Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut VPS13D 55187 broad.mit.edu 37 1 12331121 12331121 + Silent SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:12331121G>A uc001atv.2 + 17 2184 c.2043G>A c.(2041-2043)AAG>AAA p.K681K VPS13D_uc001atw.2_Silent_p.K681K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 681 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACAAGCTGAAGATGCAGACCA 0.458 NA 4 52 0 0 0 0 NFYC 4802 broad.mit.edu 37 1 41228713 41228713 + Missense_Mutation SNP A A T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:41228713A>T uc001cge.2 + 6 723 c.715A>T c.(715-717)ATC>TTC p.I239F NFYC_uc010ojm.1_Missense_Mutation_p.I145F|NFYC_uc001cfx.3_Missense_Mutation_p.I239F|NFYC_uc009vwd.2_Missense_Mutation_p.I239F|NFYC_uc001cfz.2_Missense_Mutation_p.I239F|NFYC_uc010ojn.1_Missense_Mutation_p.I201F|NFYC_uc001cfy.3_Missense_Mutation_p.I239F|NFYC_uc001cgc.2_Missense_Mutation_p.I205F|NFYC_uc001cgb.2_Missense_Mutation_p.I239F|NFYC_uc001cgd.3_Missense_Mutation_p.I239F NM_001142588 NP_001136060 Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma isoform 1 239 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|kidney(1) 3 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GATCCAGCAGATCCCGGTGAG 0.433 NA 8 11 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43912750 43912750 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:43912750G>A uc001cjk.1 + 51 6962 c.6500G>A c.(6499-6501)CGG>CAG p.R2167Q KIAA0467_uc001cjl.1_Missense_Mutation_p.R155Q NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3066 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGGTGCTGCGGCACGGCTAC 0.597 NA 3 31 0 0 0 0 ACOT11 26027 broad.mit.edu 37 1 55058224 55058224 + Missense_Mutation SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:55058224G>T uc001cxm.1 + 4 399 c.317G>T c.(316-318)GGA>GTA p.G106V ACOT11_uc001cxj.1_5'UTR|ACOT11_uc001cxk.2_Missense_Mutation_p.G72V|ACOT11_uc001cxl.1_Missense_Mutation_p.G106V NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 106 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 CCCAGTGTTGGACAAGTGGTG 0.607 NA 13 53 4.37e-10 5.4e-10 1 0 CCDC18 343099 broad.mit.edu 37 1 93680428 93680428 + Missense_Mutation SNP T T A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:93680428T>A uc001dpq.2 + 12 2146 c.1978T>A c.(1978-1980)TTG>ATG p.L660M CCDC18_uc009wdl.1_Missense_Mutation_p.L221M NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 541 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAATTCTGATTTGAAGGTTAA 0.378 NA 3 27 0 0 0 0 VPS72 6944 broad.mit.edu 37 1 151149264 151149264 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:151149264C>T uc001exe.1 - 6 994 c.951G>A c.(949-951)AAG>AAA p.K317K TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank NM_005997 NP_005988 Q15906 VPS72_HUMAN transcription factor-like 1 317 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|pancreas(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CACGAATGATCTTGAAGGCTC 0.597 NA 8 88 0 0 0 0 LINGO4 339398 broad.mit.edu 37 1 151774040 151774040 + Missense_Mutation SNP A A G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:151774040A>G uc001ezf.1 - 2 1331 c.1141T>C c.(1141-1143)TCC>CCC p.S381P NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 381 Extracellular (Potential).|LRRCT. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCAGGGGGGGACATGCCAAAG 0.622 NA 10 55 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661264 176661264 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:176661264G>A uc001gkz.2 + 6 3598 c.2434G>A c.(2434-2436)GAT>AAT p.D812N PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 812 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CTCCACAGATGATAACTGCAC 0.458 NA OREG0014001 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 76 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196918742 196918742 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:196918742C>T uc001gtq.1 + 2 293 c.216C>T c.(214-216)TGC>TGT p.C72C CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 72 Sushi 1. extracellular region skin(2)|ovary(1) 3 GCATAACGTGCGCAGAAGAAG 0.408 NA 9 21 0 0 0 0 NFASC 23114 broad.mit.edu 37 1 204978741 204978741 + Missense_Mutation SNP T T G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:204978741T>G uc001hbj.2 + 28 3674 c.3346T>G c.(3346-3348)TGC>GGC p.C1116G NFASC_uc010pra.1_Missense_Mutation_p.C1050G|NFASC_uc001hbi.2_Missense_Mutation_p.C1045G|NFASC_uc010prb.1_Missense_Mutation_p.C1065G|NFASC_uc010prc.1_Missense_Mutation_p.C616G|NFASC_uc001hbl.1_Missense_Mutation_p.C192G|NFASC_uc001hbm.1_Missense_Mutation_p.C139G|NFASC_uc009xbh.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1223 Helical; (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGGGCTTATGTGCGCCATCGC 0.592 NA 7 49 0 0 0 0 VASH2 79805 broad.mit.edu 37 1 213147325 213147325 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:213147325C>T uc001hjy.2 + 6 1112 c.908C>T c.(907-909)CCG>CTG p.P303L VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.P238L|VASH2_uc010ptn.1_Missense_Mutation_p.P199L|VASH2_uc001hjw.2_Missense_Mutation_p.P259L NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN vasohibin 2 isoform 3 303 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm 0 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) GCCCACTCTCCGACCCAAGTG 0.567 NA 4 58 0 0 0 0 DISP1 84976 broad.mit.edu 37 1 223178539 223178539 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:223178539T>C uc001hnu.1 + 8 3947 c.3800T>C c.(3799-3801)CTG>CCG p.L1267P NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1267 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TTCTTCTCTCTGAATCAGAGA 0.517 NA 3 149 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228467143 228467143 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr1:228467143C>T uc009xez.1 + 27 7438 c.7394C>T c.(7393-7395)TCA>TTA p.S2465L OBSCN_uc001hsn.2_Missense_Mutation_p.S2465L|OBSCN_uc001hsp.1_Missense_Mutation_p.S164L|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2465 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTGGTGGTCTCAGGTGAGCAC 0.682 NA 4 38 0 0 0 0 ZNF22 7570 broad.mit.edu 37 10 45498926 45498926 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr10:45498926T>C uc001jbw.2 + 2 353 c.110T>C c.(109-111)ATT>ACT p.I37T C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA NM_006963 NP_008894 P17026 ZNF22_HUMAN zinc finger protein 22 (KOX 15) 37 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding breast(1)|kidney(1) 2 Prostate(175;0.0352)|all_neural(218;0.202) GGCATGACTATTCGATTTGAC 0.463 NA 14 52 0 0 0 0 DYDC2 84332 broad.mit.edu 37 10 82126492 82126492 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr10:82126492G>A uc001kca.1 + 5 699 c.319G>A c.(319-321)GAG>AAG p.E107K DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.E107K NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 107 protein binding 0 Colorectal(32;0.229) ATTCATGCAGGAGGACACAAA 0.438 NA 33 115 0 0 0 0 HELLS 3070 broad.mit.edu 37 10 96350210 96350210 + Missense_Mutation SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr10:96350210G>T uc001kjt.2 + 14 1634 c.1529G>T c.(1528-1530)CGA>CTA p.R510L HELLS_uc001kjs.2_Missense_Mutation_p.R494L|HELLS_uc009xul.2_Missense_Mutation_p.R412L|HELLS_uc009xum.2_Missense_Mutation_p.R380L|HELLS_uc009xun.2_Missense_Mutation_p.R386L|HELLS_uc009xuo.2_Missense_Mutation_p.R556L|HELLS_uc001kju.2_Missense_Mutation_p.R149L|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R372L|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 510 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) CGACCAAAACGACGAACTAGA 0.343 NA 12 46 2.27e-07 2.69e-07 1 0 PTPRE 5791 broad.mit.edu 37 10 129839235 129839235 + Silent SNP C C T rs144835853 TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr10:129839235C>T uc001lkb.2 + 3 369 c.90C>T c.(88-90)AAC>AAT p.N30N PTPRE_uc009yat.2_Silent_p.N41N|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Silent_p.N30N|PTPRE_uc001lkc.1_RNA NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 30 Extracellular (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CCGACAGCAACGAGACAACCA 0.607 NA 4 23 0 0 0 0 LGR4 55366 broad.mit.edu 37 11 27395209 27395209 + Missense_Mutation SNP T T A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr11:27395209T>A uc001mrj.3 - 15 1753 c.1268A>T c.(1267-1269)AAT>ATT p.N423I LGR4_uc001mrk.3_Missense_Mutation_p.N399I NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 423 LRR 15.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 AGTTAATTCATTGAAACTTAC 0.333 NA 18 25 0 0 0 0 OR4D10 390197 broad.mit.edu 37 11 59245249 59245249 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr11:59245249C>T uc001nnz.1 + 1 347 c.347C>T c.(346-348)TCG>TTG p.S116L NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TTTTCTCTTTCGGTGATGGCA 0.478 NA 25 68 0 0 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275560 130275560 + Nonsense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr11:130275560G>A uc001qgg.3 - 9 2921 c.2563C>T c.(2563-2565)CGA>TGA p.R855* ADAMTS8_uc001qgf.2_Nonsense_Mutation_p.R336* NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 855 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TCTACAGTTCGCCTCTGCCAG 0.652 NA 5 86 0 0 0 0 SRGAP1 57522 broad.mit.edu 37 12 64456755 64456755 + Missense_Mutation SNP C C G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr12:64456755C>G uc010ssp.1 + 7 916 c.860C>G c.(859-861)GCG>GGG p.A287G SRGAP1_uc001srt.2_Missense_Mutation_p.A287G|SRGAP1_uc001srv.2_Missense_Mutation_p.A247G NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 287 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TATCTGTCTGCGGAGTACAAC 0.373 NA 7 30 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109696115 109696115 + Silent SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr12:109696115G>T uc001tob.2 + 46 6425 c.6306G>T c.(6304-6306)CGG>CGT p.R2102R ACACB_uc001toc.2_Silent_p.R2102R|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.R768R NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2102 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TGGAGACACGGACTGTGGAGG 0.632 NA 9 32 2.18e-05 2.5e-05 1 0 MED13L 23389 broad.mit.edu 37 12 116408480 116408480 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr12:116408480T>C uc001tvw.2 - 27 6041 c.5986A>G c.(5986-5988)ATC>GTC p.I1996V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1996 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AACACCAAGATGTGTGTACAA 0.478 NA 11 47 0 0 0 0 SPATA13 221178 broad.mit.edu 37 13 24876816 24876816 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr13:24876816G>A uc001upg.1 + 12 2271 c.1864G>A c.(1864-1866)GTC>ATC p.V622I SPATA13_uc001upd.1_Missense_Mutation_p.V1247I|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_Missense_Mutation_p.R569H|SPATA13_uc010tcz.1_Missense_Mutation_p.V506I|SPATA13_uc010tda.1_Missense_Mutation_p.V566I|SPATA13_uc001uph.2_Missense_Mutation_p.V544I|SPATA13_uc010tdb.1_Missense_Mutation_p.V482I|SPATA13_uc009zzz.1_Missense_Mutation_p.R179H NM_153023 NP_694568 Q96N96 SPT13_HUMAN spermatogenesis associated 13 622 C-terminal tail. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GCCCACAAGCGTCCCCCAGCA 0.622 NA 29 102 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99449739 99449739 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr13:99449739T>C uc001vnt.2 - 53 6021 c.5966A>G c.(5965-5967)AAT>AGT p.N1989S DOCK9_uc001vnw.2_Missense_Mutation_p.N1988S|DOCK9_uc001vnq.2_Missense_Mutation_p.N536S|DOCK9_uc001vnr.2_Missense_Mutation_p.N618S|DOCK9_uc010tin.1_Missense_Mutation_p.N607S|DOCK9_uc001vns.2_Missense_Mutation_p.N524S|DOCK9_uc010tio.1_Missense_Mutation_p.N644S|DOCK9_uc010tip.1_Missense_Mutation_p.N685S NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1989 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGGCCAGCATTGACCTAGAC 0.428 NA 4 18 0 0 0 0 MNAT1 4331 broad.mit.edu 37 14 61201602 61201602 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr14:61201602C>T uc001xfd.2 + 1 133 c.22C>T c.(22-24)CGG>TGG p.R8W MNAT1_uc010apq.1_Missense_Mutation_p.R8W|MNAT1_uc001xfe.2_Missense_Mutation_p.R8W NM_002431 NP_002422 P51948 MAT1_HUMAN menage a trois 1 (CAK assembly factor) 8 RING-type. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cytoplasm|holo TFIIH complex protein N-terminus binding|zinc ion binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.0174) GGGTTGCCCTCGGTGTAAGAC 0.592 NA Direct_reversal_of_damage|NER 6 65 0 0 0 0 EIF2B2 8892 broad.mit.edu 37 14 75469994 75469994 + Silent SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr14:75469994G>T uc001xrc.1 + 2 262 c.180G>T c.(178-180)CTG>CTT p.L60L NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 60 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) TGATGGAGCTGATCCGCAGAG 0.582 NA 8 23 1.07e-07 1.28e-07 1 0 LCMT2 9836 broad.mit.edu 37 15 43622318 43622318 + Missense_Mutation SNP C C G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr15:43622318C>G uc001zrg.2 - 1 574 c.370G>C c.(370-372)GAA>CAA p.E124Q LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 124 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CCAATCCTTTCTGCTTTGCGC 0.627 NA 3 99 0 0 0 0 MTHFS 10588 broad.mit.edu 37 15 80181637 80181637 + Silent SNP T T C rs142942013 TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr15:80181637T>C uc002bex.3 - 2 217 c.177A>G c.(175-177)CAA>CAG p.Q59Q NM_006441 NP_006432 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase 59 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding 0 all cancers(203;0.00467) CAATTTCATCTTGCATGCTCA 0.398 NA 12 61 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90168446 90168446 + Silent SNP C C A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr15:90168446C>A uc002boe.2 + 20 4905 c.4905C>A c.(4903-4905)GGC>GGA p.G1635G C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1635 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) GCACACCTGGCAAGAGCAGGG 0.612 NA 8 54 0.000274275 0.00030856 1 0 PTX4 390667 broad.mit.edu 37 16 1537325 1537325 + Missense_Mutation SNP G G C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr16:1537325G>C uc010uvf.1 - 2 773 c.773C>G c.(772-774)CCA>CGA p.P258R NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 263 extracellular region metal ion binding 0 ACTCTCTCCTGGCACCTGGGG 0.587 NA 9 45 0 0 0 0 AARS 16 broad.mit.edu 37 16 70295032 70295032 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr16:70295032T>C uc002eyn.1 - 13 1810 c.1700A>G c.(1699-1701)CAG>CGG p.Q567R AARS_uc010vlu.1_Missense_Mutation_p.Q397R NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 567 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TCCTCGGACCTGAGCATTCTT 0.398 NA 3 70 0 0 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325275 77325275 + Missense_Mutation SNP C C T rs150975249 byFrequency TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr16:77325275C>T uc002ffc.3 - 21 3709 c.3290G>A c.(3289-3291)CGT>CAT p.R1097H NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1097 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CTTAATATTACGGCATCTTCG 0.502 NA 23 234 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 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) 11 33 0 0 0 0 TMEM104 54868 broad.mit.edu 37 17 72791738 72791738 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr17:72791738C>T uc002jls.3 + 8 765 c.603C>T c.(601-603)CCC>CCT p.P201P TMEM104_uc010wrf.1_Silent_p.P201P|TMEM104_uc010wrg.1_Silent_p.P214P|TMEM104_uc010dfx.2_Silent_p.P201P NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 201 Extracellular (Potential). integral to membrane 0 all_lung(278;0.23) GCTGGGGGCCCCTGCGCCGAG 0.607 NA 9 30 0 0 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6264018 6264018 + Missense_Mutation SNP C C A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr18:6264018C>A uc002kmz.3 - 5 307 c.147G>T c.(145-147)CAG>CAT p.Q49H L3MBTL4_uc010dkt.2_Missense_Mutation_p.Q49H NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 49 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) ACCATGCTCCCTGTGCAGCCG 0.423 NA 8 81 0.00448238 0.00491969 1 0 ALPK2 115701 broad.mit.edu 37 18 56171233 56171233 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr18:56171233C>T uc002lhj.3 - 11 6391 c.6177G>A c.(6175-6177)CAG>CAA p.Q2059Q NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 2059 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TGCAACATTTCTGACCAGCTT 0.488 NA 8 116 0 0 0 0 FZR1 51343 broad.mit.edu 37 19 3526259 3526259 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr19:3526259G>A uc010dtk.2 + 4 296 c.262G>A c.(262-264)GGC>AGC p.G88S FZR1_uc002lxt.2_Missense_Mutation_p.G88S|FZR1_uc002lxv.2_Missense_Mutation_p.G88S NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 88 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCGCAGACGGCCTGGCCTA 0.677 NA 6 19 0 0 0 0 NCR1 9437 broad.mit.edu 37 19 55421380 55421380 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr19:55421380G>A uc002qib.2 + 5 675 c.637G>A c.(637-639)GAC>AAC p.D213N NCR1_uc002qic.2_Missense_Mutation_p.D213N|NCR1_uc002qie.2_Missense_Mutation_p.D213N|NCR1_uc002qid.2_Missense_Mutation_p.D118N|NCR1_uc002qif.2_Missense_Mutation_p.D118N|NCR1_uc010esj.2_Missense_Mutation_p.D106N NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 213 Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TTTTCCAGGCGACATTGAGAA 0.398 NA 4 144 0 0 0 0 ZNF324 25799 broad.mit.edu 37 19 58983227 58983227 + Silent SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr19:58983227G>A uc002qsw.1 + 4 1462 c.1368G>A c.(1366-1368)GTG>GTA p.V456V ZNF324_uc002qsx.1_Silent_p.V233V NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 456 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TCCGCTGCGTGGACTGTGGCA 0.692 NA 21 66 0 0 0 0 SLC30A3 7781 broad.mit.edu 37 2 27480853 27480853 + Silent SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:27480853G>T uc002rjk.2 - 4 684 c.498C>A c.(496-498)GTC>GTA p.V166V SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.V161V NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 166 Helical; (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGCAGGCGGACGAAGGCCA 0.627 NA 13 42 1.62e-10 2.01e-10 1 0 SLC30A6 55676 broad.mit.edu 37 2 32422829 32422829 + Missense_Mutation SNP C C A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:32422829C>A uc002roe.1 + 10 636 c.599C>A c.(598-600)CCA>CAA p.P200Q SLC30A6_uc002rof.1_Missense_Mutation_p.P240Q|SLC30A6_uc010ymw.1_Missense_Mutation_p.P171Q|SLC30A6_uc010ezr.1_Missense_Mutation_p.P200Q|SLC30A6_uc002rog.1_Missense_Mutation_p.P3Q|SLC30A6_uc010ezs.1_Missense_Mutation_p.P126Q|SLC30A6_uc002roh.1_Missense_Mutation_p.P3Q NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 200 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CGAATGAATCCATTTGTTTTG 0.338 NA 23 77 1.38e-19 1.75e-19 1 0 BCL11A 53335 broad.mit.edu 37 2 60688312 60688312 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:60688312C>T uc002sae.1 - 4 1963 c.1735G>A c.(1735-1737)GAG>AAG p.E579K BCL11A_uc002sab.2_Missense_Mutation_p.E579K|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.E248K|BCL11A_uc010ypj.1_Missense_Mutation_p.E545K|BCL11A_uc002sad.1_Missense_Mutation_p.E427K|BCL11A_uc002saf.1_Missense_Mutation_p.E545K NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 579 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTGTGGCCCTCGGCCTCGGCC 0.667 NA T IGH@ B-CLL 5 39 0 0 0 0 GPAT2 150763 broad.mit.edu 37 2 96689170 96689170 + Missense_Mutation SNP C C A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:96689170C>A uc002svf.2 - 18 2138 c.1915G>T c.(1915-1917)GCC>TCC p.A639S GPAT2_uc002svd.2_Missense_Mutation_p.A458S|GPAT2_uc002sve.2_Missense_Mutation_p.A441S|GPAT2_uc002svg.2_Missense_Mutation_p.A518S|GPAT2_uc010yuh.1_Missense_Mutation_p.A568S|GPAT2_uc002svh.2_Intron NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 639 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 GTGTCACAGGCTGGCCGGGAG 0.587 NA 5 47 3.6e-05 4.11e-05 1 0 NMS 129521 broad.mit.edu 37 2 101096979 101096979 + Missense_Mutation SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:101096979G>T uc002tan.1 + 7 365 c.358G>T c.(358-360)GAC>TAC p.D120Y NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 120 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 TGCTGCAGTGGACTTCACCAA 0.557 NA 11 48 2.63e-14 3.32e-14 1 0 NEB 4703 broad.mit.edu 37 2 152534283 152534283 + Silent SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:152534283G>A uc010fnx.2 - 34 3761 c.3570C>T c.(3568-3570)AAC>AAT p.N1190N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1190 Nebulin 29. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCTTGTAGACGTTCTACAGCA 0.463 NA 43 166 0 0 0 0 PLA2R1 22925 broad.mit.edu 37 2 160825846 160825846 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:160825846T>C uc002ube.1 - 19 2892 c.2685A>G c.(2683-2685)ATA>ATG p.I895M PLA2R1_uc010zcp.1_Missense_Mutation_p.I895M|PLA2R1_uc002ubf.2_Missense_Mutation_p.I895M NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 895 Extracellular (Potential).|C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 AGTTCTGGTATATCACTGGTG 0.393 NA 8 41 0 0 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545236 234545236 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr2:234545236C>T uc002vur.2 + 1 114 c.68C>T c.(67-69)GCC>GTC p.A23V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.A23V NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 23 MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TGTGGCTTTGCCGAGGCAGGG 0.592 NA 4 101 0 0 0 0 MAVS 57506 broad.mit.edu 37 20 3845265 3845265 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr20:3845265T>C uc002wjw.3 + 6 1157 c.988T>C c.(988-990)TCA>CCA p.S330P MAVS_uc002wjx.3_Missense_Mutation_p.S189P|MAVS_uc002wjy.3_Missense_Mutation_p.S28P NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 330 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 GCCAACTAGCTCAAAGCCCCC 0.552 NA 4 113 0 0 0 0 BMP2 650 broad.mit.edu 37 20 6758934 6758934 + Missense_Mutation SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr20:6758934G>T uc002wmu.1 + 3 1174 c.389G>T c.(388-390)CGG>CTG p.R130L NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 130 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) AAAACAACCCGGAGATTCTTC 0.393 NA 5 41 1.02e-07 1.24e-07 1 0 ADRBK2 157 broad.mit.edu 37 22 26114347 26114347 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr22:26114347G>A uc003abx.3 + 19 1937 c.1790G>A c.(1789-1791)CGG>CAG p.R597Q ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 597 PH. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) GGAGAGTCCCGGGTAAGTCTA 0.453 NA 13 72 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49688471 49688471 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr3:49688471G>A uc003cxe.3 + 4 2059 c.1945G>A c.(1945-1947)GTC>ATC p.V649I NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 649 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CACCCCTGTCGTCAAGGCTGT 0.592 NA 9 55 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69885860 69885860 + Missense_Mutation SNP C C G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr4:69885860C>G uc011cao.1 - 2 245 c.109G>C c.(109-111)GAA>CAA p.E37Q UGT2B10_uc011can.1_Missense_Mutation_p.E37Q P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 74 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GGATAAACTTCGAGTTTAAGA 0.358 NA 22 55 0 0 0 0 EMCN 51705 broad.mit.edu 37 4 101386581 101386581 + Missense_Mutation SNP C C A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr4:101386581C>A uc003hvr.2 - 4 554 c.375G>T c.(373-375)AAG>AAT p.K125N EMCN_uc011cel.1_Missense_Mutation_p.K125N|EMCN_uc011cem.1_Missense_Mutation_p.K125N NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 125 Thr-rich.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) CATACTTACTCTTGGGTTTGG 0.373 NA 16 48 4.75e-09 5.85e-09 1 0 TBCK 93627 broad.mit.edu 37 4 107170083 107170083 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr4:107170083T>C uc010ilv.2 - 8 1080 c.715A>G c.(715-717)ATA>GTA p.I239V TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Missense_Mutation_p.I200V|TBCK_uc003hyc.2_Missense_Mutation_p.I176V|TBCK_uc003hyd.2_Missense_Mutation_p.I67V|TBCK_uc003hyf.2_Missense_Mutation_p.I239V NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 239 Protein kinase. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 CAAACCTTTATAATGTCCAAA 0.179 NA 7 19 0 0 0 0 CDH18 1016 broad.mit.edu 37 5 19721469 19721469 + Silent SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr5:19721469G>A uc003jgc.2 - 4 1007 c.630C>T c.(628-630)GTC>GTT p.V210V CDH18_uc003jgd.2_Silent_p.V210V|CDH18_uc011cnm.1_Silent_p.V210V NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 210 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTTTAGGGTCGACGGAGAAGT 0.453 NA 22 70 0 0 0 0 PDE4D 5144 broad.mit.edu 37 5 58270507 58270507 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr5:58270507C>T uc003jsa.2 - 15 2586 c.2414G>A c.(2413-2415)CGT>CAT p.R805H PDE4D_uc003jrx.2_Missense_Mutation_p.R669H|PDE4D_uc003jry.2_Missense_Mutation_p.R503H|PDE4D_uc003jrz.2_Missense_Mutation_p.R741H|PDE4D_uc003jsb.2_Missense_Mutation_p.R744H|PDE4D_uc003jrt.2_Missense_Mutation_p.R503H|PDE4D_uc003jru.2_Missense_Mutation_p.R581H|PDE4D_uc003jrv.2_Missense_Mutation_p.R675H|PDE4D_uc003jrw.2_Missense_Mutation_p.R683H|PDE4D_uc003jrs.2_Missense_Mutation_p.R514H NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 805 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GTCAGGAGAACGATCATCTAT 0.433 NA 29 140 0 0 0 0 CARTPT 9607 broad.mit.edu 37 5 71016344 71016344 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr5:71016344G>A uc003kbv.1 + 3 380 c.253G>A c.(253-255)GGT>AGT p.G85S NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript 85 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) GTGTGACGCCGGTGAGCAGTG 0.507 NA 6 8 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141334957 141334957 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr5:141334957C>T uc003llx.2 - 1 3671 c.2460G>A c.(2458-2460)CCG>CCA p.P820P NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 820 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACAGGGTCGGGGTGAGGT 0.612 NA 12 34 0 0 0 0 PRICKLE4 29964 broad.mit.edu 37 6 41753268 41753268 + Missense_Mutation SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr6:41753268C>T uc011duf.1 + 6 820 c.572C>T c.(571-573)GCT>GTT p.A191V PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank NM_013397 NP_037529 Q2TBC4 PRIC4_HUMAN over-expressed breast tumor protein 151 LIM zinc-binding 2. nucleus zinc ion binding 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CGCTGCCCGGCTTGTGACCAG 0.602 NA 4 28 0 0 0 0 C6orf170 221322 broad.mit.edu 37 6 121401926 121401926 + Missense_Mutation SNP C C G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr6:121401926C>G uc003pyo.1 - 32 3833 c.3765G>C c.(3763-3765)CAG>CAC p.Q1255H NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 1255 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) TCTATGTGCTCTGCAGTCTAA 0.378 NA 6 41 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155450592 155450592 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr6:155450592G>A uc003qqb.2 + 6 1508 c.235G>A c.(235-237)GGT>AGT p.G79S TIAM2_uc003qqe.2_Missense_Mutation_p.G79S NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 79 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ATCGAGACTCGGTGGCCCCAC 0.562 NA 8 33 0 0 0 0 NOD1 10392 broad.mit.edu 37 7 30485828 30485828 + Silent SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr7:30485828G>A uc003tav.2 - 9 2905 c.2382C>T c.(2380-2382)AAC>AAT p.N794N NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 794 LRR 5. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TTGTTATTTTGTTTTTTCCCA 0.522 NA 13 147 0 0 0 0 CCDC132 55610 broad.mit.edu 37 7 92987685 92987685 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr7:92987685C>T uc003umo.2 + 28 2960 c.2832C>T c.(2830-2832)ATC>ATT p.I944I CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.I914I|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.I664I NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 944 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GATCCCATATCAATAAGAAAG 0.383 NA 7 53 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829390 146829390 + Silent SNP C C T rs78543192 byFrequency TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr7:146829390C>T uc003weu.1 + 8 1653 c.1137C>T c.(1135-1137)AAC>AAT p.N379N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 379 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCTTTTTCAACGCTACAAGTT 0.458 NA HNSCC(39;0.1) 12 89 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2796121 2796121 + Missense_Mutation SNP A A G TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr8:2796121A>G uc011kwk.1 - 70 11074 c.10684T>C c.(10684-10686)TGT>CGT p.C3562R CSMD1_uc011kwj.1_Missense_Mutation_p.C2876R|CSMD1_uc010lrg.2_Missense_Mutation_p.C1453R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3562 Cytoplasmic (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) ACCACTGTACAGACTGTGTTC 0.468 NA 5 19 0 0 0 0 SGK223 157285 broad.mit.edu 37 8 8185602 8185602 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr8:8185602G>A uc003wsh.3 - 4 2690 c.2690C>T c.(2689-2691)GCG>GTG p.A897V NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 897 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TCTGTTGCCCGCCAGCCCTGC 0.662 NA 31 139 0 0 0 0 FAM150A 389658 broad.mit.edu 37 8 53452412 53452412 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr8:53452412T>C uc003xrd.2 - 3 509 c.304A>G c.(304-306)AGG>GGG p.R102G FAM150A_uc011ldt.1_Missense_Mutation_p.R102G NM_207413 NP_997296 Q6UXT8 F150A_HUMAN hypothetical protein LOC389658 precursor 102 extracellular region 0 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) GAGCACTCCCTGGTATTGTAA 0.373 NA 3 51 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144997709 144997709 + Missense_Mutation SNP G G C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr8:144997709G>C uc003zaf.1 - 31 6969 c.6799C>G c.(6799-6801)CAG>GAG p.Q2267E PLEC_uc003zab.1_Missense_Mutation_p.Q2130E|PLEC_uc003zac.1_Missense_Mutation_p.Q2134E|PLEC_uc003zad.2_Missense_Mutation_p.Q2130E|PLEC_uc003zae.1_Missense_Mutation_p.Q2098E|PLEC_uc003zag.1_Missense_Mutation_p.Q2108E|PLEC_uc003zah.2_Missense_Mutation_p.Q2116E|PLEC_uc003zaj.2_Missense_Mutation_p.Q2157E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2267 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCTGTGCCTGAGCCCGGGCC 0.746 NA 3 25 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974684 21974684 + Missense_Mutation SNP G G A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr9:21974684G>A uc003zpk.2 - 1 355 c.143C>T c.(142-144)CCG>CTG p.P48L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.P48L|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 48 ANK 2. P -> L (in CMM2 and a head and neck tumor; somatic mutation). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(25)|p.P48L(9)|p.P48P(1)|p.P48R(1)|p.V28_V51del(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CACCTGGATCGGCCTCCGACC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 53 141 0 0 0 0 LINGO2 158038 broad.mit.edu 37 9 27949442 27949442 + Missense_Mutation SNP G G T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr9:27949442G>T uc003zqu.1 - 2 1422 c.1228C>A c.(1228-1230)CCC>ACC p.P410T LINGO2_uc010mjf.1_Missense_Mutation_p.P410T|LINGO2_uc003zqv.1_Missense_Mutation_p.P410T NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 410 Ig-like C2-type.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGGATTTTGGGTTTTTTGCAG 0.488 NA 12 50 3.07e-06 3.58e-06 1 0 PHF2 5253 broad.mit.edu 37 9 96418259 96418259 + Silent SNP C C T TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr9:96418259C>T uc004aub.2 + 8 1143 c.996C>T c.(994-996)TTC>TTT p.F332F PHF2_uc011lug.1_Silent_p.F215F NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 332 JmjC. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GCCTGGCCTTCGCGGGACATT 0.637 NA 3 16 0 0 0 0 SLC44A1 23446 broad.mit.edu 37 9 108097866 108097866 + Missense_Mutation SNP T T C TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr9:108097866T>C uc004bcn.2 + 4 513 c.292T>C c.(292-294)TGC>CGC p.C98R SLC44A1_uc010mtk.1_Missense_Mutation_p.C98R NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 98 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) TTTGGATCCATGCAACCTGGA 0.403 NA 9 81 0 0 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913257 77913257 + Missense_Mutation SNP C C A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chrX:77913257C>A uc004edc.1 - 2 957 c.661G>T c.(661-663)GCT>TCT p.A221S NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 221 nucleic acid binding|zinc ion binding ovary(1) 1 AACTCTGAAGCTGCTGATGTC 0.517 NA 5 26 0.000602214 0.000674121 1 0 FMR1NB 158521 broad.mit.edu 37 X 147084786 147084786 + Missense_Mutation SNP T T A TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chrX:147084786T>A uc004fcm.2 + 2 417 c.343T>A c.(343-345)TCT>ACT p.S115T NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 115 Extracellular (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TCATGGCCAATCTCTGGAAGA 0.363 NA 23 40 0 0 0 0 FAM118B 79607 broad.mit.edu 37 11 126126642 126126642 + Frame_Shift_Del DEL A A - TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr11:126126642delA uc001qdf.2 + 7 1060 c.877delA c.(877-879)ATGfs p.M293fs FAM118B_uc009zca.2_Frame_Shift_Del_p.M297fs|FAM118B_uc001qdg.2_Frame_Shift_Del_p.M293fs NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 293 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TCGAGAAAACATGCTGGACAA 0.453 NA 32 140 --- --- --- --- NA NA NA NA HTT 3064 broad.mit.edu 37 4 3156043 3156043 + Frame_Shift_Del DEL C C - TCGA-CV-7180-01A-11D-2012-08 TCGA-CV-7180-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4233a363-ba28-495c-8590-644199c33d64 06b27da1-e2ad-4177-ba32-e23374a18309 g.chr4:3156043delC uc011bvq.1 + 28 3673 c.3528delC c.(3526-3528)AACfs p.N1176fs NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1174 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTCTAACAAACCCCCCTTCTC 0.383 NA 5 9 --- --- --- --- NA NA NA NA