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 PGD 5226 broad.mit.edu 37 1 10460553 10460553 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:10460553C>G uc001arc.2 + 3 278 c.188C>G c.(187-189)TCC>TGC p.S63C PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.S63C|PGD_uc010oal.1_Missense_Mutation_p.S50C NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 63 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GAGATGGTCTCCAAGCTGAAG 0.517000 FAF1 11124 broad.mit.edu 37 1 51171554 51171554 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:51171554C>G uc009vyx.1 - 8 624 c.561G>C c.(559-561)CAG>CAC p.Q187H FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.Q187H NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 187 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TTAATGACTCCTGCAGGGCAC 0.453000 HOOK1 51361 broad.mit.edu 37 1 60331609 60331609 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:60331609G>A uc009wad.2 + 20 1912 c.1810G>A c.(1810-1812)GAA>AAA p.E604K HOOK1_uc001czo.2_Missense_Mutation_p.E604K|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E562K NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 604 Potential. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) AGCAATGGAGGAAAGATATAA 0.348000 PDE4B 5142 broad.mit.edu 37 1 66833513 66833513 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:66833513A>G uc001dcn.2 + 14 1710 c.1519A>G c.(1519-1521)AGG>GGG p.R507G PDE4B_uc009war.2_Missense_Mutation_p.R415G|PDE4B_uc001dco.2_Missense_Mutation_p.R507G|PDE4B_uc001dcp.2_Missense_Mutation_p.R492G|PDE4B_uc001dcq.2_Missense_Mutation_p.R335G|PDE4B_uc009was.2_Missense_Mutation_p.R274G NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 507 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TCAGACACTCAGGAAGATGGT 0.403000 CLCA4 22802 broad.mit.edu 37 1 87029424 87029424 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:87029424G>A uc009wcs.2 + 4 573 c.529G>A c.(529-531)GCT>ACT p.A177T CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 177 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTTCTACCGTGCTAAGTCAAA 0.398000 GBP6 163351 broad.mit.edu 37 1 89843764 89843764 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:89843764C>A uc001dnf.2 + 4 695 c.421C>A c.(421-423)CAG>AAG p.Q141K GBP6_uc010ost.1_Missense_Mutation_p.Q11K NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 141 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GGCCCTGGAGCAGCTGCAGTA 0.483000 SORT1 6272 broad.mit.edu 37 1 109870198 109870198 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:109870198T>C uc001dxm.1 - 12 1446 c.1397A>G c.(1396-1398)TAC>TGC p.Y466C SORT1_uc010ovi.1_Missense_Mutation_p.Y329C NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 466 Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GGAGATGCTGTAGGAAGCATG 0.428000 PTPN22 26191 broad.mit.edu 37 1 114357554 114357555 + Missense_Mutation DNP CC CC AA TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:114357554_114357555CC>AA uc001eds.2 - 21 2526_2527 c.2396_2397GG>TT c.(2395-2397)AGG>ATT p.R799I RSBN1_uc001edq.2_5'Flank|RSBN1_uc001edr.2_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.R744I|PTPN22_uc010owo.1_Missense_Mutation_p.R555I|PTPN22_uc001edt.2_3'UTR NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 799 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGTGGATTCCTTGGTCCTTT 0.322000 HORMAD1 84072 broad.mit.edu 37 1 150680760 150680760 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:150680760C>T uc001evk.1 - 9 625 c.519G>A c.(517-519)TTG>TTA p.L173L HORMAD1_uc001evl.1_Silent_p.L166L|HORMAD1_uc001evm.1_Silent_p.L93L NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 173 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GTTTCATGGTCAAACAAACAT 0.343000 BNIPL 149428 broad.mit.edu 37 1 151010070 151010070 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:151010070A>G uc001ewl.2 + 2 242 c.69A>G c.(67-69)GAA>GAG p.E23E BNIPL_uc009wmi.2_5'UTR|BNIPL_uc009wmj.2_5'Flank NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 23 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|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) AAGCACCAGAACTAGGAGCAG 0.498000 CELF3 11189 broad.mit.edu 37 1 151680269 151680269 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:151680269G>T uc001eys.1 - 6 1423 c.629C>A c.(628-630)GCC>GAC p.A210D CELF3_uc010pdh.1_Missense_Mutation_p.A18D|CELF3_uc001eyr.2_Missense_Mutation_p.A209D|CELF3_uc009wmy.2_Missense_Mutation_p.A210D|CELF3_uc009wmx.1_Missense_Mutation_p.A210D|CELF3_uc001eyt.2_Missense_Mutation_p.A133D|C1orf230_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 210 nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 AGTGCTCACGGCCTGGGTGTA 0.687000 TDRD10 126668 broad.mit.edu 37 1 154493818 154493818 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:154493818G>A uc009wow.2 + 6 1070 c.232G>A c.(232-234)GGC>AGC p.G78S TDRD10_uc001ffd.2_Missense_Mutation_p.G78S|TDRD10_uc001ffe.2_5'UTR NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 78 RRM. nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGTAGATCTGGGCTCCATGCA 0.512000 ASH1L 55870 broad.mit.edu 37 1 155450973 155450973 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:155450973G>C uc009wqq.2 - 3 2168 c.1688C>G c.(1687-1689)TCT>TGT p.S563C ASH1L_uc001fkt.2_Missense_Mutation_p.S563C|ASH1L_uc009wqr.1_Missense_Mutation_p.S563C NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 563 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGGATTAACAGATACAGTAGG 0.418000 IQGAP3 128239 broad.mit.edu 37 1 156517991 156517991 + Silent SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:156517991G>C uc001fpf.2 - 19 2253 c.2178C>G c.(2176-2178)CTC>CTG p.L726L NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 726 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGCTTTCCAGAGCTGTTGGC 0.572000 BCAN 63827 broad.mit.edu 37 1 156618415 156618415 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:156618415G>A uc001fpp.2 + 6 1161 c.825G>A c.(823-825)GCG>GCA p.A275A BCAN_uc001fpo.2_Silent_p.A275A NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 275 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AAGCACGGGCGTACTGCCAGG 0.498000 OR6K2 81448 broad.mit.edu 37 1 158670388 158670388 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:158670388A>G uc001fsu.1 - 1 55 c.55T>C c.(55-57)TAT>CAT p.Y19H NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) ACCCAGGAATAAGGGAAAGCG 0.448000 SLAMF6 114836 broad.mit.edu 37 1 160461007 160461007 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:160461007G>T uc001fwe.1 - 3 614 c.554C>A c.(553-555)CCC>CAC p.P185H SLAMF6_uc001fwd.1_Missense_Mutation_p.P185H|SLAMF6_uc010pjh.1_Missense_Mutation_p.P136H|SLAMF6_uc010pji.1_Missense_Mutation_p.P74H|SLAMF6_uc010pjj.1_Missense_Mutation_p.P74H|SLAMF6_uc009wtm.1_Missense_Mutation_p.P136H NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 185 Extracellular (Potential).|Ig-like. integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GGAAATCCTGGGGTCCCAGGA 0.493000 GPA33 10223 broad.mit.edu 37 1 167042757 167042757 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:167042757G>A uc001gea.1 - 2 407 c.63C>T c.(61-63)GCC>GCT p.A21A NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 21 integral to plasma membrane receptor activity 0 CCACAGAGATGGCATCGACGG 0.572000 F5 2153 broad.mit.edu 37 1 169511446 169511446 + Missense_Mutation SNP T T G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:169511446T>G uc001ggg.1 - 13 3027 c.2882A>C c.(2881-2883)GAT>GCT p.D961A NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 961 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTCATCAGTATCTTGGATTAT 0.443000 RC3H1 149041 broad.mit.edu 37 1 173939714 173939714 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:173939714A>G uc001gju.3 - 8 1350 c.1263T>C c.(1261-1263)GAT>GAC p.D421D RC3H1_uc010pms.1_Silent_p.D421D|RC3H1_uc001gjv.2_Silent_p.D421D|RC3H1_uc010pmt.1_Silent_p.D421D NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 421 C3H1-type. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TCTGCTTCATATCTCGACACA 0.413000 IKBKE 9641 broad.mit.edu 37 1 206665007 206665007 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:206665007G>T uc001hdz.1 + 18 2128 c.1760G>T c.(1759-1761)AGA>ATA p.R587I IKBKE_uc009xbv.1_Missense_Mutation_p.R587I|IKBKE_uc001hea.1_Missense_Mutation_p.R502I NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 587 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) TTAGCCAAAAGACTCCTGCAG 0.532000 OBSCN 84033 broad.mit.edu 37 1 228404967 228404967 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:228404967G>A uc009xez.1 + 8 2675 c.2631G>A c.(2629-2631)GTG>GTA p.V877V OBSCN_uc001hsn.2_Silent_p.V877V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 877 Ig-like 8. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGACTCTGTGGACTTCCGGC 0.667000 MTR 4548 broad.mit.edu 37 1 237060413 237060413 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr1:237060413G>C uc001hyi.3 + 32 4129 c.3706G>C c.(3706-3708)GAT>CAT p.D1236H MTR_uc010pxw.1_Missense_Mutation_p.D829H|MTR_uc010pxx.1_Missense_Mutation_p.D1185H|MTR_uc010pxy.1_Missense_Mutation_p.D1090H NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1236 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GATTTCCAAGGATCAGGTAAG 0.403000 GDI2 2665 broad.mit.edu 37 10 5827827 5827827 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:5827827T>C uc001iil.3 - 5 866 c.575A>G c.(574-576)TAC>TGC p.Y192C GDI2_uc001iim.3_Missense_Mutation_p.Y147C|GDI2_uc009xid.2_Missense_Mutation_p.Y196C NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 192 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 ATCAGTTCTGTAAAGTGCAAG 0.333000 STAM 8027 broad.mit.edu 37 10 17730117 17730117 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:17730117C>T uc001ipj.1 + 5 605 c.389C>T c.(388-390)GCA>GTA p.A130V STAM_uc010qcf.1_Missense_Mutation_p.A19V NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 130 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 CTAATATCAGCAATGATTAAG 0.368000 CHAT 1103 broad.mit.edu 37 10 50857654 50857654 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:50857654T>C uc001jhz.2 + 10 1636 c.1483T>C c.(1483-1485)TTA>CTA p.L495L CHAT_uc001jhv.1_Silent_p.L377L|CHAT_uc001jhx.1_Silent_p.L377L|CHAT_uc001jhy.1_Silent_p.L377L|CHAT_uc001jia.2_Silent_p.L377L|CHAT_uc010qgs.1_Silent_p.L377L NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 495 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) TCAAGGCCACTTAGCCTCCTC 0.612000 UNC5B 219699 broad.mit.edu 37 10 73050856 73050856 + Silent SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:73050856G>C uc001jro.2 + 9 1729 c.1284G>C c.(1282-1284)ACG>ACC p.T428T UNC5B_uc001jrp.2_Silent_p.T417T NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 428 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 ACTTTAAGACGGCAAGGCCCA 0.597000 LDB3 11155 broad.mit.edu 37 10 88478537 88478537 + Silent SNP G G A rs150710377 byFrequency TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:88478537G>A uc001kdv.2 + 11 1934 c.1911G>A c.(1909-1911)GCG>GCA p.A637A LDB3_uc010qmm.1_Silent_p.A642A|LDB3_uc001kdu.2_Silent_p.A527A|LDB3_uc009xsz.2_Silent_p.A266A|LDB3_uc009xta.1_Silent_p.A16A NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 637 LIM zinc-binding 2. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 TCGTCTGTGCGGCCTGCAAGA 0.572000 BTAF1 9044 broad.mit.edu 37 10 93784681 93784681 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:93784681G>A uc001khr.2 + 35 5130 c.5032G>A c.(5032-5034)GAT>AAT p.D1678N NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1678 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TTTGAGATTAGATGGCAGCAT 0.393000 SORCS3 22986 broad.mit.edu 37 10 107005353 107005353 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr10:107005353C>T uc001kyi.1 + 21 3149 c.2922C>T c.(2920-2922)ACC>ACT p.T974T SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 974 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGAAGGAACCGACACCATCA 0.463000 EHF 26298 broad.mit.edu 37 11 34668128 34668128 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr11:34668128C>G uc001mvr.1 + 3 351 c.240C>G c.(238-240)ATC>ATG p.I80M EHF_uc009yke.1_Missense_Mutation_p.I80M|EHF_uc009ykf.1_Missense_Mutation_p.I83M NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 80 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) AGTTCGACATCAACGGCGAGC 0.582000 ACCS 84680 broad.mit.edu 37 11 44105268 44105268 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr11:44105268C>A uc009yks.1 + 15 1576 c.1432C>A c.(1432-1434)CTT>ATT p.L478I EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.L478I NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 478 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 CCAGCAGGTGCTTGCAGGCAA 0.617000 OR4S2 219431 broad.mit.edu 37 11 55419242 55419242 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr11:55419242G>T uc001nhs.1 + 1 863 c.863G>T c.(862-864)AGA>ATA p.R288I NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 288 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TATACACTGAGAAATGCAGAA 0.378000 SCN3B 55800 broad.mit.edu 37 11 123508896 123508896 + Silent SNP G G A rs34964168 byFrequency TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr11:123508896G>A uc001pza.1 - 5 989 c.582C>T c.(580-582)AAC>AAT p.N194N SCN3B_uc001pzb.1_Silent_p.N194N NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 194 Cytoplasmic (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) GGACTTACGCGTTTTCTTGGG 0.294000 OPCML 4978 broad.mit.edu 37 11 132527132 132527132 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr11:132527132T>C uc001qgs.2 - 2 300 c.250A>G c.(250-252)ATA>GTA p.I84V OPCML_uc001qgu.2_Missense_Mutation_p.I77V|OPCML_uc010sck.1_Missense_Mutation_p.I84V|OPCML_uc001qgt.2_Missense_Mutation_p.I84V|OPCML_uc010scl.1_Missense_Mutation_p.I43V NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 84 Ig-like C2-type 1. 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) CGAGGGTCTATGGACCACTTG 0.537000 AKAP3 10566 broad.mit.edu 37 12 4737235 4737235 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:4737235G>A uc001qnb.3 - 4 1062 c.833C>T c.(832-834)ACG>ATG p.T278M NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 278 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 AACAGAAGCCGTAAAGTCATC 0.458000 SLCO1C1 53919 broad.mit.edu 37 12 20903616 20903616 + Silent SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:20903616C>A uc001rej.3 + 15 2161 c.1806C>A c.(1804-1806)ATC>ATA p.I602I SLCO1C1_uc010sii.1_Silent_p.I602I|SLCO1C1_uc010sij.1_Silent_p.I553I|SLCO1C1_uc009zip.2_Silent_p.I436I|SLCO1C1_uc001rei.2_Silent_p.I602I|SLCO1C1_uc010sik.1_Silent_p.I484I NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 602 Helical; Name=11; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) CAGCAGGAATCCCAGCTCCAG 0.294000 IFLTD1 160492 broad.mit.edu 37 12 25656696 25656696 + Nonstop_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:25656696A>G uc001rgs.2 - 8 1315 c.1165T>C c.(1165-1167)TAA>CAA p.*389Q IFLTD1_uc001rgt.1_Nonstop_Mutation_p.*292Q|IFLTD1_uc010sji.1_Nonstop_Mutation_p.*410Q|IFLTD1_uc010sjj.1_Nonstop_Mutation_p.*326Q|IFLTD1_uc009zjc.2_Nonstop_Mutation_p.*370Q NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 389 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) TTGACTGCTTATTGCTTTTGT 0.338000 SFRS2IP 9169 broad.mit.edu 37 12 46321761 46321761 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:46321761C>G uc001rox.2 - 11 2010 c.1723G>C c.(1723-1725)GTA>CTA p.V575L SFRS2IP_uc001row.2_Missense_Mutation_p.V260L|SFRS2IP_uc001roy.1_Missense_Mutation_p.V649L NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 575 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) ACTGACTCTACATTCTCAGAT 0.343000 ENDOU 8909 broad.mit.edu 37 12 48110804 48110804 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:48110804C>G uc001rpu.1 - 5 574 c.420G>C c.(418-420)GAG>GAC p.E140D ENDOU_uc010sll.1_5'UTR|ENDOU_uc001rpt.1_Missense_Mutation_p.E99D|ENDOU_uc010slm.1_Missense_Mutation_p.E77D|uc001rpv.2_5'Flank NM_006025 NP_006016 P21128 ENDOU_HUMAN placental protein 11 precursor 140 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity ovary(2)|pancreas(1) 3 TGCTCTGAATCTCCTCTTTTG 0.527000 OREG0021752 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SCN8A 6334 broad.mit.edu 37 12 52156331 52156331 + Silent SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:52156331A>T uc001ryw.2 + 15 2593 c.2415A>T c.(2413-2415)ATA>ATT p.I805I SCN8A_uc010snl.1_Silent_p.I670I|SCN8A_uc001ryy.2_Silent_p.I670I NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 805 Helical; Name=S2 of repeat II; (Potential).|II. 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) TGAAGCTCATAGCCATGGATC 0.408000 ESPL1 9700 broad.mit.edu 37 12 53666524 53666524 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:53666524G>T uc001sck.2 + 6 1480 c.1389G>T c.(1387-1389)TTG>TTT p.L463F ESPL1_uc001scj.2_Missense_Mutation_p.L138F NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 463 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 CCAGTAATTTGGCCTACAGCT 0.547000 DCD 117159 broad.mit.edu 37 12 55039490 55039490 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:55039490A>G uc001sgj.2 - 3 161 c.99T>C c.(97-99)CCT>CCC p.P33P DCD_uc009znt.2_Silent_p.P33P|DCD_uc009znu.2_RNA NM_053283 NP_444513 P81605 DCD_HUMAN dermcidin preproprotein 33 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding ovary(1) 1 Myeloproliferative disorder(1001;0.0255) CTTCATGGCAAGCTGCAAGGG 0.527000 OR6C1 390321 broad.mit.edu 37 12 55715240 55715240 + Missense_Mutation SNP T T A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:55715240T>A uc010spi.1 + 1 857 c.857T>A c.(856-858)TTT>TAT p.F286Y NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 ATGAACCCCTTTATTTACAGC 0.403000 KCNMB4 27345 broad.mit.edu 37 12 70794037 70794037 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:70794037A>G uc001svx.2 + 2 838 c.385A>G c.(385-387)AGT>GGT p.S129G NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 129 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GAATTTGGAAAGTGTCATGAA 0.343000 GLIPR1L2 144321 broad.mit.edu 37 12 75785032 75785032 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:75785032C>T uc001sxr.1 + 1 144 c.136C>T c.(136-138)CCA>TCA p.P46S CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.P46S|GLIPR1L2_uc001sxq.1_5'UTR NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 46 integral to membrane ovary(1) 1 CAGATTTTTGCCAGACGAGGA 0.562000 OREG0021999 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LRRIQ1 84125 broad.mit.edu 37 12 85438514 85438514 + Missense_Mutation SNP T T A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:85438514T>A uc001tac.2 + 4 374 c.263T>A c.(262-264)GTT>GAT p.V88D LRRIQ1_uc001tab.1_Missense_Mutation_p.V88D|LRRIQ1_uc001taa.1_Missense_Mutation_p.V88D|LRRIQ1_uc001tad.2_5'UTR NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 88 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TATGGAGCAGTTTCTAATAAT 0.264000 C12orf50 160419 broad.mit.edu 37 12 88388519 88388519 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:88388519T>C uc001tam.1 - 7 651 c.483A>G c.(481-483)GGA>GGG p.G161G C12orf50_uc001tan.2_Silent_p.G215G NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 161 skin(2)|ovary(1) 3 TAAGACTATCTCCTAGAAATA 0.318000 PLXNC1 10154 broad.mit.edu 37 12 94673350 94673350 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:94673350A>G uc001tdc.2 + 22 3949 c.3700A>G c.(3700-3702)AAA>GAA p.K1234E PLXNC1_uc010sut.1_Missense_Mutation_p.K281E|PLXNC1_uc009zsv.2_5'UTR NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1234 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TGGCCAAGCCAAAGAAAAGAT 0.428000 ANKS1B 56899 broad.mit.edu 37 12 99640323 99640323 + Silent SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:99640323G>C uc001tge.1 - 13 2493 c.2076C>G c.(2074-2076)ACC>ACG p.T692T ANKS1B_uc001tgf.1_Silent_p.T272T|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Silent_p.T658T NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 692 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ATCCACTCCTGGTTGATCTTG 0.443000 C12orf48 55010 broad.mit.edu 37 12 102569440 102569440 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:102569440C>G uc001tjf.2 + 7 1113 c.1001C>G c.(1000-1002)GCT>GGT p.A334G C12orf48_uc001tjg.2_Missense_Mutation_p.A253G|C12orf48_uc010swa.1_Missense_Mutation_p.A411G|C12orf48_uc001tjh.2_Missense_Mutation_p.A253G|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.A49G|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 334 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 ATCAGTCCTGCTCGGGTAATG 0.328000 UNG 7374 broad.mit.edu 37 12 109547651 109547651 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:109547651A>G uc001tnz.1 + 7 889 c.819A>G c.(817-819)CTA>CTG p.L273L UNG_uc001toa.1_Silent_p.L264L NM_080911 NP_550433 P13051 UNG_HUMAN uracil-DNA glycosylase isoform UNG2 273 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity lung(1)|central_nervous_system(1) 2 ACCATGTACTACAGACGGCTC 0.363000 BER_DNA_glycosylases Immune_Deficiency_with_Hyper-IgM SLC15A4 121260 broad.mit.edu 37 12 129294519 129294519 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr12:129294519G>A uc001uhu.2 - 3 1033 c.980C>T c.(979-981)GCT>GTT p.A327V SLC15A4_uc001uhv.2_Intron NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 327 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) AGGTATCAAAGCCAAGAAAAC 0.403000 DNAJC15 29103 broad.mit.edu 37 13 43643111 43643111 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr13:43643111C>G uc001uyy.2 + 3 607 c.206C>G c.(205-207)ACA>AGA p.T69R NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN DNAJ domain-containing 69 integral to membrane heat shock protein binding 0 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CAAGTTATCACAGAAACTGCA 0.308000 ATP11A 23250 broad.mit.edu 37 13 113510249 113510249 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr13:113510249C>T uc001vsi.3 + 20 2356 c.2268C>T c.(2266-2268)TAC>TAT p.Y756Y ATP11A_uc001vsj.3_Silent_p.Y756Y|ATP11A_uc001vsm.1_Silent_p.Y632Y|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 756 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 large_intestine(2)|ovary(2) 4 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_lung(25;0.134)|all_epithelial(44;0.141) TGCAGGACTACGGTTTAATTA 0.438000 KLHL28 54813 broad.mit.edu 37 14 45414529 45414529 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:45414529T>C uc001wvq.2 - 2 849 c.603A>G c.(601-603)GCA>GCG p.A201A KLHL28_uc001wvr.2_Silent_p.A201A|KLHL28_uc001wvt.3_Silent_p.A201A NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 201 ovary(1) 1 AAGACTCTAATGCATAAAAAA 0.373000 CGRRF1 10668 broad.mit.edu 37 14 55004881 55004881 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:55004881C>G uc001xay.2 + 6 870 c.779C>G c.(778-780)TCT>TGT p.S260C CGRRF1_uc001xaz.2_RNA NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 260 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 GTGGGACTCTCTGAAAGTGAA 0.428000 WDHD1 11169 broad.mit.edu 37 14 55451447 55451447 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:55451447C>G uc001xbm.1 - 15 1978 c.1900G>C c.(1900-1902)GCT>CCT p.A634P WDHD1_uc010aom.1_Missense_Mutation_p.A151P|WDHD1_uc001xbn.1_Missense_Mutation_p.A511P NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 634 cytoplasm|nucleoplasm DNA binding skin(1) 1 TTGCCTTCAGCTGAAAACCCA 0.308000 FBXO34 55030 broad.mit.edu 37 14 55817527 55817527 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:55817527C>G uc001xbu.2 + 2 664 c.419C>G c.(418-420)TCC>TGC p.S140C FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.S140C NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 140 ovary(2)|lung(2)|skin(1) 5 ATAAAAAGTTCCTGGGATATT 0.413000 SFRS5 6430 broad.mit.edu 37 14 70235352 70235352 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:70235352C>G uc001xll.2 + 4 1609 c.158C>G c.(157-159)GCT>GGT p.A53G SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.A53G|SFRS5_uc001xlo.2_Missense_Mutation_p.A53G|SFRS5_uc001xlp.2_Missense_Mutation_p.A53G|SFRS5_uc001xlq.2_Missense_Mutation_p.A50G NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 53 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) GCAGATGATGCTGTGTATGAG 0.413000 ADAM20 8748 broad.mit.edu 37 14 70990979 70990979 + Missense_Mutation SNP T T A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:70990979T>A uc001xme.2 - 2 891 c.646A>T c.(646-648)ACA>TCA p.T216S NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 166 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GGAAACTGTGTATCATCACTG 0.358000 ESRRB 2103 broad.mit.edu 37 14 76928915 76928915 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:76928915C>G uc001xsq.1 + 3 492 c.425C>G c.(424-426)ACC>AGC p.T142S ESRRB_uc001xsr.2_Missense_Mutation_p.T142S|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 142 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) TGCCCGGCCACCAACGAGTGC 0.632000 ISM2 145501 broad.mit.edu 37 14 77948847 77948847 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr14:77948847T>C uc001xtz.2 - 4 865 c.791A>G c.(790-792)GAG>GGG p.E264G ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.E176G|ISM2_uc010tvl.1_Missense_Mutation_p.E183G NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN isthmin 2 homolog isoform 1 264 extracellular region skin(1) 1 ctcccccttctccccTGGGGC 0.313000 GABRA5 2558 broad.mit.edu 37 15 27193231 27193231 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr15:27193231G>A uc001zbd.1 + 12 1579 c.1240G>A c.(1240-1242)GAA>AAA p.E414K GABRA5_uc001zbe.1_RNA NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 414 Cytoplasmic (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) GAAGACTTCTGAAAGCAAAAA 0.448000 HERC2 8924 broad.mit.edu 37 15 28421839 28421839 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr15:28421839C>T uc001zbj.2 - 62 9614 c.9508G>A c.(9508-9510)GAT>AAT p.D3170N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3170 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCACCTTCATCGGTCAGAGCC 0.468000 OTUD7A 161725 broad.mit.edu 37 15 31795994 31795994 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr15:31795994G>A uc001zfq.2 - 7 993 c.900C>T c.(898-900)TAC>TAT p.Y300Y OTUD7A_uc001zfr.2_Silent_p.Y307Y NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 300 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCAGGCTCTCGTACACGGGGT 0.493000 ACTC1 70 broad.mit.edu 37 15 35083462 35083462 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr15:35083462G>A uc001ziu.1 - 6 1086 c.843C>T c.(841-843)TAC>TAT p.Y281Y uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 281 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TGATGCTATTGTAAGTTGTTT 0.338000 PLCB2 5330 broad.mit.edu 37 15 40595516 40595516 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr15:40595516G>A uc001zld.2 - 3 505 c.204C>T c.(202-204)CGC>CGT p.R68R PLCB2_uc010bbo.2_Silent_p.R68R|PLCB2_uc010ucm.1_Silent_p.R68R|PLCB2_uc001zle.3_Silent_p.R68R NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 68 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) ACTTCCCAAAGCGAGTATCCC 0.577000 ZSCAN2 54993 broad.mit.edu 37 15 85164527 85164527 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr15:85164527C>T uc002bkr.2 + 3 1327 c.1101C>T c.(1099-1101)TGC>TGT p.C367C ZSCAN2_uc010bmz.1_Silent_p.C365C|ZSCAN2_uc010bna.2_Silent_p.C217C|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 367 C2H2-type 6. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GTAAAGAATGCGGCGAAAGCT 0.502000 GPR139 124274 broad.mit.edu 37 16 20043247 20043247 + Missense_Mutation SNP C C T rs144836581 TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:20043247C>T uc002dgu.1 - 2 1034 c.872G>A c.(871-873)CGG>CAG p.R291Q GPR139_uc010vaw.1_Missense_Mutation_p.R198Q NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 291 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 GGTGCGGAACCGCTTGCTGAT 0.502000 SCNN1B 6338 broad.mit.edu 37 16 23388519 23388519 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:23388519C>T uc002dln.2 + 9 1480 c.1304C>T c.(1303-1305)GCG>GTG p.A435V NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 435 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ATGAGCGTGGCGCAGAGAGAG 0.607000 CORO1A 11151 broad.mit.edu 37 16 30199292 30199292 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:30199292C>T uc002dww.2 + 8 1013 c.891C>T c.(889-891)ATC>ATT p.I297I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.I297I|CORO1A_uc010bzr.2_Silent_p.I297I|CORO1A_uc002dwx.2_Silent_p.I191I|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 297 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 ACTTTGAGATCACTTCCGAGG 0.597000 SEPHS2 22928 broad.mit.edu 37 16 30456419 30456419 + Silent SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:30456419C>G uc010ves.1 - 2 806 c.630G>C c.(628-630)GTG>GTC p.V210V SEPHS2_uc002dyh.1_Silent_p.V153V|SEPHS2_uc010vet.1_Silent_p.V92V NM_012248 NP_036380 Q99611 SPS2_HUMAN selenophosphate synthetase 2 210 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(2) 2 GCCCACCGGTCACTGCCGTCC 0.552000 RPGRIP1L 23322 broad.mit.edu 37 16 53698873 53698873 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:53698873C>G uc002ehp.2 - 10 1216 c.1152G>C c.(1150-1152)CAG>CAC p.Q384H RPGRIP1L_uc002eho.3_Missense_Mutation_p.Q384H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.Q384H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.Q384H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.Q384H NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 384 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GCACTTTCAGCTGTTGCTCCT 0.438000 GLG1 2734 broad.mit.edu 37 16 74527016 74527016 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:74527016C>T uc002fcy.3 - 7 1123 c.1073G>A c.(1072-1074)CGC>CAC p.R358H GLG1_uc002fcx.2_Missense_Mutation_p.R358H|GLG1_uc002fcw.3_Missense_Mutation_p.R347H|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 358 Cys-rich GLG1 5.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 CAGCTTTTGGCGGGTTGTAAG 0.443000 OR1A1 8383 broad.mit.edu 37 17 3119403 3119403 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:3119403A>G uc010vrc.1 + 1 489 c.489A>G c.(487-489)ACA>ACG p.T163T NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTCTGCTCACAGCTAGTCTGT 0.483000 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652000 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) CORO6 84940 broad.mit.edu 37 17 27944627 27944627 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:27944627G>A uc002hel.2 - 5 646 c.644C>T c.(643-645)GCG>GTG p.A215V CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 215 actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CTCGTGGGCCGCAAACCTCTC 0.662000 AMAC1 146861 broad.mit.edu 37 17 33520885 33520885 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:33520885A>G uc002hjd.2 - 1 528 c.442T>C c.(442-444)TGC>CGC p.C148R NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 148 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CTCTCAAGGCAGAGAGTGAGG 0.577000 GAS2L2 246176 broad.mit.edu 37 17 34073002 34073002 + Missense_Mutation SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:34073002A>T uc002hjv.1 - 6 1542 c.1514T>A c.(1513-1515)ATC>AAC p.I505N NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 505 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGCAGCCGGATGGGGATCTT 0.607000 SC65 10609 broad.mit.edu 37 17 39967493 39967493 + Missense_Mutation SNP A A C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:39967493A>C uc002hxt.2 - 2 790 c.506T>G c.(505-507)CTC>CGC p.L169R FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.L260R NM_006455 NP_006446 Q92791 SC65_HUMAN synaptonemal complex protein SC65 169 synaptonemal complex assembly nucleolus|synaptonemal complex binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.149) GTTCCTCTGGAGGAAGGTGTA 0.672000 RNF157 114804 broad.mit.edu 37 17 74157975 74157975 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr17:74157975A>G uc002jqz.2 - 10 970 c.901T>C c.(901-903)TGT>CGT p.C301R RNF157_uc002jra.2_Missense_Mutation_p.C301R NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 301 RING-type. zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) GTGTCTGCACAGGTGTTACAG 0.607000 APCDD1 147495 broad.mit.edu 37 18 10471557 10471557 + Silent SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr18:10471557C>A uc002kom.3 + 3 627 c.273C>A c.(271-273)ATC>ATA p.I91I NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 91 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) CAGAGTTCATCACAAGGTCCT 0.438000 SERPINB11 89778 broad.mit.edu 37 18 61378588 61378588 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr18:61378588C>A uc002ljk.3 + 3 250 c.188C>A c.(187-189)ACT>AAT p.T63N SERPINB11_uc010xes.1_Translation_Start_Site|SERPINB11_uc010dqd.2_Translation_Start_Site|SERPINB11_uc002ljj.3_Translation_Start_Site|SERPINB11_uc010dqe.2_Translation_Start_Site|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 63 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) TTTAGTCATACTGTAGACTCA 0.333000 EBI3 10148 broad.mit.edu 37 19 4236942 4236942 + Missense_Mutation SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:4236942A>T uc002lzu.2 + 5 555 c.547A>T c.(547-549)ATT>TTT p.I183F NM_005755 NP_005746 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 precursor 183 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGGGCCCATTGAAGCCAC 0.602000 MUC16 94025 broad.mit.edu 37 19 9015743 9015743 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:9015743C>A uc002mkp.2 - 29 38284 c.38080G>T c.(38080-38082)GCT>TCT p.A12694S MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12696 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGAGGGCCAGCAGCTGTAGTG 0.428000 OR7D4 125958 broad.mit.edu 37 19 9325461 9325461 + Nonsense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:9325461G>C uc002mla.1 - 1 53 c.53C>G c.(52-54)TCA>TGA p.S18* NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGGATCATCTGAGAGTCCCAG 0.498000 SLC1A6 6511 broad.mit.edu 37 19 15073090 15073090 + Missense_Mutation SNP G G A rs141656938 byFrequency TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:15073090G>A uc002naa.1 - 5 667 c.659C>T c.(658-660)CCG>CTG p.P220L SLC1A6_uc010dzu.1_Missense_Mutation_p.P220L|SLC1A6_uc010xod.1_Missense_Mutation_p.P156L|SLC1A6_uc002nab.2_Missense_Mutation_p.P220L|SLC1A6_uc002nac.2_Missense_Mutation_p.P220L NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 220 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GGAGGCACCCGGCTCAGACCC 0.542000 GPATCH1 55094 broad.mit.edu 37 19 33579069 33579069 + Nonsense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:33579069C>T uc002nug.1 + 2 417 c.103C>T c.(103-105)CAG>TAG p.Q35* NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 35 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) AATCCCTCTTCAGGATCAGAC 0.363000 LSM14A 26065 broad.mit.edu 37 19 34710403 34710403 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:34710403G>C uc002nvb.3 + 7 1085 c.889G>C c.(889-891)GAC>CAC p.D297H LSM14A_uc002nva.3_Missense_Mutation_p.D297H|LSM14A_uc010xru.1_Missense_Mutation_p.D256H|LSM14A_uc002nvc.3_Missense_Mutation_p.D103H NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 297 DFDF. cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) GAAAGACTTTGACTTTGAAAG 0.418000 UBA2 10054 broad.mit.edu 37 19 34949798 34949798 + Missense_Mutation SNP A A C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:34949798A>C uc002nvk.2 + 13 1440 c.1370A>C c.(1369-1371)CAT>CCT p.H457P UBA2_uc010xrx.1_Missense_Mutation_p.H330P|UBA2_uc002nvl.2_Missense_Mutation_p.H361P NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 457 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CTGAATGTCCATAAAGTGACT 0.458000 ZNF345 25850 broad.mit.edu 37 19 37369066 37369066 + Missense_Mutation SNP A A C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:37369066A>C uc002oex.2 + 3 1712 c.1334A>C c.(1333-1335)CAG>CCG p.Q445P ZNF345_uc002oey.3_Missense_Mutation_p.Q445P|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 445 C2H2-type 14. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTCAGCATCAGAGAATTCAT 0.418000 ZNF284 342909 broad.mit.edu 37 19 44585178 44585178 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:44585178C>T uc002oyg.1 + 3 242 c.26C>T c.(25-27)ACC>ATC p.T9I ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 9 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) GAGGCAGTGACCTTCAAGGAT 0.527000 CRX 1406 broad.mit.edu 37 19 48342695 48342695 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:48342695C>T uc002phq.3 + 4 575 c.371C>T c.(370-372)TCC>TTC p.S124F NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 124 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GCGGGCACGTCCCCAAGACCC 0.552000 IZUMO1 284359 broad.mit.edu 37 19 49244646 49244646 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:49244646G>T uc002pkj.2 - 9 1392 c.844C>A c.(844-846)CCT>ACT p.P282T RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 precursor 282 Extracellular (Potential). fusion of sperm to egg plasma membrane integral to membrane ovary(1) 1 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GGCTGCAGAGGCTGGAGGCTT 0.552000 TULP2 7288 broad.mit.edu 37 19 49391498 49391498 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:49391498C>T uc002pkz.2 - 8 808 c.657G>A c.(655-657)AAG>AAA p.K219K NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 219 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGGCCTCTCTCTTCTTTTCCA 0.547000 CPT1C 126129 broad.mit.edu 37 19 50210790 50210790 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:50210790C>T uc002ppj.2 + 12 1564 c.1359C>T c.(1357-1359)TCC>TCT p.S453S CPT1C_uc002ppl.3_Silent_p.S419S|CPT1C_uc002ppi.2_Silent_p.S370S|CPT1C_uc002ppk.2_Silent_p.S442S|CPT1C_uc010eng.2_Silent_p.S453S|CPT1C_uc010enh.2_Silent_p.S453S|CPT1C_uc010ybc.1_Silent_p.S324S|CPT1C_uc010eni.1_Silent_p.S110S NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 453 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) TTGACAAATCCTTCACCCTAA 0.592000 ZNF611 81856 broad.mit.edu 37 19 53209471 53209471 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:53209471T>C uc002pzz.2 - 7 1154 c.837A>G c.(835-837)AGA>AGG p.R279R ZNF611_uc010eqc.2_Silent_p.R209R|ZNF611_uc010ydo.1_Silent_p.R209R|ZNF611_uc010ydr.1_Silent_p.R210R|ZNF611_uc010ydp.1_Silent_p.R279R|ZNF611_uc010ydq.1_Silent_p.R279R|ZNF611_uc002qaa.3_Silent_p.R209R NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 279 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) CAGTGTGACATCTATCATGGC 0.418000 NLRP5 126206 broad.mit.edu 37 19 56538777 56538777 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:56538777G>C uc002qmj.2 + 7 1178 c.1178G>C c.(1177-1179)AGT>ACT p.S393T NLRP5_uc002qmi.2_Missense_Mutation_p.S374T NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 393 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCATACGCAGTCTGCTGAGG 0.552000 ZNF667 63934 broad.mit.edu 37 19 56953014 56953014 + Missense_Mutation SNP T T G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:56953014T>G uc002qnd.2 - 5 1512 c.1350A>C c.(1348-1350)AAA>AAC p.K450N ZNF667_uc010etl.2_Missense_Mutation_p.K232N|ZNF667_uc002qne.2_Missense_Mutation_p.K450N|ZNF667_uc010etm.2_Missense_Mutation_p.K393N NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 450 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGCCGAAAACTTTACTACATT 0.373000 ZNF667 63934 broad.mit.edu 37 19 56953179 56953179 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:56953179G>A uc002qnd.2 - 5 1347 c.1185C>T c.(1183-1185)TGC>TGT p.C395C ZNF667_uc010etl.2_Silent_p.C177C|ZNF667_uc002qne.2_Silent_p.C395C|ZNF667_uc010etm.2_Silent_p.C338C NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 395 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AATGCCGATTGCAGACCTTCT 0.363000 ZNF418 147686 broad.mit.edu 37 19 58439142 58439142 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:58439142G>A uc002qqs.1 - 4 699 c.407C>T c.(406-408)CCC>CTC p.P136L ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.P51L NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GCTTCTATAGGGTTTCTCTCC 0.438000 ALLC 55821 broad.mit.edu 37 2 3730541 3730541 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:3730541G>C uc010ewt.2 + 7 549 c.388G>C c.(388-390)GAC>CAC p.D130H NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 149 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GCTAAAATCCGACGACTGGAG 0.428000 HNSCC(21;0.051) SLC5A6 8884 broad.mit.edu 37 2 27424276 27424276 + Nonsense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:27424276G>T uc002rjd.2 - 15 1981 c.1590C>A c.(1588-1590)TAC>TAA p.Y530* SLC5A6_uc010eyv.1_Nonsense_Mutation_p.Y530* NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 530 Helical; (Potential). biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TGTGAGCACTGTACCATAAGT 0.532000 SLC4A1AP 22950 broad.mit.edu 37 2 27888079 27888079 + Missense_Mutation SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:27888079A>T uc002rlk.3 + 2 1220 c.938A>T c.(937-939)GAT>GTT p.D313V SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 313 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) GAAGACTCAGATGAAGAAGAG 0.433000 SOS1 6654 broad.mit.edu 37 2 39224431 39224431 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:39224431T>C uc002rrk.3 - 18 2968 c.2927A>G c.(2926-2928)AAT>AGT p.N976S SOS1_uc002rrj.3_Missense_Mutation_p.N590S NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 976 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) GTAAGGCTGATTTTGGTACTG 0.343000 Noonan_syndrome ANKRD53 79998 broad.mit.edu 37 2 71206308 71206308 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:71206308C>T uc002shl.3 + 2 453 c.252C>T c.(250-252)ACC>ACT p.T84T ANKRD53_uc002shk.3_Silent_p.T84T|ANKRD53_uc002shm.3_Intron NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 84 0 CCTCGCTCACCCCGCCCCGCG 0.731000 DGUOK 1716 broad.mit.edu 37 2 74154045 74154045 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:74154045C>T uc002sjx.2 + 1 93 c.8C>T c.(7-9)GCG>GTG p.A3V DGUOK_uc002sjy.2_Missense_Mutation_p.A3V|DGUOK_uc002sjz.2_RNA NM_080916 NP_550438 Q16854 DGUOK_HUMAN deoxyguanosine kinase isoform a precursor 3 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor 0 GGGATGGCCGCGGGCCGCCTC 0.642000 REG1B 5968 broad.mit.edu 37 2 79313512 79313512 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:79313512C>A uc002sny.2 - 4 414 c.302G>T c.(301-303)GGC>GTC p.G101V REG1B_uc010ffv.1_Missense_Mutation_p.G101V|REG1B_uc010ffw.2_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 101 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 GTCATGGAGGCCAATCCAGAC 0.507000 LRP1B 53353 broad.mit.edu 37 2 141609267 141609267 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:141609267C>T uc002tvj.1 - 28 5637 c.4665G>A c.(4663-4665)GCG>GCA p.A1555A LRP1B_uc010fnl.1_Silent_p.A737A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1555 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTGGGGGCACGCACAGGCAG 0.413000 TSP Lung(27;0.18) ACVR1 90 broad.mit.edu 37 2 158634764 158634764 + Missense_Mutation SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:158634764A>T uc002tzm.3 - 6 761 c.422T>A c.(421-423)CTG>CAG p.L141Q ACVR1_uc002tzn.3_Missense_Mutation_p.L141Q|ACVR1_uc010fog.2_Missense_Mutation_p.L141Q NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 141 Helical; (Potential). BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) AACTCCCAGCAGGCAGGCTAA 0.493000 TTN 7273 broad.mit.edu 37 2 179597039 179597039 + Nonsense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:179597039G>A uc010zfg.1 - 54 13149 c.12925C>T c.(12925-12927)CAG>TAG p.Q4309* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q970* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5236 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) TTTAACAGCTGTGATGGCTCT 0.388000 AOX1 316 broad.mit.edu 37 2 201485506 201485506 + Missense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:201485506C>A uc002uvx.2 + 17 1939 c.1838C>A c.(1837-1839)ACT>AAT p.T613N AOX1_uc010zhf.1_Missense_Mutation_p.T169N|AOX1_uc010fsu.2_Intron NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 613 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTTTTCTTGACTTTTGTGACT 0.443000 NBEAL1 65065 broad.mit.edu 37 2 204003442 204003442 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:204003442C>G uc002uzt.3 + 30 5065 c.4732C>G c.(4732-4734)CTA>GTA p.L1578V NBEAL1_uc002uzs.3_Missense_Mutation_p.L288V NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1578 binding ovary(1)|skin(1) 2 CCAGTTGCTTCTAGGATTCAT 0.383000 FN1 2335 broad.mit.edu 37 2 216259400 216259400 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:216259400T>C uc002vfa.2 - 24 3913 c.3647A>G c.(3646-3648)CAG>CGG p.Q1216R FN1_uc002vfb.2_Missense_Mutation_p.Q1216R|FN1_uc002vfc.2_Missense_Mutation_p.Q1216R|FN1_uc002vfd.2_Missense_Mutation_p.Q1216R|FN1_uc002vfe.2_Missense_Mutation_p.Q1216R|FN1_uc002vff.2_Missense_Mutation_p.Q1216R|FN1_uc002vfg.2_Missense_Mutation_p.Q1216R|FN1_uc002vfh.2_Missense_Mutation_p.Q1216R|FN1_uc002vfi.2_Missense_Mutation_p.Q1216R|FN1_uc002vfj.2_Missense_Mutation_p.Q1216R|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1216 Fibronectin type-III 7. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTTCCCTGCTGGCCGTTTGT 0.448000 FN1 2335 broad.mit.edu 37 2 216272916 216272916 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:216272916A>G uc002vfa.2 - 17 2699 c.2433T>C c.(2431-2433)CCT>CCC p.P811P FN1_uc002vfb.2_Silent_p.P811P|FN1_uc002vfc.2_Silent_p.P811P|FN1_uc002vfd.2_Silent_p.P811P|FN1_uc002vfe.2_Silent_p.P811P|FN1_uc002vff.2_Silent_p.P811P|FN1_uc002vfg.2_Silent_p.P811P|FN1_uc002vfh.2_Silent_p.P811P|FN1_uc002vfi.2_Silent_p.P811P|FN1_uc002vfj.2_Silent_p.P811P NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 811 Fibronectin type-III 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGGGCATCAGGCGCTAAGA 0.488000 STK36 27148 broad.mit.edu 37 2 219563446 219563446 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:219563446G>A uc002viu.2 + 26 3445 c.3179G>A c.(3178-3180)AGA>AAA p.R1060K STK36_uc002viv.2_Missense_Mutation_p.R1039K|STK36_uc002viw.2_Missense_Mutation_p.R238K|STK36_uc002vix.2_Missense_Mutation_p.R105K NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1060 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCCTCCCCTAGAACCATCGTC 0.567000 PER2 8864 broad.mit.edu 37 2 239181794 239181794 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr2:239181794C>T uc002vyc.2 - 5 724 c.487G>A c.(487-489)GGT>AGT p.G163S PER2_uc010znv.1_Missense_Mutation_p.G163S|PER2_uc010znw.1_Missense_Mutation_p.G163S|PER2_uc010fyx.1_Missense_Mutation_p.G163S NM_022817 NP_073728 O15055 PER2_HUMAN period 2 163 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CAGGGGTGACCCTCGCTGGAC 0.567000 SIGLEC1 6614 broad.mit.edu 37 20 3686499 3686499 + Nonsense_Mutation SNP C C A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr20:3686499C>A uc002wja.2 - 3 598 c.598G>T c.(598-600)GAG>TAG p.E200* SIGLEC1_uc002wiz.3_Nonsense_Mutation_p.E200*|SIGLEC1_uc002wjc.2_Nonsense_Mutation_p.E111* NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 200 Ig-like C2-type 1.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 TGGAGGGTCTCCAGGTGGCCG 0.642000 MAVS 57506 broad.mit.edu 37 20 3842020 3842020 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr20:3842020C>G uc002wjw.3 + 4 503 c.334C>G c.(334-336)CTT>GTT p.L112V MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 112 Pro-rich.|Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 GCCACCGTCACTTCCTGCTGA 0.537000 PRNP 5621 broad.mit.edu 37 20 4680317 4680317 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr20:4680317C>T uc002wku.2 + 2 814 c.451C>T c.(451-453)CGT>TGT p.R151C PRNP_uc002wkv.2_Missense_Mutation_p.R151C|PRNP_uc002wkw.2_Missense_Mutation_p.R151C|PRNP_uc002wkx.2_Missense_Mutation_p.R151C|PRNP_uc002wkt.1_Missense_Mutation_p.R121C|PRNP_uc002wky.2_Missense_Mutation_p.R151C|PRNP_uc010gbe.1_Missense_Mutation_p.R151C NM_001080122 NP_001073591 P04156 PRIO_HUMAN prion protein preproprotein 151 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(1) 1 Tetracycline(DB00759) CCGTTACTATCGTGAAAACAT 0.527000 PHF20 51230 broad.mit.edu 37 20 34430649 34430649 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr20:34430649G>A uc002xek.1 + 3 349 c.238G>A c.(238-240)GAA>AAA p.E80K PHF20_uc002xei.1_Missense_Mutation_p.E80K|PHF20_uc010gfo.1_Missense_Mutation_p.E80K|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) GGGCTTGCATGAAGAGGATGG 0.433000 CHD6 84181 broad.mit.edu 37 20 40050063 40050063 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr20:40050063A>G uc002xka.1 - 31 5390 c.5212T>C c.(5212-5214)TCA>CCA p.S1738P NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1738 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTGCTTATTGAGATGGTAATA 0.458000 ADAMTS1 9510 broad.mit.edu 37 21 28210789 28210789 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr21:28210789T>C uc002ymf.2 - 8 2628 c.2173A>G c.(2173-2175)AAA>GAA p.K725E NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 725 Spacer. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GATATTTTTTTACAAGTAGAT 0.368000 ABCG1 9619 broad.mit.edu 37 21 43645878 43645878 + Missense_Mutation SNP A A C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr21:43645878A>C uc002zaq.2 + 2 246 c.140A>C c.(139-141)GAC>GCC p.D47A ABCG1_uc002zan.2_Missense_Mutation_p.D49A|ABCG1_uc002zam.2_Missense_Mutation_p.D25A|ABCG1_uc002zao.2_Missense_Mutation_p.D44A|ABCG1_uc002zap.2_Missense_Mutation_p.D47A|ABCG1_uc002zar.2_Missense_Mutation_p.D58A|ABCG1_uc011aev.1_Missense_Mutation_p.D58A NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 47 Cytoplasmic (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) ACTGAGACGGACCTGCTGAAT 0.532000 RANBP1 5902 broad.mit.edu 37 22 20112860 20112860 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr22:20112860G>C uc002zro.1 + 4 489 c.340G>C c.(340-342)GCA>CCA p.A114P RANBP1_uc011ahl.1_Missense_Mutation_p.A114P|RANBP1_uc002zrp.2_Missense_Mutation_p.A114P NM_002882 NP_002873 P43487 RANG_HUMAN RAN binding protein 1 114 RanBD1. intracellular transport|signal transduction|viral reproduction nuclear envelope GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding breast(1) 1 Colorectal(54;0.0993) GAAGCCCAACGCAGGTAGCGA 0.617000 HMGXB4 10042 broad.mit.edu 37 22 35660640 35660640 + Splice_Site SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr22:35660640G>C uc003anl.2 + 5 434 c.260_splice c.e5-1 p.D87_splice HMGXB4_uc011amh.1_Splice_Site|HMGXB4_uc003ank.2_Splice_Site NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN high-mobility group protein 2-like 1 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|skin(1) 2 ATTATTTCTAGATATTTCGTC 0.398000 MFNG 4242 broad.mit.edu 37 22 37872993 37872993 + Silent SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr22:37872993A>T uc003ass.1 - 5 758 c.588T>A c.(586-588)ACT>ACA p.T196T MFNG_uc011ani.1_Silent_p.T74T|MFNG_uc011anj.1_Silent_p.T182T NM_002405 NP_002396 O00587 MFNG_HUMAN O-fucosylpeptide 196 Lumenal (Potential). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity lung(1) 1 Melanoma(58;0.0574) CAGCACCCCCAGTGGCAAACC 0.622000 MGAT3 4248 broad.mit.edu 37 22 39884750 39884750 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr22:39884750C>T uc003axv.3 + 2 1637 c.1398C>T c.(1396-1398)GAC>GAT p.D466D MGAT3_uc010gxy.2_Silent_p.D466D NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 466 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) GCTGGTTCGACGGCACGCAGC 0.632000 SEMA5B 54437 broad.mit.edu 37 3 122631107 122631107 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr3:122631107G>A uc003efz.1 - 19 3112 c.2808C>T c.(2806-2808)TCC>TCT p.S936S SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.S936S|SEMA5B_uc003efy.1_5'UTR NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 936 Extracellular (Potential).|TSP type-1 4. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GGCTGGTGCAGGAACGGGTGC 0.637000 TOPBP1 11073 broad.mit.edu 37 3 133374275 133374275 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr3:133374275G>C uc003eps.2 - 6 733 c.601C>G c.(601-603)CTT>GTT p.L201V NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 201 BRCT 2. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 ATGCAACCAAGAAAAATAGGA 0.343000 Other_conserved_DNA_damage_response_genes GPR149 344758 broad.mit.edu 37 3 154146753 154146753 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr3:154146753A>G uc003faa.2 - 1 752 c.652T>C c.(652-654)TGT>CGT p.C218R NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 218 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCCTCCGAACACAGCAATCGG 0.577000 PLCH1 23007 broad.mit.edu 37 3 155203145 155203145 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr3:155203145C>G uc011bok.1 - 22 3275 c.2998G>C c.(2998-3000)GCA>CCA p.A1000P PLCH1_uc011boj.1_Missense_Mutation_p.V1000L|PLCH1_uc011bol.1_Missense_Mutation_p.A962P NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1000 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) AGCATCTTACCTAGAGAGTTT 0.423000 SI 6476 broad.mit.edu 37 3 164733853 164733853 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr3:164733853C>G uc003fei.2 - 32 3837 c.3775G>C c.(3775-3777)GAC>CAC p.D1259H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1259 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) TAGTCAATGTCTGTGTACTGA 0.328000 HNSCC(35;0.089) HS3ST1 9957 broad.mit.edu 37 4 11401042 11401042 + Nonsense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr4:11401042G>C uc003gmq.2 - 2 911 c.588C>G c.(586-588)TAC>TAG p.Y196* NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 196 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 TGTGCACGTGGTAGAGGCTGC 0.597000 PACRGL 133015 broad.mit.edu 37 4 20709483 20709483 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr4:20709483A>G uc010iek.2 + 4 656 c.265A>G c.(265-267)ATT>GTT p.I89V PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.I137V|PACRGL_uc003gpz.2_Missense_Mutation_p.I89V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.I89V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 89 binding 0 TAAAGGAGGTATTCCTTGCAG 0.279000 ATP8A1 10396 broad.mit.edu 37 4 42416720 42416720 + Silent SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr4:42416720C>T uc003gwr.2 - 36 3553 c.3321G>A c.(3319-3321)GCG>GCA p.A1107A ATP8A1_uc003gwq.2_Silent_p.A333A|ATP8A1_uc003gws.2_Silent_p.A1092A NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 1107 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TGAGCAGTTGCGCCCTCTCGG 0.473000 FRYL 285527 broad.mit.edu 37 4 48524956 48524956 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr4:48524956C>T uc003gyh.1 - 54 8088 c.7483G>A c.(7483-7485)GCA>ACA p.A2495T FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.A1191T|FRYL_uc003gyi.1_Missense_Mutation_p.A1383T|FRYL_uc003gyj.1_Missense_Mutation_p.A790T NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2495 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GCTGTAAGTGCCGCTTCTTCT 0.483000 FAT1 2195 broad.mit.edu 37 4 187540371 187540371 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr4:187540371G>T uc003izf.2 - 10 7557 c.7369C>A c.(7369-7371)CTG>ATG p.L2457M NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2457 Extracellular (Potential).|Cadherin 22. 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 AATGGCTTCAGGGCGTGCCGG 0.443000 HNSCC(5;0.00058) SEMA5A 9037 broad.mit.edu 37 5 9197366 9197366 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:9197366C>T uc003jek.2 - 10 1694 c.982G>A c.(982-984)GCG>ACG p.A328T NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 328 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AAGGCCTGCGCGATGGCGCTC 0.607000 CDH9 1007 broad.mit.edu 37 5 26915754 26915754 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:26915754A>G uc003jgs.1 - 3 676 c.507T>C c.(505-507)CCT>CCC p.P169P CDH9_uc010iug.2_Silent_p.P169P NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 169 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAGACATTTCAGGAACACTGG 0.348000 PDZD2 23037 broad.mit.edu 37 5 32089228 32089228 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:32089228G>C uc003jhl.2 + 20 6062 c.5674G>C c.(5674-5676)GGC>CGC p.G1892R PDZD2_uc003jhm.2_Missense_Mutation_p.G1892R NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1892 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CAGCCTCAAGGGCAAGGCCAA 0.547000 ITGA1 3672 broad.mit.edu 37 5 52206033 52206033 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:52206033G>C uc003jou.2 + 14 1693 c.1641G>C c.(1639-1641)CAG>CAC p.Q547H ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.Q78H NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 547 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CTATTAAGCAGACGTGCTGTT 0.408000 CCDC125 202243 broad.mit.edu 37 5 68595886 68595886 + Missense_Mutation SNP T T A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:68595886T>A uc003jvv.1 - 7 812 c.769A>T c.(769-771)AAC>TAC p.N257Y CCDC125_uc003jvx.1_Missense_Mutation_p.N256Y|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.N132Y NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 257 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CAGCACATGTTTTCCTGAGCC 0.438000 TSLP 85480 broad.mit.edu 37 5 110411751 110411751 + Silent SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:110411751A>T uc003kpb.2 + 4 658 c.459A>T c.(457-459)CGA>CGT p.R153R TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_Silent_p.R57R NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 153 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) GCTTCAATCGACCTTTACTGA 0.353000 SNCAIP 9627 broad.mit.edu 37 5 121786900 121786900 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:121786900T>C uc003ksw.1 + 10 2564 c.2358T>C c.(2356-2358)ACT>ACC p.T786T SNCAIP_uc011cwl.1_Silent_p.T344T|SNCAIP_uc003ksx.1_Silent_p.T833T|SNCAIP_uc003ksy.1_Silent_p.T420T|SNCAIP_uc003ksz.1_Silent_p.T420T|SNCAIP_uc010jcu.2_Silent_p.T382T|SNCAIP_uc011cwm.1_Silent_p.T420T|SNCAIP_uc003kta.1_Silent_p.T418T|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.T480T|SNCAIP_uc010jcx.1_Silent_p.T726T|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.T302T NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 786 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CTGACAGTACTGCTGCCCAGA 0.527000 EIF4E1B 253314 broad.mit.edu 37 5 176070195 176070196 + Missense_Mutation DNP TG TG GC TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:176070195_176070196TG>GC uc010jkf.1 + 4 712_713 c.128_129TG>GC c.(127-129)CTG>CGC p.L43R NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 43 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGACTTTGCTGTCTCTGAGAG 0.411000 UIMC1 51720 broad.mit.edu 37 5 176370441 176370441 + Missense_Mutation SNP A A T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:176370441A>T uc011dfp.1 - 10 1659 c.1492T>A c.(1492-1494)TCA>ACA p.S498T UIMC1_uc003mfc.1_Missense_Mutation_p.S375T|UIMC1_uc003mfd.1_Missense_Mutation_p.S128T|UIMC1_uc003mfg.1_Missense_Mutation_p.S217T|UIMC1_uc003mfe.1_RNA|UIMC1_uc003mff.1_Missense_Mutation_p.S128T NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 498 Necessary for interaction with NR6A1 C- terminus. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTACTGGATGAGAAGGTAGAA 0.438000 BMP6 654 broad.mit.edu 37 6 7845400 7845400 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:7845400G>A uc003mxu.3 + 2 870 c.692G>A c.(691-693)CGT>CAT p.R231H NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 231 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) TTCTCCCCTCGTCAGCGACAC 0.468000 HIVEP1 3096 broad.mit.edu 37 6 12123821 12123821 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:12123821C>G uc003nac.2 + 4 3972 c.3793C>G c.(3793-3795)CGT>GGT p.R1265G HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1265 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTGGCCCCAGCGTAGTGAAAC 0.458000 HIST1H3F 8968 broad.mit.edu 37 6 26250489 26250489 + Silent SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:26250489G>C uc003nhg.1 - 1 347 c.345C>G c.(343-345)GCC>GCG p.A115A HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 115 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 TCACTCGCTTGGCGTGGATAG 0.587000 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HIST1H2AH 85235 broad.mit.edu 37 6 27115020 27115020 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:27115020G>A uc003niz.2 + 1 113 c.113G>A c.(112-114)GGT>GAT p.G38D HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 38 nucleosome assembly nucleosome|nucleus DNA binding 0 CTCCGCAAGGGTAATTATGCC 0.667000 ZNF311 282890 broad.mit.edu 37 6 28963343 28963343 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:28963343G>T uc003nlu.2 - 7 1949 c.1436C>A c.(1435-1437)GCC>GAC p.A479D ZNF311_uc011dlk.1_Missense_Mutation_p.A387D|ZNF311_uc003nlv.2_Missense_Mutation_p.A387D NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 479 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 ATGACGAAAGGCTTTCCCACA 0.493000 VARS2 57176 broad.mit.edu 37 6 30889025 30889025 + Silent SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:30889025G>C uc003nsc.1 + 16 2207 c.1575G>C c.(1573-1575)CGG>CGC p.R525R VARS2_uc011dmx.1_Silent_p.R525R|VARS2_uc011dmy.1_Silent_p.R385R|VARS2_uc011dmz.1_Silent_p.R555R|VARS2_uc011dna.1_Silent_p.R523R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 525 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 GTGTCTCCCGGCAGCTGTGGT 0.602000 UHRF1BP1 54887 broad.mit.edu 37 6 34802057 34802057 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:34802057C>G uc003oju.3 + 5 636 c.402C>G c.(400-402)ATC>ATG p.I134M UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 134 ovary(3) 3 CTATCACCATCAAGATTCACT 0.463000 MEP1A 4224 broad.mit.edu 37 6 46787351 46787351 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:46787351G>A uc010jzh.1 + 7 508 c.466G>A c.(466-468)GAG>AAG p.E156K MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.E184K|MEP1A_uc011dwi.1_Missense_Mutation_p.E56K NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 156 Extracellular (Potential).|Metalloprotease. By similarity. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) CATAGAACACGAGATCCTGCA 0.478000 GPR110 266977 broad.mit.edu 37 6 46996775 46996775 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:46996775A>G uc003oyt.2 - 2 222 c.23T>C c.(22-24)CTC>CCC p.L8P GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.L8P NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 8 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GAAAGAAATGAGCCACAGCAC 0.507000 PHF3 23469 broad.mit.edu 37 6 64410247 64410247 + Missense_Mutation SNP T T A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:64410247T>A uc003pep.1 + 8 3016 c.2990T>A c.(2989-2991)TTT>TAT p.F997Y PHF3_uc010kah.1_Missense_Mutation_p.F811Y|PHF3_uc003pen.2_Missense_Mutation_p.F909Y|PHF3_uc011dxs.1_Missense_Mutation_p.F266Y NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 997 TFIIS central. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CAGATATTATTTAAAAAAGTA 0.328000 FRK 2444 broad.mit.edu 37 6 116289790 116289790 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:116289790G>A uc003pwi.1 - 3 1026 c.579C>T c.(577-579)TAC>TAT p.Y193Y NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 193 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.Y193*(1) ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TTGTCTTGGTGTAGTGGCTCA 0.393000 GJA1 2697 broad.mit.edu 37 6 121768767 121768767 + Silent SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:121768767A>G uc003pyr.2 + 2 1024 c.774A>G c.(772-774)AAA>AAG p.K258K GJA1_uc011ebo.1_Silent_p.K159K|GJA1_uc011ebp.1_Silent_p.K46K NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 258 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) GCCCTGCCAAAGACTGTGGGT 0.517000 C6orf118 168090 broad.mit.edu 37 6 165693550 165693550 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr6:165693550C>G uc003qum.3 - 9 1442 c.1406G>C c.(1405-1407)AGA>ACA p.R469T NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 469 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TGAGCGTTATCTTCTGTTTCC 0.323000 SDK1 221935 broad.mit.edu 37 7 3991461 3991461 + Silent SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:3991461G>A uc003smx.2 + 7 1198 c.1059G>A c.(1057-1059)ACG>ACA p.T353T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 353 Ig-like C2-type 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCAACCCGACGTCCGCGGACA 0.617000 SP4 6671 broad.mit.edu 37 7 21470408 21470408 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:21470408G>T uc003sva.2 + 3 1806 c.1625G>T c.(1624-1626)GGT>GTT p.G542V SP4_uc003svb.2_Missense_Mutation_p.G229V NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 542 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GCCAACCTGGGTGCTGCAGGT 0.458000 DNAH11 8701 broad.mit.edu 37 7 21628890 21628890 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:21628890G>C uc003svc.2 + 12 2069 c.2038G>C c.(2038-2040)GAT>CAT p.D680H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 680 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CACTTTGCTTGATCAATTTGA 0.323000 Kartagener_syndrome AVL9 23080 broad.mit.edu 37 7 32599065 32599065 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:32599065A>G uc003tcv.1 + 10 1350 c.1204A>G c.(1204-1206)ATC>GTC p.I402V AVL9_uc011kai.1_Missense_Mutation_p.I402V|AVL9_uc010kwj.1_Missense_Mutation_p.I243V NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 402 integral to membrane 0 GCCCCTGGCCATCTTCACAAA 0.388000 DMTF1 9988 broad.mit.edu 37 7 86795810 86795810 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:86795810A>G uc003uih.2 + 4 447 c.121A>G c.(121-123)ATA>GTA p.I41V DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_5'UTR|DMTF1_uc003uik.2_Intron|DMTF1_uc003uil.2_Missense_Mutation_p.I41V|DMTF1_uc003uim.1_Missense_Mutation_p.I41V|DMTF1_uc003uin.2_5'UTR NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 41 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) AGCGGATGAAATAGACTCAGA 0.333000 SAMD9 54809 broad.mit.edu 37 7 92733244 92733244 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:92733244C>G uc003umf.2 - 3 2423 c.2167G>C c.(2167-2169)GAT>CAT p.D723H SAMD9_uc003umg.2_Missense_Mutation_p.D723H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 723 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTAGAAGAATCTGCACAGTTT 0.383000 TRRAP 8295 broad.mit.edu 37 7 98546232 98546232 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:98546232G>A uc003upp.2 + 34 4900 c.4691G>A c.(4690-4692)CGA>CAA p.R1564Q TRRAP_uc011kis.1_Missense_Mutation_p.R1546Q|TRRAP_uc003upr.2_Missense_Mutation_p.R1263Q NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1564 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTCCTGACTCGACATCCCTCG 0.532000 CYP3A43 64816 broad.mit.edu 37 7 99453307 99453307 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:99453307G>A uc003urx.1 + 8 867 c.764G>A c.(763-765)AGG>AAG p.R255K CYP3A43_uc003ury.1_Missense_Mutation_p.R255K|CYP3A43_uc003urz.1_Missense_Mutation_p.R255K|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.R145K|CYP3A43_uc003usb.1_Intron NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 255 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TCCATTGAAAGGATGAAAGAA 0.234000 FBXO24 26261 broad.mit.edu 37 7 100187902 100187902 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:100187902A>G uc003uvm.1 + 3 537 c.244A>G c.(244-246)ATC>GTC p.I82V FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.I82V|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.I120V|FBXO24_uc011kka.1_Missense_Mutation_p.I70V NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 82 F-box. 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) GTGGAGACGCATCTGTCGCAG 0.587000 MUC17 140453 broad.mit.edu 37 7 100677750 100677750 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:100677750C>G uc003uxp.1 + 3 3106 c.3053C>G c.(3052-3054)ACT>AGT p.T1018S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1018 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15. 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) ACCACTTCTACTGAAGCCAGT 0.517000 PSMC2 5701 broad.mit.edu 37 7 103004686 103004686 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:103004686G>C uc003vbs.2 + 8 758 c.688G>C c.(688-690)GCT>CCT p.A230P SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A93P NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 230 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|interspecies interaction between organisms|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 mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 GCGGGCAGTTGCTAATCGGAC 0.488000 RNF133 168433 broad.mit.edu 37 7 122338599 122338599 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:122338599C>T uc003vkj.1 - 1 610 c.374G>A c.(373-375)AGT>AAT p.S125N CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 125 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 GATCACTCCACTGGCTCCCTT 0.453000 OR2A2 442361 broad.mit.edu 37 7 143806809 143806809 + Missense_Mutation SNP T T G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr7:143806809T>G uc011ktz.1 + 1 134 c.134T>G c.(133-135)TTT>TGT p.F45C NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GGGGTCATCTTTGGGATTATC 0.512000 EFHA2 286097 broad.mit.edu 37 8 16935310 16935310 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:16935310G>C uc003wxd.2 + 4 628 c.586G>C c.(586-588)GCA>CCA p.A196P NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 196 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) TCAAATGCTCGCAGAAACACC 0.308000 XPO7 23039 broad.mit.edu 37 8 21856712 21856712 + Missense_Mutation SNP T T A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:21856712T>A uc003xaa.3 + 23 2641 c.2539T>A c.(2539-2541)TAC>AAC p.Y847N XPO7_uc010lti.2_Missense_Mutation_p.Y856N|XPO7_uc010ltk.2_Missense_Mutation_p.Y848N NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 847 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CAGTGGGAGTTACGTCAATTT 0.512000 XPO7 23039 broad.mit.edu 37 8 21856729 21856729 + Silent SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:21856729C>G uc003xaa.3 + 23 2658 c.2556C>G c.(2554-2556)GTC>GTG p.V852V XPO7_uc010lti.2_Silent_p.V861V|XPO7_uc010ltk.2_Silent_p.V853V NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 852 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) ATTTCGGAGTCTTTCGTCTCT 0.507000 CHRNA6 8973 broad.mit.edu 37 8 42611877 42611877 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:42611877C>G uc003xpj.2 - 5 511 c.465G>C c.(463-465)AAG>AAC p.K155N CHRNA6_uc011lcw.1_Missense_Mutation_p.K140N NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 155 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGCAGGAACTCTTAAAAATAG 0.398000 POTEA 340441 broad.mit.edu 37 8 43173685 43173685 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:43173685T>C uc003xpz.1 + 9 1150 c.1107T>C c.(1105-1107)GAT>GAC p.D369D POTEA_uc003xqa.1_Silent_p.D323D NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 369 ovary(1) 1 GCAATGGTGATGGTGGATTAG 0.408000 CA8 767 broad.mit.edu 37 8 61192289 61192289 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:61192289T>C uc003xtz.1 - 2 499 c.251A>G c.(250-252)AAT>AGT p.N84S CA8_uc003xua.1_Missense_Mutation_p.N84S|CA8_uc003xub.2_Missense_Mutation_p.N84S NM_004056 NP_004047 P35219 CAH8_HUMAN carbonic anhydrase VIII 84 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) ATGTCCATCATTGGTGACTTC 0.423000 CRISPLD1 83690 broad.mit.edu 37 8 75898238 75898238 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:75898238C>T uc003yan.2 + 2 391 c.16C>T c.(16-18)CGG>TGG p.R6W NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 6 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GTGTACCGCGCGGGAGTGGCT 0.458000 ZFHX4 79776 broad.mit.edu 37 8 77690516 77690516 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:77690516A>G uc003yav.2 + 4 3475 c.3088A>G c.(3088-3090)ACC>GCC p.T1030A ZFHX4_uc003yau.1_Missense_Mutation_p.T1056A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1030A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1030 C2H2-type 7. 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) TGATTACACCACCAAGGTCAA 0.527000 HNSCC(33;0.089) KLF10 7071 broad.mit.edu 37 8 103663556 103663556 + Missense_Mutation SNP C C T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr8:103663556C>T uc011lhk.1 - 3 1158 c.1004G>A c.(1003-1005)AGC>AAC p.S335N KLF10_uc011lhj.1_Missense_Mutation_p.S324N NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 335 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) GCCATTCGGGCTCACCACCGG 0.552000 TMC1 117531 broad.mit.edu 37 9 75404223 75404223 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:75404223A>G uc004aiz.1 + 15 1754 c.1214A>G c.(1213-1215)GAA>GGA p.E405G TMC1_uc010moz.1_Missense_Mutation_p.E363G|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.E259G|TMC1_uc010mpa.1_Missense_Mutation_p.E259G NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 405 Extracellular (Potential). sensory perception of sound integral to membrane ovary(1) 1 GGGTGGTGGGAAAAAAATGAA 0.428000 ROR2 4920 broad.mit.edu 37 9 94488878 94488878 + Missense_Mutation SNP A A G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:94488878A>G uc004arj.1 - 8 1530 c.1331T>C c.(1330-1332)CTG>CCG p.L444P ROR2_uc004ari.1_Missense_Mutation_p.L304P|ROR2_uc004ark.2_Nonstop_Mutation_p.*433R NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 444 Cytoplasmic (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CGAGGCCATCAGCTGTCGCCG 0.537000 OR13C8 138802 broad.mit.edu 37 9 107332054 107332054 + Silent SNP G G A rs146773946 TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:107332054G>A uc011lvo.1 + 1 606 c.606G>A c.(604-606)TCG>TCA p.S202S NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGACAGGGTCGAATCTGATTG 0.348000 C9orf84 158401 broad.mit.edu 37 9 114462308 114462308 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:114462308T>C uc004bfr.2 - 22 3052 c.2917A>G c.(2917-2919)ACA>GCA p.T973A C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.T934A|C9orf84_uc010mug.2_Missense_Mutation_p.T884A NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 973 ovary(2) 2 TGATGAAGTGTCTTTTCTGTA 0.294000 PAPPA 5069 broad.mit.edu 37 9 119065080 119065080 + Missense_Mutation SNP G G C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:119065080G>C uc004bjn.2 + 10 3379 c.2998G>C c.(2998-3000)GAG>CAG p.E1000Q PAPPA_uc011lxp.1_Missense_Mutation_p.E695Q|PAPPA_uc011lxq.1_Missense_Mutation_p.E375Q NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1000 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGGGGTATGTGAGGAGTTTGA 0.438000 CERCAM 51148 broad.mit.edu 37 9 131185501 131185501 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:131185501G>A uc004buz.3 + 3 783 c.385G>A c.(385-387)GCC>ACC p.A129T CERCAM_uc004buy.1_Missense_Mutation_p.A51T|CERCAM_uc010mxz.2_Missense_Mutation_p.A51T|CERCAM_uc010mya.1_5'Flank NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 129 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 GAAGCAGGAAGCCCTCACCTT 0.537000 POMT1 10585 broad.mit.edu 37 9 134386796 134386796 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr9:134386796G>A uc004cav.2 + 10 1196 c.994G>A c.(994-996)GTC>ATC p.V332I POMT1_uc004cax.2_Missense_Mutation_p.V310I|POMT1_uc011mcj.1_Missense_Mutation_p.V88I|POMT1_uc004cau.2_Missense_Mutation_p.V310I|POMT1_uc004caw.2_Missense_Mutation_p.V256I|POMT1_uc011mck.1_Missense_Mutation_p.V193I|POMT1_uc011mcl.1_Missense_Mutation_p.V158I|POMT1_uc011mcm.1_Missense_Mutation_p.V280I|POMT1_uc011mcn.1_Missense_Mutation_p.V35I NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 332 MIR 1. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TCTGAGGAACGTCTTTGGGAA 0.502000 MID1 4281 broad.mit.edu 37 X 10535579 10535579 + Silent SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrX:10535579T>C uc004cte.3 - 2 200 c.9A>G c.(7-9)ACA>ACG p.T3T MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Silent_p.T3T|MID1_uc004cth.3_Silent_p.T3T|MID1_uc004ctk.3_Silent_p.T3T|MID1_uc004cti.3_Silent_p.T3T|MID1_uc004ctj.3_Silent_p.T3T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.T3T|MID1_uc004ctn.1_Silent_p.T3T|MID1_uc004cto.1_Silent_p.T3T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Silent_p.T3T|MID1_uc004ctu.2_Silent_p.T3T|MID1_uc004ctv.2_Silent_p.T3T|MID1_uc004ctw.2_Silent_p.T3T|MID1_uc010ndy.1_Silent_p.T3T|uc010ndz.1_5'Flank|MID1_uc004cty.2_Silent_p.T3T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Silent_p.T3T|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Silent_p.T3T|MID1_uc004cud.1_Silent_p.T3T|MID1_uc004cue.1_Silent_p.T3T|MID1_uc004cuf.1_Silent_p.T3T|MID1_uc004cug.1_Silent_p.T3T NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 3 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 CTGACTCCAGTGTTTCCATCT 0.502000 WNK3 65267 broad.mit.edu 37 X 54324757 54324757 + Missense_Mutation SNP C C G TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrX:54324757C>G uc004dtd.1 - 7 1688 c.1249G>C c.(1249-1251)GAA>CAA p.E417Q WNK3_uc004dtc.1_Missense_Mutation_p.E417Q NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 417 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TCATCTTCTTCTGCTAACTCC 0.363000 ZBTB33 10009 broad.mit.edu 37 X 119387473 119387473 + Missense_Mutation SNP T T C TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrX:119387473T>C uc004esn.1 + 2 431 c.203T>C c.(202-204)GTT>GCT p.V68A ZBTB33_uc010nqm.1_Missense_Mutation_p.V68A NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 68 BTB.|Self-association (By similarity).|Interaction with NCOR1. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GGGCAAGTTGTTGAACTGAGC 0.378000 MBNL3 55796 broad.mit.edu 37 X 131540373 131540373 + Missense_Mutation SNP G G T TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrX:131540373G>T uc004ewv.3 - 2 304 c.225C>A c.(223-225)CAC>CAA p.H75Q uc004ewr.1_Intron|MBNL3_uc004eww.2_5'UTR|MBNL3_uc010nrl.1_RNA|MBNL3_uc004ews.2_5'UTR|MBNL3_uc004ewt.2_Missense_Mutation_p.H25Q|MBNL3_uc011muz.1_5'UTR|MBNL3_uc004ewu.3_Missense_Mutation_p.H75Q|MBNL3_uc004ewx.1_Missense_Mutation_p.H25Q NM_018388 NP_060858 Q9NUK0 MBNL3_HUMAN muscleblind-like 3 isoform G 75 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) GCGTTTTTAAGTGTGGAGGAG 0.443000 MAGEA4 4103 broad.mit.edu 37 X 151092840 151092840 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrX:151092840G>A uc004fez.2 + 3 860 c.704G>A c.(703-705)AGG>AAG p.R235K MAGEA4_uc004ffa.2_Missense_Mutation_p.R235K|MAGEA4_uc004ffb.2_Missense_Mutation_p.R235K|MAGEA4_uc004ffc.2_Missense_Mutation_p.R235K|MAGEA4_uc004ffd.2_Missense_Mutation_p.R235K NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 235 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TATGATGGGAGGGAGCACACT 0.572000 PCDH11Y 83259 broad.mit.edu 37 Y 4925229 4925229 + Missense_Mutation SNP G G A TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrY:4925229G>A uc004fqo.2 + 1 1099 c.365G>A c.(364-366)CGC>CAC p.R122H PCDH11Y_uc010nwg.1_Missense_Mutation_p.R111H|PCDH11Y_uc004fql.1_Missense_Mutation_p.R111H|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R111H|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R122H NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 122 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 ACCGGCGCTCGCATTGATCGT 0.443000 PEX11G 92960 broad.mit.edu 37 19 7542209 7542209 + Frame_Shift_Del DEL C C - TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr19:7542209delC uc002mgk.1 - 5 614 c.605delG c.(604-606)GGCfs p.G202fs PEX11G_uc002mgl.1_Frame_Shift_Del_p.G132fs NM_080662 NP_542393 Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma 202 Lumenal (Potential). integral to membrane|peroxisomal membrane 0 CCACAGCACGCCCCGGGGCAG 0.711 CTNNA1 1495 broad.mit.edu 37 5 138264953 138264966 + Frame_Shift_Del DEL GACTCTGACTTTGA GACTCTGACTTTGA - TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr5:138264952_138264965TGACTCTGACTTTGA>T uc003ldh.3 + 13 2012_2025 c.1917_1930TGACTCTGACTTTGA>T c.(1915-1932)gatgactctgactttgagfs p.D639fs CTNNA1_uc011cyx.2_Frame_Shift_Del_p.D536fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.D516fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.D337fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.D639fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.D269fs NM_001903 NP_001894 P35221 CTNA1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA. 639 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGGAGTTGGATGACTCTGACTTTGAGACAGAAGA 0.579 MAB21L1 4081 broad.mit.edu 37 13 36049858 36049870 + Frame_Shift_Del DEL CCGCTTGAGCCAC CCGCTTGAGCCAC - rs148963167 TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr13:36049857_36049869ACCGCTTGAGCCAC>A uc001uvc.3 - 1 989_1001 c.407_419GTGGCTCAAGCGGT>T c.(406-420)gtggctcaagcggtafs p.V136fs NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA. 136 anatomical structure morphogenesis nucleus p.V136L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ACATTTGTCTACCGCTTGAGCCACCAGCGTCTG 0.577 KIAA0430 9665 broad.mit.edu 37 16 15719522 15719528 + Frame_Shift_Del DEL GGAGAAT GGAGAAT - TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chr16:15719521_15719527CGGAGAAT>C uc002ddr.3 - 7 1862_1868 c.1655_1661ATTCTCCG>G c.(1654-1662)attctccgcfs p.I552fs KIAA0430_uc002ddq.3_Intron|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.I549fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.I551fs NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 551 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GTTTATGAAGCGGAGAATTGCACTGCA 0.459 AMOT 154796 broad.mit.edu 37 X 112058613 112058629 + Frame_Shift_Del DEL GCATCCTTCCAACTCTT GCATCCTTCCAACTCTT - TCGA-CG-5717-01A-11D-1600-08 TCGA-CG-5717-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0deb62f-0473-47f1-8ee2-03c8fbc96c90 456e4a1c-0b69-4e93-900d-345ef80765c5 g.chrX:112058612_112058628AGCATCCTTCCAACTCTT>A uc004epr.3 - 1 1368_1384 c.1350_1366AAGAGTTGGAAGGATGCT>T c.(1348-1368)caagagttggaaggatgctatfs p.Q450fs AMOT_uc004eps.3_Frame_Shift_Del_p.Q41fs|AMOT_uc004ept.1_Frame_Shift_Del_p.Q450fs NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 450 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.G45*(1)|p.R451*(1)|p.G454*(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 ACCTTCTCATAGCATCCTTCCAACTCTTGCCTCAAGT 0.465