Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter MXRA8 54587 broad.mit.edu 37 1 1290419 1290419 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:1290419C>T uc001aew.2 - 5 623 c.592G>A c.(592-594)GTG>ATG p.V198M MXRA8_uc001aex.3_Missense_Mutation_p.V198M|MXRA8_uc001aey.3_Missense_Mutation_p.V198M|MXRA8_uc010nyl.1_Missense_Mutation_p.V198M|MXRA8_uc001aez.2_Missense_Mutation_p.V97M|MXRA8_uc001afa.2_Missense_Mutation_p.V189M NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 198 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCTCCTCCACGTGCCGGTCG 0.726 3 21 --- --- --- --- PASS C1orf174 339448 broad.mit.edu 37 1 3806599 3806599 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:3806599G>A uc001alf.2 - 4 764 c.657C>T c.(655-657)AGC>AGT p.S219S C1orf174_uc009vls.2_RNA NM_207356 NP_997239 Q8IYL3 CA174_HUMAN hypothetical protein LOC339448 219 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) ACTCTCGTCTGCTCATTGAAG 0.373 17 107 --- --- --- --- PASS NPHP4 261734 broad.mit.edu 37 1 6007263 6007263 + Missense_Mutation SNP T A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:6007263T>A uc001alq.1 - 9 1286 c.1020A>T c.(1018-1020)AGA>AGT p.R340S NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 340 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGCGGCTTCTCAAAACCA 0.597 12 93 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10434995 10434995 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:10434995G>T uc001aqx.3 + 47 5382 c.5180G>T c.(5179-5181)CGG>CTG p.R1727L KIF1B_uc001aqw.3_Missense_Mutation_p.R1681L|KIF1B_uc001aqy.2_Missense_Mutation_p.R1701L|KIF1B_uc001aqz.2_Missense_Mutation_p.R1727L|KIF1B_uc001ara.2_Missense_Mutation_p.R1687L|KIF1B_uc001arb.2_Missense_Mutation_p.R1713L NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1727 PH. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GTCGTCCGTCGGCCTTATGTC 0.463 13 172 --- --- --- --- PASS CCDC21 64793 broad.mit.edu 37 1 26595018 26595018 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:26595018C>T uc001bls.1 + 8 1517 c.1386C>T c.(1384-1386)TGC>TGT p.C462C CCDC21_uc001blr.2_Silent_p.C462C|CCDC21_uc010ofa.1_Silent_p.C411C|CCDC21_uc001blt.1_5'Flank NM_022778 NP_073615 Q6P2H3 CEP85_HUMAN coiled-coil domain containing 21 462 Potential. centrosome|nucleolus|spindle pole 0 all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649) AAAAGAAATGCCAGAAGGAAT 0.453 4 78 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37271748 37271748 + Silent SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:37271748C>A uc001caz.2 - 14 2406 c.2271G>T c.(2269-2271)GGG>GGT p.G757G GRIK3_uc001cba.1_Silent_p.G757G NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 757 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CAATGAGGCCCCCGATCTGGG 0.662 8 100 --- --- --- --- PASS SYDE2 84144 broad.mit.edu 37 1 85648044 85648044 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:85648044G>A uc009wcm.2 - 3 2330 c.2281C>T c.(2281-2283)CAT>TAT p.H761Y SYDE2_uc001dku.3_Missense_Mutation_p.H761Y NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 761 C2. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) ACAGTTCCATGACAACAAACT 0.373 5 87 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104114878 104114878 + Silent SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:104114878G>T uc001duq.2 + 4 931 c.315G>T c.(313-315)GGG>GGT p.G105G AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.G105G NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 105 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) ACAATGTTGGGGTAAGTGAAT 0.333 23 228 --- --- --- --- PASS FNDC7 163479 broad.mit.edu 37 1 109265069 109265069 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:109265069C>T uc001dvx.2 + 5 711 c.711C>T c.(709-711)AGC>AGT p.S237S FNDC7_uc010ova.1_Silent_p.S4S NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 238 Fibronectin type-III 3. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TGGCTTTGAGCGACTCTTCAG 0.458 14 94 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152057765 152057765 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:152057765G>A uc001ezo.1 - 3 2458 c.2393C>T c.(2392-2394)TCC>TTC p.S798F NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 798 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TAGTGGACTGGAATAGACTGC 0.488 55 299 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187673 152187673 + Silent SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:152187673A>G uc001ezt.1 - 3 6508 c.6432T>C c.(6430-6432)TCT>TCC p.S2144S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2144 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTCACCCCTAGATGACTGTC 0.582 9 747 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156497786 156497786 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:156497786C>A uc001fpf.2 - 37 4815 c.4740G>T c.(4738-4740)AAG>AAT p.K1580N NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1580 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) CACCCAGGAACTTGGCATTTA 0.517 10 102 --- --- --- --- PASS PEAR1 375033 broad.mit.edu 37 1 156875138 156875138 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:156875138C>A uc001fqj.1 + 4 345 c.229C>A c.(229-231)CGT>AGT p.R77S PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 77 EMI. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GACCGTGTACCGTCAGGTGGT 0.657 5 38 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169541473 169541473 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:169541473C>G uc001ggg.1 - 3 504 c.359G>C c.(358-360)AGT>ACT p.S120T F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 120 F5/8 type A 1.|Plastocyanin-like 1. 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) TGATAATTTACTGTACCTAAT 0.333 8 67 --- --- --- --- PASS TOR1AIP1 26092 broad.mit.edu 37 1 179858470 179858470 + Missense_Mutation SNP G C C rs146164995 byFrequency TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:179858470G>C uc001gnq.2 + 3 794 c.576G>C c.(574-576)AGG>AGC p.R192S TOR1AIP1_uc001gnp.1_Missense_Mutation_p.R193S NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 192 Nuclear (Potential). integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 TTGTAATCAGGTTACGTCGAC 0.308 6 253 --- --- --- --- PASS ATP2B4 493 broad.mit.edu 37 1 203691776 203691776 + Missense_Mutation SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:203691776A>G uc001gzw.2 + 18 3867 c.2983A>G c.(2983-2985)ATT>GTT p.I995V ATP2B4_uc001gzv.2_Missense_Mutation_p.I995V|ATP2B4_uc009xaq.2_Missense_Mutation_p.I995V|ATP2B4_uc001gzx.2_Missense_Mutation_p.I26V|ATP2B4_uc009xar.2_Missense_Mutation_p.I26V NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 995 Helical; (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CTACCGCAACATTATCTTCTG 0.463 19 123 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233137365 233137365 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:233137365C>A uc001hvl.2 - 29 5250 c.5015G>T c.(5014-5016)CGT>CTT p.R1672L PCNXL2_uc001hvk.1_Missense_Mutation_p.R324L|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1672 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CCACTCGTCACGTGCTGTTAT 0.418 3 17 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237666632 237666632 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:237666632C>T uc001hyl.1 + 22 2560 c.2440C>T c.(2440-2442)CTT>TTT p.L814F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 814 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTCAAATTTCTTCCTCCACC 0.413 5 49 --- --- --- --- PASS OR2M4 26245 broad.mit.edu 37 1 248402321 248402321 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr1:248402321G>T uc010pzh.1 + 1 91 c.91G>T c.(91-93)GTC>TTC p.V31F NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTTTCTCTGGTCCTGGGCAT 0.473 32 240 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15470749 15470749 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:15470749C>A uc002rcc.1 - 36 4346 c.4320G>T c.(4318-4320)AAG>AAT p.K1440N NBAS_uc010exl.1_Missense_Mutation_p.K512N|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1440 ovary(2)|liver(1)|skin(1) 4 AAGTTAAAGACTTCTTCCACC 0.453 10 94 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31624177 31624177 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:31624177G>T uc002rnv.1 - 4 294 c.215C>A c.(214-216)GCC>GAC p.A72D NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 72 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGCCAGGCAGGCATTGGCAGA 0.507 14 77 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808989 48808989 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:48808989C>A uc010yol.1 + 1 1264 c.1217C>A c.(1216-1218)CCA>CAA p.P406Q STON1_uc002rwo.3_Missense_Mutation_p.P406Q|STON1_uc010fbm.2_Missense_Mutation_p.P406Q|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P406Q|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P406Q NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 406 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTTCAAAACCAAAAAAGAAC 0.423 25 160 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49381457 49381457 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:49381457C>T uc002rww.2 - 1 174 c.100G>A c.(100-102)GAG>AAG p.E34K FSHR_uc002rwx.2_Missense_Mutation_p.E34K|FSHR_uc010fbn.2_Missense_Mutation_p.E34K|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 34 LRRNT.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACCTTGCTCTCTTGGCAGAGA 0.522 Gonadal_Dysgenesis_46_XX 6 90 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98409416 98409416 + Missense_Mutation SNP T A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:98409416T>A uc002syh.3 - 31 3806 c.3577A>T c.(3577-3579)AGT>TGT p.S1193C NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1193 integral to membrane ovary(4)|central_nervous_system(2) 6 AACCCCCTACTGTGACCGGGG 0.498 5 24 --- --- --- --- PASS IL1R2 7850 broad.mit.edu 37 2 102626181 102626181 + Silent SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:102626181T>C uc002tbm.2 + 3 454 c.225T>C c.(223-225)GCT>GCC p.A75A IL1R2_uc002tbn.2_Silent_p.A75A|IL1R2_uc002tbo.1_Silent_p.A75A NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 75 Extracellular (Potential).|Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) ATGACTCTGCTAGGACGGTCC 0.607 55 387 --- --- --- --- PASS GPR45 11250 broad.mit.edu 37 2 105859092 105859092 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:105859092G>A uc002tco.1 + 1 893 c.777G>A c.(775-777)TTG>TTA p.L259L NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 259 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GCGTGGACTTGAGCTTCAAGA 0.642 42 258 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167322348 167322348 + Nonsense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:167322348G>A uc002udu.1 - 7 941 c.814C>T c.(814-816)CAA>TAA p.Q272* SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 272 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TCATTCTCTTGGGGCCATCGA 0.378 23 213 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170058365 170058365 + Nonsense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:170058365G>T uc002ues.2 - 44 8438 c.8225C>A c.(8224-8226)TCA>TAA p.S2742* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2742 Extracellular (Potential).|LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCTGTCGGTGAGCAGGTGTG 0.413 13 112 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098966 178098966 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:178098966C>G uc002ulh.3 - 2 634 c.79G>C c.(79-81)GAT>CAT p.D27H NFE2L2_uc002ulg.3_Missense_Mutation_p.D11H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D11H|NFE2L2_uc002uli.3_Missense_Mutation_p.D11H|NFE2L2_uc010fra.2_Missense_Mutation_p.D11H|NFE2L2_uc010frb.2_Missense_Mutation_p.D11H NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 27 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AGATCTATATCTTGCCTCCAA 0.353 Mis NSCLC|HNSCC HNSCC(56;0.16) 10 101 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098973 178098973 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:178098973C>G uc002ulh.3 - 2 627 c.72G>C c.(70-72)TGG>TGC p.W24C NFE2L2_uc002ulg.3_Missense_Mutation_p.W8C|NFE2L2_uc010zfa.1_Missense_Mutation_p.W8C|NFE2L2_uc002uli.3_Missense_Mutation_p.W8C|NFE2L2_uc010fra.2_Missense_Mutation_p.W8C|NFE2L2_uc010frb.2_Missense_Mutation_p.W8C NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 24 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TATCTTGCCTCCAAAGTATGT 0.348 Mis NSCLC|HNSCC HNSCC(56;0.16) 10 101 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179424877 179424877 + Missense_Mutation SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:179424877A>G uc010zfg.1 - 275 78502 c.78278T>C c.(78277-78279)GTG>GCG p.V26093A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V19788A|TTN_uc010zfi.1_Missense_Mutation_p.V19721A|TTN_uc010zfj.1_Missense_Mutation_p.V19596A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27020 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) GCCTGAGTCCACAATTTTGGG 0.448 21 178 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179606351 179606351 + Missense_Mutation SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:179606351A>G uc010zfh.1 - 46 11320 c.11096T>C c.(11095-11097)TTT>TCT p.F3699S TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.F3632S|TTN_uc010zfj.1_Missense_Mutation_p.F3507S|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCACCGTCAAAAACAAATTT 0.403 29 178 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179621470 179621470 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:179621470G>A uc010zfh.1 - 44 10444 c.10220C>T c.(10219-10221)TCC>TTC p.S3407F TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTGCCTGGGACTTGGCGGA 0.383 16 118 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196688978 196688978 + Splice_Site SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:196688978C>T uc002utj.3 - 49 9392 c.9291_splice c.e49+1 p.K3097_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TATATACTGGCCTTTACTGAT 0.358 19 145 --- --- --- --- PASS MYL1 4632 broad.mit.edu 37 2 211163151 211163151 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:211163151G>T uc002vec.2 - 3 426 c.297C>A c.(295-297)AGC>AGA p.S99R MYL1_uc002veb.2_Missense_Mutation_p.S55R NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 99 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TACCTTCATTGCTGGGGTTTC 0.383 21 194 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230678590 230678590 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr2:230678590T>C uc002vpw.1 - 12 1947 c.1838A>G c.(1837-1839)CAT>CGT p.H613R TRIP12_uc002vpx.1_Missense_Mutation_p.H661R|TRIP12_uc002vpy.1_Missense_Mutation_p.H316R|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.H619R NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 613 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTTTACCTGATGTGTTAGCCT 0.279 12 86 --- --- --- --- PASS TTLL3 26140 broad.mit.edu 37 3 9859359 9859359 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:9859359C>T uc003btg.2 + 5 562 c.346C>T c.(346-348)CCG>TCG p.P116S ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.P116S|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.P52S|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.P52S|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 116 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) CCGGAATTTGCCGTGGTTTGA 0.547 5 321 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19295336 19295336 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:19295336G>A uc003cbk.1 + 2 462 c.267G>A c.(265-267)GAG>GAA p.E89E KCNH8_uc011awe.1_Silent_p.E89E|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 89 Cytoplasmic (Potential).|PAS. integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CACTGGAGGAGAAAACAGAAT 0.418 24 224 --- --- --- --- PASS SACM1L 22908 broad.mit.edu 37 3 45781107 45781107 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:45781107C>T uc003cos.2 + 19 1802 c.1598C>T c.(1597-1599)TCA>TTA p.S533L SACM1L_uc011bag.1_Missense_Mutation_p.S430L|SACM1L_uc011bah.1_Missense_Mutation_p.S467L|SACM1L_uc003cot.2_Missense_Mutation_p.S176L NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN suppressor of actin 1 533 Helical; (Potential). Golgi apparatus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GTTGCCTTTTCAATGTGCATT 0.353 44 318 --- --- --- --- PASS HYAL3 8372 broad.mit.edu 37 3 50332932 50332932 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:50332932C>T uc003czd.1 - 2 375 c.102G>A c.(100-102)CTG>CTA p.L34L HYAL3_uc003czc.1_Silent_p.L34L|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Silent_p.L34L NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 34 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GTACATTCCACAGCACAGAGA 0.627 20 90 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108147461 108147461 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:108147461C>G uc003dxa.1 - 28 3697 c.3640G>C c.(3640-3642)GAG>CAG p.E1214Q NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1214 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CCCTCGAGCTCAGCCAGGCTG 0.493 32 226 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108276190 108276190 + Silent SNP C A A rs62638702 byFrequency TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:108276190C>A uc003dxb.3 - 17 2354 c.2085G>T c.(2083-2085)GCG>GCT p.A695A NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 695 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 CAACTTGCTGCGCCTTCAGCA 0.388 3 162 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109052761 109052761 + Nonsense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:109052761G>T uc003dxq.3 - 2 189 c.134C>A c.(133-135)TCA>TAA p.S45* DPPA4_uc011bho.1_Nonsense_Mutation_p.S45*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.S45* NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 45 nucleus protein binding upper_aerodigestive_tract(1) 1 TCTCTTTGCTGATGTTCCTGG 0.458 36 231 --- --- --- --- PASS KLF15 28999 broad.mit.edu 37 3 126062578 126062578 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:126062578C>T uc011bkk.1 - 3 1425 c.1243G>A c.(1243-1245)GTG>ATG p.V415M NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 415 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) TTTCAGTTCACGGAGCGCACG 0.597 9 106 --- --- --- --- PASS RAB6B 51560 broad.mit.edu 37 3 133560150 133560150 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:133560150C>T uc003epy.2 - 4 649 c.268G>A c.(268-270)GTG>ATG p.V90M RAB6B_uc011blu.1_Missense_Mutation_p.V77M NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 90 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 TACACCACCACAGCCACCGTG 0.637 43 122 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136221539 136221539 + Silent SNP G A A rs113504457 byFrequency TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr3:136221539G>A uc003era.1 - 8 1051 c.759C>T c.(757-759)GCC>GCT p.A253A STAG1_uc003erb.1_Silent_p.A253A|STAG1_uc003erc.1_Silent_p.A27A|STAG1_uc010hua.1_Silent_p.A116A|STAG1_uc003erd.2_Silent_p.A156A NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 253 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TATTTCTCTCGGCTTCATATT 0.383 17 264 --- --- --- --- PASS WDR1 9948 broad.mit.edu 37 4 10080565 10080565 + Nonsense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:10080565C>A uc003gmf.2 - 12 1628 c.1345G>T c.(1345-1347)GAA>TAA p.E449* WDR1_uc003gmg.2_Nonsense_Mutation_p.E309*|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 449 WD 8. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) GCCACAACTTCGGGCTCGTAG 0.612 7 79 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22414850 22414850 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:22414850G>A uc003gqm.1 - 14 2452 c.2187C>T c.(2185-2187)ATC>ATT p.I729I GPR125_uc010ieo.1_Silent_p.I585I NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 729 Extracellular (Potential).|GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) GAATCGTAGTGATATTTTCAT 0.413 27 391 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66270100 66270100 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:66270100G>A uc003hcy.2 - 8 1975 c.1782C>T c.(1780-1782)CTC>CTT p.L594L EPHA5_uc003hcx.2_Silent_p.L526L|EPHA5_uc003hcz.2_Silent_p.L594L|EPHA5_uc011cah.1_Silent_p.L595L|EPHA5_uc011cai.1_Silent_p.L595L|EPHA5_uc003hda.2_Silent_p.L595L NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 594 Helical; (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ACCTTCCACTGAGGAGGACGC 0.488 TSP Lung(17;0.13) 18 97 --- --- --- --- PASS UGT2B7 7364 broad.mit.edu 37 4 69974002 69974002 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:69974002C>A uc003heg.3 + 5 1318 c.1272C>A c.(1270-1272)GAC>GAA p.D424E UGT2B7_uc010ihq.2_Intron NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 424 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CGAGTACAGACTTGCTGAATG 0.413 9 290 --- --- --- --- PASS HERC5 51191 broad.mit.edu 37 4 89425483 89425483 + Missense_Mutation SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:89425483G>C uc003hrt.2 + 21 2836 c.2683G>C c.(2683-2685)GAC>CAC p.D895H HERC5_uc011cdm.1_Missense_Mutation_p.D533H NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 895 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GTGCGACGAAGACATTATCAA 0.338 11 182 --- --- --- --- PASS ARHGEF38 54848 broad.mit.edu 37 4 106510544 106510544 + Silent SNP T C C rs146153509 TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:106510544T>C uc003hxu.2 + 2 482 c.336T>C c.(334-336)GAT>GAC p.D112D NM_017700 NP_060170 Q9NXL2 ARH38_HUMAN hypothetical protein LOC54848 112 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|breast(1) 3 ATCTCAATGATCTAGAGCTGT 0.378 27 183 --- --- --- --- PASS SLC25A31 83447 broad.mit.edu 37 4 128685437 128685437 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:128685437G>T uc003ifl.2 + 3 546 c.400G>T c.(400-402)GCT>TCT p.A134S NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 134 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 TTCTGGTGGAGCTGCTGGGGC 0.378 4 160 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134084389 134084389 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:134084389G>A uc003iha.2 + 4 3881 c.3055G>A c.(3055-3057)GAT>AAT p.D1019N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 1019 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAAGGAGCTGGATGGACTGCT 0.498 42 331 --- --- --- --- PASS INPP4B 8821 broad.mit.edu 37 4 143350346 143350346 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:143350346G>T uc003iix.3 - 6 711 c.116C>A c.(115-117)CCG>CAG p.P39Q INPP4B_uc003iiw.3_Missense_Mutation_p.P39Q|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 39 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TTCCAACTGCGGTTCATTTGG 0.274 5 35 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169300557 169300557 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:169300557G>A uc003irq.3 - 32 4541 c.4320C>T c.(4318-4320)CTC>CTT p.L1440L NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1440 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GGCCTCTCTTGAGAAAATTTA 0.353 6 121 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924186 188924186 + Nonsense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr4:188924186C>A uc003izg.1 + 3 470 c.225C>A c.(223-225)TGC>TGA p.C75* ZFP42_uc003izh.1_Nonsense_Mutation_p.C75*|ZFP42_uc003izi.1_Nonsense_Mutation_p.C75* NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 75 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ACATAGAATGCGTCATAAGGG 0.483 10 112 --- --- --- --- PASS ROPN1L 83853 broad.mit.edu 37 5 10465045 10465045 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr5:10465045G>T uc003jex.3 + 5 950 c.679G>T c.(679-681)GAT>TAT p.D227Y NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 227 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 AAACTCTGAAGATGTAGGCCA 0.363 28 176 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257020 63257020 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr5:63257020C>A uc011cqt.1 - 1 527 c.527G>T c.(526-528)CGC>CTC p.R176L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 176 Helical; Name=4; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTCCGGGGTGCGCCAGCCCAG 0.597 42 195 --- --- --- --- PASS CAST 831 broad.mit.edu 37 5 96083050 96083050 + Missense_Mutation SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr5:96083050A>G uc003klz.1 + 16 1199 c.1037A>G c.(1036-1038)GAT>GGT p.D346G CAST_uc003klt.2_Missense_Mutation_p.D333G|CAST_uc003klu.2_Missense_Mutation_p.D429G|CAST_uc003klv.2_Missense_Mutation_p.D407G|CAST_uc003klw.2_Missense_Mutation_p.D410G|CAST_uc003klx.2_Missense_Mutation_p.D388G|CAST_uc003kly.2_Missense_Mutation_p.D394G|CAST_uc011cuo.1_Missense_Mutation_p.D392G|CAST_uc011cuq.1_Missense_Mutation_p.D194G|CAST_uc011cur.1_Missense_Mutation_p.D332G|CAST_uc011cus.1_Missense_Mutation_p.D333G|CAST_uc003kma.1_Missense_Mutation_p.D305G|CAST_uc011cut.1_Missense_Mutation_p.D274G|CAST_uc003kmb.2_Missense_Mutation_p.D292G|CAST_uc003kmc.2_Missense_Mutation_p.D346G|CAST_uc003kmd.2_Missense_Mutation_p.D324G|CAST_uc003kme.2_Missense_Mutation_p.D305G|CAST_uc003kmf.2_Missense_Mutation_p.D311G|CAST_uc003kmh.2_Missense_Mutation_p.D61G|CAST_uc010jbj.2_Missense_Mutation_p.D61G|CAST_uc010jbk.2_Missense_Mutation_p.D61G|CAST_uc010jbl.1_Missense_Mutation_p.D69G|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.D69G NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 346 Inhibitory domain 2. calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) CATTTACAGGATAAAGATGGA 0.313 18 80 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167125 140167125 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr5:140167125G>A uc003lhb.2 + 1 1250 c.1250G>A c.(1249-1251)AGC>AAC p.S417N PCDHA1_uc003lha.2_Missense_Mutation_p.S417N|PCDHA1_uc003lgz.2_Missense_Mutation_p.S417N NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 417 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCGCGAGAGCCTGTCGGTC 0.627 11 189 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169111316 169111316 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr5:169111316C>T uc003maf.2 + 8 803 c.723C>T c.(721-723)TTC>TTT p.F241F DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 241 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGAGCTCTTCATGTCTCTCT 0.483 5 243 --- --- --- --- PASS RPL26L1 51121 broad.mit.edu 37 5 172396424 172396424 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr5:172396424C>T uc003mcc.2 + 4 360 c.318C>T c.(316-318)ATC>ATT p.I106I NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 106 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGTGGTTATCACCAGGCTAA 0.398 25 157 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6305716 6305716 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:6305716C>A uc003mwv.2 - 3 310 c.187G>T c.(187-189)GTG>TTG p.V63L F13A1_uc011dib.1_Intron NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 63 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGGTGGTCCACCTTGTTAGTG 0.433 15 165 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6305717 6305717 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:6305717C>A uc003mwv.2 - 3 309 c.186G>T c.(184-186)AAG>AAT p.K62N F13A1_uc011dib.1_Intron NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 62 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGTGGTCCACCTTGTTAGTGT 0.428 16 165 --- --- --- --- PASS RUNX2 860 broad.mit.edu 37 6 45480107 45480107 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:45480107G>A uc011dvx.1 + 7 1194 c.984G>A c.(982-984)GGG>GGA p.G328G RUNX2_uc011dvy.1_Silent_p.G328G|RUNX2_uc003oxt.2_Silent_p.G314G NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 328 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 GGGGCACTGGGCTTCCTGCCA 0.597 12 135 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47846506 47846506 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:47846506C>T uc011dwm.1 - 3 2108 c.2023G>A c.(2023-2025)GTC>ATC p.V675I C6orf138_uc011dwn.1_Missense_Mutation_p.V439I NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 692 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 ATTGAGGTGACGCTAAGAATT 0.453 11 63 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51944713 51944713 + Missense_Mutation SNP A C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:51944713A>C uc003pah.1 - 5 651 c.375T>G c.(373-375)GAT>GAG p.D125E PKHD1_uc003pai.2_Missense_Mutation_p.D125E NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 125 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AAGTACAGCTATCTCGTGGTC 0.473 43 397 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63995564 63995564 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:63995564C>G uc003peh.2 - 3 292 c.258G>C c.(256-258)CAG>CAC p.Q86H LGSN_uc003pei.2_Missense_Mutation_p.Q86H|LGSN_uc003pej.1_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 86 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) ATCGTACAAACTGGAGGCGAT 0.443 14 98 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75799856 75799856 + Missense_Mutation SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:75799856G>C uc003phs.2 - 63 9077 c.8911C>G c.(8911-8913)CCA>GCA p.P2971A COL12A1_uc003pht.2_Missense_Mutation_p.P1807A NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2971 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TGCATCCCTGGTGTGCCCGGG 0.627 35 312 --- --- --- --- PASS FBXO30 84085 broad.mit.edu 37 6 146126628 146126628 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:146126628C>T uc003qla.2 - 2 1113 c.914G>A c.(913-915)GGT>GAT p.G305D uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 305 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) TTTTGAATCACCATGTAAATT 0.403 13 263 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155750042 155750042 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:155750042G>T uc003qqm.2 - 9 1134 c.1031C>A c.(1030-1032)CCC>CAC p.P344H NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 344 Extracellular (Potential).|FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GTCCTCCTGGGGGGCAGAGGT 0.607 16 160 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 162475185 162475185 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr6:162475185C>T uc003qtx.3 - 5 690 c.556G>A c.(556-558)GTT>ATT p.V186I PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.V186I NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 186 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GGAATTAAAACATCATCCCAG 0.398 10 132 --- --- --- --- PASS MICALL2 79778 broad.mit.edu 37 7 1478561 1478561 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:1478561C>A uc003skj.3 - 10 2184 c.2037G>T c.(2035-2037)TGG>TGT p.W679C MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Missense_Mutation_p.W166C NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 679 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCGGCCGAAGCCAGTTGTCAC 0.677 11 56 --- --- --- --- PASS MMD2 221938 broad.mit.edu 37 7 4947058 4947058 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:4947058G>A uc003sno.3 - 7 978 c.782C>T c.(781-783)CCC>CTC p.P261L MMD2_uc003snl.1_Intron|MMD2_uc003snn.3_Missense_Mutation_p.P237L|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 261 Extracellular (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CAGGGTGCTGGGCAGATAGAG 0.537 26 174 --- --- --- --- PASS GRB10 2887 broad.mit.edu 37 7 50660793 50660793 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:50660793G>A uc003tpi.2 - 16 1672 c.1641C>T c.(1639-1641)TGC>TGT p.C547C GRB10_uc003tph.3_Silent_p.C489C|GRB10_uc003tpj.2_Silent_p.C501C|GRB10_uc003tpk.2_Silent_p.C547C|GRB10_uc010kzb.2_Silent_p.C489C|GRB10_uc003tpl.2_Silent_p.C541C|GRB10_uc003tpm.2_Silent_p.C489C|GRB10_uc003tpn.2_Silent_p.C489C NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 547 SH2. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) CGTCGTCCTCGCACTGGAGAG 0.552 Russell-Silver_syndrome 13 101 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88424009 88424009 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:88424009T>C uc003ujv.2 - 2 430 c.248A>G c.(247-249)GAA>GGA p.E83G ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 83 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TGTCACTGCTTCTCCTAGGTG 0.403 3 153 --- --- --- --- PASS ALKBH4 54784 broad.mit.edu 37 7 102098423 102098423 + Silent SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:102098423A>G uc003uzl.2 - 3 332 c.327T>C c.(325-327)TAT>TAC p.Y109Y ALKBH4_uc003uzm.2_Silent_p.Y36Y NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 109 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTTTGGGGCCATAGTCCTGAA 0.453 7 68 --- --- --- --- PASS ARF5 381 broad.mit.edu 37 7 127231094 127231094 + Silent SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:127231094G>T uc003vmb.1 + 5 444 c.408G>T c.(406-408)GTG>GTT p.V136V FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 136 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 CCATGCCCGTGAGCGAGCTGA 0.607 30 221 --- --- --- --- PASS CALD1 800 broad.mit.edu 37 7 134617824 134617824 + Silent SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr7:134617824C>A uc003vrz.2 + 5 763 c.304C>A c.(304-306)CGG>AGG p.R102R CALD1_uc003vry.2_Silent_p.R102R|CALD1_uc003vsa.2_Silent_p.R102R|CALD1_uc003vsb.2_Silent_p.R102R|CALD1_uc010lmm.2_Silent_p.R102R|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Silent_p.R96R|CALD1_uc003vsd.2_Silent_p.R96R|CALD1_uc011kpu.1_Silent_p.R107R|CALD1_uc011kpv.1_5'UTR|CALD1_uc003vse.2_5'UTR NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 102 Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 GCGCCTGGCTCGGCGTGAGGA 0.562 9 70 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2044123 2044123 + Missense_Mutation SNP A T T rs62478391 byFrequency TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr8:2044123A>T uc003wpx.3 + 18 2300 c.2162A>T c.(2161-2163)AAC>ATC p.N721I MYOM2_uc011kwi.1_Missense_Mutation_p.N146I NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 721 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACGCTCCTCAACTGTGACGGC 0.602 17 146 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2820848 2820848 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr8:2820848G>T uc011kwk.1 - 60 9743 c.9353C>A c.(9352-9354)TCC>TAC p.S3118Y CSMD1_uc011kwj.1_Missense_Mutation_p.S2447Y|CSMD1_uc010lrg.2_Missense_Mutation_p.S1009Y NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3118 Sushi 25.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTTATGCTGGAGCCCCAGCG 0.552 25 244 --- --- --- --- PASS CSGALNACT1 55790 broad.mit.edu 37 8 19315990 19315990 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr8:19315990G>A uc011kyn.1 - 5 1862 c.798C>T c.(796-798)ATC>ATT p.I266I CSGALNACT1_uc011kyo.1_Silent_p.I266I|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.I265I|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 266 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) CTAGAGGCACGATAACATTGA 0.438 87 652 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55538745 55538745 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr8:55538745C>G uc003xsd.1 + 4 2451 c.2303C>G c.(2302-2304)TCC>TGC p.S768C RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 768 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTCAAAATTCCAAGGTTCAA 0.289 7 87 --- --- --- --- PASS RDH10 157506 broad.mit.edu 37 8 74209560 74209560 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr8:74209560G>A uc003xzi.2 + 2 681 c.421G>A c.(421-423)GTC>ATC p.V141I RDH10_uc003xzj.2_5'UTR NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 141 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) CGAAGTCTCAGTCCTGGTCAA 0.507 9 211 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113651048 113651048 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr8:113651048G>T uc003ynu.2 - 21 3562 c.3403C>A c.(3403-3405)CGC>AGC p.R1135S CSMD3_uc003yns.2_Missense_Mutation_p.R407S|CSMD3_uc003ynt.2_Missense_Mutation_p.R1095S|CSMD3_uc011lhx.1_Missense_Mutation_p.R1031S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1135 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCAGTCAGGCGTGCCAGTGGT 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 118 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32635064 32635064 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr9:32635064C>T uc003zrg.1 - 1 604 c.514G>A c.(514-516)GAT>AAT p.D172N uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 172 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTAATAGCATCTTGGTCCTTA 0.458 5 126 --- --- --- --- PASS C9orf23 138716 broad.mit.edu 37 9 34610935 34610935 + Missense_Mutation SNP A T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr9:34610935A>T uc003zuu.2 - 2 640 c.359T>A c.(358-360)CTG>CAG p.L120Q C9orf23_uc003zuv.2_Missense_Mutation_p.L120Q NM_148179 NP_680545 Q8N5L8 CI023_HUMAN hypothetical protein LOC138716 120 nucleic acid binding 0 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0385) CCGGCTGAGCAGCACCCACAC 0.652 13 67 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125486388 125486388 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr9:125486388G>A uc004bmu.1 + 1 120 c.120G>A c.(118-120)GCG>GCA p.A40A NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACTCACTGCGGTGGGGAATG 0.517 13 225 --- --- --- --- PASS ZBTB43 23099 broad.mit.edu 37 9 129595397 129595397 + Missense_Mutation SNP T G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr9:129595397T>G uc004bql.2 + 3 882 c.609T>G c.(607-609)CAT>CAG p.H203Q ZBTB43_uc010mxf.2_Missense_Mutation_p.H203Q NM_014007 NP_054726 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCACAGAGCATGACCGCCTGA 0.592 9 43 --- --- --- --- PASS EXD3 54932 broad.mit.edu 37 9 140243631 140243631 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr9:140243631G>A uc004cmp.2 - 16 1957 c.1761C>T c.(1759-1761)CAC>CAT p.H587H C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Silent_p.H267H|EXD3_uc004cmq.1_RNA NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 587 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 GTCTCTCTCTGTGCCTGGGCC 0.697 3 14 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17032472 17032472 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:17032472C>A uc001ioo.2 - 29 4263 c.4211G>T c.(4210-4212)AGC>ATC p.S1404I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1404 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAACCCGGGGCTGCTGAAGGA 0.512 13 116 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25887797 25887797 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:25887797T>C uc001isj.2 + 11 3302 c.3242T>C c.(3241-3243)ATT>ACT p.I1081T GPR158_uc001isk.2_Missense_Mutation_p.I456T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1081 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGCCAGTCCATTTTGGAAGAT 0.502 40 247 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26310458 26310458 + Missense_Mutation SNP T A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:26310458T>A uc001isn.2 + 8 972 c.612T>A c.(610-612)GAT>GAA p.D204E MYO3A_uc009xko.1_Missense_Mutation_p.D204E|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.D204E|MYO3A_uc001ism.2_Missense_Mutation_p.D204E NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 204 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGCAATTGGATACCACTTATG 0.433 6 241 --- --- --- --- PASS ZNF438 220929 broad.mit.edu 37 10 31138498 31138498 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:31138498T>C uc010qdz.1 - 7 1271 c.836A>G c.(835-837)AAT>AGT p.N279S ZNF438_uc001ivn.2_Missense_Mutation_p.N230S|ZNF438_uc010qdy.1_Missense_Mutation_p.N269S|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.N279S|ZNF438_uc001ivp.3_Missense_Mutation_p.N269S|ZNF438_uc010qea.1_Missense_Mutation_p.N279S|ZNF438_uc010qeb.1_Missense_Mutation_p.N279S|ZNF438_uc010qec.1_Intron NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) CTGAACTGCATTGCCAAGAAT 0.388 17 477 --- --- --- --- PASS NRP1 8829 broad.mit.edu 37 10 33502318 33502318 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:33502318G>A uc001iwx.3 - 9 2133 c.1610C>T c.(1609-1611)GCG>GTG p.A537V NRP1_uc001iwv.3_Missense_Mutation_p.A537V|NRP1_uc009xlz.2_Missense_Mutation_p.A537V|NRP1_uc001iww.3_Missense_Mutation_p.A356V|NRP1_uc001iwy.3_Missense_Mutation_p.A537V|NRP1_uc001iwz.2_Missense_Mutation_p.A537V|NRP1_uc001ixa.2_Missense_Mutation_p.A537V|NRP1_uc001ixb.1_Missense_Mutation_p.A537V|NRP1_uc001ixc.1_Missense_Mutation_p.A537V NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 537 Extracellular (Potential).|F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) CCTCACCTTCGCCTTGCGTTT 0.522 8 376 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68280441 68280441 + Missense_Mutation SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:68280441G>C uc009xpn.1 - 11 1588 c.1465C>G c.(1465-1467)CAT>GAT p.H489D CTNNA3_uc001jmw.2_Missense_Mutation_p.H489D|CTNNA3_uc001jmx.3_Missense_Mutation_p.H489D NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 489 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 ACATGTATATGATTCTCCCAT 0.358 38 198 --- --- --- --- PASS PPP1R3C 5507 broad.mit.edu 37 10 93390049 93390049 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:93390049T>C uc001kho.2 - 2 721 c.589A>G c.(589-591)ACT>GCT p.T197A NM_005398 NP_005389 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory (inhibitor) 197 Interaction with EPM2A.|CBM21. protein serine/threonine phosphatase activity breast(1) 1 Colorectal(252;0.235) TCTACGTCAGTGTAGTTTTTC 0.408 30 172 --- --- --- --- PASS XPNPEP1 7511 broad.mit.edu 37 10 111667494 111667494 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr10:111667494G>A uc001kyp.1 - 3 212 c.72C>T c.(70-72)ACC>ACT p.T24T XPNPEP1_uc009xxt.1_Silent_p.T67T|XPNPEP1_uc001kyq.1_5'UTR|XPNPEP1_uc010qrb.1_Silent_p.T67T NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, 24 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) GGATCGGTTCGGTCACATACT 0.522 20 211 --- --- --- --- PASS SMPD1 6609 broad.mit.edu 37 11 6412896 6412896 + Missense_Mutation SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:6412896A>G uc001mcw.2 + 2 775 c.601A>G c.(601-603)AGC>GGC p.S201G SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.S201G|SMPD1_uc009yew.2_Missense_Mutation_p.S200G NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 199 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TGCCCCTGTCAGCCGCATCCT 0.627 3 21 --- --- --- --- PASS RASSF10 644943 broad.mit.edu 37 11 13032263 13032263 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:13032263C>T uc001mkn.1 + 2 1464 c.1464C>T c.(1462-1464)GAC>GAT p.D488D NM_001080521 NP_001073990 A6NK89 RASFA_HUMAN Ras association (RalGDS/AF-6) domain family 380 signal transduction 0 Epithelial(150;0.00399) GTGGCCCCGACGGCGAGCTGC 0.672 2 1 --- --- --- --- PASS RCN1 5954 broad.mit.edu 37 11 32118819 32118819 + Silent SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:32118819T>C uc010reb.1 + 2 650 c.384T>C c.(382-384)GAT>GAC p.D128D RCN1_uc010rea.1_Silent_p.D77D|RCN1_uc001mtk.2_5'UTR NM_002901 NP_002892 Q15293 RCN1_HUMAN reticulocalbin 1 precursor 128 EF-hand 2.|2; possibly ancestral (Potential). endoplasmic reticulum lumen calcium ion binding large_intestine(1) 1 Lung SC(675;0.225) AGGATTATGATAGGGACAAGG 0.458 9 46 --- --- --- --- PASS NR1H3 10062 broad.mit.edu 37 11 47290247 47290247 + Nonstop_Mutation SNP A T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:47290247A>T uc009ylm.2 + 10 1565 c.1344A>T c.(1342-1344)TGA>TGT p.*448C MADD_uc001neq.2_5'Flank|MADD_uc001ner.1_5'Flank|MADD_uc001nev.1_5'Flank|MADD_uc001nes.1_5'Flank|MADD_uc001net.1_5'Flank|MADD_uc009yln.1_5'Flank|MADD_uc001neu.1_5'Flank|MADD_uc001nex.2_5'Flank|MADD_uc001nez.2_5'Flank|MADD_uc001new.2_5'Flank|NR1H3_uc010rhk.1_Nonstop_Mutation_p.*454C|NR1H3_uc001nek.2_Nonstop_Mutation_p.*403C|NR1H3_uc001nej.2_Nonstop_Mutation_p.*388C|NR1H3_uc001nel.2_Nonstop_Mutation_p.*467C|NR1H3_uc001nen.3_Nonstop_Mutation_p.*388C|NR1H3_uc001nem.2_Nonstop_Mutation_p.*448C|NR1H3_uc001nep.2_Nonstop_Mutation_p.*297C NM_005693 NP_005684 Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 448 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding ovary(2)|lung(1) 3 TGCACGAATGACTGTTCTGTC 0.547 10 94 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55111021 55111021 + Silent SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:55111021G>T uc010rie.1 + 1 345 c.345G>T c.(343-345)GTG>GTT p.V115V NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TTTTGGTGGTGATGGCCTATG 0.458 12 481 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55339883 55339883 + Missense_Mutation SNP G A A rs150706012 by1000genomes TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:55339883G>A uc010rih.1 + 1 280 c.280G>A c.(280-282)GAG>AAG p.E94K NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) CTCCTTCAGCGAGTGCATGAT 0.458 44 358 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995510 57995510 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:57995510C>T uc010rkd.1 - 1 838 c.838G>A c.(838-840)GCG>ACG p.A280T NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) TAGACCAACGCGATTTGGCTG 0.547 12 126 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995829 57995829 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:57995829G>A uc010rkd.1 - 1 519 c.519C>T c.(517-519)TGC>TGT p.C173C NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GGTGGTGGCCGCAAAAGGGCA 0.652 4 59 --- --- --- --- PASS ZFP91 80829 broad.mit.edu 37 11 58384221 58384221 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:58384221C>G uc001nmx.3 + 10 1303 c.1135C>G c.(1135-1137)CGG>GGG p.R379G ZFP91_uc001nmy.3_Missense_Mutation_p.R378G|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 379 C2H2-type 3. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ATATTGTGCTCGGGCCTTCAA 0.403 5 88 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64517934 64517934 + Silent SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:64517934A>G uc001oax.3 - 17 2908 c.2091T>C c.(2089-2091)AAT>AAC p.N697N PYGM_uc001oay.3_Silent_p.N609N NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 697 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CCATCTCCACATTGGCCCCGT 0.567 36 187 --- --- --- --- PASS CDC42BPG 55561 broad.mit.edu 37 11 64606676 64606676 + Silent SNP C T T rs149531322 TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:64606676C>T uc001obs.3 - 7 705 c.705G>A c.(703-705)CCG>CCA p.P235P NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 235 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 AGATATAGTCCGGCGTCCCTA 0.617 12 148 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66189957 66189957 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:66189957C>A uc001ohx.1 + 3 539 c.363C>A c.(361-363)GAC>GAA p.D121E NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 121 PAS 1. transcription, DNA-dependent DNA binding|signal transducer activity 0 GCATCTACGACATCATTGACC 0.557 22 171 --- --- --- --- PASS CCND1 595 broad.mit.edu 37 11 69458669 69458669 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:69458669G>A uc001opa.2 + 3 693 c.484G>A c.(484-486)GAA>AAA p.E162K NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 162 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) CGATTTCATTGAACACTTCCT 0.572 T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 10 72 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92614037 92614037 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:92614037C>A uc001pdj.3 + 22 12285 c.12268C>A c.(12268-12270)CTC>ATC p.L4090I FAT3_uc001pdi.3_Missense_Mutation_p.L530I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4090 EGF-like 3.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TAAAGCTGGGCTCACTGGAGT 0.418 TCGA Ovarian(4;0.039) 61 377 --- --- --- --- PASS APOA5 116519 broad.mit.edu 37 11 116661354 116661354 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:116661354G>A uc001ppr.2 - 3 599 c.591C>T c.(589-591)AGC>AGT p.S197S ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.S197S|APOA5_uc009yzf.2_Silent_p.S197S|APOA5_uc009yzg.2_Silent_p.S223S NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 197 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CGCTCACCAGGCTCTCGGCGT 0.711 5 28 --- --- --- --- PASS SRPR 6734 broad.mit.edu 37 11 126134415 126134415 + Missense_Mutation SNP G T T rs149426729 TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr11:126134415G>T uc001qdh.2 - 12 1596 c.1545C>A c.(1543-1545)GAC>GAA p.D515E SRPR_uc010sbm.1_Missense_Mutation_p.D487E NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 515 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CCAGCACCACGTCAAAGCCTT 0.507 3 84 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1902853 1902853 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:1902853C>T uc001qjp.2 - 38 3613 c.3382G>A c.(3382-3384)GCC>ACC p.A1128T CACNA2D4_uc001qjo.2_Silent_p.V272V NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 1128 Helical; (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AGCCCCCAGGCACACACAGGC 0.637 4 64 --- --- --- --- PASS CLSTN3 9746 broad.mit.edu 37 12 7303566 7303566 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:7303566C>G uc001qsr.2 + 16 2712 c.2434C>G c.(2434-2436)CAC>GAC p.H812D CLSTN3_uc001qss.2_Missense_Mutation_p.H824D NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 812 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CCACCCCAGCCACGTGCTCAG 0.632 13 78 --- --- --- --- PASS CLEC9A 283420 broad.mit.edu 37 12 10217439 10217439 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:10217439C>T uc001qxa.2 + 8 1193 c.580C>T c.(580-582)CCT>TCT p.P194S NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 194 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 TGGCTCCTCTCCTTCTCCTGG 0.453 17 158 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45209854 45209854 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:45209854T>C uc001rog.2 - 3 845 c.250A>G c.(250-252)AAA>GAA p.K84E NELL2_uc001rof.3_Missense_Mutation_p.K83E|NELL2_uc001roh.2_Missense_Mutation_p.K84E|NELL2_uc009zkd.2_Missense_Mutation_p.K83E|NELL2_uc010skz.1_Missense_Mutation_p.K134E|NELL2_uc010sla.1_Missense_Mutation_p.K107E|NELL2_uc001roi.1_Missense_Mutation_p.K84E|NELL2_uc010slb.1_Missense_Mutation_p.K83E|NELL2_uc001roj.2_Missense_Mutation_p.K84E NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 84 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AATTCATGTTTATTTCTCAGC 0.353 44 264 --- --- --- --- PASS DDN 23109 broad.mit.edu 37 12 49391375 49391375 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:49391375C>T uc001rsv.1 - 2 1302 c.1284G>A c.(1282-1284)GAG>GAA p.E428E uc001rsw.2_5'Flank NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 428 Interaction with CD2AP and NPHS1 (By similarity).|Interaction with ACTN1. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 CCTTCCAACCCTCCAGGGTCT 0.667 23 101 --- --- --- --- PASS DCN 1634 broad.mit.edu 37 12 91546946 91546946 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:91546946C>T uc001tbs.2 - 5 767 c.673G>A c.(673-675)GAA>AAA p.E225K DCN_uc001tbo.2_Missense_Mutation_p.E116K|DCN_uc001tbp.2_Missense_Mutation_p.E78K|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.E225K|DCN_uc001tbu.2_Missense_Mutation_p.E225K NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 225 LRR 7. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 AGATGTAATTCCGTAAGGGAA 0.343 11 147 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101603402 101603402 + Silent SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:101603402G>T uc001thz.3 - 1 615 c.225C>A c.(223-225)CCC>CCA p.P75P NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 75 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AGACCTCGGAGGGGGTGCCCA 0.592 8 62 --- --- --- --- PASS POLR3B 55703 broad.mit.edu 37 12 106890610 106890610 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:106890610C>T uc001tlp.2 + 25 3120 c.2898C>T c.(2896-2898)GGC>GGT p.G966G POLR3B_uc001tlq.2_Silent_p.G908G NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 966 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 CGTTTGGAGGCAGTAAAGTGA 0.522 11 99 --- --- --- --- PASS UBE3B 89910 broad.mit.edu 37 12 109921676 109921676 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:109921676G>A uc001top.2 + 4 775 c.172G>A c.(172-174)GAT>AAT p.D58N UBE3B_uc001toq.2_Missense_Mutation_p.D58N|UBE3B_uc001tol.1_Missense_Mutation_p.D58N|UBE3B_uc001tom.2_Missense_Mutation_p.D58N|UBE3B_uc001ton.2_Missense_Mutation_p.D58N|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.D58N|UBE3B_uc001tor.2_Missense_Mutation_p.D58N NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 58 IQ. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GAGAGAGATTGATGACTTTTT 0.353 26 203 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129559349 129559349 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr12:129559349C>T uc009zyl.1 - 9 2699 c.2371G>A c.(2371-2373)GCA>ACA p.A791T TMEM132D_uc001uia.2_Missense_Mutation_p.A329T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 791 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTGATGTTTGCCGTTCCAACA 0.478 5 240 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25671432 25671432 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:25671432G>T uc001upy.2 + 1 1157 c.1096G>T c.(1096-1098)GCT>TCT p.A366S NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 366 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATTGTATGTAGCTTTAGCTCA 0.483 14 119 --- --- --- --- PASS FAM123A 219287 broad.mit.edu 37 13 25744058 25744058 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:25744058G>T uc001uqb.2 - 1 1800 c.1700C>A c.(1699-1701)GCA>GAA p.A567E FAM123A_uc001uqa.2_Missense_Mutation_p.A448E|FAM123A_uc001uqc.2_Missense_Mutation_p.A448E NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 567 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AGGAAGGGTTGCTGGACTTCC 0.617 8 140 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28919626 28919626 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:28919626G>T uc001usb.3 - 16 2596 c.2311C>A c.(2311-2313)CTC>ATC p.L771I FLT1_uc001usa.3_5'UTR NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 771 Helical; (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGCCAGAAGAGAGTCGCAGCC 0.413 5 60 --- --- --- --- PASS C13orf36 400120 broad.mit.edu 37 13 37269448 37269448 + Missense_Mutation SNP A T T rs17853664 TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:37269448A>T uc001uvt.3 + 2 679 c.233A>T c.(232-234)GAG>GTG p.E78V NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 78 E -> G (in Ref. 3; AAH36540). integral to membrane skin(1) 1 TCCTACCCAGAGTATCCAAGC 0.453 12 207 --- --- --- --- PASS ENOX1 55068 broad.mit.edu 37 13 43934113 43934113 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:43934113C>T uc001uza.3 - 7 763 c.463G>A c.(463-465)GAG>AAG p.E155K ENOX1_uc001uzb.3_Missense_Mutation_p.E155K|ENOX1_uc001uzc.3_Missense_Mutation_p.E155K|ENOX1_uc010tfm.1_5'UTR NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 155 RRM. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) ATAATTTCCTCAGTAGCATTT 0.403 6 160 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58209085 58209085 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:58209085C>A uc001vhq.1 + 1 3297 c.2405C>A c.(2404-2406)ACC>AAC p.T802N PCDH17_uc010aec.1_Missense_Mutation_p.T802N NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 802 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GACTACCAGACCCGCCTGCCC 0.642 3 27 --- --- --- --- PASS DIAPH3 81624 broad.mit.edu 37 13 60590068 60590068 + Silent SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr13:60590068T>C uc001vht.2 - 7 969 c.750A>G c.(748-750)CTA>CTG p.L250L DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.L239L|DIAPH3_uc010aed.1_Silent_p.L204L|DIAPH3_uc010aee.1_Silent_p.L180L|uc001vhx.2_Intron|uc001vhy.2_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 250 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TCAGGGCTTTTAGACACTGTA 0.308 4 93 --- --- --- --- PASS SLC39A2 29986 broad.mit.edu 37 14 21469520 21469520 + Missense_Mutation SNP G T T rs143106894 TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr14:21469520G>T uc001vyr.2 + 4 899 c.712G>T c.(712-714)GGC>TGC p.G238C SLC39A2_uc001vys.2_Missense_Mutation_p.G139C NM_014579 NP_055394 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), 238 Helical; (Potential). cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity ovary(2)|central_nervous_system(1) 3 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) GTCCCCCCTGGGCCTAGCCGT 0.567 26 144 --- --- --- --- PASS FUT8 2530 broad.mit.edu 37 14 66028290 66028290 + Silent SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr14:66028290A>G uc001xin.2 + 3 1206 c.9A>G c.(7-9)CCA>CCG p.P3P FUT8_uc001xio.2_Silent_p.P3P|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.P3P|FUT8_uc001xiq.2_Intron NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 3 Cytoplasmic (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) AAATGCGGCCATGGACTGGTT 0.443 31 245 --- --- --- --- PASS ZNF410 57862 broad.mit.edu 37 14 74390097 74390097 + Splice_Site SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr14:74390097G>C uc001xoz.1 + 11 1453 c.1271_splice c.e11-1 p.E424_splice ZNF410_uc001xoy.1_Splice_Site|ZNF410_uc010tuf.1_Splice_Site|ZNF410_uc010tug.1_Splice_Site_p.E155_splice|ZNF410_uc010tuh.1_Splice_Site_p.E351_splice|ZNF410_uc010tui.1_Splice_Site|ZNF410_uc010arz.1_Splice_Site_p.E441_splice|ZNF410_uc001xpa.1_Splice_Site_p.E228_splice|ZNF410_uc001xpb.1_Splice_Site_p.E377_splice|ZNF410_uc001xpc.1_Splice_Site_p.E371_splice|ZNF410_uc010tuj.1_Splice_Site_p.E228_splice NM_021188 NP_067011 Q86VK4 ZN410_HUMAN zinc finger protein 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00369) TTGCTTCACAGAGGTGCTTGC 0.438 10 147 --- --- --- --- PASS C14orf166B 145497 broad.mit.edu 37 14 77302627 77302627 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr14:77302627G>A uc001xsx.2 + 4 582 c.468G>A c.(466-468)ATG>ATA p.M156I C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 156 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) TGGTGGAGATGCTACAAGAGA 0.552 10 43 --- --- --- --- PASS MIR668 768214 broad.mit.edu 37 14 101521650 101521650 + RNA SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr14:101521650G>A hsa-mir-668|MI0003761 + c.56G>A MIR485_hsa-mir-485|MI0002469_5'Flank|hsa-mir-323b|MI0014206_5'Flank 0 CACTCGGCTCGGCCCACTACC 0.562 9 111 --- --- --- --- PASS KIF26A 26153 broad.mit.edu 37 14 104641909 104641909 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr14:104641909C>T uc001yos.3 + 12 2784 c.2784C>T c.(2782-2784)AGC>AGT p.S928S NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 928 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) AGGACAGCAGCGCTTGGCCTG 0.657 7 34 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33993204 33993204 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:33993204C>A uc001zhi.2 + 42 6476 c.6406C>A c.(6406-6408)CCG>ACG p.P2136T RYR3_uc010bar.2_Missense_Mutation_p.P2136T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2136 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGATCCACCCCGCTGGATGT 0.572 OREG0023030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 13 --- --- --- --- PASS SLC12A6 9990 broad.mit.edu 37 15 34531356 34531356 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:34531356T>C uc001zhw.2 - 19 2606 c.2442A>G c.(2440-2442)ATA>ATG p.I814M SLC12A6_uc001zhv.2_Missense_Mutation_p.I763M|SLC12A6_uc001zhx.2_Missense_Mutation_p.I799M|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.I755M|SLC12A6_uc001zib.2_Missense_Mutation_p.I805M|SLC12A6_uc001zic.2_Missense_Mutation_p.I814M|SLC12A6_uc010bau.2_Missense_Mutation_p.I814M|SLC12A6_uc001zid.2_Missense_Mutation_p.I755M|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.I626M NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 814 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TTAGGTGCTTTATGGTCTGAA 0.498 38 237 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53907738 53907738 + Nonsense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:53907738C>A uc002acj.2 - 15 2707 c.2665G>T c.(2665-2667)GAA>TAA p.E889* WDR72_uc010bfi.1_Nonsense_Mutation_p.E889* NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 889 lung(1)|skin(1) 2 all cancers(107;0.0511) CAATTATTTTCCAATCCTCTT 0.328 12 125 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63046061 63046061 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:63046061G>T uc002alb.3 + 33 4422 c.4422G>T c.(4420-4422)CAG>CAT p.Q1474H TLN2_uc002alc.3_Translation_Start_Site NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1474 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GGGCTAACCAGGCCATCCAGA 0.567 17 135 --- --- --- --- PASS IREB2 3658 broad.mit.edu 37 15 78783002 78783002 + Silent SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:78783002T>C uc002bdr.2 + 18 2385 c.2223T>C c.(2221-2223)CAT>CAC p.H741H IREB2_uc010unb.1_Silent_p.H491H NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 741 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAAATGCCCATGTCTTATTAT 0.383 70 359 --- --- --- --- PASS TMC3 342125 broad.mit.edu 37 15 81637158 81637158 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:81637158G>T uc002bgo.1 - 13 1467 c.1467C>A c.(1465-1467)AGC>AGA p.S489R TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.S489R NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 489 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GAGTGTGGAGGCTAGTCTTGT 0.413 13 64 --- --- --- --- PASS C15orf42 90381 broad.mit.edu 37 15 90168052 90168052 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr15:90168052C>A uc002boe.2 + 20 4511 c.4511C>A c.(4510-4512)CCT>CAT p.P1504H C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1504 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTGTCTCACCCTGGGATTCCC 0.552 4 176 --- --- --- --- PASS PIGQ 9091 broad.mit.edu 37 16 632882 632882 + Splice_Site SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:632882G>T uc002cho.2 + 10 1634 c.1532_splice c.e10-1 p.D511_splice PIGQ_uc010bqw.2_Splice_Site_p.I532_splice|PIGQ_uc002chn.2_Splice_Site_p.I532_splice|PIGQ_uc010uui.1_Splice_Site|PIGQ_uc002chp.2_Splice_Site_p.D81_splice|uc010uuj.1_3'UTR NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 Hepatocellular(780;0.00335) TGTCCTTCCAGATAAACCCAC 0.667 35 252 --- --- --- --- PASS PDPK1 5170 broad.mit.edu 37 16 2636802 2636802 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:2636802C>T uc002cqs.2 + 11 1395 c.1251C>T c.(1249-1251)CAC>CAT p.H417H PDPK1_uc002cqt.2_Silent_p.H290H|PDPK1_uc010bsn.2_Silent_p.H417H|PDPK1_uc002cqu.2_Silent_p.H390H NM_002613 NP_002604 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 417 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) AGTACATTCACGATCTGGACT 0.542 17 273 --- --- --- --- PASS ANKS3 124401 broad.mit.edu 37 16 4747368 4747368 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:4747368G>A uc002cxj.1 - 16 2155 c.1860C>T c.(1858-1860)CTC>CTT p.L620L ANKS3_uc010uxr.1_Silent_p.L143L|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Silent_p.L547L|ANKS3_uc002cxk.2_Silent_p.L491L|ANKS3_uc002cxl.2_Silent_p.L447L|ANKS3_uc010uxs.1_Silent_p.L547L NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 620 0 GGGCTCCCGAGAGCTCGGGGA 0.652 15 111 --- --- --- --- PASS A2BP1 54715 broad.mit.edu 37 16 7726840 7726840 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:7726840G>T uc002cys.2 + 14 1983 c.995G>T c.(994-996)AGT>ATT p.S332I A2BP1_uc002cyt.2_Missense_Mutation_p.S305I|A2BP1_uc010uxz.1_Missense_Mutation_p.S375I|A2BP1_uc010uya.1_Missense_Mutation_p.R289I|A2BP1_uc010uyb.1_Missense_Mutation_p.S332I|A2BP1_uc002cyw.2_Missense_Mutation_p.R353I|A2BP1_uc002cyy.2_Missense_Mutation_p.S353I|A2BP1_uc002cyx.2_Missense_Mutation_p.S353I|A2BP1_uc010uyc.1_Missense_Mutation_p.S326I NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 332 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TACAGTGACAGGTAAGGGTCA 0.478 5 124 --- --- --- --- PASS PAPD5 64282 broad.mit.edu 37 16 50258853 50258853 + Missense_Mutation SNP T A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:50258853T>A uc010vgo.1 + 10 1550 c.1515T>A c.(1513-1515)GAT>GAA p.D505E PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.D296E|PAPD5_uc002ega.2_Missense_Mutation_p.D296E NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 isoform a 426 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding 0 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) CATATAGAGATTGGATATCAA 0.383 28 246 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61858915 61858915 + Splice_Site SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:61858915C>T uc002eog.1 - 5 1087 c.835_splice c.e5+1 p.S279_splice CDH8_uc002eoh.2_Splice_Site_p.S48_splice NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AATTAACTTACTCTGTGCAAA 0.353 8 100 --- --- --- --- PASS FHOD1 29109 broad.mit.edu 37 16 67281231 67281231 + Missense_Mutation SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:67281231G>C uc002esl.2 - 1 195 c.83C>G c.(82-84)CCC>CGC p.P28R FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR|SLC9A5_uc002esm.2_5'Flank|SLC9A5_uc010cee.2_5'Flank|SLC9A5_uc010vji.1_5'Flank NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 28 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACATGCGAAGGGGTCGGTGTC 0.716 4 47 --- --- --- --- PASS ATMIN 23300 broad.mit.edu 37 16 81077572 81077572 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr16:81077572C>G uc002ffz.1 + 4 1487 c.1469C>G c.(1468-1470)TCC>TGC p.S490C ATMIN_uc002fga.2_Missense_Mutation_p.S332C|ATMIN_uc010vnn.1_Missense_Mutation_p.S261C|ATMIN_uc002fgb.1_Missense_Mutation_p.S332C NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 490 response to DNA damage stimulus nucleus zinc ion binding 0 GGTGGGGTCTCCAGAGAAACT 0.458 31 185 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 93 --- --- --- --- PASS SSH2 85464 broad.mit.edu 37 17 27959688 27959688 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:27959688C>G uc002heo.1 - 15 2443 c.2443G>C c.(2443-2445)GAA>CAA p.E815Q SSH2_uc010wbh.1_Missense_Mutation_p.E842Q NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 815 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TTGGCTAGTTCAGGCTGGGCT 0.537 34 232 --- --- --- --- PASS LIG3 3980 broad.mit.edu 37 17 33310101 33310101 + Missense_Mutation SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:33310101A>G uc002hik.1 + 2 185 c.77A>G c.(76-78)AAA>AGA p.K26R LIG3_uc002hii.2_Missense_Mutation_p.K26R|LIG3_uc002hij.2_Missense_Mutation_p.K26R|LIG3_uc010cth.1_Missense_Mutation_p.K35R NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 26 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) CTATTCCGAAAACATCACTGG 0.458 Other_BER_factors 17 120 --- --- --- --- PASS PEX12 5193 broad.mit.edu 37 17 33904306 33904306 + Missense_Mutation SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:33904306G>C uc002hjp.2 - 2 1047 c.431C>G c.(430-432)TCT>TGT p.S144C NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 144 Cytoplasmic (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGATGAATAGAATATTCATC 0.453 14 249 --- --- --- --- PASS KRT28 162605 broad.mit.edu 37 17 38953217 38953217 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:38953217C>A uc002hvh.1 - 5 995 c.929G>T c.(928-930)AGG>ATG p.R310M NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 310 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CAGGGTGCGCCTCATCTCGGT 0.622 25 139 --- --- --- --- PASS DHX8 1659 broad.mit.edu 37 17 41570101 41570101 + Nonsense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:41570101C>T uc002idu.1 + 6 629 c.556C>T c.(556-558)CGA>TGA p.R186* DHX8_uc010wif.1_Nonsense_Mutation_p.R95*|DHX8_uc010wig.1_Nonsense_Mutation_p.R186* NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 186 Arg/Ser-rich (RS domain). catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding p.R186Q(1) ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) aaaccgagatcgagacagaga 0.209 15 117 --- --- --- --- PASS TBX21 30009 broad.mit.edu 37 17 45822501 45822501 + Silent SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:45822501C>A uc002ilv.1 + 6 1588 c.1377C>A c.(1375-1377)GGC>GGA p.G459G NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 459 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 TGGAACCCGGCCCTGGAGGCT 0.672 7 49 --- --- --- --- PASS SFRS1 6426 broad.mit.edu 37 17 56083173 56083173 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:56083173T>C uc002ivi.2 - 3 750 c.541A>G c.(541-543)AGA>GGA p.R181G SFRS1_uc002ivj.2_Missense_Mutation_p.R181G NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 181 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) TCATGAGATCTAAACTTAGTG 0.398 20 163 --- --- --- --- PASS FADS6 283985 broad.mit.edu 37 17 72874468 72874468 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:72874468C>T uc002jmd.1 - 6 1057 c.1045G>A c.(1045-1047)GGG>AGG p.G349R FADS6_uc010wrn.1_Missense_Mutation_p.G203R NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 355 fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) CATTACAGCCCCACAAGCTCA 0.647 6 18 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79911086 79911086 + Nonsense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr17:79911086C>T uc010wvg.1 - 11 1514 c.1242G>A c.(1240-1242)TGG>TGA p.W414* NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 414 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGCTCCTGTCCCAGCAGTGCA 0.672 3 31 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 7888314 7888314 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr18:7888314C>G uc002knn.3 + 3 910 c.407C>G c.(406-408)CCA>CGA p.P136R PTPRM_uc010dkv.2_Missense_Mutation_p.P136R NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 136 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TCTGGAGACCCAACACGTACA 0.438 11 191 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50432441 50432441 + Missense_Mutation SNP A T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr18:50432441A>T uc002lfe.1 + 3 1027 c.440A>T c.(439-441)GAA>GTA p.E147V DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 147 Extracellular (Potential).|Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCACAGACAGAATCTGTCACA 0.423 12 117 --- --- --- --- PASS LMAN1 3998 broad.mit.edu 37 18 57000330 57000330 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr18:57000330C>T uc002lhz.2 - 11 1399 c.1367G>A c.(1366-1368)CGA>CAA p.R456Q NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 456 Lumenal (Potential). blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TACCATATTTCGCTGCACTAA 0.383 5 104 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 425173 425173 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:425173C>T uc002loq.3 - 10 1233 c.1233G>A c.(1231-1233)GAG>GAA p.E411E SHC2_uc002lop.3_Silent_p.E152E NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 411 CH1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATACAGGTGCTCCTCGTGGT 0.687 12 58 --- --- --- --- PASS CYP4F8 11283 broad.mit.edu 37 19 15726540 15726540 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:15726540C>T uc002nbi.2 + 2 177 c.113C>T c.(112-114)ACC>ATC p.T38I CYP4F8_uc010xoi.1_Missense_Mutation_p.T38I|CYP4F8_uc010xoj.1_5'UTR NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 38 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CTGGCCTGGACCTATGCCTTC 0.677 7 47 --- --- --- --- PASS ZNF493 284443 broad.mit.edu 37 19 21606161 21606161 + Missense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:21606161G>A uc002npx.2 + 2 596 c.316G>A c.(316-318)GGA>AGA p.G106R ZNF493_uc002npw.2_Missense_Mutation_p.G234R|ZNF493_uc002npy.2_Missense_Mutation_p.G106R NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTTCATACTGGAGAGAAATC 0.363 6 125 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22379425 22379425 + Missense_Mutation SNP T A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:22379425T>A uc002nqs.1 - 1 329 c.11A>T c.(10-12)AAC>ATC p.N4I NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 4 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTTTCTGTAGTTCTCTAACAT 0.343 49 331 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:22940373T>C uc010xrh.1 - 5 2065 c.2065A>G c.(2065-2067)AAG>GAG p.K689E NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343 3 127 --- --- --- --- PASS ZNF181 339318 broad.mit.edu 37 19 35232076 35232076 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:35232076C>G uc002nvu.3 + 4 1253 c.790C>G c.(790-792)CCC>GCC p.P264A ZNF181_uc010xsa.1_Missense_Mutation_p.P263A|ZNF181_uc010xsb.1_Missense_Mutation_p.P263A|ZNF181_uc010xsc.1_Missense_Mutation_p.P199A NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGGAGAGAAGCCCTATGAATG 0.418 10 245 --- --- --- --- PASS MIR518E 574487 broad.mit.edu 37 19 54233112 54233112 + RNA SNP G T T rs34416818 TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:54233112G>T hsa-mir-518e|MI0003169 + c.21G>T MIR518A1_hsa-mir-518a-1|MI0003170_5'Flank 0 TGACCCTCTAGAGGGAAGCGC 0.428 18 192 --- --- --- --- PASS GALP 85569 broad.mit.edu 37 19 56688488 56688488 + Missense_Mutation SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr19:56688488C>A uc002qmo.1 + 2 93 c.11C>A c.(10-12)CCC>CAC p.P4H GALP_uc010eti.2_Missense_Mutation_p.P4H NM_033106 NP_149097 Q9UBC7 GALP_HUMAN galanin-like peptide isoform 1 precursor 4 neuropeptide signaling pathway extracellular region hormone activity 0 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) ATGGCTCCTCCCTCCGTCCCC 0.642 4 36 --- --- --- --- PASS STK35 140901 broad.mit.edu 37 20 2097910 2097910 + Silent SNP C A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr20:2097910C>A uc010gak.2 + 3 1491 c.1491C>A c.(1489-1491)TCC>TCA p.S497S STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Silent_p.S364S NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 497 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GCAGGACTTCCATGTCTGAGG 0.507 37 113 --- --- --- --- PASS TMC2 117532 broad.mit.edu 37 20 2616614 2616614 + Silent SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr20:2616614C>G uc002wgf.1 + 18 2364 c.2349C>G c.(2347-2349)TCC>TCG p.S783S TMC2_uc002wgg.1_Silent_p.S767S NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 783 Cytoplasmic (Potential). integral to membrane ovary(3) 3 AAAGCCTTTCCCGAGCTAATG 0.458 22 76 --- --- --- --- PASS ZNF341 84905 broad.mit.edu 37 20 32328784 32328784 + Missense_Mutation SNP G C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr20:32328784G>C uc002wzy.2 + 2 128 c.108G>C c.(106-108)CAG>CAC p.Q36H ZNF341_uc002wzx.2_Missense_Mutation_p.Q36H|ZNF341_uc010geq.2_Missense_Mutation_p.R12T|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CGACAGGCCAGAGTGTCAATG 0.547 18 86 --- --- --- --- PASS KCNG1 3755 broad.mit.edu 37 20 49626384 49626384 + Silent SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr20:49626384G>A uc002xwa.3 - 2 787 c.492C>T c.(490-492)TGC>TGT p.C164C KCNG1_uc002xwb.2_Silent_p.C164C NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 164 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GGCGCTTGCAGCAGCCGTCCA 0.682 10 83 --- --- --- --- PASS CTCFL 140690 broad.mit.edu 37 20 56098952 56098952 + Nonsense_Mutation SNP G A A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr20:56098952G>A uc010gix.1 - 1 972 c.310C>T c.(310-312)CAG>TAG p.Q104* CTCFL_uc010giw.1_Nonsense_Mutation_p.Q104*|CTCFL_uc002xym.2_Nonsense_Mutation_p.Q104*|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gje.2_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjk.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjl.1_Nonsense_Mutation_p.Q104* NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 104 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCTTGCTGCTGTATGCTC 0.597 34 158 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57829371 57829371 + Missense_Mutation SNP A C C TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr20:57829371A>C uc002yan.2 + 5 4607 c.4607A>C c.(4606-4608)GAG>GCG p.E1536A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1536 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GTCACAGAAGAGGGCAGAGCA 0.493 15 45 --- --- --- --- PASS ZNF295 49854 broad.mit.edu 37 21 43412303 43412303 + Silent SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr21:43412303G>T uc002zab.3 - 3 2116 c.1902C>A c.(1900-1902)GCC>GCA p.A634A ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Silent_p.A634A|ZNF295_uc002zaa.3_Silent_p.A634A NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 634 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 TAATGATCAGGGCCTTCTTAA 0.453 13 173 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43519180 43519180 + Missense_Mutation SNP A T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr21:43519180A>T uc002zaf.1 + 7 1076 c.1076A>T c.(1075-1077)CAG>CTG p.Q359L UMODL1_uc002zad.1_Missense_Mutation_p.Q287L|UMODL1_uc002zae.1_Missense_Mutation_p.Q287L|UMODL1_uc002zag.1_Missense_Mutation_p.Q359L|UMODL1_uc010gow.1_Missense_Mutation_p.Q151L|UMODL1_uc002zai.1_Missense_Mutation_p.Q10L|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.Q10L|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.Q104L NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 359 Extracellular (Potential).|Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 GCCAGGACACAGAGCCAGGCA 0.587 13 127 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43522280 43522280 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr21:43522280C>T uc002zaf.1 + 8 1191 c.1191C>T c.(1189-1191)GCC>GCT p.A397A UMODL1_uc002zad.1_Silent_p.A325A|UMODL1_uc002zae.1_Silent_p.A325A|UMODL1_uc002zag.1_Silent_p.A397A|UMODL1_uc010gow.1_Silent_p.A189A|UMODL1_uc002zai.1_Silent_p.A48A|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Silent_p.A48A|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.A142A|C21orf128_uc002zak.2_3'UTR NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 397 Extracellular (Potential).|SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TCTCAGATGCCCAGGTATTTG 0.428 9 93 --- --- --- --- PASS SGSM1 129049 broad.mit.edu 37 22 25240894 25240894 + Missense_Mutation SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr22:25240894C>T uc003abg.2 + 3 251 c.94C>T c.(94-96)CGC>TGC p.R32C SGSM1_uc003abh.2_Missense_Mutation_p.R32C|SGSM1_uc010guu.1_Missense_Mutation_p.R32C|SGSM1_uc003abj.2_Missense_Mutation_p.R32C|SGSM1_uc003abi.1_Missense_Mutation_p.R7C|SGSM1_uc003abf.2_Missense_Mutation_p.R32C NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 32 Golgi apparatus Rab GTPase activator activity p.R32H(1) ovary(2)|central_nervous_system(2)|pancreas(1) 5 GGCTGTGACACGCAAGTTTGT 0.567 7 67 --- --- --- --- PASS TOM1 10043 broad.mit.edu 37 22 35741772 35741772 + Missense_Mutation SNP G T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chr22:35741772G>T uc003ann.2 + 13 1404 c.1279G>T c.(1279-1281)GAC>TAC p.D427Y TOM1_uc011ami.1_Missense_Mutation_p.D394Y|TOM1_uc011amj.1_Missense_Mutation_p.D270Y|TOM1_uc003ans.2_Missense_Mutation_p.D270Y|TOM1_uc011amk.1_Missense_Mutation_p.D389Y|TOM1_uc003anp.2_Missense_Mutation_p.D427Y|TOM1_uc011aml.1_Missense_Mutation_p.D382Y|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.D421Y|TOM1_uc003anr.2_Missense_Mutation_p.D270Y NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 427 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 GCTGTCCACTGACGTGGTATG 0.572 16 91 --- --- --- --- PASS IL3RA 3563 broad.mit.edu 37 X 1464294 1464294 + Silent SNP C T T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chrX:1464294C>T uc004cps.2 + 3 499 c.150C>T c.(148-150)ATC>ATT p.I50I IL3RA_uc011mhd.1_Intron NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 50 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGACCGATATCGAGTGTGTTA 0.343 20 317 --- --- --- --- PASS KDM5C 8242 broad.mit.edu 37 X 53241055 53241055 + Missense_Mutation SNP C G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chrX:53241055C>G uc004drz.2 - 9 1689 c.1156G>C c.(1156-1158)GAG>CAG p.E386Q KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.E319Q|KDM5C_uc004dsa.2_Missense_Mutation_p.E385Q NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 386 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GTAGCCTGCTCAAAGCCAAAG 0.522 N|F|S clear cell renal carcinoma 7 23 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111078161 111078161 + Silent SNP A G G TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 3c90209b-b6f6-40b2-a374-6cd37d6d3895 ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b g.chrX:111078161A>G uc004epl.1 - 7 2803 c.1884T>C c.(1882-1884)TAT>TAC p.Y628Y TRPC5_uc004epm.1_Silent_p.Y628Y NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 628 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CAATAAGCTGATAGGAGTTGT 0.433 71 197 --- --- --- --- PASS