1 0 ANK2 287 broad.mit.edu 37 4 114238907 114238907 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:114238907C>T uc003ibe.3 + 25 2838 c.2738C>T c.(2737-2739)GCC>GTC p.A913V ANK2_uc003ibd.3_Missense_Mutation_p.A892V|ANK2_uc003ibf.3_Missense_Mutation_p.A913V|ANK2_uc011cgc.1_Missense_Mutation_p.A122V|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.A889V|ANK2_uc011cgb.1_Missense_Mutation_p.A928V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 913 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGAGCCATGCCTCCTACCTG 0.527 NA 26 18 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114275560 114275560 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:114275560C>T uc003ibe.3 + 38 5886 c.5786C>T c.(5785-5787)TCG>TTG p.S1929L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1944L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1896 Repeat-rich region.|Repeat A; approximate. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCGCCAGTATCGCCTGGGAGA 0.522 NA 12 27 0 0 0 0 TNIP3 79931 broad.mit.edu 37 4 122075747 122075748 + Nonsense_Mutation DNP CC CC AA TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:122075747_122075748CC>AA uc010ing.2 - 5 646_647 c.450_451GG>TT c.(448-453)AAGGAA>AATTAA p.150_151KE>N* TNIP3_uc010inh.2_Nonsense_Mutation_p.150_151KE>N*|TNIP3_uc011cgj.1_Nonsense_Mutation_p.208_209KE>N*|TNIP3_uc010ini.2_Nonsense_Mutation_p.150_151KE>N* NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 150_151 Potential. ovary(1) 1 TGTTCCTTTTCCTTGTTCGCAA 0.347 NA 19 14 0 0 0 0 ANKRD50 57182 broad.mit.edu 37 4 125591844 125591844 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:125591844C>T uc003ifg.3 - 3 2854 c.2588G>A c.(2587-2589)TGT>TAT p.C863Y ANKRD50_uc011cgo.1_Missense_Mutation_p.C684Y|ANKRD50_uc010inw.2_Missense_Mutation_p.C863Y NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 863 ANK 12. central_nervous_system(1) 1 AAGTGCTTCACATATCAATCT 0.408 NA 63 29 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126336137 126336137 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:126336137G>T uc003ifj.3 + 5 6019 c.6019G>T c.(6019-6021)GAT>TAT p.D2007Y FAT4_uc011cgp.1_Missense_Mutation_p.D305Y NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2007 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AAAAGCTTTGGATCGGGAAAG 0.443 NA 75 48 2.15e-50 3.36e-50 1 0 INTU 27152 broad.mit.edu 37 4 128637585 128637585 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:128637585C>T uc003ifk.1 + 16 2893 c.2823C>T c.(2821-2823)ACC>ACT p.T941T INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 941 ovary(1) 1 TTGGGTTAACCTTGTAGCTGT 0.358 NA 22 17 0 0 0 0 LRAT 9227 broad.mit.edu 37 4 155665906 155665906 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:155665906G>A uc003iom.1 + 1 755 c.428G>A c.(427-429)CGG>CAG p.R143Q uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R143Q NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 143 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GAGGTGGCGCGGAGGGCTGAA 0.582 NA 33 19 0 0 0 0 TDO2 6999 broad.mit.edu 37 4 156831334 156831334 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:156831334C>A uc003ipf.1 + 6 653 c.589C>A c.(589-591)CAG>AAG p.Q197K NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 197 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TAAATCTGAGCAGGAAAAGAC 0.328 NA 34 26 3.3e-07 3.94e-07 1 0 FRG1 2483 broad.mit.edu 37 4 190878615 190878615 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:190878615A>T uc003izs.2 + 6 686 c.495A>T c.(493-495)ATA>ATT p.I165I NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 165 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) CAGGGGACATAGAAGCAAAAA 0.378 NA 22 113 0 0 0 0 TPPP 11076 broad.mit.edu 37 5 677917 677917 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:677917C>A uc003jbg.3 - 1 977 c.259G>T c.(259-261)GAC>TAC p.D87Y TPPP_uc003jbh.3_Missense_Mutation_p.D87Y NM_007030 NP_008961 O94811 TPPP_HUMAN tubulin polymerization promoting protein 87 Mediates interaction with LIMK1. microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding 0 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) TTCCTGCCGTCGATCACCTGG 0.642 NA 33 56 8.42e-14 1.13e-13 1 0 NSUN2 54888 broad.mit.edu 37 5 6609987 6609987 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:6609987T>A uc003jdu.2 - 12 1340 c.1275A>T c.(1273-1275)GCA>GCT p.A425A NSUN2_uc003jdt.2_Silent_p.A189A|NSUN2_uc011cmk.1_Silent_p.A390A|NSUN2_uc003jdv.2_Silent_p.A189A NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 425 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 TCACCAATACTGCCACAAAAA 0.328 NA 35 40 0 0 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867502 7867502 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:7867502C>T uc003jeb.2 - 2 832 c.695G>A c.(694-696)GGT>GAT p.G232D FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 232 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TGTCACACAACCTGAACTGTG 0.418 NA 22 74 0 0 0 0 MTRR 4552 broad.mit.edu 37 5 7897181 7897181 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:7897181A>G uc003jed.2 + 14 1884 c.1854A>G c.(1852-1854)AAA>AAG p.K618K MTRR_uc003jee.3_Silent_p.K591K|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 618 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) ATTTCAGAAAAGAGCTCAGAC 0.388 NA 15 20 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202224 9202224 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:9202224C>A uc003jek.2 - 9 1487 c.775G>T c.(775-777)GGT>TGT p.G259C NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 259 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AAGCGCCCACCAATATCGTTC 0.507 NA 30 59 4.03e-09 5.04e-09 1 0 PRDM9 56979 broad.mit.edu 37 5 23522738 23522738 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:23522738A>G uc003jgo.2 + 8 808 c.626A>G c.(625-627)CAG>CGG p.Q209R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 209 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 GAGATGTGTCAGAACTTCTTC 0.483 NA HNSCC(3;0.000094) 20 15 0 0 0 0 CDH6 1004 broad.mit.edu 37 5 31323142 31323142 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:31323142C>A uc003jhe.1 + 12 2426 c.2100C>A c.(2098-2100)CCC>CCA p.P700P NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 700 Cytoplasmic (Potential). 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 TTTTCCTACCCCGACGGACTC 0.517 NA 15 50 0.000308642 0.000338576 1 0 TARS 6897 broad.mit.edu 37 5 33461070 33461070 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:33461070G>A uc003jhy.2 + 12 1609 c.1314G>A c.(1312-1314)GGG>GGA p.G438G TARS_uc011cob.1_Silent_p.G426G|TARS_uc010iup.1_Silent_p.G379G|TARS_uc011coc.1_Silent_p.G459G|TARS_uc003jhz.2_Silent_p.G334G|TARS_uc011cod.1_Silent_p.G317G NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 438 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) CTGATTTTGGGGTACTTCATA 0.502 NA 18 48 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35654802 35654802 + Nonsense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:35654802C>T uc003jjo.2 + 7 1063 c.952C>T c.(952-954)CAG>TAG p.Q318* SPEF2_uc003jjn.1_Nonsense_Mutation_p.Q318*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.Q318* NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 318 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTAATGGACCAGTTAATAGC 0.383 NA 45 43 0 0 0 0 SKP2 6502 broad.mit.edu 37 5 36184011 36184011 + Silent SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:36184011T>G uc003jkd.2 + 10 1307 c.1131T>G c.(1129-1131)ACT>ACG p.T377T NM_032637 NP_116026 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 2 Error:Variant_position_missing_in_Q13309_after_alignment anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATACAGAACTTCCAAACTCA 0.363 NA 7 71 0 0 0 0 PTGER4 5734 broad.mit.edu 37 5 40681505 40681505 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:40681505G>T uc003jlz.2 + 2 1002 c.410G>T c.(409-411)GGC>GTC p.G137V NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 137 Helical; Name=4; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 CGATTGGCGGGCCTCACGCTC 0.597 NA OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 74 9.6e-30 1.46e-29 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41038946 41038946 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:41038946C>A uc003jmj.3 - 21 2596 c.2106G>T c.(2104-2106)ATG>ATT p.M702I HEATR7B2_uc003jmi.3_Missense_Mutation_p.M257I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 702 binding ovary(6)|central_nervous_system(2) 8 CATAGATGACCATGACATCTG 0.453 NA 19 57 7.42e-09 9.23e-09 1 0 MGC42105 167359 broad.mit.edu 37 5 43280809 43280809 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:43280809C>G uc003jno.2 + 4 2170 c.1289C>G c.(1288-1290)TCC>TGC p.S430C NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 430 ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 AGACACACATCCAAATTTTGC 0.403 NA 25 33 0 0 0 0 CCL28 56477 broad.mit.edu 37 5 43382139 43382139 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:43382139G>T uc003jnu.2 - 3 277 c.207C>A c.(205-207)CGC>CGA p.R69R CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Silent_p.R22R NM_148672 NP_683513 Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 precursor 69 chemotaxis|immune response extracellular space chemokine activity ovary(1)|kidney(1) 2 AGATTCTTCTGCGCTTGACAT 0.398 NA 12 60 6.4e-05 7.16e-05 1 0 MAP1B 4131 broad.mit.edu 37 5 71492252 71492252 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:71492252G>A uc003kbw.3 + 5 3311 c.3070G>A c.(3070-3072)GAC>AAC p.D1024N MAP1B_uc010iyw.1_Missense_Mutation_p.D1041N|MAP1B_uc010iyx.1_Missense_Mutation_p.D898N|MAP1B_uc010iyy.1_Missense_Mutation_p.D898N NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1024 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TGATGAGGAGGACAAAGCTGA 0.532 NA 37 11 0 0 0 0 AP3B1 8546 broad.mit.edu 37 5 77385258 77385258 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:77385258G>T uc003kfj.2 - 22 2661 c.2536C>A c.(2536-2538)CTT>ATT p.L846I NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 846 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AAACCTTCAAGATCAGCCATC 0.393 NA Hermansky-Pudlak_syndrome 28 14 1.55e-18 2.2e-18 1 0 NR2F1 7025 broad.mit.edu 37 5 92923837 92923837 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:92923837G>C uc003kkj.2 + 2 2365 c.678G>C c.(676-678)CTG>CTC p.L226L NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 226 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CCGCGCGCCTGCTCTTCAGCG 0.652 NA 40 28 0 0 0 0 TRIM36 55521 broad.mit.edu 37 5 114472790 114472790 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:114472790A>G uc003kqs.2 - 7 1662 c.1153T>C c.(1153-1155)TTT>CTT p.F385L TRIM36_uc011cwc.1_Missense_Mutation_p.F373L|TRIM36_uc003kqt.2_Missense_Mutation_p.F230L NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 385 COS. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GCAGGTCTAAAGCTCTTCAAA 0.333 NA 12 13 0 0 0 0 P4HA2 8974 broad.mit.edu 37 5 131533904 131533904 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:131533904T>A uc003kwh.2 - 12 1930 c.1366A>T c.(1366-1368)AAC>TAC p.N456Y P4HA2_uc003kwg.2_Intron|P4HA2_uc003kwi.2_Intron|P4HA2_uc003kwk.2_Intron|P4HA2_uc003kwl.2_Missense_Mutation_p.N456Y|P4HA2_uc003kwj.2_Intron NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 456 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CTCACGTAGTTTAAGAAAGTA 0.502 NA 31 11 0 0 0 0 GFRA3 2676 broad.mit.edu 37 5 137593402 137593402 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:137593402G>T uc003lcn.2 - 4 851 c.711C>A c.(709-711)CCC>CCA p.P237P GFRA3_uc003lco.2_Silent_p.P206P NM_001496 NP_001487 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 preproprotein 237 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCGCGCAGTTGGGGGCGATGG 0.711 NA 16 6 3.53e-06 4.11e-06 1 0 NRG2 9542 broad.mit.edu 37 5 139231313 139231313 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:139231313G>T uc003lex.1 - 9 1873 c.1648C>A c.(1648-1650)CCA>ACA p.P550T NRG2_uc003lev.1_Missense_Mutation_p.P558T|NRG2_uc003lew.1_Missense_Mutation_p.P552T|NRG2_uc003ley.1_Missense_Mutation_p.P544T NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 550 Cytoplasmic (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACATGCTGGGCTGTTGCAT 0.627 NA 7 25 0.00198382 0.00212623 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188217 140188217 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140188217C>A uc003lhi.2 + 1 1546 c.1445C>A c.(1444-1446)GCG>GAG p.A482E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482E|PCDHA4_uc011daa.1_Missense_Mutation_p.A482E NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 482 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGGACGCGGACGCGCAG 0.657 NA 36 28 1.71e-08 2.12e-08 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188563 140188563 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140188563G>A uc003lhi.2 + 1 1892 c.1791G>A c.(1789-1791)GTG>GTA p.V597V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.V597V|PCDHA4_uc011daa.1_Silent_p.V597V NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 597 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGCGGTGGATGCTGACT 0.692 NA 41 21 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209620 140209620 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140209620G>T uc003lho.2 + 1 1971 c.1944G>T c.(1942-1944)CTG>CTT p.L648L 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_uc011dab.1_Silent_p.L648L NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 648 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGGCTGCTGGTGCTGGTGA 0.667 NA 37 16 3.66e-26 5.52e-26 1 0 PCDHA12 56137 broad.mit.edu 37 5 140257259 140257259 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140257259G>T uc003lic.2 + 1 2329 c.2202G>T c.(2200-2202)CCG>CCT p.P734P 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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P734P NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 734 5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).|PXXP 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCGCGCCGGGCAAGCCCA 0.682 NA 13 2 4.37e-10 5.55e-10 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140712446 140712446 + Nonsense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140712446T>A uc003lji.1 + 1 2195 c.2195T>A c.(2194-2196)TTA>TAA p.L732* PCDHGA1_uc011dan.1_Nonsense_Mutation_p.L732* NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 732 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGCGGCTTAGCGAGCATG 0.652 NA 50 35 0 0 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720611 140720611 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140720611G>T uc003ljk.1 + 1 2258 c.2073G>T c.(2071-2073)CTG>CTT p.L691L PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.L691L|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 691 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTCACTCTGTACCTGGTGG 0.677 NA 84 53 1.53e-57 2.39e-57 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140789266 140789267 + Missense_Mutation DNP GG GG TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140789266_140789267GG>TT uc003lkj.1 + 1 1497_1498 c.1497_1498GG>TT c.(1495-1500)CTGGCG>CTTTCG p.A500S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.A500S NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 500 Extracellular (Potential).|Cadherin 5. 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) TAGAGCCCCTGGCGGTGTCGTC 0.639 NA 15 7 0 0 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811002 140811002 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140811002G>A uc003lkt.1 + 1 845 c.676G>A c.(676-678)GCG>ACG p.A226T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A226T NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 226 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGGCACCGCGCGCATCCG 0.657 NA 33 12 0 0 0 0 ZNF300 91975 broad.mit.edu 37 5 150275854 150275854 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:150275854T>C uc003lsy.1 - 6 1214 c.947A>G c.(946-948)CAG>CGG p.Q316R IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 316 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGAGTTCTCTGATGTACAAC 0.398 NA 69 43 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153077675 153077675 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:153077675A>T uc003lva.3 + 9 1571 c.1206A>T c.(1204-1206)TCA>TCT p.S402S GRIA1_uc003luy.3_Silent_p.S402S|GRIA1_uc003luz.3_Silent_p.S307S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.S322S|GRIA1_uc011dcx.1_Silent_p.S333S|GRIA1_uc011dcy.1_Silent_p.S412S|GRIA1_uc011dcz.1_Silent_p.S412S|GRIA1_uc010jia.1_Silent_p.S382S NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 402 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCGATAATTCAAGTGTTCAGA 0.458 NA 16 15 0 0 0 0 SGCD 6444 broad.mit.edu 37 5 156184595 156184595 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:156184595G>T uc003lwd.3 + 7 1052 c.576G>T c.(574-576)TTG>TTT p.L192F SGCD_uc003lwb.2_Missense_Mutation_p.L193F|SGCD_uc003lwc.3_Missense_Mutation_p.L193F NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 192 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTCAGGTTGGAGTCCCCAA 0.443 NA 9 2 2.81e-09 3.52e-09 1 0 C5orf54 63920 broad.mit.edu 37 5 159821207 159821207 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:159821207C>A uc003lye.1 - 2 1755 c.1291G>T c.(1291-1293)GAA>TAA p.E431* C5orf54_uc003lyf.1_Nonsense_Mutation_p.E431* NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 431 pancreas(1) 1 attatttcttcaagaaaagga 0 NA 38 20 1.41e-09 1.78e-09 1 0 ATP10B 23120 broad.mit.edu 37 5 160029629 160029629 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:160029629G>A uc003lym.1 - 21 4165 c.3318C>T c.(3316-3318)TAC>TAT p.Y1106Y ATP10B_uc010jit.1_Silent_p.Y423Y NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1106 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGGCGCGAGTAACACCAGT 0.567 NA 22 10 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160033898 160033898 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:160033898C>A uc003lym.1 - 19 3881 c.3034G>T c.(3034-3036)GAG>TAG p.E1012* ATP10B_uc010jit.1_Nonsense_Mutation_p.E329* NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1012 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AACTTCTTCTCTAGCTTTCCC 0.507 NA 51 40 4.86e-25 7.28e-25 1 0 ODZ2 57451 broad.mit.edu 37 5 167655022 167655022 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:167655022A>G uc010jjd.2 + 25 5380 c.5380A>G c.(5380-5382)ATT>GTT p.I1794V ODZ2_uc003lzr.3_Missense_Mutation_p.I1564V|ODZ2_uc003lzt.3_Missense_Mutation_p.I1167V|ODZ2_uc010jje.2_Missense_Mutation_p.I1058V NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CACCCCCACCATTGGACGCTG 0.512 NA 14 5 0 0 0 0 HK3 3101 broad.mit.edu 37 5 176318482 176318482 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:176318482C>G uc003mfa.2 - 3 258 c.166G>C c.(166-168)GGT>CGT p.G56R HK3_uc003mez.2_5'Flank NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 56 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCATGGAACCCAAGAGGCTG 0.627 NA 30 28 0 0 0 0 ZNF346 23567 broad.mit.edu 37 5 176489129 176489129 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:176489129C>T uc003mfi.2 + 6 817 c.774C>T c.(772-774)GTC>GTT p.V258V ZNF346_uc011dfr.1_Silent_p.V226V|ZNF346_uc011dfs.1_Silent_p.V160V|ZNF346_uc003mfj.2_Silent_p.V82V|ZNF346_uc003mfk.1_Silent_p.V283V|ZNF346_uc011dft.1_Silent_p.V82V NM_012279 NP_036411 Q9UL40 ZN346_HUMAN zinc finger protein 346 258 Matrin-type 4. cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding 0 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCTCATGTCAGCGGCTTCA 0.408 NA 66 48 0 0 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178770807 178770807 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:178770807G>A uc003mjw.2 - 2 495 c.495C>T c.(493-495)GCC>GCT p.A165A ADAMTS2_uc011dgm.1_Silent_p.A165A NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 165 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGGAGGCTTCGGCTAGGCCGG 0.652 NA 6 8 0 0 0 0 JARID2 3720 broad.mit.edu 37 6 15468903 15468903 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:15468903G>T uc003nbj.2 + 5 868 c.624G>T c.(622-624)TCG>TCT p.S208S JARID2_uc011diu.1_Silent_p.S72S|JARID2_uc011div.1_Silent_p.S36S|JARID2_uc011diw.1_Silent_p.S170S NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 208 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CATGCCAGTCGACCCCCAGGA 0.468 NA 37 57 3.72e-46 5.78e-46 1 0 OR2B6 26212 broad.mit.edu 37 6 27925284 27925284 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:27925284G>A uc011dkx.1 + 1 266 c.266G>A c.(265-267)AGG>AAG p.R89K NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCAGCATCAGGAAAGTAATC 0.428 NA 30 16 0 0 0 0 COL11A2 1302 broad.mit.edu 37 6 33146751 33146751 + Splice_Site SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:33146751C>A uc003ocx.1 - 17 1840 c.1612_splice c.e17-1 p.G538_splice COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Splice_Site_p.G452_splice|COL11A2_uc003ocz.1_Splice_Site_p.G431_splice NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CTGCCCGGCCCTGGGAGAACA 0.647 NA 16 11 0.00400662 0.00426668 1 0 RGL2 5863 broad.mit.edu 37 6 33264212 33264212 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:33264212T>C uc003odv.2 - 5 582 c.449A>G c.(448-450)GAC>GGC p.D150G RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Missense_Mutation_p.D68G|RGL2_uc011drb.1_Missense_Mutation_p.D68G NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 150 N-terminal Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 CTCTAGTTCGTCGGTAGGATG 0.522 NA 33 18 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40399511 40399511 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:40399511G>A uc003oph.1 - 2 1807 c.1342C>T c.(1342-1344)CGG>TGG p.R448W NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 448 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) ATCTTCACCCGGGGTGCTGAC 0.592 NA 11 37 0 0 0 0 TFEB 7942 broad.mit.edu 37 6 41653831 41653831 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:41653831G>T uc003oqs.1 - 9 1250 c.948C>A c.(946-948)ATC>ATA p.I316I TFEB_uc003oqt.1_Silent_p.I316I|TFEB_uc003oqu.1_Silent_p.I330I|TFEB_uc003oqr.1_Silent_p.I231I NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 316 Leucine-zipper. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACCAGACCTGGATACGGAGCC 0.537 NA T ALPHA renal (childhood epithelioid) 15 61 3.41e-10 4.34e-10 1 0 CUL7 9820 broad.mit.edu 37 6 43020081 43020081 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:43020081C>T uc003otq.2 - 2 749 c.446G>A c.(445-447)AGC>AAC p.S149N CUL7_uc011dvb.1_Missense_Mutation_p.S201N|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 149 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGCTCAATGCTGGCATAGGC 0.557 NA 4 35 0 0 0 0 PTK7 5754 broad.mit.edu 37 6 43109969 43109969 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:43109969G>T uc003oub.1 + 13 2177 c.1979G>T c.(1978-1980)GGC>GTC p.G660V PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.G620V|PTK7_uc003oue.1_Missense_Mutation_p.G530V|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.G668V|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 660 Ig-like C2-type 7.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GAGGACTCAGGCCGCTACACC 0.607 NA 27 40 4.75e-14 6.43e-14 1 0 TINAG 27283 broad.mit.edu 37 6 54191661 54191661 + Missense_Mutation SNP C C T rs115438249 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:54191661C>T uc003pcj.2 + 4 717 c.571C>T c.(571-573)CGC>TGC p.R191C TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 191 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTTAAATTTCGCCTTGGCAC 0.373 NA 26 38 0 0 0 0 TINAG 27283 broad.mit.edu 37 6 54214671 54214671 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:54214671C>A uc003pcj.2 + 7 1203 c.1057C>A c.(1057-1059)CCT>ACT p.P353T TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 353 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TCAATGTTCTCCTCCATACAG 0.408 NA 11 51 7.93e-07 9.38e-07 1 0 PRIM2 5558 broad.mit.edu 37 6 57512611 57512611 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:57512611C>T uc003pdx.2 + 15 1526 c.1439C>T c.(1438-1440)ACC>ATC p.T480I NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 480 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GTCCAGAAAACCAAGGATGCA 0.403 NA 60 373 0 0 0 0 DDX43 55510 broad.mit.edu 37 6 74116174 74116174 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:74116174C>A uc003pgw.2 + 7 1239 c.895C>A c.(895-897)CCT>ACT p.P299T DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 299 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 TTATTTAATGCCTGGATTTAT 0.378 NA 23 20 9.58e-11 1.23e-10 1 0 FUT9 10690 broad.mit.edu 37 6 96651708 96651708 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:96651708T>A uc003pop.3 + 3 1018 c.677T>A c.(676-678)GTC>GAC p.V226D NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 226 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GGAGAATATGTCAATGATAAA 0.353 NA 8 20 0 0 0 0 LIN28B 389421 broad.mit.edu 37 6 105406156 105406156 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:105406156C>G uc003pqv.1 + 2 396 c.193C>G c.(193-195)CAC>GAC p.H65D LIN28B_uc010kda.1_Missense_Mutation_p.H25D NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 65 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding 0 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) TGTATTTGTACACCAAGTAAG 0.453 NA 36 56 0 0 0 0 C6orf203 51250 broad.mit.edu 37 6 107361208 107361208 + Missense_Mutation SNP G G A rs150832095 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:107361208G>A uc003prq.2 + 2 325 c.244G>A c.(244-246)GTA>ATA p.V82I C6orf203_uc011eaj.1_Missense_Mutation_p.V87I|C6orf203_uc010kde.2_Missense_Mutation_p.V82I NM_016487 NP_057571 Q9P0P8 CF203_HUMAN hypothetical protein LOC51250 isoform a 82 0 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) TCCTTTTTCCGTAAGACTCAA 0.333 NA 25 55 0 0 0 0 GPR6 2830 broad.mit.edu 37 6 110301114 110301114 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:110301114G>T uc011eaw.1 + 2 979 c.799G>T c.(799-801)GCG>TCG p.A267S GPR6_uc011eav.1_Missense_Mutation_p.A282S|GPR6_uc003ptu.2_Missense_Mutation_p.A267S NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 267 Cytoplasmic (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GCACTGCCTGGCGCCACCCCA 0.637 NA 7 37 5.49e-09 6.85e-09 1 0 ROS1 6098 broad.mit.edu 37 6 117665282 117665282 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:117665282C>A uc003pxp.1 - 27 4664 c.4465G>T c.(4465-4467)GTT>TTT p.V1489F ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1489 Extracellular (Potential).|Fibronectin type-III 6. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCATAATAAACCAGGTATGTT 0.398 NA T GOPC|ROS1 glioblastoma|NSCLC 17 32 5.35e-07 6.37e-07 1 0 LAMA2 3908 broad.mit.edu 37 6 129704301 129704301 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:129704301G>T uc003qbn.2 + 35 5099 c.4994G>T c.(4993-4995)GGA>GTA p.G1665V LAMA2_uc003qbo.2_Missense_Mutation_p.G1665V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1665 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGCAGACCGGACAGGATGCT 0.448 NA 10 17 0.000978159 0.00105749 1 0 MOXD1 26002 broad.mit.edu 37 6 132722446 132722446 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:132722446G>T uc003qdf.2 - 1 219 c.120C>A c.(118-120)GGC>GGA p.G40G NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 40 Lumenal (Potential).|DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GCTGGCTCCAGCCCAGCCAGT 0.736 NA 6 7 1.07e-07 1.29e-07 1 0 TAAR2 9287 broad.mit.edu 37 6 132938351 132938351 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:132938351C>T uc003qdl.1 - 2 994 c.994G>A c.(994-996)GGT>AGT p.G332S TAAR2_uc010kfr.1_Missense_Mutation_p.G287S NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 332 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AAAATTTTACCTAGCAAAATG 0.343 NA 23 20 0 0 0 0 VNN2 8875 broad.mit.edu 37 6 133073775 133073775 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:133073775A>G uc003qdt.2 - 4 662 c.651T>C c.(649-651)TAT>TAC p.Y217Y VNN2_uc003qds.2_Intron|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.Y164Y NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 217 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CACCAGGATCATAGAAGAATA 0.443 NA 42 95 0 0 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239568 135239568 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:135239568G>T uc003qew.2 - 7 1502 c.1449C>A c.(1447-1449)ATC>ATA p.I483I ALDH8A1_uc003qex.2_Silent_p.I429I|ALDH8A1_uc010kgh.2_Silent_p.I261I|ALDH8A1_uc011ecx.1_Silent_p.I433I NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 483 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) GTTTAACGGTGATGGTTTTGA 0.478 NA 13 30 1.5e-05 1.71e-05 1 0 OLIG3 167826 broad.mit.edu 37 6 137814953 137814953 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:137814953G>C uc003qhp.1 - 1 579 c.355C>G c.(355-357)CGC>GGC p.R119G NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 119 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GAGAGCTTGCGCACCGACGGC 0.602 NA 17 50 0 0 0 0 ULBP1 80329 broad.mit.edu 37 6 150290448 150290448 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:150290448T>C uc003qnp.2 + 3 620 c.577T>C c.(577-579)TGG>CGG p.W193R NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 193 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TTGTAAGATGTGGCTTGAAGA 0.448 NA 52 65 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152652521 152652521 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:152652521G>T uc010kiw.2 - 78 13901 c.13299C>A c.(13297-13299)CAC>CAA p.H4433Q SYNE1_uc003qot.3_Missense_Mutation_p.H4362Q|SYNE1_uc003qou.3_Missense_Mutation_p.H4433Q|SYNE1_uc010kiz.2_Missense_Mutation_p.H188Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4433 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) GACAATTCACGTGGCTTTGTG 0.493 NA HNSCC(10;0.0054) 35 29 9.81e-26 1.47e-25 1 0 RGS17 26575 broad.mit.edu 37 6 153347653 153347653 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:153347653C>A uc003qpm.2 - 3 301 c.145G>T c.(145-147)GGG>TGG p.G49W NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 49 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) GCATTTTCCCCTCTTTCTTCA 0.398 NA Lung_Cancer_Familial_Clustering_of 23 89 1.75e-13 2.34e-13 1 0 SYNJ2 8871 broad.mit.edu 37 6 158454617 158454617 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:158454617G>T uc003qqx.1 + 4 691 c.616G>T c.(616-618)GTC>TTC p.V206F SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.V206F|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.V155F|SYNJ2_uc010kjo.1_Missense_Mutation_p.V155F NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 206 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GGCCTGCCTCGTCTCTCGCGT 0.622 NA 23 32 4.72e-08 5.76e-08 1 0 PDE10A 10846 broad.mit.edu 37 6 165752772 165752772 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:165752772C>A uc003qun.2 - 21 2384 c.2143G>T c.(2143-2145)GGC>TGC p.G715C PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G645C|PDE10A_uc003quo.2_Missense_Mutation_p.G725C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 715 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CATACCTGGCCTTGGGGGACT 0.353 NA 23 92 5.35e-11 6.91e-11 1 0 T 6862 broad.mit.edu 37 6 166581041 166581041 + Silent SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:166581041C>G uc003quu.1 - 2 532 c.39G>C c.(37-39)CTG>CTC p.L13L T_uc003qut.1_Silent_p.L13L|T_uc003quv.1_Silent_p.L13L NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 13 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CTCGGTACTGCAGGCTCTTTC 0.697 NA Chordoma_Familial_Clustering_of 5 8 0 0 0 0 FRMD1 79981 broad.mit.edu 37 6 168457935 168457935 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:168457935G>T uc003qwo.3 - 11 1557 c.1492C>A c.(1492-1494)CCA>ACA p.P498T FRMD1_uc003qwm.3_Missense_Mutation_p.P292T|FRMD1_uc011egs.1_Missense_Mutation_p.P269T|FRMD1_uc011egt.1_Missense_Mutation_p.P433T|FRMD1_uc003qwn.3_Missense_Mutation_p.P430T NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 498 cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GTGGGCGCTGGGTGCAGGGCC 0.672 NA 8 3 5.18e-06 6e-06 1 0 FRMD1 79981 broad.mit.edu 37 6 168464370 168464370 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:168464370C>A uc003qwo.3 - 6 780 c.715G>T c.(715-717)GGC>TGC p.G239C FRMD1_uc003qwm.3_Missense_Mutation_p.G10C|FRMD1_uc011egs.1_Missense_Mutation_p.G10C|FRMD1_uc011egt.1_Missense_Mutation_p.G151C|FRMD1_uc003qwn.3_Missense_Mutation_p.G171C NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 239 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGGCTCAGGCCCTGGCGCTCA 0.642 NA 15 31 1.03e-11 1.35e-11 1 0 DNAH11 8701 broad.mit.edu 37 7 21747362 21747362 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:21747362C>T uc003svc.2 + 41 6644 c.6613C>T c.(6613-6615)CCG>TCG p.P2205S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2205 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GAAACAGAAGCCGGTTTGGAA 0.383 NA Kartagener_syndrome 13 25 0 0 0 0 CCDC126 90693 broad.mit.edu 37 7 23682551 23682551 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:23682551G>T uc003swl.2 + 4 697 c.240G>T c.(238-240)GCG>GCT p.A80A CCDC126_uc003swm.2_Silent_p.A80A|CCDC126_uc003swn.2_Silent_p.A80A NM_138771 NP_620126 Q96EE4 CC126_HUMAN coiled-coil domain containing 126 precursor 80 extracellular region ovary(1)|skin(1) 2 TTCCCCTAGCGGATCTGAAAA 0.368 NA 25 35 3.8e-18 5.33e-18 1 0 LOC402644 402644 broad.mit.edu 37 7 28318964 28318964 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:28318964C>A uc010kuz.1 - 1 355 c.355G>T c.(355-357)GGG>TGG p.G119W NM_001126493 NP_001119965 hypothetical protein LOC402644 0 CCAACCACCCCGTCTTGGCAG 0.468 NA 19 30 1.96e-10 2.51e-10 1 0 PDE1C 5137 broad.mit.edu 37 7 31864484 31864484 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:31864484G>C uc003tcm.1 - 13 1872 c.1403C>G c.(1402-1404)TCG>TGG p.S468W PDE1C_uc003tcn.1_Missense_Mutation_p.S468W|PDE1C_uc003tco.1_Missense_Mutation_p.S528W|PDE1C_uc003tcr.2_Missense_Mutation_p.S468W|PDE1C_uc003tcs.2_Missense_Mutation_p.S468W NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 468 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.S468S(1) skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CACTGACCTCGAACGCCTCTG 0.512 NA 42 94 0 0 0 0 BMPER 168667 broad.mit.edu 37 7 34009964 34009964 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:34009964G>A uc011kap.1 + 5 540 c.426G>A c.(424-426)GGG>GGA p.G142G NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 142 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CAGAGTCTGGGGTGCGCTGTG 0.488 NA 44 77 0 0 0 0 URGCP 55665 broad.mit.edu 37 7 43917780 43917780 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:43917780C>A uc003tiw.2 - 6 1339 c.1282G>T c.(1282-1284)GTG>TTG p.V428L URGCP_uc003tiu.2_Missense_Mutation_p.V385L|URGCP_uc003tiv.2_Missense_Mutation_p.V353L|URGCP_uc003tix.2_Missense_Mutation_p.V419L|URGCP_uc003tiy.2_Missense_Mutation_p.V385L|URGCP_uc003tiz.2_Missense_Mutation_p.V385L|URGCP_uc011kbj.1_Missense_Mutation_p.V385L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 428 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 ATCCTCTTCACGAAGCTGTCG 0.537 NA 46 110 1.49e-19 2.14e-19 1 0 DDX56 54606 broad.mit.edu 37 7 44609415 44609415 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:44609415G>A uc003tlg.2 - 9 1855 c.1212C>T c.(1210-1212)CTC>CTT p.L404L DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.L340L|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.L364L|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 404 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 TACCTCCACTGAGAAGCTCCT 0.507 NA 12 12 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57194381 57194381 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:57194381C>T uc010kzo.2 - 3 355 c.84G>A c.(82-84)GAG>GAA p.E28E NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) ATTGCCATTCCTCCAGAGAGA 0.438 NA 30 46 0 0 0 0 ZNF735 730291 broad.mit.edu 37 7 63680233 63680233 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:63680233C>A uc011kdn.1 + 4 804 c.804C>A c.(802-804)CCC>CCA p.P268P NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCCTACGCATGTG 0.448 NA 8 22 0.000157383 0.000174701 1 0 NSUN5 55695 broad.mit.edu 37 7 72718297 72718297 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:72718297C>A uc003txw.2 - 7 900 c.864G>T c.(862-864)GCG>GCT p.A288A FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.A288A|NSUN5_uc003txx.2_Silent_p.A250A|NSUN5_uc011kev.1_Silent_p.A288A NM_018044 NP_060514 Q96P11 NSUN5_HUMAN NOL1/NOP2/Sun domain family, member 5 isoform 2 288 methyltransferase activity 0 Lung NSC(55;0.163) AGGGGGAGACCGCCAGGAAGT 0.592 NA 17 33 5.39e-06 6.24e-06 1 0 PCLO 27445 broad.mit.edu 37 7 82584629 82584629 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:82584629T>A uc003uhx.2 - 5 5929 c.5640A>T c.(5638-5640)GTA>GTT p.V1880V PCLO_uc003uhv.2_Silent_p.V1880V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1811 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AAACTTTTTGTACTTCTATTA 0.368 NA 22 34 0 0 0 0 ABCB1 5243 broad.mit.edu 37 7 87173503 87173503 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:87173503G>T uc003uiz.1 - 18 2571 c.2153C>A c.(2152-2154)GCC>GAC p.A718D ABCB1_uc011khc.1_Missense_Mutation_p.A654D NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 718 ABC transmembrane type-1 2.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATTTATAATGGCACAAAATAC 0.358 NA 33 55 1.4e-27 2.11e-27 1 0 STEAP4 79689 broad.mit.edu 37 7 87910388 87910388 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:87910388G>A uc003ujs.2 - 4 1096 c.991C>T c.(991-993)CTC>TTC p.L331F STEAP4_uc010lek.2_Missense_Mutation_p.L155F NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 331 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) TCCTTCTTGAGTATTGCCTAA 0.368 NA 13 23 0 0 0 0 STEAP2 261729 broad.mit.edu 37 7 89856546 89856546 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:89856546A>G uc003ujz.2 + 3 1147 c.754A>G c.(754-756)ATA>GTA p.I252V STEAP2_uc003ujy.2_Missense_Mutation_p.I294V|STEAP2_uc010len.2_Missense_Mutation_p.I252V|STEAP2_uc003uka.2_Missense_Mutation_p.I252V|STEAP2_uc003ukb.2_Missense_Mutation_p.I252V|STEAP2_uc003ukc.2_Missense_Mutation_p.I252V|STEAP2_uc003ukd.2_Missense_Mutation_p.I252V NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 252 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) CAAAATTCCTATAGAGATTGT 0.378 NA 36 62 0 0 0 0 PEX1 5189 broad.mit.edu 37 7 92143172 92143172 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:92143172C>G uc003uly.2 - 6 1445 c.1349G>C c.(1348-1350)AGA>ACA p.R450T PEX1_uc011khr.1_Missense_Mutation_p.R242T|PEX1_uc010ley.2_Missense_Mutation_p.R450T|PEX1_uc011khs.1_Missense_Mutation_p.R128T|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 450 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TAAATTCTCTCTAGGTTGTAA 0.328 NA 41 70 0 0 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848626 92848626 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:92848626G>A uc003umm.2 - 2 241 c.218C>T c.(217-219)CCC>CTC p.P73L HEPACAM2_uc003uml.2_Missense_Mutation_p.P61L|HEPACAM2_uc010lff.2_Missense_Mutation_p.P61L|HEPACAM2_uc011khy.1_Missense_Mutation_p.P96L NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 73 Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 CATTGTGTGGGGTCTCTCAAA 0.498 NA 38 55 0 0 0 0 FBXO24 26261 broad.mit.edu 37 7 100192139 100192139 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:100192139C>A uc003uvm.1 + 6 1220 c.927C>A c.(925-927)AAC>AAA p.N309K FBXO24_uc003uvl.1_Missense_Mutation_p.N295K|FBXO24_uc003uvn.1_Missense_Mutation_p.N4K|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.N347K|FBXO24_uc011kka.1_Missense_Mutation_p.N297K NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 309 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGACTTCCAACCAGAGCAGCA 0.602 NA 18 22 5.01e-05 5.62e-05 1 0 ACHE 43 broad.mit.edu 37 7 100490790 100490790 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:100490790A>G uc003uxd.2 - 1 1220 c.1064T>C c.(1063-1065)CTG>CCG p.L355P ACHE_uc003uxe.2_Missense_Mutation_p.L355P|ACHE_uc003uxf.2_Missense_Mutation_p.L355P|ACHE_uc003uxg.2_Missense_Mutation_p.L355P|ACHE_uc003uxh.2_Missense_Mutation_p.L355P|ACHE_uc003uxi.2_Missense_Mutation_p.L355P|ACHE_uc003uxj.1_Missense_Mutation_p.L474P NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 355 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) AGTTACCTGCAGGCCGTGGAA 0.622 NA 7 19 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100679156 100679156 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:100679156G>A uc003uxp.1 + 3 4512 c.4459G>A c.(4459-4461)GTC>ATC p.V1487I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1487 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTCCTGTGGTCACTTCTAC 0.468 NA 100 238 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103389906 103389906 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:103389906G>T uc003vca.2 - 6 783 c.623C>A c.(622-624)TCC>TAC p.S208Y RELN_uc010liz.2_Missense_Mutation_p.S208Y NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 208 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTGGTGGTAGGAGTCAAAGTC 0.343 NA 57 70 2.17e-29 3.28e-29 1 0 LAMB4 22798 broad.mit.edu 37 7 107704266 107704266 + Missense_Mutation SNP C C T rs142967094 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:107704266C>T uc010ljo.1 - 22 3085 c.3001G>A c.(3001-3003)GCA>ACA p.A1001T LAMB4_uc003vey.2_Missense_Mutation_p.A1001T|LAMB4_uc010ljp.1_5'UTR NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1001 Laminin EGF-like 10. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGGCAGTTTGCGCCCTGAGTG 0.527 NA 51 107 0 0 0 0 IFRD1 3475 broad.mit.edu 37 7 112097034 112097034 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:112097034A>G uc003vgh.2 + 5 793 c.350A>G c.(349-351)GAA>GGA p.E117G IFRD1_uc011kmn.1_Missense_Mutation_p.E67G|IFRD1_uc003vgi.2_Missense_Mutation_p.E117G|IFRD1_uc003vgj.2_Missense_Mutation_p.E117G|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.E67G NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 117 multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 ATGCTGTATGAATTTATTCTG 0.368 NA 26 40 0 0 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518193 113518193 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:113518193G>T uc010ljy.1 - 4 2985 c.2954C>A c.(2953-2955)TCA>TAA p.S985* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 985 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TCTACTACCTGATGTCACTAT 0.368 NA 12 90 1.09e-07 1.31e-07 1 0 RNF133 168433 broad.mit.edu 37 7 122338457 122338457 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:122338457G>A uc003vkj.1 - 1 752 c.516C>T c.(514-516)CTC>CTT p.L172L CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 172 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 CGGCTGTAATGAGAACTCCCT 0.398 NA 51 96 0 0 0 0 RNF133 168433 broad.mit.edu 37 7 122338764 122338764 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:122338764C>A uc003vkj.1 - 1 445 c.209G>T c.(208-210)AGA>ATA p.R70I CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 70 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TCCTGCCACTCTCTTCAAAGT 0.433 NA 63 78 2.45e-20 3.54e-20 1 0 NDUFA5 4698 broad.mit.edu 37 7 123197486 123197486 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:123197486C>G uc003vks.2 - 2 147 c.38G>C c.(37-39)GGA>GCA p.G13A NDUFA5_uc003vkr.2_RNA|NDUFA5_uc003vkt.1_Missense_Mutation_p.G13A NM_005000 NP_004991 Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 13 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) CACAGCCAATCCCACAAGGCC 0.423 NA 5 54 0 0 0 0 GCC1 79571 broad.mit.edu 37 7 127224972 127224972 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:127224972T>A uc003vma.2 - 1 683 c.265A>T c.(265-267)ACT>TCT p.T89S NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 89 Golgi membrane|plasma membrane protein binding ovary(2) 2 TCGCTGTGAGTGGAGCACCGG 0.597 NA 26 44 0 0 0 0 RAB19 401409 broad.mit.edu 37 7 140125809 140125809 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:140125809C>T uc010lni.2 + 4 711 c.513C>T c.(511-513)GTC>GTT p.V171V RAB19_uc011krc.1_Silent_p.V171V NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 171 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Melanoma(164;0.0142) TAGAAGAAGTCTTCGTGCTCA 0.582 NA 31 92 0 0 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478516 141478516 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:141478516G>A uc003vwq.1 + 1 228 c.228G>A c.(226-228)AGG>AGA p.R76R NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 76 Extracellular (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) ATACGGAAAGGTCAGTCTACC 0.433 NA 65 116 0 0 0 0 PRSS1 5644 broad.mit.edu 37 7 142459743 142459743 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:142459743G>A uc003wak.2 + 3 336 c.319G>A c.(319-321)GAC>AAC p.D107N uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.D47N NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 107 Peptidase S1. Charge relay system. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGAACAATGACATCATGTT 0.552 NA Hereditary_Pancreatitis 11 165 0 0 0 0 OR2F1 26211 broad.mit.edu 37 7 143657597 143657597 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:143657597C>T uc003wds.1 + 1 578 c.534C>T c.(532-534)TCC>TCT p.S178S NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) ATCACATATCCTGTGAACTCC 0.498 NA 36 56 0 0 0 0 ZNF425 155054 broad.mit.edu 37 7 148800930 148800930 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:148800930C>T uc003wfj.2 - 4 2106 c.2033G>A c.(2032-2034)AGG>AAG p.R678K NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 678 C2H2-type 17. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CAAGCTGCCCCTGATGCAGTA 0.547 NA 56 95 0 0 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164299 150164299 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:150164299G>A uc003whj.2 + 2 843 c.513G>A c.(511-513)AAG>AAA p.K171K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 171 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCAACAACAAGACCAATAGTA 0.443 NA 8 142 0 0 0 0 AGAP3 116988 broad.mit.edu 37 7 150784095 150784095 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:150784095G>T uc003wjg.1 + 1 270 c.267G>T c.(265-267)CTG>CTT p.L89L AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Silent_p.L89L|AGAP3_uc010lpy.1_Silent_p.L89L NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 53 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 TCTACGACCTGATCGAGCGCA 0.667 NA 7 12 1.77e-08 2.18e-08 1 0 MLL3 58508 broad.mit.edu 37 7 151877135 151877135 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:151877135T>C uc003wla.2 - 37 7445 c.7226A>G c.(7225-7227)CAG>CGG p.Q2409R MLL3_uc003wkz.2_Missense_Mutation_p.Q1470R|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2409 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGGTGAGTCCTGTGACCCCTT 0.517 NA N medulloblastoma 99 190 0 0 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497720 1497720 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:1497720G>A uc003wpl.2 + 2 958 c.861G>A c.(859-861)AAG>AAA p.K287K DLGAP2_uc003wpm.2_Silent_p.K287K NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 366 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AGTACCTGAAGCGCAGCTCCT 0.642 NA 11 40 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3226842 3226842 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:3226842C>A uc011kwk.1 - 19 3226 c.2836G>T c.(2836-2838)GGG>TGG p.G946W CSMD1_uc011kwj.1_Missense_Mutation_p.G338W|CSMD1_uc003wqe.2_Missense_Mutation_p.G102W NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 946 Extracellular (Potential).|CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTGGAAACCCAGGAGAAAGG 0.393 NA 17 14 6.94e-10 8.8e-10 1 0 XKR6 286046 broad.mit.edu 37 8 10782284 10782284 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:10782284C>T uc003wtk.1 - 2 848 c.821G>A c.(820-822)CGA>CAA p.R274Q NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 274 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GTAGAAGCGTCGCTGGTGTTC 0.582 NA 7 117 0 0 0 0 SGCZ 137868 broad.mit.edu 37 8 13959908 13959909 + Missense_Mutation DNP GG GG TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:13959908_13959909GG>TT uc003wwq.2 - 7 1380_1381 c.720_721CC>AA c.(718-723)CTCCAT>CTAAAT p.H241N SGCZ_uc010lss.2_Missense_Mutation_p.H194N NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 228 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GATTGCAGATGGAGCTCCTTCC 0.515 NA 24 63 0 0 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243466 23243466 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:23243466T>G uc011kzu.1 - 13 1963 c.1691A>C c.(1690-1692)CAC>CCC p.H564P LOXL2_uc003xdh.1_Intron NM_001128930 NP_001122402 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 Error:Variant_position_missing_in_Q9Y227_after_alignment UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) acattgcaagtgtttggtggc 0.015 NA 35 92 0 0 0 0 ADRA1A 148 broad.mit.edu 37 8 26721992 26721992 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:26721992C>G uc003xfh.1 - 1 931 c.495G>C c.(493-495)TGG>TGC p.W165C ADRA1A_uc003xfc.1_Missense_Mutation_p.W165C|ADRA1A_uc010lul.1_Missense_Mutation_p.W165C|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.W165C|ADRA1A_uc010lum.1_Missense_Mutation_p.W165C|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.W165C NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 165 Helical; Name=4; (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CCGGCTGCCTCCAGCCGAACA 0.637 NA 30 32 0 0 0 0 KIF13B 23303 broad.mit.edu 37 8 29037627 29037627 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:29037627C>T uc003xhh.3 - 8 773 c.714G>A c.(712-714)AAG>AAA p.K238K KIF13B_uc003xhj.2_Silent_p.K135K|KIF13B_uc010lvf.1_Silent_p.K174K NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 238 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CTACCCCAGACTTCACATCGT 0.408 NA 52 135 0 0 0 0 ST18 9705 broad.mit.edu 37 8 53025853 53025853 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:53025853T>G uc003xqz.2 - 21 3205 c.3049A>C c.(3049-3051)ACA>CCA p.T1017P ST18_uc011ldq.1_Missense_Mutation_p.T664P|ST18_uc011ldr.1_Missense_Mutation_p.T982P|ST18_uc011lds.1_Missense_Mutation_p.T922P|ST18_uc003xra.2_Missense_Mutation_p.T1017P NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 1017 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TACATATCTGTGAGTGTATTT 0.433 NA 31 88 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55540739 55540739 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:55540739G>T uc003xsd.1 + 4 4445 c.4297G>T c.(4297-4299)GCA>TCA p.A1433S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1433 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGATGAAAATGCATATACTTC 0.363 NA 26 72 1.43e-11 1.86e-11 1 0 LYN 4067 broad.mit.edu 37 8 56879420 56879420 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:56879420G>T uc003xsk.3 + 9 1219 c.937G>T c.(937-939)GAG>TAG p.E313* LYN_uc003xsl.3_Nonsense_Mutation_p.E292* NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 313 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CACCAGGGAGGAGCCCATTTA 0.512 NA 15 57 1.57e-10 2.02e-10 1 0 NSMAF 8439 broad.mit.edu 37 8 59514633 59514633 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:59514633C>A uc003xtt.2 - 14 1323 c.1109G>T c.(1108-1110)CGG>CTG p.R370L NSMAF_uc011lee.1_Missense_Mutation_p.R401L|NSMAF_uc003xtu.2_Missense_Mutation_p.R370L NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 370 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TCTCTCCAGCCGTTCCTTATT 0.413 NA 39 112 1.75e-18 2.47e-18 1 0 NSMAF 8439 broad.mit.edu 37 8 59548030 59548030 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:59548030G>C uc003xtt.2 - 3 439 c.225C>G c.(223-225)ATC>ATG p.I75M NSMAF_uc011lee.1_Missense_Mutation_p.I106M|NSMAF_uc003xtu.2_Missense_Mutation_p.I75M NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 75 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TATTTACCTTGATGATGGGCT 0.308 NA 12 227 0 0 0 0 ASPH 444 broad.mit.edu 37 8 62415961 62415961 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:62415961G>A uc003xuj.2 - 25 2503 c.2234C>T c.(2233-2235)CCG>CTG p.P745L ASPH_uc011leg.1_Missense_Mutation_p.P716L NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 745 Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TGTCAGTTCCGGATGCCACAC 0.512 NA 4 51 0 0 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493499 65493499 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:65493499G>A uc003xvi.2 + 1 686 c.152G>A c.(151-153)CGG>CAG p.R51Q LOC401463_uc003xvh.2_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CCGCCGCCTCGGGAACGCCCG 0.706 NA 8 5 0 0 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87126074 87126074 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:87126074C>A uc003ydp.1 + 2 336 c.267C>A c.(265-267)TCC>TCA p.S89S NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 89 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 GGAATCATTCCCTGGAGCCCC 0.423 NA 25 121 4.6e-10 5.84e-10 1 0 MMP16 4325 broad.mit.edu 37 8 89128829 89128829 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:89128829G>A uc003yeb.3 - 6 1272 c.990C>T c.(988-990)ACC>ACT p.T330T MMP16_uc003yec.2_Silent_p.T330T NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 330 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 AGGGTCTGCCGGTTGGAGGCC 0.532 NA 78 56 0 0 0 0 RIPK2 8767 broad.mit.edu 37 8 90777691 90777691 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:90777691G>A uc003yee.2 + 3 764 c.450G>A c.(448-450)CAG>CAA p.Q150Q RIPK2_uc003yef.2_Silent_p.Q13Q NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 150 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) TGAAGACTCAGAATATCTTAT 0.313 NA 7 90 0 0 0 0 CALB1 793 broad.mit.edu 37 8 91081386 91081386 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:91081386A>T uc003yel.1 - 4 493 c.311T>A c.(310-312)ATG>AAG p.M104K CALB1_uc011lge.1_Missense_Mutation_p.M47K NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 104 EF-hand 3. nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTATACCTTCATGAATTCCTC 0.378 NA 8 57 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003956 93003956 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:93003956C>T uc003yfd.2 - 6 986 c.902G>A c.(901-903)CGT>CAT p.R301H RUNX1T1_uc003yfc.1_Missense_Mutation_p.R274H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R264H|RUNX1T1_uc010mao.2_Missense_Mutation_p.R274H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R312H|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R264H NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 301 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) ATCATCCAAACGGTAATGCTG 0.552 NA 20 124 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 93027017 93027017 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:93027017G>A uc003yfd.2 - 3 342 c.258C>T c.(256-258)GCC>GCT p.A86A RUNX1T1_uc003yfc.1_Silent_p.A59A|RUNX1T1_uc003yfe.1_Silent_p.A49A|RUNX1T1_uc010mao.2_Silent_p.A59A|RUNX1T1_uc011lgi.1_Silent_p.A97A|RUNX1T1_uc003yfh.1_Silent_p.A49A|RUNX1T1_uc003yfb.1_Silent_p.A49A|RUNX1T1_uc003yff.1_Silent_p.A49A|RUNX1T1_uc003yfg.1_Silent_p.A49A NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 86 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CGCCATTCAAGGCTGTAGGAG 0.512 NA 8 51 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139149455 139149455 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:139149455C>G uc003yuy.2 - 19 4121 c.3950G>C c.(3949-3951)CGT>CCT p.R1317P FAM135B_uc003yux.2_Missense_Mutation_p.R1218P|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1317 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGCACATAACGGTCTTGGGG 0.413 NA HNSCC(54;0.14) 24 117 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139603718 139603718 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:139603718C>T uc003yvd.2 - 64 5089 c.4642G>A c.(4642-4644)GGT>AGT p.G1548S COL22A1_uc011ljo.1_Missense_Mutation_p.G828S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1548 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGTGCACCTGGGTCACCT 0.602 NA HNSCC(7;0.00092) 3 19 0 0 0 0 FLJ43860 389690 broad.mit.edu 37 8 142486153 142486153 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:142486153C>G uc003ywi.2 - 13 1621 c.1540G>C c.(1540-1542)GAG>CAG p.E514Q FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 514 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GTGTGCTTCTCCAGGGCATCC 0.642 NA 6 19 0 0 0 0 RPL8 6132 broad.mit.edu 37 8 146017246 146017246 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:146017246C>A uc003zeb.2 - 3 303 c.192G>T c.(190-192)CGG>CGT p.R64R RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Intron|RPL8_uc003zec.2_Silent_p.R64R|RPL8_uc010mgc.2_Silent_p.R64R NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 64 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) GATACGGATCCCGGAAGACCA 0.657 NA 33 171 3.28e-08 4.02e-08 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971035 21971035 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:21971035T>A uc003zpk.2 - 2 535 c.323A>T c.(322-324)GAT>GTT p.D108V MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R163R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCCCAGGCATCGCGCACGTC 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 23 4 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32633172 32633172 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:32633172G>A uc003zrg.1 - 1 2496 c.2406C>T c.(2404-2406)GGC>GGT p.G802G uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 802 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GACACTGCTGGCCAACCACAA 0.423 NA 53 112 0 0 0 0 FOXB2 442425 broad.mit.edu 37 9 79634859 79634859 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:79634859T>A uc004ako.1 + 1 289 c.289T>A c.(289-291)TTC>ATC p.F97I NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 97 Fork-head. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA 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 CGGGGACATGTTCGAGAACGG 0.652 NA 26 35 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84609214 84609214 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:84609214T>A uc004amn.2 + 4 3876 c.3829T>A c.(3829-3831)TGT>AGT p.C1277S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1277 integral to membrane 0 GGTCCCTACCTGTGTCTTACA 0.552 NA 38 46 0 0 0 0 TBC1D2 55357 broad.mit.edu 37 9 101017708 101017708 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:101017708C>G uc011lvb.1 - 1 296 c.116G>C c.(115-117)CGG>CCG p.R39P TBC1D2_uc004ayq.2_Missense_Mutation_p.R39P|TBC1D2_uc004ayr.2_5'UTR|TBC1D2_uc004ayo.3_Missense_Mutation_p.R39P NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 39 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CTCCAGGGACCGGGCGCAGTC 0.637 NA 14 30 0 0 0 0 COL15A1 1306 broad.mit.edu 37 9 101749627 101749627 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:101749627C>A uc004azb.1 + 4 906 c.700C>A c.(700-702)CTG>ATG p.L234M NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 234 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TCCCGAGGAGCTGTGTGACCC 0.642 NA 21 160 1.56e-14 2.12e-14 1 0 KIF12 113220 broad.mit.edu 37 9 116858353 116858353 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:116858353G>C uc004bif.2 - 6 697 c.459C>G c.(457-459)ATC>ATG p.I153M KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 286 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GGCTTCGGTTGATGCTGTTAG 0.617 NA 39 68 0 0 0 0 TLR4 7099 broad.mit.edu 37 9 120476132 120476132 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:120476132C>A uc004bjz.2 + 3 2017 c.1726C>A c.(1726-1728)CTT>ATT p.L576I TLR4_uc004bka.2_Missense_Mutation_p.L536I|TLR4_uc004bkb.2_Missense_Mutation_p.L376I NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 576 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTTCTTAAATCTTACTCAGAA 0.413 NA 17 34 0.000422831 0.0004635 1 0 SPTAN1 6709 broad.mit.edu 37 9 131331097 131331097 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:131331097A>T uc004bvl.3 + 3 397 c.284A>T c.(283-285)AAC>ATC p.N95I SPTAN1_uc011mbg.1_Missense_Mutation_p.N95I|SPTAN1_uc011mbh.1_Missense_Mutation_p.N107I|SPTAN1_uc004bvm.3_Missense_Mutation_p.N95I|SPTAN1_uc004bvn.3_Missense_Mutation_p.N95I NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 95 Spectrin 2. 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 GTGCAGGCCAACTCAGGAGCC 0.488 NA 54 9 0 0 0 0 RXRA 6256 broad.mit.edu 37 9 137293648 137293648 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:137293648G>T uc004cfb.2 + 2 361 c.199G>T c.(199-201)GTC>TTC p.V67F RXRA_uc004cfa.1_Missense_Mutation_p.G117V NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 67 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCCTTTCTCGGTCATCAGCTC 0.647 NA 124 40 4.57e-79 7.18e-79 1 0 OLFM1 10439 broad.mit.edu 37 9 137998625 137998625 + Missense_Mutation SNP C C A rs146984036 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:137998625C>A uc010nar.2 + 5 1023 c.707C>A c.(706-708)CCC>CAC p.P236H OLFM1_uc004cfl.3_Missense_Mutation_p.P218H|OLFM1_uc004cfn.3_5'UTR NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 236 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding p.P218L(1) ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) ATCAGTGACCCCGTGACTGTC 0.527 NA 15 10 3.41e-10 4.34e-10 1 0 SNAPC4 6621 broad.mit.edu 37 9 139282935 139282935 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:139282935G>T uc004chh.2 - 10 1093 c.1084C>A c.(1084-1086)CAG>AAG p.Q362K NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 362 Myb-like 2. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGCATCTCCTGCACCAGCTGC 0.622 NA 14 46 9.31e-06 1.07e-05 1 0 MXRA5 25878 broad.mit.edu 37 X 3235181 3235181 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:3235181T>A uc004crg.3 - 6 6698 c.6541A>T c.(6541-6543)AGG>TGG p.R2181W NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2181 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GACGGCAGCCTCCAGAGGATG 0.652 NA 3 8 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821198 5821198 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:5821198G>T uc010ndh.2 - 5 2022 c.1521C>A c.(1519-1521)CTC>CTA p.L507L NLGN4X_uc004crp.2_Silent_p.L527L|NLGN4X_uc004crq.2_Silent_p.L507L|NLGN4X_uc010ndi.2_Silent_p.L544L|NLGN4X_uc004crr.2_Silent_p.L507L|NLGN4X_uc010ndj.2_Silent_p.L507L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 507 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TACAACTGAAGAGCTCGGTGG 0.537 NA 17 53 3.46e-05 3.91e-05 1 0 FAM9B 171483 broad.mit.edu 37 X 8997416 8997416 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:8997416G>A uc011mhu.1 - 5 414 c.325C>T c.(325-327)CTT>TTT p.L109F FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.L149F NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 109 nucleus 0 Hepatocellular(5;0.219) TATTCTTCAAGGACATTTAGC 0.289 NA 4 25 0 0 0 0 SHROOM2 357 broad.mit.edu 37 X 9862691 9862691 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:9862691G>T uc004csu.1 + 4 833 c.743G>T c.(742-744)GGT>GTT p.G248V NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 248 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CCCAGGCAGGGTGGCCGGCAG 0.667 NA 3 13 2.56e-06 3e-06 1 0 FRMPD4 9758 broad.mit.edu 37 X 12632926 12632926 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:12632926G>A uc004cuz.1 + 4 854 c.348G>A c.(346-348)CCG>CCA p.P116P FRMPD4_uc011mij.1_Silent_p.P108P NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 116 PDZ. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGCTGATCCCGGGAGATCAGA 0.517 NA 21 73 0 0 0 0 TLR7 51284 broad.mit.edu 37 X 12905663 12905663 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:12905663A>G uc004cvc.2 + 3 2175 c.2036A>G c.(2035-2037)AAT>AGT p.N679S NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 679 Extracellular (Potential).|LRR 23. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) AATCTAAAGAATCTCTCTTTG 0.393 NA 40 131 0 0 0 0 BMX 660 broad.mit.edu 37 X 15543445 15543445 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:15543445C>G uc004cww.2 + 8 975 c.787C>G c.(787-789)CAA>GAA p.Q263E BMX_uc004cwx.3_Missense_Mutation_p.Q263E|BMX_uc004cwy.3_Missense_Mutation_p.Q263E NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 263 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) AAGCAGTAACCAAAAAGAAAG 0.313 NA 15 68 0 0 0 0 CDKL5 6792 broad.mit.edu 37 X 18622489 18622489 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:18622489A>G uc004cym.2 + 12 1698 c.1445A>G c.(1444-1446)TAC>TGC p.Y482C CDKL5_uc004cyn.2_Missense_Mutation_p.Y482C NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 482 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) AGTCCCTCCTACAGGACCAAG 0.532 NA 21 114 0 0 0 0 ACOT9 23597 broad.mit.edu 37 X 23723192 23723192 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:23723192G>A uc004dap.2 - 13 1144 c.998C>T c.(997-999)TCT>TTT p.S333F ACOT9_uc004dan.2_Missense_Mutation_p.S83F|ACOT9_uc004dao.2_Missense_Mutation_p.S342F|ACOT9_uc004daq.2_Missense_Mutation_p.S291F|ACOT9_uc004dar.2_Missense_Mutation_p.S273F|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.S273F NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 333 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 AAACGGTCGAGAACCACTGTT 0.408 NA 46 68 0 0 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260834 30260834 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:30260834C>A uc004dcb.2 + 1 666 c.582C>A c.(580-582)ACC>ACA p.T194T MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 194 MAGE. ovary(1) 1 GTGCCTGGACCCTTCCAAGGA 0.522 NA 16 17 0.00316338 0.00337111 1 0 NR0B1 190 broad.mit.edu 37 X 30326619 30326619 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:30326619G>T uc004dcf.3 - 1 877 c.862C>A c.(862-864)CGC>AGC p.R288S NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 288 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CAGCAGTTGCGCACCAGCACC 0.632 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 2.56e-06 3e-06 1 0 NR0B1 190 broad.mit.edu 37 X 30327199 30327199 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:30327199C>T uc004dcf.3 - 1 297 c.282G>A c.(280-282)CCG>CCA p.P94P NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 94 4 X 67 AA tandem repeats.|2. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CGGGCGCCTTCGGTGCCGCGT 0.687 NA 16 18 0 0 0 0 CXorf59 286464 broad.mit.edu 37 X 36122647 36122647 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:36122647G>T uc004ddk.1 + 8 1070 c.884G>T c.(883-885)TGC>TTC p.C295F NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 295 integral to membrane central_nervous_system(1) 1 GTGCCATACTGCAGCAATAAT 0.343 NA 23 92 6.07e-21 8.83e-21 1 0 CXorf38 159013 broad.mit.edu 37 X 40498350 40498350 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:40498350G>T uc004dew.2 - 3 387 c.382C>A c.(382-384)CAA>AAA p.Q128K CXorf38_uc011mko.1_Intron|CXorf38_uc004dev.1_Missense_Mutation_p.Q9K|CXorf38_uc010nhd.2_RNA NM_144970 NP_659407 Q8TB03 CX038_HUMAN hypothetical protein LOC159013 128 ovary(1) 1 TCAGGTCCTTGTTTGTCTGCT 0.498 NA 13 75 6.72e-11 8.67e-11 1 0 ZNF157 7712 broad.mit.edu 37 X 47272966 47272966 + Silent SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:47272966T>G uc004dhr.1 + 4 1563 c.1494T>G c.(1492-1494)CGT>CGG p.R498R NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 498 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGTCCTGGCGTTGTACAATGA 0.502 NA 20 79 0 0 0 0 PORCN 64840 broad.mit.edu 37 X 48370283 48370283 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48370283G>A uc010nie.1 + 4 491 c.333G>A c.(331-333)GAG>GAA p.E111E PORCN_uc004djq.1_Silent_p.E224E|PORCN_uc004djr.1_Silent_p.E111E|PORCN_uc004djs.1_Silent_p.E111E|PORCN_uc004djt.1_Silent_p.E40E|PORCN_uc011mlx.1_Silent_p.E40E|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Silent_p.E111E|PORCN_uc004djw.1_Silent_p.E111E NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 111 Helical; (Potential). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 TCCTCAGTGAGATGCACATGG 0.597 NA OREG0019764 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 61 0 0 0 0 HDAC6 10013 broad.mit.edu 37 X 48678561 48678561 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48678561G>T uc011mmi.1 + 23 2331 c.2236G>T c.(2236-2238)GGG>TGG p.G746W HDAC6_uc004dks.1_Missense_Mutation_p.G746W|HDAC6_uc010nig.1_Missense_Mutation_p.G594W|HDAC6_uc004dkt.1_Missense_Mutation_p.G746W|HDAC6_uc011mmk.1_Missense_Mutation_p.G727W|HDAC6_uc004dkv.1_Missense_Mutation_p.G394W|HDAC6_uc004dkw.1_Missense_Mutation_p.G394W|HDAC6_uc004dkx.1_Missense_Mutation_p.G109W NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 746 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) TGCTGCACGGGGGGATCCGCT 0.572 NA 15 74 1.15e-07 1.38e-07 1 0 HDAC6 10013 broad.mit.edu 37 X 48681696 48681696 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48681696G>C uc011mmi.1 + 25 2982 c.2887G>C c.(2887-2889)GAC>CAC p.D963H HDAC6_uc004dks.1_Missense_Mutation_p.D963H|HDAC6_uc010nig.1_Missense_Mutation_p.D811H|HDAC6_uc004dkt.1_Missense_Mutation_p.D963H|HDAC6_uc011mmk.1_Missense_Mutation_p.D944H|HDAC6_uc004dkv.1_Missense_Mutation_p.D611H|HDAC6_uc004dkw.1_Missense_Mutation_p.D611H|HDAC6_uc004dkx.1_Missense_Mutation_p.D326H NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 963 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) AGCCATTCTGGACCAGACCAC 0.647 NA 3 14 0 0 0 0 SLC35A2 7355 broad.mit.edu 37 X 48762559 48762559 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48762559G>A uc004dlo.1 - 4 631 c.627C>T c.(625-627)TCC>TCT p.S209S SLC35A2_uc011mml.1_Silent_p.S222S|SLC35A2_uc004dlp.1_Silent_p.S209S|SLC35A2_uc011mmm.1_Silent_p.S237S|SLC35A2_uc011mmn.1_Silent_p.S148S|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 209 Helical; (Potential). galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 AGGAGAGACAGGAGGCCACGA 0.647 NA 9 7 0 0 0 0 GPKOW 27238 broad.mit.edu 37 X 48979050 48979051 + Silent DNP GG GG TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48979050_48979051GG>TT uc004dmr.2 - 2 259_260 c.252_253CC>AA c.(250-255)GCCCGG>GCAAGG p.84_85AR>AR NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 84_85 nucleus nucleic acid binding ovary(2) 2 CCAGGGGGCCGGGCTGGTGGCT 0.629 NA 12 23 0 0 0 0 CCDC22 28952 broad.mit.edu 37 X 49099871 49099871 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49099871C>T uc004dnd.1 + 6 813 c.657C>T c.(655-657)GGC>GGT p.G219G CCDC22_uc011mna.1_Silent_p.G219G|CCDC22_uc004dnc.1_RNA NM_014008 NP_054727 O60826 CCD22_HUMAN coiled-coil domain containing 22 219 central_nervous_system(1) 1 AGCAGACGGGCCGGGACCGGC 0.682 NA 7 13 0 0 0 0 GAGE10 643832 broad.mit.edu 37 X 49173663 49173663 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49173663G>C uc010nir.1 + 4 340 c.224G>C c.(223-225)AGC>ACC p.S75T GAGE10_uc010nis.2_RNA NM_001098413 NP_001091883 A6NGK3 GAG10_HUMAN G antigen 10 75 0 Ovarian(276;0.236) GAAGCTGATAGCCAGGAACAG 0.423 NA 68 152 0 0 0 0 AKAP4 8852 broad.mit.edu 37 X 49958928 49958928 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49958928C>A uc004dow.1 - 5 560 c.436G>T c.(436-438)GAA>TAA p.E146* AKAP4_uc004dov.1_Nonsense_Mutation_p.E137*|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Nonsense_Mutation_p.E137* NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 146 E -> D (in Ref. 2; AAC79433). 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) CTGTGATATTCGCCCTCTGTG 0.448 NA 55 46 5.39e-20 7.79e-20 1 0 IQSEC2 23096 broad.mit.edu 37 X 53276218 53276218 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53276218G>A uc004dsd.2 - 8 2883 c.2682C>T c.(2680-2682)GAC>GAT p.D894D IQSEC2_uc004dsc.2_Silent_p.D689D NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 884 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 GACTGTACATGTCGGTATTGA 0.517 NA 9 46 0 0 0 0 RIBC1 158787 broad.mit.edu 37 X 53455483 53455483 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53455483C>G uc004dsk.2 + 5 605 c.452C>G c.(451-453)ACA>AGA p.T151R RIBC1_uc004dsj.1_Missense_Mutation_p.T151R|RIBC1_uc011mog.1_Intron NM_001031745 NP_001026915 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 isoform 1 151 0 GACAGGGACACACGGCTGAGA 0.507 NA 14 18 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53658553 53658553 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53658553G>C uc004dsp.2 - 10 1061 c.659C>G c.(658-660)ACA>AGA p.T220R NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 220 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ATAATGTAGTGTGTTACTAGT 0.378 NA 18 63 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63413127 63413127 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:63413127C>T uc004dvo.2 - 2 313 c.40G>A c.(40-42)GCT>ACT p.A14T NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 14 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GAGGCTGCAGCTCCCTTGGCC 0.557 NA 20 88 0 0 0 0 MSN 4478 broad.mit.edu 37 X 64957172 64957172 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:64957172G>T uc004dwf.2 + 10 1421 c.1223G>T c.(1222-1224)CGG>CTG p.R408L NM_002444 NP_002435 P26038 MOES_HUMAN moesin 408 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 CAGGCCTCCCGGGACCAGAAA 0.542 NA T ALK ALCL 5 13 1.24e-05 1.41e-05 1 0 ATRX 546 broad.mit.edu 37 X 76939151 76939151 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:76939151C>G uc004ecp.3 - 9 1829 c.1597G>C c.(1597-1599)GAG>CAG p.E533Q ATRX_uc004ecq.3_Missense_Mutation_p.E495Q|ATRX_uc004eco.3_Missense_Mutation_p.E318Q|ATRX_uc004ecr.2_Missense_Mutation_p.E494Q|ATRX_uc010nlx.1_Missense_Mutation_p.E533Q|ATRX_uc010nly.1_Missense_Mutation_p.E478Q NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 533 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) ATAGCAGTCTCAAGATTCTCA 0.393 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 159 124 0 0 0 0 KLHL4 56062 broad.mit.edu 37 X 86919890 86919890 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:86919890G>A uc004efb.2 + 10 2234 c.2052G>A c.(2050-2052)TTG>TTA p.L684L KLHL4_uc004efa.2_Silent_p.L684L NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 684 Kelch 6. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ATACTTATTTGAACACAGTTG 0.383 NA 23 18 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133291 91133292 + Missense_Mutation DNP GG GG TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:91133291_91133292GG>TT uc004efk.1 + 2 2897_2898 c.2052_2053GG>TT c.(2050-2055)TTGGTT>TTTTTT p.684_685LV>FF PCDH11X_uc004efl.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efo.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc010nmv.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efm.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efn.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efh.1_Missense_Mutation_p.684_685LV>FF|PCDH11X_uc004efj.1_Missense_Mutation_p.684_685LV>FF NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 684_685 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTTATGAATTGGTTCTACCGTC 0.426 NA 73 53 0 0 0 0 TEX13A 56157 broad.mit.edu 37 X 104463830 104463830 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:104463830G>T uc004ema.2 - 5 1158 c.1046C>A c.(1045-1047)CCC>CAC p.P349H IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P350T NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 349 intracellular zinc ion binding ovary(2) 2 TATTCTGTGGGGCCCCCCATC 0.567 NA 46 26 5.34e-22 7.83e-22 1 0 DCX 1641 broad.mit.edu 37 X 110654066 110654066 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:110654066A>G uc004epd.2 - 1 309 c.137T>C c.(136-138)GTT>GCT p.V46A DCX_uc011msv.1_Missense_Mutation_p.V46A|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 46 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 CACATGACTAACAGTTGTAAA 0.428 NA 107 64 0 0 0 0 TRPC5 7224 broad.mit.edu 37 X 111090412 111090412 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:111090412T>A uc004epl.1 - 6 2549 c.1630A>T c.(1630-1632)ACC>TCC p.T544S TRPC5_uc004epm.1_Missense_Mutation_p.T544S NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 544 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 ATAGCTCTGGTTTCATAATAG 0.433 NA 54 36 0 0 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220339 130220339 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:130220339G>T uc004evz.2 + 10 1663 c.1318G>T c.(1318-1320)GTG>TTG p.V440L ARHGAP36_uc004ewa.2_Missense_Mutation_p.V428L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.V409L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.V304L NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 440 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TGCTAAGCGCGTGTGGAAGTC 0.453 NA 27 27 2.08e-15 2.87e-15 1 0 GPR112 139378 broad.mit.edu 37 X 135429618 135429618 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:135429618C>A uc004ezu.1 + 6 4044 c.3753C>A c.(3751-3753)ACC>ACA p.T1251T GPR112_uc010nsb.1_Silent_p.T1046T|GPR112_uc010nsc.1_Silent_p.T1018T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1251 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGACTAGCACCTCTGTCTTAT 0.433 NA 16 123 0.00498961 0.00526838 1 0 GPR112 139378 broad.mit.edu 37 X 135431250 135431250 + Silent SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:135431250T>G uc004ezu.1 + 6 5676 c.5385T>G c.(5383-5385)ACT>ACG p.T1795T GPR112_uc010nsb.1_Silent_p.T1590T|GPR112_uc010nsc.1_Silent_p.T1562T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1795 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTTCTAATACTAGAAAGATGA 0.398 NA 31 111 0 0 0 0 BRS3 680 broad.mit.edu 37 X 135574475 135574475 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:135574475G>A uc004ezv.1 + 3 1290 c.1141G>A c.(1141-1143)GAA>AAA p.E381K NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 381 Cytoplasmic (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ACAGATGTCTGAAATTAGTGT 0.542 NA 13 77 0 0 0 0 RAB39B 116442 broad.mit.edu 37 X 154493403 154493403 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:154493403G>C uc004fne.2 - 1 450 c.171C>G c.(169-171)CGC>CGG p.R57R NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 57 R -> T (in Ref. 1; AAL12244). protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGAGCTTGATGCGTTTTCCTG 0.622 NA 34 24 0 0 0 0 CNST 163882 broad.mit.edu 37 1 246784843 246784844 + Frame_Shift_Ins INS - - GC TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:246784843_246784844insGC uc001ibp.2 + 3 870_871 c.492_493insGC c.(490-495)GAGGCGfs p.E164fs CNST_uc001ibo.3_Frame_Shift_Ins_p.E164fs NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 164_165 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 AGCAGCCAGAGGCGCCAAAGCT 0.441 NA 134 214 --- --- --- --- NA NA NA NA OR2T12 127064 broad.mit.edu 37 1 248458101 248458101 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248458101delG uc010pzj.1 - 1 780 c.780delC c.(778-780)CCCfs p.P260fs NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 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;0.0201) TGTGGGATTTGGGTCTCATAT 0.483 NA 52 96 --- --- --- --- NA NA NA NA NET1 10276 broad.mit.edu 37 10 5498668 5498668 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:5498668delC uc001iia.2 + 12 1640 c.1502delC c.(1501-1503)GCCfs p.A501fs NET1_uc010qar.1_Frame_Shift_Del_p.A320fs|NET1_uc001iib.2_Frame_Shift_Del_p.A447fs|NET1_uc010qas.1_Frame_Shift_Del_p.A320fs NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 501 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 GCGGCCATTGCCCCCTTCCAG 0.602 NA 42 25 --- --- --- --- NA NA NA NA MRGPRX3 117195 broad.mit.edu 37 11 18158862 18158862 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:18158862delC uc001mnu.2 + 3 474 c.113delC c.(112-114)TCCfs p.S38fs NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 38 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TGCATCGTTTCCCTTGTCGCG 0.592 NA 78 164 --- --- --- --- NA NA NA NA MCF2L 23263 broad.mit.edu 37 13 113729415 113729415 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:113729415delG uc001vsu.2 + 11 1413 c.1391delG c.(1390-1392)CGGfs p.R464fs MCF2L_uc001vsq.2_Frame_Shift_Del_p.R464fs|MCF2L_uc010tjr.1_Frame_Shift_Del_p.R407fs|MCF2L_uc001vsr.2_Frame_Shift_Del_p.R411fs|MCF2L_uc001vss.3_Frame_Shift_Del_p.R405fs|MCF2L_uc010tjs.1_Frame_Shift_Del_p.R405fs|MCF2L_uc001vst.1_Frame_Shift_Del_p.R369fs NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 437 Spectrin. 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|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CAGGAGCTCCGGCACCTCTGT 0.667 NA 45 26 --- --- --- --- NA NA NA NA EFS 10278 broad.mit.edu 37 14 23826490 23826491 + Frame_Shift_Del DEL TC TC - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:23826490_23826491delTC uc001wjo.2 - 6 2238_2239 c.1630_1631delGA c.(1630-1632)GAAfs p.E544fs EFS_uc001wjp.2_Frame_Shift_Del_p.E451fs|EFS_uc010tnm.1_Frame_Shift_Del_p.E375fs NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 544 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CCCTGCCAGTTCTGTTACACAC 0.619 NA 26 127 --- --- --- --- NA NA NA NA MYH4 4622 broad.mit.edu 37 17 10351938 10351938 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10351938delG uc002gmn.2 - 32 4639 c.4528delC c.(4528-4530)CAAfs p.Q1510fs uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1510 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GACTCACGTTGTAAGTTCTTA 0.378 NA 44 93 --- --- --- --- NA NA NA NA DPY19L3 147991 broad.mit.edu 37 19 32954307 32954307 + Frame_Shift_Del DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:32954307delA uc002ntg.2 + 13 1534 c.1358delA c.(1357-1359)GAAfs p.E453fs DPY19L3_uc002nth.1_Frame_Shift_Del_p.E453fs|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 453 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) GGTAAAATGGAAAAAGGCACA 0.333 NA 46 60 --- --- --- --- NA NA NA NA SIGLEC14 100049587 broad.mit.edu 37 19 52149112 52149112 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52149112delC uc002pxf.3 - 3 743 c.623delG c.(622-624)GGCfs p.G208fs NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 208 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GAGGTTGGTGCCATGGTCCTC 0.637 NA 35 54 --- --- --- --- NA NA NA NA RAB22A 57403 broad.mit.edu 37 20 56929251 56929254 + Frame_Shift_Del DEL TATT TATT - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:56929251_56929254delTATT uc002xyz.2 + 6 679_682 c.417_420delTATT c.(415-420)TCTATTfs p.S139fs NM_020673 NP_065724 Q9UL26 RB22A_HUMAN RAS-related protein RAB-22A 139_140 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding 0 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) ACGCCGACTCTATTCATGCAATTT 0.402 NA 16 27 --- --- --- --- NA NA NA NA DOPEY2 9980 broad.mit.edu 37 21 37586451 37586452 + Frame_Shift_Ins INS - - T rs147590869 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:37586451_37586452insT uc002yvg.2 + 8 1056_1057 c.977_978insT c.(976-978)TATfs p.Y326fs DOPEY2_uc011aeb.1_Frame_Shift_Ins_p.Y326fs NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 326 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CAGTCGTCTTATTTTTTTGAAA 0.396 NA 13 99 --- --- --- --- NA NA NA NA KRTAP10-9 386676 broad.mit.edu 37 21 46047615 46047615 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:46047615delC uc002zfp.3 + 1 576 c.527delC c.(526-528)TCCfs p.S176fs C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 176 16.|25 X 5 AA repeats of C-C-X(3). keratin filament 0 TGCACTTCCTCCCCCTGCCAG 0.552 NA 97 252 --- --- --- --- NA NA NA NA MICAL3 57553 broad.mit.edu 37 22 18300912 18300912 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:18300912delG uc002zng.3 - 26 4868 c.4515delC c.(4513-4515)CCCfs p.P1505fs MICAL3_uc011agl.1_Frame_Shift_Del_p.P1421fs|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1505 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CCTCCTCTCTGGGGGGCTGAG 0.652 NA 10 10 --- --- --- --- NA NA NA NA TFDP2 7029 broad.mit.edu 37 3 141682777 141682777 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:141682777delC uc003eun.3 - 10 1140 c.761delG c.(760-762)AGAfs p.R254fs TFDP2_uc003euk.3_Frame_Shift_Del_p.R167fs|TFDP2_uc010hur.2_Frame_Shift_Del_p.R194fs|TFDP2_uc003eul.3_Frame_Shift_Del_p.R194fs|TFDP2_uc011bnf.1_Frame_Shift_Del_p.R157fs|TFDP2_uc011bng.1_Frame_Shift_Del_p.R118fs|TFDP2_uc003eum.3_Frame_Shift_Del_p.R194fs NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 254 Dimerization (Potential).|DCB1. cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 TTGTCGATTTCTCTGTACCAG 0.368 NA 47 64 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187629115 187629116 + Frame_Shift_Del DEL CC CC - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:187629115_187629116delCC uc003izf.2 - 2 2054_2055 c.1866_1867delGG c.(1864-1869)GGGGTAfs p.G622fs FAT1_uc010iso.1_Frame_Shift_Del_p.G622fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 622_623 Extracellular (Potential).|Cadherin 5. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AATGACAATACCCCCGAGTTGG 0.426 NA HNSCC(5;0.00058) 29 27 --- --- --- --- NA NA NA NA GPRC6A 222545 broad.mit.edu 37 6 117130668 117130668 + Frame_Shift_Del DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:117130668delA uc003pxj.1 - 2 329 c.307delT c.(307-309)TGTfs p.C103fs GPRC6A_uc003pxk.1_Frame_Shift_Del_p.C103fs|GPRC6A_uc003pxl.1_Frame_Shift_Del_p.C103fs NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 103 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACTTCTGTACAAGTGTCATAG 0.408 NA 13 34 --- --- --- --- NA NA NA NA ZFHX4 79776 broad.mit.edu 37 8 77767550 77767550 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:77767550delC uc003yav.2 + 10 8645 c.8258delC c.(8257-8259)ACCfs p.T2753fs ZFHX4_uc003yau.1_Frame_Shift_Del_p.T2798fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.T2753fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2753 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) CAAAATAAAACCGATTTTGAT 0.438 NA HNSCC(33;0.089) 24 21 --- --- --- --- NA NA NA NA KLHL4 56062 broad.mit.edu 37 X 86890748 86890754 + Frame_Shift_Del DEL GCTCCAG GCTCCAG - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:86890748_86890754delGCTCCAG uc004efb.2 + 9 2080_2086 c.1898_1904delGCTCCAG c.(1897-1905)TGCTCCAGGfs p.C633fs KLHL4_uc004efa.2_Frame_Shift_Del_p.C633fs NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 633_635 Kelch 5. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TCCAACCATTGCTCCAGGCTTTCTGAC 0.382 NA 11 22 --- --- --- --- NA NA NA NA DCX 1641 broad.mit.edu 37 X 110653517 110653517 + Frame_Shift_Del DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:110653517delA uc004epd.2 - 2 525 c.353delT c.(352-354)TTCfs p.F118fs DCX_uc011msv.1_Frame_Shift_Del_p.F118fs|DCX_uc004epe.2_Frame_Shift_Del_p.F37fs|DCX_uc004epf.2_Frame_Shift_Del_p.F37fs|DCX_uc004epg.2_Frame_Shift_Del_p.F37fs NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 118 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GGTTCGGTAGAAGCTACAGTG 0.512 NA 55 47 --- --- --- --- NA NA NA NA