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 KTI12 112970 broad.mit.edu 37 1 52498549 52498549 + Silent SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:52498549C>A uc001ctj.1 - 1 924 c.885G>T c.(883-885)GGG>GGT p.G295G TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 295 ATP binding central_nervous_system(2) 2 TGAGCAAGTCCCCGGGGACAG 0.597 NA 58 45 2.12e-23 4.35e-23 1 0 DPYD 1806 broad.mit.edu 37 1 97771778 97771778 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:97771778G>C uc001drv.2 - 17 2271 c.2134C>G c.(2134-2136)CCA>GCA p.P712A NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 712 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GTGACATTTGGGGTCAGCTTG 0.448 NA 34 146 0 0 0 0 AMY2A 279 broad.mit.edu 37 1 104160645 104160645 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:104160645G>T uc001dut.2 + 2 302 c.238G>T c.(238-240)GTT>TTT p.V80F AMY2A_uc010ouq.1_Missense_Mutation_p.V80F NM_000699 NP_000690 P04746 AMYP_HUMAN pancreatic amylase alpha 2A precursor 80 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding ovary(1)|skin(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ATACCAACCAGTTAGCTATAA 0.353 NA 54 76 2.27e-33 4.71e-33 1 0 YY1AP1 55249 broad.mit.edu 37 1 155629472 155629472 + Silent SNP T T A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:155629472T>A uc001fln.2 - 11 2391 c.2367A>T c.(2365-2367)ACA>ACT p.T789T YY1AP1_uc001flg.2_Silent_p.T528T|YY1AP1_uc010pgg.1_Silent_p.T628T|YY1AP1_uc010pgh.1_Silent_p.T732T|YY1AP1_uc010pgi.1_Silent_p.T881T|YY1AP1_uc001flh.2_Silent_p.T861T|YY1AP1_uc009wqt.2_Silent_p.T712T|YY1AP1_uc001flk.2_Silent_p.T732T|YY1AP1_uc001fll.2_Silent_p.T743T|YY1AP1_uc009wqv.2_Silent_p.T460T|YY1AP1_uc001flm.2_Silent_p.T732T|YY1AP1_uc001fli.2_Silent_p.T743T|YY1AP1_uc009wqu.2_Silent_p.T576T|YY1AP1_uc001flj.2_Silent_p.T723T|YY1AP1_uc009wqw.2_Silent_p.T712T|YY1AP1_uc001flo.2_Silent_p.T677T|YY1AP1_uc001flp.2_Silent_p.T743T NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 789 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TGATTTCCTCTGTAGCATCTT 0.378 NA 7 213 0 0 0 0 SEMA4A 64218 broad.mit.edu 37 1 156142765 156142765 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:156142765G>A uc001fnl.2 + 11 1387 c.1283G>A c.(1282-1284)GGG>GAG p.G428E SEMA4A_uc009wrq.2_Missense_Mutation_p.G428E|SEMA4A_uc001fnm.2_Missense_Mutation_p.G428E|SEMA4A_uc001fnn.2_Missense_Mutation_p.G296E|SEMA4A_uc001fno.2_Missense_Mutation_p.G428E NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 428 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) GGCCTTGATGGGCACAGCCAT 0.577 NA 11 41 0 0 0 0 UCK2 7371 broad.mit.edu 37 1 165860556 165860556 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:165860556C>G uc001gdp.2 + 3 534 c.353C>G c.(352-354)TCC>TGC p.S118C UCK2_uc010plb.1_Missense_Mutation_p.P28A NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 118 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) GTCTCCCATTCCCGGTAAGTG 0.502 NA 7 20 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186158872 186158872 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:186158872G>A uc001grq.1 + 107 16999 c.16770G>A c.(16768-16770)GTG>GTA p.V5590V HMCN1_uc001grs.1_Silent_p.V1042V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5590 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGAAAGGAGTGGTGTATACAA 0.493 NA 19 32 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215847971 215847971 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:215847971C>T uc001hku.1 - 63 13669 c.13282G>A c.(13282-13284)GGT>AGT p.G4428S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4428 Extracellular (Potential).|Fibronectin type-III 29. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTGTGCAACCTCCATTCGTG 0.512 NA HNSCC(13;0.011) 4 53 0 0 0 0 TGFB2 7042 broad.mit.edu 37 1 218520300 218520300 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:218520300C>T uc001hlm.2 + 1 910 c.257C>T c.(256-258)GCG>GTG p.A86V TGFB2_uc001hll.2_Missense_Mutation_p.A86V|TGFB2_uc001hln.2_Missense_Mutation_p.A86V|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 86 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AGCCGGAGGGCGGCCGCCTGC 0.587 NA 13 21 0 0 0 0 EPHX1 2052 broad.mit.edu 37 1 226033041 226033041 + Missense_Mutation SNP G G A rs2234701 TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:226033041G>A uc001hpk.2 + 9 1441 c.1361G>A c.(1360-1362)CGG>CAG p.R454Q EPHX1_uc001hpl.2_Missense_Mutation_p.R454Q NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 454 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) GTGCTGGAGCGGCAATGACCC 0.607 NA 11 23 0 0 0 0 ACTN2 88 broad.mit.edu 37 1 236911018 236911018 + Silent SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:236911018T>C uc001hyf.2 + 13 1662 c.1458T>C c.(1456-1458)ATT>ATC p.I486I ACTN2_uc001hyg.2_Silent_p.I278I|ACTN2_uc009xgi.1_Silent_p.I486I|ACTN2_uc010pxu.1_Silent_p.I175I|ACTN2_uc001hyh.2_Silent_p.I174I NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 486 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCCAGAAAATTTGTGACCAGT 0.408 NA 3 29 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237675051 237675051 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:237675051G>A uc001hyl.1 + 24 2902 c.2782G>A c.(2782-2784)GAG>AAG p.E928K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 928 Cytoplasmic (By similarity).|1.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCTGAACAGGAGCGCAATTA 0.403 NA 3 12 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237813233 237813233 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:237813233C>T uc001hyl.1 + 50 7689 c.7569C>T c.(7567-7569)GCC>GCT p.A2523A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2523 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTGCACAGCCGTCTTGCCAT 0.463 NA 41 118 0 0 0 0 ZP4 57829 broad.mit.edu 37 1 238050710 238050710 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:238050710G>C uc001hym.2 - 5 705 c.705C>G c.(703-705)TTC>TTG p.F235L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 235 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATGGAAACTGGAACAGAACAA 0.522 NA 12 170 0 0 0 0 CHRM3 1131 broad.mit.edu 37 1 240071149 240071149 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:240071149G>A uc001hyp.2 + 5 1177 c.398G>A c.(397-399)CGA>CAA p.R133Q NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 133 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ATCATGAATCGATGGGCCTTA 0.473 NA 25 63 0 0 0 0 PLD5 200150 broad.mit.edu 37 1 242451674 242451674 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:242451674G>A uc001hzn.1 - 3 612 c.485C>T c.(484-486)TCA>TTA p.S162L PLD5_uc001hzl.3_Missense_Mutation_p.S100L|PLD5_uc001hzm.3_Intron|PLD5_uc001hzo.1_Missense_Mutation_p.S70L Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 162 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CTGACATGCTGATGGATGAGT 0.428 NA 12 64 0 0 0 0 CNST 163882 broad.mit.edu 37 1 246810610 246810610 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:246810610C>T uc001ibp.2 + 9 1485 c.1107C>T c.(1105-1107)GCC>GCT p.A369A CNST_uc001ibo.3_Silent_p.A369A NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 369 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GCGCTGAAGCCACGTTAGCGC 0.587 NA OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 97 0 0 0 0 OR2B11 127623 broad.mit.edu 37 1 247614634 247614634 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:247614634G>A uc010pyx.1 - 1 651 c.651C>T c.(649-651)CTC>CTT p.L217L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGAGAAGGATGAGAGCCAGGG 0.582 NA 7 50 0 0 0 0 OR2W3 343171 broad.mit.edu 37 1 248059699 248059699 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:248059699G>A uc001idp.1 + 3 1080 c.811G>A c.(811-813)GGC>AGC p.G271S OR2W3_uc010pzb.1_Missense_Mutation_p.G271S NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCAGGACCAGGGCATGTTCCT 0.532 NA 24 80 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26243891 26243891 + Missense_Mutation SNP T T A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:26243891T>A uc001isn.2 + 4 617 c.257T>A c.(256-258)TTT>TAT p.F86Y MYO3A_uc009xko.1_Missense_Mutation_p.F86Y|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.F86Y|MYO3A_uc001ism.2_Missense_Mutation_p.F86Y NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 86 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 GGGATATACTTTAAGAAGGAT 0.373 NA 6 82 0 0 0 0 ZEB1 6935 broad.mit.edu 37 10 31810429 31810429 + Silent SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:31810429A>G uc001ivs.3 + 7 2229 c.2166A>G c.(2164-2166)ACA>ACG p.T722T ZEB1_uc001ivr.3_Silent_p.T504T|ZEB1_uc010qee.1_Silent_p.T504T|ZEB1_uc010qef.1_Silent_p.T504T|ZEB1_uc009xlj.1_Silent_p.T648T|ZEB1_uc010qeg.1_Silent_p.T581T|ZEB1_uc009xlk.1_Silent_p.T504T|ZEB1_uc001ivt.3_Silent_p.T504T|ZEB1_uc001ivu.3_Silent_p.T723T|ZEB1_uc001ivv.3_Silent_p.T702T|ZEB1_uc010qeh.1_Silent_p.T655T|ZEB1_uc009xlo.1_Silent_p.T705T|ZEB1_uc009xlp.2_Silent_p.T706T NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 722 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) ACTTGTACACAGCTGAGGGTG 0.438 NA 7 41 0 0 0 0 DKK1 22943 broad.mit.edu 37 10 54074846 54074846 + Splice_Site SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:54074846G>T uc001jjr.2 + 2 560 c.406_splice c.e2+1 p.G136_splice uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TGCAAAAATGGTGAGTCCTGA 0.587 NA 6 37 3.6e-05 6.58e-05 1 0 GRID1 2894 broad.mit.edu 37 10 87407143 87407143 + Missense_Mutation SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:87407143T>G uc001kdl.1 - 13 2110 c.2009A>C c.(2008-2010)GAC>GCC p.D670A GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.D241A|uc001kdm.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 670 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TTTGGACAGGTCCTGGAAAGT 0.522 NA Multiple Myeloma(13;0.14) 14 153 0 0 0 0 IFIT5 24138 broad.mit.edu 37 10 91177111 91177111 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:91177111C>T uc010qnh.1 + 2 386 c.155C>T c.(154-156)GCT>GTT p.A52V LIPA_uc001kgb.3_5'Flank|LIPA_uc001kgc.3_5'Flank|IFIT5_uc010qng.1_Missense_Mutation_p.A52V NM_012420 NP_036552 Q13325 IFIT5_HUMAN interferon-induced protein with 52 TPR 1. binding 0 TCTAGACTTGCTCTTTATAAC 0.373 NA 8 60 0 0 0 0 NLRP6 171389 broad.mit.edu 37 11 281335 281335 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:281335C>A uc010qvs.1 + 4 1601 c.1601C>A c.(1600-1602)GCC>GAC p.A534D NLRP6_uc010qvt.1_Missense_Mutation_p.A534D NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 534 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGTGGGGACGCCCAGCCGCAC 0.687 NA 12 16 1.58e-08 3.06e-08 1 0 SLC25A22 79751 broad.mit.edu 37 11 792580 792580 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:792580T>C uc001lri.2 - 7 902 c.560A>G c.(559-561)TAC>TGC p.Y187C CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Missense_Mutation_p.Y187C|SLC25A22_uc001lrj.2_Missense_Mutation_p.Y187C NM_024698 NP_078974 Q9H936 GHC1_HUMAN mitochondrial glutamate carrier 1 187 Solcar 2. integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) GAGTCCCTTGTAGAGACCGGC 0.731 NA 7 19 0 0 0 0 C11orf16 56673 broad.mit.edu 37 11 8947244 8947244 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:8947244C>G uc001mhb.3 - 5 1094 c.970G>C c.(970-972)GAG>CAG p.E324Q C11orf16_uc001mhc.3_Missense_Mutation_p.E324Q NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 324 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GCTACTTTCTCCTCTTTAGGA 0.552 NA 13 55 0 0 0 0 C11orf16 56673 broad.mit.edu 37 11 8948556 8948556 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:8948556C>G uc001mhb.3 - 4 614 c.490G>C c.(490-492)GAG>CAG p.E164Q C11orf16_uc001mhc.3_Missense_Mutation_p.E164Q NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 164 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) TGGCCTGGCTCCCAGAGTGCC 0.547 NA 9 40 0 0 0 0 SBF2 81846 broad.mit.edu 37 11 10064472 10064472 + Silent SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:10064472A>G uc001mib.2 - 3 336 c.198T>C c.(196-198)TTT>TTC p.F66F SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 66 UDENN. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GGACAACCACAAAGAACGTTG 0.403 NA 23 29 0 0 0 0 MYOD1 4654 broad.mit.edu 37 11 17741386 17741386 + Silent SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:17741386T>G uc001mni.2 + 1 277 c.57T>G c.(55-57)TCT>TCG p.S19S NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 19 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 CCGACGGCTCTCTCTGCTCCT 0.652 NA 23 40 0 0 0 0 DPF2 5977 broad.mit.edu 37 11 65108938 65108938 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:65108938C>T uc001odm.2 + 4 382 c.370C>T c.(370-372)CGC>TGC p.R124C DPF2_uc001odn.2_Missense_Mutation_p.R124C|DPF2_uc010roe.1_Missense_Mutation_p.R124C NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 124 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 GGCTCTGTTGCGCACTGACCC 0.567 NA 10 40 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70176348 70176348 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:70176348C>T uc001opo.2 + 8 1198 c.1000C>T c.(1000-1002)CGT>TGT p.R334C PPFIA1_uc001opn.1_Missense_Mutation_p.R334C|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 334 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CGCTGCACAGCGTGAAGCCAC 0.398 NA 23 42 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118392789 118392789 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:118392789G>A uc001pta.2 + 36 11835 c.11812G>A c.(11812-11814)GAG>AAG p.E3938K MLL_uc001ptb.2_Missense_Mutation_p.E3941K|MLL_uc001ptf.2_5'Flank NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3938 SET. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTACCGAGGAGAGGAACTCAC 0.478 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 12 70 0 0 0 0 SRPR 6734 broad.mit.edu 37 11 126136385 126136385 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:126136385C>T uc001qdh.2 - 6 877 c.826G>A c.(826-828)GAG>AAG p.E276K SRPR_uc010sbm.1_Missense_Mutation_p.E248K|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 276 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) TTGATGTCCTCAGACAAGGCA 0.488 NA 15 71 0 0 0 0 CD163 9332 broad.mit.edu 37 12 7636160 7636160 + Missense_Mutation SNP T T G rs141756075 by1000genomes TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:7636160T>G uc001qsz.3 - 12 3019 c.2891A>C c.(2890-2892)CAG>CCG p.Q964P CD163_uc001qta.3_Missense_Mutation_p.Q964P|CD163_uc009zfw.2_Missense_Mutation_p.Q997P NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 964 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ACACACCACCTGAGCATCGTC 0.522 NA 10 69 0 0 0 0 DENND5B 160518 broad.mit.edu 37 12 31552693 31552693 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:31552693C>T uc001rki.1 - 16 3149 c.2963G>A c.(2962-2964)GGG>GAG p.G988E DENND5B_uc001rkh.1_Missense_Mutation_p.G1023E|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 988 PLAT. integral to membrane ovary(1)|central_nervous_system(1) 2 GGTCAGCTTCCCCAAGTTCTG 0.443 NA 10 20 0 0 0 0 TROAP 10024 broad.mit.edu 37 12 49722756 49722756 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:49722756A>G uc001rtx.3 + 9 1105 c.938A>G c.(937-939)CAG>CGG p.Q313R TROAP_uc009zlh.2_Missense_Mutation_p.Q313R|TROAP_uc001rty.2_Missense_Mutation_p.Q21R NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 313 cell adhesion cytoplasm ovary(1) 1 CCTGTGGCCCAGCCCTTGCCT 0.572 NA 29 57 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81661805 81661805 + Silent SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:81661805T>C uc001szo.1 - 29 3533 c.3372A>G c.(3370-3372)GAA>GAG p.E1124E PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 1023 ovary(3)|lung(2)|pancreas(1) 6 TATTTGCATATTCTCGAAGTC 0.393 NA 4 8 0 0 0 0 TXNRD1 7296 broad.mit.edu 37 12 104720144 104720144 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:104720144G>C uc010swk.1 + 12 1350 c.1328G>C c.(1327-1329)AGA>ACA p.R443T TXNRD1_uc010swl.1_Missense_Mutation_p.R293T|TXNRD1_uc010swm.1_Missense_Mutation_p.R345T|TXNRD1_uc010swn.1_Missense_Mutation_p.R293T|TXNRD1_uc010swo.1_Missense_Mutation_p.R293T|TXNRD1_uc010swp.1_Missense_Mutation_p.R255T|TXNRD1_uc010swq.1_Missense_Mutation_p.R343T|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.R359T NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 443 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 GCAATAGGAAGAGATGCTTGC 0.289 NA 2 1 0 0 0 0 SPPL3 121665 broad.mit.edu 37 12 121221519 121221519 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:121221519G>C uc001tzd.2 - 5 828 c.347C>G c.(346-348)CCG>CGG p.P116R SPPL3_uc009zwz.2_Missense_Mutation_p.P116R NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 117 Helical; (Potential). integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTGGCACATCGGGAGGAGAAG 0.323 NA 15 13 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563188 129563188 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr12:129563188C>A uc009zyl.1 - 8 2334 c.2006G>T c.(2005-2007)GGG>GTG p.G669V TMEM132D_uc001uia.2_Missense_Mutation_p.G207V NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 669 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) CAGCTGCACCCCGAGGTCTGT 0.582 NA 34 56 1.62e-16 3.27e-16 1 0 NBEA 26960 broad.mit.edu 37 13 36229091 36229091 + Missense_Mutation SNP A A T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr13:36229091A>T uc001uvb.2 + 53 8278 c.8072A>T c.(8071-8073)TAT>TTT p.Y2691F NBEA_uc010abi.2_Missense_Mutation_p.Y1347F|NBEA_uc010tef.1_Missense_Mutation_p.Y484F|NBEA_uc001uvd.2_Missense_Mutation_p.Y269F NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2691 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GATAATCGCTATATTCTTATC 0.368 NA 13 21 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88330022 88330023 + Missense_Mutation DNP GC GC AA TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr13:88330022_88330023GC>AA uc001vln.2 + 2 2598_2599 c.2379_2380GC>AA c.(2377-2382)CAGCAG>CAAAAG p.Q794K SLITRK5_uc010tic.1_Missense_Mutation_p.Q553K NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 794 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACCACCTgcagcagcagcagca 0.376 NA 12 18 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99043103 99043103 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr13:99043103G>C uc001vnj.2 + 11 1393 c.1057G>C c.(1057-1059)GAA>CAA p.E353Q FARP1_uc001vnh.2_Missense_Mutation_p.E353Q NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 353 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTATGTTAAAGAAGGAGGACA 0.453 NA 20 71 0 0 0 0 ZIC5 85416 broad.mit.edu 37 13 100622499 100622499 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr13:100622499C>G uc001vom.1 - 1 1680 c.1431G>C c.(1429-1431)AAG>AAC p.K477N NM_033132 NP_149123 Q96T25 ZIC5_HUMAN zinc finger protein of the cerebellum 5 477 C2H2-type 1; atypical. cell differentiation nucleus DNA binding|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGTTGATGAGCTTGTATTTGG 0.642 NA 5 113 0 0 0 0 MCF2L 23263 broad.mit.edu 37 13 113678963 113678963 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr13:113678963C>T uc001vsu.2 + 3 362 c.340C>T c.(340-342)CGG>TGG p.R114W MCF2L_uc001vsq.2_Missense_Mutation_p.R114W|MCF2L_uc010tjr.1_Missense_Mutation_p.R57W|MCF2L_uc001vsr.2_Missense_Mutation_p.R61W|MCF2L_uc001vss.3_Missense_Mutation_p.R55W|MCF2L_uc010tjs.1_Missense_Mutation_p.R55W NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 87 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCCAGGTGGGCGGGGGCAGGA 0.612 NA 7 77 0 0 0 0 TPPP2 122664 broad.mit.edu 37 14 21499312 21499312 + Silent SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:21499312C>A uc001vzh.2 + 3 503 c.315C>A c.(313-315)ACC>ACA p.T105T NDRG2_uc010tll.1_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family 105 cytoplasm 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ACCCAGCCACCACTGGCGCTA 0.537 NA 11 47 3.07e-06 5.77e-06 1 0 SLC7A7 9056 broad.mit.edu 37 14 23243254 23243254 + Silent SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:23243254A>G uc001wgr.3 - 9 1455 c.1317T>C c.(1315-1317)GAT>GAC p.D439D SLC7A7_uc001wgs.3_Silent_p.D439D|SLC7A7_uc001wgt.3_Silent_p.D439D|SLC7A7_uc001wgu.3_Silent_p.D439D|SLC7A7_uc001wgv.3_Silent_p.D439D NM_003982 NP_003973 Q9UM01 YLAT1_HUMAN solute carrier family 7 member 7 439 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity ovary(1)|breast(1) 2 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) AGTTGATAGTATCACTGTAAA 0.507 NA 34 60 0 0 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885013 24885013 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:24885013C>T uc001wpf.3 + 9 4376 c.4058C>T c.(4057-4059)GCC>GTC p.A1353V NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1353 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CCAACCTATGCCCACCTGGCA 0.607 NA 16 131 0 0 0 0 GZMB 3002 broad.mit.edu 37 14 25100420 25100420 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:25100420C>G uc001wps.2 - 5 667 c.601G>C c.(601-603)GGG>CGG p.G201R GZMB_uc010ama.2_Missense_Mutation_p.G189R|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 201 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) CCAGAGTCCCCCTGTGAATAG 0.557 NA 5 68 0 0 0 0 KIAA0317 9870 broad.mit.edu 37 14 75140809 75140809 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:75140809G>T uc001xqb.2 - 9 1591 c.1086C>A c.(1084-1086)TTC>TTA p.F362L KIAA0317_uc010tut.1_Missense_Mutation_p.F201L|KIAA0317_uc001xqc.2_Missense_Mutation_p.F362L NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 362 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) CCTTCACTGAGAATTGCTGGA 0.403 NA 25 25 9.39e-14 1.89e-13 1 0 ASPG 374569 broad.mit.edu 37 14 104570801 104570801 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:104570801C>T uc001yoq.1 + 8 974 c.914C>T c.(913-915)ACC>ATC p.T305I ASPG_uc001yoo.1_Missense_Mutation_p.T333I|ASPG_uc001yop.1_Missense_Mutation_p.T305I|ASPG_uc001yor.1_Missense_Mutation_p.T305I NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 305 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 GGGGCTGTGACCACAGACTAT 0.672 NA 8 43 0 0 0 0 MTA1 9112 broad.mit.edu 37 14 105920571 105920571 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr14:105920571G>A uc001yqx.2 + 7 661 c.474G>A c.(472-474)AAG>AAA p.K158K MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Silent_p.K72K|MTA1_uc001yra.1_Silent_p.K72K NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 158 BAH. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CACAGCAGAAGACCCTGCTGG 0.537 NA 10 49 0 0 0 0 CYFIP1 23191 broad.mit.edu 37 15 22935896 22935896 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:22935896G>A uc001yus.2 + 9 936 c.832G>A c.(832-834)GTC>ATC p.V278I CYFIP1_uc001yut.2_Missense_Mutation_p.V278I|CYFIP1_uc010aya.1_Missense_Mutation_p.V306I NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 278 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GGATGGGAGTGTCAGTAACAT 0.373 NA 6 30 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28386588 28386588 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:28386588G>T uc001zbj.2 - 78 12111 c.12005C>A c.(12004-12006)GCT>GAT p.A4002D NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4002 RCC1 13. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTCCCATCAGCCGTCACAGC 0.517 NA 30 21 8.89e-20 1.8e-19 1 0 NDNL2 56160 broad.mit.edu 37 15 29561491 29561491 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:29561491T>C uc001zco.2 - 1 527 c.419A>G c.(418-420)TAT>TGT p.Y140C FAM189A1_uc010azk.1_Intron NM_138704 NP_619649 Q96MG7 MAGG1_HUMAN necdin-like 2 140 MAGE. regulation of growth cytoplasm|nucleus 0 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CACCAGCTTATACCCGAAGAC 0.577 NA 3 89 0 0 0 0 CEP152 22995 broad.mit.edu 37 15 49054851 49054851 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:49054851G>C uc001zwy.2 - 18 2333 c.2299C>G c.(2299-2301)CAA>GAA p.Q767E CEP152_uc001zwz.2_Missense_Mutation_p.Q767E|CEP152_uc001zxa.1_Missense_Mutation_p.Q674E NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 767 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCAAGCTGTTGAATGAGTTTT 0.348 NA 39 31 0 0 0 0 RPS27L 51065 broad.mit.edu 37 15 63447855 63447855 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:63447855C>T uc002aly.2 - 3 328 c.191G>A c.(190-192)TGC>TAC p.C64Y RPS27L_uc002alx.2_RNA NM_015920 NP_057004 Q71UM5 RS27L_HUMAN ribosomal protein S27-like 64 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation nucleus|ribosome caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity 0 TGTAGGCTGGCACAACACTGT 0.413 NA 5 66 0 0 0 0 WHAMM 123720 broad.mit.edu 37 15 83478538 83478538 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:83478538C>T uc002bje.2 + 1 566 c.60C>T c.(58-60)TTC>TTT p.F20F NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 20 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 AGGGCCTCTTCGCCGAGCCCG 0.731 NA 12 20 0 0 0 0 SLC28A1 9154 broad.mit.edu 37 15 85487997 85487997 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:85487997C>T uc002blg.2 + 18 1975 c.1773C>T c.(1771-1773)TAC>TAT p.Y591Y SLC28A1_uc010bnb.2_Silent_p.Y591Y|SLC28A1_uc010upe.1_Silent_p.Y425Y|SLC28A1_uc010upf.1_Silent_p.Y591Y|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 591 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGATCCTCTACATGCCCAGGG 0.597 NA 49 42 0 0 0 0 HBA2 3040 broad.mit.edu 37 16 223537 223537 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:223537C>T uc002cfv.3 + 3 433 c.367C>T c.(367-369)CAC>TAC p.H123Y HBA2_uc002cfw.2_Intron NM_000517 NP_000508 P69905 HBA_HUMAN alpha 2 globin 123 H -> Q (in Westmead). hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) CCCTGCGGTGCACGCCTCCCT 0.662 NA OREG0003686 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 23 0 0 0 0 CORO7 79585 broad.mit.edu 37 16 4408429 4408429 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:4408429C>T uc002cwh.3 - 24 2516 c.2396G>A c.(2395-2397)CGG>CAG p.R799Q CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R799Q|CORO7_uc002cwg.3_Missense_Mutation_p.R579Q|CORO7_uc010uxh.1_Missense_Mutation_p.R781Q|CORO7_uc010uxi.1_Missense_Mutation_p.R714Q|CORO7_uc002cwi.1_Missense_Mutation_p.R579Q NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 799 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CCGCAGGCACCGCATCAGCTC 0.697 NA 5 33 0 0 0 0 MYH11 4629 broad.mit.edu 37 16 15820749 15820749 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:15820749C>T uc002ddy.2 - 28 3921 c.3814G>A c.(3814-3816)GAG>AAG p.E1272K MYH11_uc002ddv.2_Missense_Mutation_p.E1279K|MYH11_uc002ddw.2_Missense_Mutation_p.E1272K|MYH11_uc002ddx.2_Missense_Mutation_p.E1279K|MYH11_uc010bvg.2_Missense_Mutation_p.E1104K|MYH11_uc010bvh.2_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1272 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CGGGCCCGCTCCCCATCGCTG 0.647 NA T CBFB AML 6 150 0 0 0 0 C16orf62 57020 broad.mit.edu 37 16 19586419 19586419 + Splice_Site SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:19586419G>A uc002dgn.1 + 5 421 c.409_splice c.e5-1 p.N137_splice C16orf62_uc002dgo.1_Splice_Site_p.N137_splice|C16orf62_uc010vas.1_Splice_Site|C16orf62_uc002dgm.1_Splice_Site_p.N137_splice NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 integral to membrane ovary(1) 1 TGTCTCTGCAGAATCTGTTTA 0.294 NA 5 33 0 0 0 0 EEF2K 29904 broad.mit.edu 37 16 22271782 22271782 + Splice_Site SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:22271782G>C uc002dki.2 + 11 1717 c.1232_splice c.e11-1 p.H411_splice EEF2K_uc002dkh.2_Splice_Site NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) TCCCTGCCCAGATTGGCCAGT 0.547 NA 5 115 0 0 0 0 SH2B1 25970 broad.mit.edu 37 16 28877954 28877954 + Missense_Mutation SNP C C T rs144107554 TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:28877954C>T uc002dri.2 + 4 978 c.539C>T c.(538-540)TCC>TTC p.S180F uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.S180F|SH2B1_uc002drk.2_Missense_Mutation_p.S180F|SH2B1_uc002drl.2_Missense_Mutation_p.S180F|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.S180F|SH2B1_uc002drm.2_Missense_Mutation_p.S180F NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 180 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 GACCCTCCCTCCTCCGCTGGG 0.652 NA 19 46 0 0 0 0 CES1 1066 broad.mit.edu 37 16 55862770 55862770 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:55862770C>A uc002eim.2 - 2 274 c.166G>T c.(166-168)GCC>TCC p.A56S CES1_uc002eil.2_Missense_Mutation_p.A57S|CES1_uc002ein.2_Missense_Mutation_p.A56S NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 56 A -> G (in Ref. 2; AAA16036/AAA35711). response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GGCGGCTTGGCAAAAGGGATT 0.557 NA 11 64 3.86e-05 7.03e-05 1 0 RSPRY1 89970 broad.mit.edu 37 16 57238809 57238809 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:57238809C>A uc002elb.2 + 2 517 c.239C>A c.(238-240)CCT>CAT p.P80H RSPRY1_uc002elc.2_Missense_Mutation_p.P80H|RSPRY1_uc002eld.2_Missense_Mutation_p.P80H|RSPRY1_uc002ele.1_Missense_Mutation_p.P80H NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 80 extracellular region zinc ion binding ovary(1) 1 CCACGGGACCCTGTTCGGCCA 0.547 NA 7 67 0.000157383 0.000281906 1 0 CDH11 1009 broad.mit.edu 37 16 64984742 64984742 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:64984742C>A uc002eoi.2 - 12 2256 c.1822G>T c.(1822-1824)GCC>TCC p.A608S CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.A608S|CDH11_uc010vin.1_Missense_Mutation_p.A482S NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 608 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AGAATGTAGGCCTCTGCGTTG 0.637 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 17 26 4.75e-09 9.27e-09 1 0 RLTPR 146206 broad.mit.edu 37 16 67683451 67683451 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:67683451C>T uc002etn.2 + 20 1968 c.1848C>T c.(1846-1848)ATC>ATT p.I616I RLTPR_uc010cel.1_Silent_p.I609I|RLTPR_uc010vjr.1_Silent_p.I580I NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 616 Tropomodulin-like.|LRR 14. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CGCTGGATATCAGCGGCAACG 0.672 NA 10 46 0 0 0 0 CENPT 80152 broad.mit.edu 37 16 67862656 67862656 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:67862656C>G uc002eun.3 - 14 1920 c.1371G>C c.(1369-1371)AAG>AAC p.K457N CENPT_uc002eum.3_Missense_Mutation_p.K402N|CENPT_uc010vkc.1_Missense_Mutation_p.K215N|CENPT_uc010vkd.1_Missense_Mutation_p.K210N NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 457 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) TCAGTCCAGCCTTGTGGGGAT 0.587 NA 12 171 0 0 0 0 EDC4 23644 broad.mit.edu 37 16 67917557 67917557 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:67917557G>A uc002eur.2 + 28 4102 c.3936G>A c.(3934-3936)CCG>CCA p.P1312P EDC4_uc010cer.2_Silent_p.P931P|EDC4_uc002eus.2_Silent_p.P1042P|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1312 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CACCCTGCCCGCTCTCCCAGC 0.587 NA OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 186 0 0 0 0 BCAR1 9564 broad.mit.edu 37 16 75276926 75276926 + Silent SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:75276926G>T uc002fdv.2 - 2 198 c.75C>A c.(73-75)CGC>CGA p.R25R BCAR1_uc010cgu.2_5'UTR|BCAR1_uc010vna.1_Silent_p.R23R|BCAR1_uc010vnb.1_Silent_p.R71R|BCAR1_uc002fdw.2_Silent_p.R25R|BCAR1_uc010vnc.1_Silent_p.R25R|BCAR1_uc010vnd.1_Silent_p.R43R|BCAR1_uc002fdx.2_Silent_p.R43R NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 25 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) TGTCACCCTTGCGGAAGGAGA 0.627 NA 7 44 2.01e-06 3.79e-06 1 0 PKD1L2 114780 broad.mit.edu 37 16 81253869 81253869 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr16:81253869C>T uc002fgh.1 - 1 107 c.107G>A c.(106-108)AGA>AAA p.R36K PKD1L2_uc002fgj.2_Missense_Mutation_p.R36K NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 36 Extracellular (Potential).|C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCAAGCATCTCTGAAGGCCAC 0.562 NA 15 70 0 0 0 0 RPH3AL 9501 broad.mit.edu 37 17 171088 171088 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:171088C>T uc002frd.1 - 2 240 c.196G>A c.(196-198)GAC>AAC p.D66N RPH3AL_uc010vpy.1_Missense_Mutation_p.D66N|RPH3AL_uc002fre.1_Missense_Mutation_p.D66N|RPH3AL_uc002frf.1_Missense_Mutation_p.D66N|RPH3AL_uc010cjl.1_Missense_Mutation_p.D66N NM_006987 NP_008918 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 66 RabBD. exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) TCCAGGACGTCGAGCCGCTCT 0.682 NA 29 75 0 0 0 0 MYO1C 4641 broad.mit.edu 37 17 1375450 1375450 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:1375450G>A uc002fsp.2 - 18 2090 c.1870C>T c.(1870-1872)CGC>TGC p.R624C MYO1C_uc002fsn.2_Missense_Mutation_p.R605C|MYO1C_uc002fso.2_Missense_Mutation_p.R589C|MYO1C_uc010vqj.1_Missense_Mutation_p.R589C|MYO1C_uc010vqk.1_Missense_Mutation_p.R600C NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 624 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TTGATGCAGCGGACGTAGGCG 0.657 NA 5 112 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578419 7578420 + Nonsense_Mutation DNP CC CC AA TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:7578419_7578420CC>AA uc002gim.2 - 5 704_705 c.510_511GG>TT c.(508-513)ACGGAG>ACTTAG p.E171* TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 171 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (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.E171*(10)|p.E171K(8)|p.0?(7)|p.T170T(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCACAACCTCCGTCATGTGCT 0.658 111 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) 16 26 0 0 0 0 MAPK7 5598 broad.mit.edu 37 17 19286398 19286398 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:19286398G>A uc002gvn.2 + 7 2691 c.2305G>A c.(2305-2307)GAT>AAT p.D769N MAPK7_uc002gvo.2_Missense_Mutation_p.D630N|MAPK7_uc002gvq.2_Missense_Mutation_p.D769N|MAPK7_uc002gvp.2_Missense_Mutation_p.D769N|uc010vyt.1_5'Flank NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 769 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity). cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CAGCCAGGCAGATTCAGCCTC 0.597 NA 28 78 0 0 0 0 SLC47A2 146802 broad.mit.edu 37 17 19610064 19610064 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:19610064G>A uc002gwe.3 - 9 1021 c.846C>T c.(844-846)AGC>AGT p.S282S SLC47A2_uc002gwg.3_Silent_p.S246S|SLC47A2_uc002gwf.3_Silent_p.S246S|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 282 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GCAGGCACTGGCTGGACCAAC 0.612 NA 19 53 0 0 0 0 CDK12 51755 broad.mit.edu 37 17 37673784 37673784 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:37673784A>G uc010cvv.2 + 10 3524 c.2938A>G c.(2938-2940)AGG>GGG p.R980G CDK12_uc010wef.1_Missense_Mutation_p.R979G|CDK12_uc002hrw.3_Missense_Mutation_p.R980G NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 980 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 GCAATATCGAAGGCGTCTACG 0.473 NA TCGA Ovarian(9;0.13) 26 88 0 0 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412084 39412084 + Nonsense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:39412084C>A uc010wfq.1 + 3 404 c.402C>A c.(400-402)TGC>TGA p.C134* NM_030975 NP_112237 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 149 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AGACCACCTGCTGCAGGACCA 0.602 NA 78 170 3.55e-40 7.36e-40 1 0 KRT36 8689 broad.mit.edu 37 17 39644611 39644611 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:39644611C>T uc002hwt.2 - 3 583 c.583G>A c.(583-585)GAC>AAC p.D195N NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 195 Rod.|Coil 1B. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) CCGTTGATGTCGGCCTCCACT 0.592 NA 40 70 0 0 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847632 40847632 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:40847632G>T uc002iay.2 + 19 3302 c.3086G>T c.(3085-3087)AGC>ATC p.S1029I CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 1029 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CACATGCTGAGCCGGCCAGTG 0.617 NA 9 84 0.000274275 0.00048489 1 0 GPATCH8 23131 broad.mit.edu 37 17 42478140 42478140 + Missense_Mutation SNP T T G rs143765658 byFrequency TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:42478140T>G uc002igw.1 - 8 1369 c.1305A>C c.(1303-1305)AAA>AAC p.K435N GPATCH8_uc002igv.1_Missense_Mutation_p.K357N|GPATCH8_uc010wiz.1_Missense_Mutation_p.K357N NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 435 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AACTGCCTTTTTTACTCTCTG 0.443 NA OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 181 0 0 0 0 CBX1 10951 broad.mit.edu 37 17 46153470 46153470 + Nonsense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:46153470G>A uc002ind.3 - 3 692 c.211C>T c.(211-213)CAG>TAG p.Q71* CBX1_uc002ine.3_Nonsense_Mutation_p.Q71* NM_006807 NP_006798 P83916 CBX1_HUMAN heterochromatin protein 1-beta 71 Chromo 1. nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding 0 GCTGTTTTCTGTGACTGCAGA 0.403 NA 15 74 0 0 0 0 TBCD 6904 broad.mit.edu 37 17 80865685 80865685 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr17:80865685G>A uc002kfz.2 + 21 2101 c.1971G>A c.(1969-1971)CAG>CAA p.Q657Q TBCD_uc002kfx.1_Silent_p.Q640Q|TBCD_uc002kfy.1_Silent_p.Q657Q|TBCD_uc002kgb.1_5'UTR NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 657 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GCCTGAAGCAGATTCACCAGC 0.617 NA 4 13 0 0 0 0 ZFP161 7541 broad.mit.edu 37 18 5291434 5291434 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr18:5291434G>C uc002kmq.2 - 4 934 c.773C>G c.(772-774)ACA>AGA p.T258R ZFP161_uc002kmr.2_Missense_Mutation_p.T258R|ZFP161_uc010dkp.2_Missense_Mutation_p.T258R NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 258 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACTGGCGGCTGTTGTCCAGCC 0.493 NA 32 110 0 0 0 0 ZFP161 7541 broad.mit.edu 37 18 5291439 5291439 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr18:5291439C>G uc002kmq.2 - 4 929 c.768G>C c.(766-768)TGG>TGC p.W256C ZFP161_uc002kmr.2_Missense_Mutation_p.W256C|ZFP161_uc010dkp.2_Missense_Mutation_p.W256C NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 256 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGGCTGTTGTCCAGCCTGGTG 0.493 NA 33 115 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5394794 5394794 + Splice_Site SNP T T A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr18:5394794T>A uc002kmt.1 - 22 3240 c.3154_splice c.e22-1 p.A1052_splice EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Splice_Site_p.A830_splice|EPB41L3_uc010dkq.1_Splice_Site_p.A721_splice|EPB41L3_uc002kms.1_Splice_Site_p.A287_splice|EPB41L3_uc010wze.1_Splice_Site_p.A357_splice|EPB41L3_uc010wzf.1_Splice_Site_p.A349_splice|EPB41L3_uc010wzg.1_Splice_Site_p.A324_splice|EPB41L3_uc010dkr.2_Splice_Site_p.A444_splice NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AGCCAGCGCCTATCCCCGGGA 0.473 NA 62 64 0 0 0 0 CELF4 56853 broad.mit.edu 37 18 34855109 34855109 + Silent SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr18:34855109G>T uc002lae.2 - 4 942 c.546C>A c.(544-546)ACC>ACA p.T182T CELF4_uc010dnd.1_Silent_p.T181T|CELF4_uc002lag.2_Silent_p.T172T|CELF4_uc002laf.2_Silent_p.T177T|CELF4_uc002lai.2_Silent_p.T167T|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 182 Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CGCGCAGGATGGTGCACTCCT 0.662 NA 8 81 1.13e-05 2.09e-05 1 0 ZCCHC2 54877 broad.mit.edu 37 18 60242731 60242731 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr18:60242731C>T uc002lip.3 + 13 3417 c.3417C>T c.(3415-3417)AGC>AGT p.S1139S ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.S609S NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1139 CCHC-type. cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 GTGGTGTAAGCGGACACTATG 0.458 NA 9 25 0 0 0 0 XAB2 56949 broad.mit.edu 37 19 7685195 7685195 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:7685195C>A uc002mgx.2 - 16 2258 c.2232G>T c.(2230-2232)CAG>CAT p.Q744H NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 744 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 CCTTGAGCATCTGCGAGGCCA 0.627 NA Direct_reversal_of_damage|NER 6 43 3.6e-05 6.58e-05 1 0 TIMM44 10469 broad.mit.edu 37 19 7997752 7997752 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:7997752G>A uc002miz.2 - 8 837 c.835C>T c.(835-837)CTT>TTT p.L279F TIMM44_uc002mja.2_Missense_Mutation_p.L19F|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 279 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 TTGTCCGTAAGGGCCCGGGAT 0.632 NA 4 84 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8148207 8148207 + Nonsense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:8148207G>T uc002mjf.2 - 56 7158 c.7137C>A c.(7135-7137)TGC>TGA p.C2379* FBN3_uc002mje.2_Nonsense_Mutation_p.C218* NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2379 EGF-like 38; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGCTGTTGATGCACTCCCCAT 0.597 NA 16 64 1.57e-10 3.09e-10 1 0 OR7D2 162998 broad.mit.edu 37 19 9296822 9296822 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:9296822G>A uc002mkz.1 + 1 553 c.365G>A c.(364-366)CGG>CAG p.R122Q NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 122 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 GCCTATGACCGGTTTGTGGCT 0.502 NA 11 140 0 0 0 0 TMEM161A 54929 broad.mit.edu 37 19 19243544 19243544 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:19243544C>T uc002nlg.2 - 4 238 c.208G>A c.(208-210)GAG>AAG p.E70K TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.E70K|TMEM161A_uc002nli.2_Missense_Mutation_p.E70K|TMEM161A_uc002nlj.2_5'UTR NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 70 Extracellular (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) GGCTTCTCCTCACTAAGGCCA 0.627 NA 4 27 0 0 0 0 ZNF100 163227 broad.mit.edu 37 19 21909734 21909734 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:21909734G>T uc002nqi.2 - 5 1579 c.1380C>A c.(1378-1380)GAC>GAA p.D460E ZNF100_uc002nqh.2_Missense_Mutation_p.D396E NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 460 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCCACATTCGTCACATTTGT 0.408 NA 11 89 6.4e-05 0.000115937 1 0 ZNF208 7757 broad.mit.edu 37 19 22156525 22156525 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:22156525G>A uc002nqp.2 - 4 1460 c.1311C>T c.(1309-1311)TCC>TCT p.S437S ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAAGGTTTGAGGACCAGTTGA 0.378 NA 24 75 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22156838 22156838 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:22156838G>A uc002nqp.2 - 4 1147 c.998C>T c.(997-999)GCA>GTA p.A333V ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGCATGAATTGCCTTATGTGT 0.393 NA 42 59 0 0 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:24310294T>G uc002nru.2 + 4 1626 c.1492T>G c.(1492-1494)TCT>GCT p.S498A ZNF254_uc010xrk.1_Missense_Mutation_p.S413A NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 498 C2H2-type 11. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408 NA 3 72 0 0 0 0 PLEKHF1 79156 broad.mit.edu 37 19 30165036 30165036 + Missense_Mutation SNP A A C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:30165036A>C uc002nsh.3 + 2 392 c.290A>C c.(289-291)AAG>ACG p.K97T PLEKHF1_uc002nsi.3_Missense_Mutation_p.K182T NM_024310 NP_077286 Q96S99 PKHF1_HUMAN apoptosis-inducing protein D 97 PH. apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CTGCAGGCCAAGAACCGCTGG 0.602 NA 22 27 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31039643 31039643 + Silent SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:31039643C>A uc002nsu.1 + 4 3255 c.3117C>A c.(3115-3117)GTC>GTA p.V1039V ZNF536_uc010edd.1_Silent_p.V1039V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1039 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGGTCACAGTCAACTGCAAAG 0.542 NA 17 45 3.53e-06 6.61e-06 1 0 DMPK 1760 broad.mit.edu 37 19 46280797 46280797 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:46280797C>T uc002pdd.1 - 7 1508 c.964G>A c.(964-966)GAC>AAC p.D322N DMPK_uc010xxs.1_Missense_Mutation_p.D223N|DMPK_uc002pde.1_Missense_Mutation_p.D322N|DMPK_uc002pdf.1_Missense_Mutation_p.D312N|DMPK_uc002pdg.1_Missense_Mutation_p.D312N|DMPK_uc002pdh.1_Missense_Mutation_p.D312N|DMPK_uc002pdi.1_Missense_Mutation_p.D338N|DMPK_uc010xxt.1_Missense_Mutation_p.D312N NM_001081563 NP_001075032 Q09013 DMPK_HUMAN myotonic dystrophy protein kinase isoform 1 322 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3) 3 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TGAATGAAGTCTCGAGCCTCC 0.652 NA 11 59 0 0 0 0 LHB 3972 broad.mit.edu 37 19 49519449 49519449 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:49519449G>A uc002plt.2 - 3 311 c.302C>T c.(301-303)TCC>TTC p.S101F NM_000894 NP_000885 P01229 LSHB_HUMAN luteinizing hormone beta subunit precursor 101 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) CACAGGGAAGGAGACCACGGG 0.672 NA 5 104 0 0 0 0 CPT1C 126129 broad.mit.edu 37 19 50209265 50209265 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:50209265C>A uc002ppj.2 + 10 1269 c.1064C>A c.(1063-1065)CCG>CAG p.P355Q CPT1C_uc002ppl.3_Missense_Mutation_p.P321Q|CPT1C_uc002ppi.2_Missense_Mutation_p.P272Q|CPT1C_uc002ppk.2_Missense_Mutation_p.P344Q|CPT1C_uc010eng.2_Missense_Mutation_p.P355Q|CPT1C_uc010enh.2_Missense_Mutation_p.P355Q|CPT1C_uc010ybc.1_Missense_Mutation_p.P226Q|CPT1C_uc010eni.1_Missense_Mutation_p.P12Q NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 355 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTGCTTTCCCCGAGAGCCCTG 0.612 NA 4 69 0.00024832 0.000441879 1 0 ZNF701 55762 broad.mit.edu 37 19 53086647 53086647 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:53086647G>T uc002pzs.1 + 4 1462 c.1335G>T c.(1333-1335)AAG>AAT p.K445N ZNF701_uc010ydn.1_Missense_Mutation_p.K511N NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 445 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AATGTGGCAAGGTTTTTAATC 0.348 NA 17 33 5.04e-11 9.94e-11 1 0 LILRA5 353514 broad.mit.edu 37 19 54823182 54823182 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:54823182G>A uc002qfe.2 - 4 481 c.361C>T c.(361-363)CCT>TCT p.P121S LILRA5_uc002qff.2_Missense_Mutation_p.P109S|LILRA5_uc010yev.1_Missense_Mutation_p.P121S|LILRA5_uc010yew.1_Missense_Mutation_p.P109S|LILRA5_uc002qfh.1_Missense_Mutation_p.P109S|LILRA5_uc002qfg.1_Missense_Mutation_p.P121S NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 121 Extracellular (Potential).|Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGCCTGCAGGGCTGTAGTAG 0.612 NA 48 141 0 0 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286879 55286879 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:55286879G>T uc002qhb.1 + 4 671 c.633G>T c.(631-633)AAG>AAT p.K211N KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.K211N NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 211 Extracellular (Potential). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) AGTGGTCAAAGTCAAGTGACC 0.547 NA 14 188 0.000308642 0.000544466 1 0 FCAR 2204 broad.mit.edu 37 19 55399565 55399565 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:55399565C>T uc002qhr.1 + 4 750 c.553C>T c.(553-555)CTC>TTC p.L185F FCAR_uc002qhq.2_Missense_Mutation_p.L185F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.L158F|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.L185F|FCAR_uc002qhw.1_Missense_Mutation_p.L173F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.L173F|FCAR_uc002qhz.1_Missense_Mutation_p.L173F|FCAR_uc002qia.1_Missense_Mutation_p.L76F NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 185 Ig-like C2-type 2.|Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) TCCTGTGGACCTCAATGTCTC 0.537 NA 8 17 0 0 0 0 NLRP2 55655 broad.mit.edu 37 19 55501499 55501499 + Nonsense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:55501499G>T uc002qij.2 + 9 2562 c.2476G>T c.(2476-2478)GAG>TAG p.E826* NLRP2_uc010yfp.1_Nonsense_Mutation_p.E803*|NLRP2_uc010esn.2_Nonsense_Mutation_p.E802*|NLRP2_uc010eso.2_Nonsense_Mutation_p.E823*|NLRP2_uc010esp.2_Nonsense_Mutation_p.E804* NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 826 LRR 1. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCTTCTGGATGAGGGTGCTAA 0.517 NA 19 65 3.71e-20 7.56e-20 1 0 NLRP9 338321 broad.mit.edu 37 19 56220313 56220313 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:56220313C>G uc002qly.2 - 9 2969 c.2941G>C c.(2941-2943)GAC>CAC p.D981H NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 981 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TATTCCTCGTCAATCCAAGGT 0.488 NA 9 72 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57327825 57327825 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr19:57327825C>A uc002qnu.2 - 7 2336 c.1985G>T c.(1984-1986)TGT>TTT p.C662F ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C633F|PEG3_uc002qnv.2_Missense_Mutation_p.C662F|PEG3_uc002qnw.2_Missense_Mutation_p.C538F|PEG3_uc002qnx.2_Missense_Mutation_p.C536F|PEG3_uc010etr.2_Missense_Mutation_p.C662F NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 662 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTTTCCTCACACACTTTACC 0.438 NA 27 91 1.26e-06 2.4e-06 1 0 TPO 7173 broad.mit.edu 37 2 1497685 1497685 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:1497685A>G uc002qww.2 + 11 1971 c.1880A>G c.(1879-1881)AAG>AGG p.K627R TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.K570R|TPO_uc002qwr.2_Missense_Mutation_p.K627R|TPO_uc002qwx.2_Missense_Mutation_p.K570R|TPO_uc010yio.1_Missense_Mutation_p.K454R|TPO_uc010yip.1_Missense_Mutation_p.K627R|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 627 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GACTTGTACAAGCATCCTGAC 0.612 NA 12 33 0 0 0 0 SNRNP200 23020 broad.mit.edu 37 2 96953231 96953231 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:96953231C>T uc002svu.2 - 26 3516 c.3430G>A c.(3430-3432)GAG>AAG p.E1144K SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.E216K NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1144 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TTCTTCTTCTCAATCTTCTTC 0.517 NA 31 55 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179571656 179571657 + Missense_Mutation DNP GG GG TT TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:179571656_179571657GG>TT uc010zfg.1 - 98 25558_25559 c.25334_25335CC>AA c.(25333-25335)ACC>AAA p.T8445K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5106K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9372 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) CAGCTTTCTTGGTTGCTGGGGC 0.396 NA 5 13 0 0 0 0 CDK15 65061 broad.mit.edu 37 2 202744779 202744779 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:202744779C>A uc002uyt.2 + 12 1136 c.1087C>A c.(1087-1089)CTG>ATG p.L363M CDK15_uc002uys.2_Missense_Mutation_p.L312M|CDK15_uc010ftn.1_Missense_Mutation_p.L312M|CDK15_uc002uyu.1_RNA NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 363 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) AGCTGAAGACCTGGCCTCCCA 0.507 NA 8 29 1.11e-13 2.23e-13 1 0 RNF25 64320 broad.mit.edu 37 2 219528721 219528721 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:219528721G>A uc002vit.2 - 10 1427 c.1339C>T c.(1339-1341)CGG>TGG p.R447W RNF25_uc010fvw.2_Missense_Mutation_p.R335W NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 447 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACTCCCTCCGAGTACCAGGC 0.607 NA 9 95 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227924130 227924130 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:227924130C>G uc010zlt.1 - 28 3028 c.2374G>C c.(2374-2376)GGG>CGG p.G792R NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 792 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTTCAGCCCCTGGACATCCC 0.537 NA 4 151 0 0 0 0 DIS3L2 129563 broad.mit.edu 37 2 233198650 233198650 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:233198650G>A uc010fxz.2 + 17 2387 c.2111G>A c.(2110-2112)CGC>CAC p.R704H DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 704 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TCGCCCATCCGCCGCTTTGCC 0.667 NA 10 94 0 0 0 0 MTERFD2 130916 broad.mit.edu 37 2 242035433 242035433 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:242035433C>T uc002wan.1 - 3 1706 c.1213G>A c.(1213-1215)GAC>AAC p.D405N MTERFD2_uc010zoj.1_Missense_Mutation_p.D188N NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 376 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) tcgtcgtcgtcctcatcctca 0.199 NA 5 68 0 0 0 0 THBD 7056 broad.mit.edu 37 20 23029759 23029759 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr20:23029759T>C uc002wss.2 - 1 543 c.383A>G c.(382-384)AAT>AGT p.N128S THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.N69S NM_000361 NP_000352 P07204 TRBM_HUMAN thrombomodulin precursor 128 C-type lectin.|Extracellular (Potential). blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity 0 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) GGGAGCCCCATTGAGGTCGAG 0.677 NA 3 8 0 0 0 0 ACSS2 55902 broad.mit.edu 37 20 33470765 33470765 + Missense_Mutation SNP A A T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr20:33470765A>T uc002xbd.2 + 2 468 c.347A>T c.(346-348)AAG>ATG p.K116M ACSS2_uc002xbc.2_Missense_Mutation_p.K21M|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.K116M|ACSS2_uc002xbe.2_Translation_Start_Site|ACSS2_uc002xbf.2_Missense_Mutation_p.K116M NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 116 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CATGAGAAAAAGCTTGGAGAT 0.294 NA 4 22 0 0 0 0 CPNE1 8904 broad.mit.edu 37 20 34214297 34214297 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr20:34214297G>A uc002xdf.2 - 18 1843 c.1480C>T c.(1480-1482)CGG>TGG p.R494W CPNE1_uc002xdc.2_Missense_Mutation_p.R156W|CPNE1_uc010zvj.1_Missense_Mutation_p.R499W|CPNE1_uc002xde.2_Missense_Mutation_p.R470W|CPNE1_uc002xdg.2_Missense_Mutation_p.R438W|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R494W|CPNE1_uc002xdi.2_Missense_Mutation_p.R494W|CPNE1_uc002xdj.2_Missense_Mutation_p.R494W|CPNE1_uc002xdk.2_Missense_Mutation_p.R494W|CPNE1_uc002xdl.2_Missense_Mutation_p.R494W|CPNE1_uc002xdm.2_Missense_Mutation_p.R494W NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 494 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) AATGCCTCCCGAGGGGCCTGC 0.572 NA 27 67 0 0 0 0 MATN4 8785 broad.mit.edu 37 20 43929779 43929779 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr20:43929779C>T uc002xnn.2 - 5 1039 c.852G>A c.(850-852)GAG>GAA p.E284E MATN4_uc002xno.2_Silent_p.E243E|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Silent_p.E232E|MATN4_uc002xnr.1_Silent_p.E284E NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 325 EGF-like 3. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) AGTCATGGCCCTCTCTGCAGT 0.582 NA OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 51 0 0 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617523 37617523 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr21:37617523G>A uc002yvg.2 + 19 3324 c.3245G>A c.(3244-3246)GGC>GAC p.G1082D DOPEY2_uc011aeb.1_Missense_Mutation_p.G1031D|DOPEY2_uc002yvh.2_5'UTR NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1082 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CCGCTGCGAGGCGAGCTGAGC 0.632 NA 4 34 0 0 0 0 MICAL3 57553 broad.mit.edu 37 22 18384651 18384651 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr22:18384651G>A uc002zng.3 - 5 1037 c.684C>T c.(682-684)ACC>ACT p.T228T MICAL3_uc011agl.1_Silent_p.T228T|MICAL3_uc002znh.2_Silent_p.T228T|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Silent_p.T228T|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.T228T|MICAL3_uc011agm.1_Silent_p.T228T NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 228 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TACCTTCCAAGGTGTTCCTCC 0.562 NA 6 29 0 0 0 0 HIRA 7290 broad.mit.edu 37 22 19344526 19344526 + Silent SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr22:19344526G>T uc002zpf.1 - 19 2503 c.2283C>A c.(2281-2283)TCC>TCA p.S761S HIRA_uc011agx.1_Silent_p.S627S|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Silent_p.S717S|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 761 Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GACCACAGGTGGAGAACACTG 0.592 NA 15 166 1.15e-07 2.2e-07 1 0 GGT5 2687 broad.mit.edu 37 22 24640644 24640644 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr22:24640644C>G uc002zzo.3 - 1 467 c.50G>C c.(49-51)GGG>GCG p.G17A GGT5_uc002zzp.3_Missense_Mutation_p.G17A|GGT5_uc002zzr.3_Missense_Mutation_p.G17A|GGT5_uc002zzq.3_Missense_Mutation_p.G17A|GGT5_uc011ajm.1_Missense_Mutation_p.G17A|GGT5_uc011ajn.1_RNA NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 17 Helical; Signal-anchor for type II membrane protein; (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 CAGCGCCAGCCCCAGACCCAG 0.662 NA 3 34 0 0 0 0 DEPDC5 9681 broad.mit.edu 37 22 32198787 32198787 + Silent SNP A A T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr22:32198787A>T uc003als.2 + 15 1186 c.1044A>T c.(1042-1044)CTA>CTT p.L348L DEPDC5_uc011als.1_Silent_p.L348L|DEPDC5_uc011alu.1_Silent_p.L348L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.L348L|DEPDC5_uc003alr.1_Silent_p.L348L|DEPDC5_uc011alt.1_Silent_p.L320L NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 348 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TGGACCGCCTACTCATGATCC 0.502 NA 21 56 0 0 0 0 MEI1 150365 broad.mit.edu 37 22 42128529 42128529 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr22:42128529G>A uc003baz.1 + 11 1278 c.1253G>A c.(1252-1254)CGT>CAT p.R418H WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.R418H|MEI1_uc011apd.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 418 binding central_nervous_system(1)|skin(1) 2 GATGCTGGCCGTGCCCTCCAA 0.552 NA 23 39 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50727541 50727541 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr22:50727541C>T uc003bkv.3 - 4 1205 c.1099G>A c.(1099-1101)GAG>AAG p.E367K NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 367 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCAGGTGCTCCGAGCCACAT 0.692 NA 7 9 0 0 0 0 GNL3 26354 broad.mit.edu 37 3 52723170 52723170 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:52723170G>A uc003dfd.2 + 6 662 c.489G>A c.(487-489)GAG>GAA p.E163E GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.E151E|GNL3_uc003dff.2_Silent_p.E151E|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank NM_014366 NP_055181 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 163 regulation of cell proliferation nucleolus GTP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) AGGTAGAAGAGGCCATTGTCC 0.448 NA 13 83 0 0 0 0 ZNF654 55279 broad.mit.edu 37 3 88188518 88188518 + Nonsense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:88188518C>T uc003dqv.2 + 1 257 c.58C>T c.(58-60)CAG>TAG p.Q20* CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) CCAGGCTCATCAGAAAAAAGG 0.383 NA 10 21 0 0 0 0 CEP97 79598 broad.mit.edu 37 3 101476483 101476483 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:101476483G>A uc003dvk.1 + 9 1060 c.1033G>A c.(1033-1035)GTC>ATC p.V345I CEP97_uc010hpm.1_Missense_Mutation_p.V311I|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Missense_Mutation_p.V41I|CEP97_uc003dvm.1_Missense_Mutation_p.V183I NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 345 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 TCTAGAACCCGTCATTCAAGT 0.323 NA 10 45 0 0 0 0 CD200R1 131450 broad.mit.edu 37 3 112648206 112648206 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:112648206C>G uc003dzk.1 - 3 515 c.282G>C c.(280-282)GAG>GAC p.E94D CD200R1_uc003dzj.1_Missense_Mutation_p.E117D|CD200R1_uc011bhx.1_Missense_Mutation_p.E72D|CD200R1_uc003dzl.1_Missense_Mutation_p.E117D|CD200R1_uc003dzm.1_Missense_Mutation_p.E94D NM_170780 NP_740750 Q8TD46 MO2R1_HUMAN CD200 receptor 1 isoform d 94 Ig-like V-type.|Extracellular (Potential). interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(2)|pancreas(1) 3 TTTCCTTGGTCTCATTTGTTT 0.448 NA 8 109 0 0 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375488 113375488 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:113375488A>G uc003eam.2 - 7 5452 c.5041T>C c.(5041-5043)TCA>CCA p.S1681P KIAA2018_uc003eal.2_Missense_Mutation_p.S1625P NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1681 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CTCTGCTCTGAATTAGAAGAT 0.413 NA 100 38 0 0 0 0 EAF2 55840 broad.mit.edu 37 3 121563320 121563320 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:121563320A>G uc003een.2 + 2 226 c.127A>G c.(127-129)ATT>GTT p.I43V EAF2_uc003eeo.2_5'UTR NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 43 Necessary for interaction with ELL. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) ACCTGCTTCTATTGACACTTC 0.318 NA 12 85 0 0 0 0 PARP15 165631 broad.mit.edu 37 3 122345843 122345843 + Silent SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:122345843A>G uc003efm.2 + 9 1467 c.1401A>G c.(1399-1401)GCA>GCG p.A467A PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Silent_p.A214A|PARP15_uc003efp.1_Silent_p.A233A|PARP15_uc011bjt.1_Intron NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) ACCTCTCTGCATCACTGAACT 0.353 NA 8 47 0 0 0 0 STAG1 10274 broad.mit.edu 37 3 136221571 136221571 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:136221571G>T uc003era.1 - 8 1019 c.727C>A c.(727-729)CAT>AAT p.H243N STAG1_uc003erb.1_Missense_Mutation_p.H243N|STAG1_uc003erc.1_Missense_Mutation_p.H17N|STAG1_uc010hua.1_Missense_Mutation_p.H106N|STAG1_uc003erd.2_Missense_Mutation_p.H146N NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 243 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TTATCCTGATGAATACTGAGG 0.363 NA 9 60 5.49e-09 1.07e-08 1 0 ATR 545 broad.mit.edu 37 3 142278147 142278147 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:142278147C>T uc003eux.3 - 7 1800 c.1678G>A c.(1678-1680)GAG>AAG p.E560K NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 560 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 ATGGTTGCCTCCAGGTCCAGT 0.348 NA Other_conserved_DNA_damage_response_genes 7 47 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171451288 171451288 + Silent SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:171451288T>C uc003fhs.2 - 6 668 c.552A>G c.(550-552)GAA>GAG p.E184E PLD1_uc003fht.2_Silent_p.E184E NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 184 PX. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TCAAGTAATCTTCCAGTTGTT 0.284 NA 4 37 0 0 0 0 MFN1 55669 broad.mit.edu 37 3 179082171 179082171 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:179082171C>G uc003fjs.2 + 6 749 c.623C>G c.(622-624)TCT>TGT p.S208C MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.S236C|MFN1_uc010hxc.2_Missense_Mutation_p.S61C NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 208 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GTCGCAAACTCTGAATCAACA 0.373 NA 3 36 0 0 0 0 LAMP3 27074 broad.mit.edu 37 3 182871533 182871533 + Silent SNP G G A rs140803277 by1000genomes TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:182871533G>A uc003flh.3 - 2 920 c.696C>T c.(694-696)AAC>AAT p.N232N NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 232 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GTCTGCTTCCGTTTAGAACCT 0.502 NA 12 121 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184046477 184046477 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:184046477C>T uc003fnp.2 + 27 4210 c.4012C>T c.(4012-4014)CTC>TTC p.L1338F EIF4G1_uc003fnt.2_Missense_Mutation_p.L1049F|EIF4G1_uc003fnq.2_Missense_Mutation_p.L1251F|EIF4G1_uc003fnr.2_Missense_Mutation_p.L1174F|EIF4G1_uc010hxx.2_Missense_Mutation_p.L1345F|EIF4G1_uc003fns.2_Missense_Mutation_p.L1298F|EIF4G1_uc010hxy.2_Missense_Mutation_p.L1345F|EIF4G1_uc003fnv.3_Missense_Mutation_p.L1339F|EIF4G1_uc003fnu.3_Missense_Mutation_p.L1338F|EIF4G1_uc003fnw.2_Missense_Mutation_p.L1345F|EIF4G1_uc003fnx.2_Missense_Mutation_p.L1143F|EIF4G1_uc003fny.3_Missense_Mutation_p.L1142F|EIF4G1_uc003foa.2_Missense_Mutation_p.L10F NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1338 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCACGTGTGGCTCTACCTAGC 0.532 NA 8 189 0 0 0 0 FGF12 2257 broad.mit.edu 37 3 191888366 191888366 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:191888366C>T uc003fsx.2 - 4 1320 c.494G>A c.(493-495)CGC>CAC p.R165H FGF12_uc003fsy.2_Missense_Mutation_p.R103H NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 165 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTCTTGCTGGCGGTACAGTGT 0.393 NA 13 293 0 0 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195925231 195925231 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:195925231G>A uc003fwc.2 - 7 979 c.865C>T c.(865-867)CTC>TTC p.L289F ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 289 integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GGGGGGTTGAGAGCAGAGGGG 0.632 NA 9 50 0 0 0 0 SENP5 205564 broad.mit.edu 37 3 196612534 196612534 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:196612534C>T uc003fwz.3 + 2 731 c.482C>T c.(481-483)CCA>CTA p.P161L SENP5_uc011bty.1_Missense_Mutation_p.P161L NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 161 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AGGACAGACCCACAACCTTCT 0.468 NA 5 61 0 0 0 0 WFS1 7466 broad.mit.edu 37 4 6302536 6302536 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr4:6302536C>T uc003giy.2 + 8 1180 c.1014C>T c.(1012-1014)ATC>ATT p.I338I WFS1_uc003gix.2_Silent_p.I338I|WFS1_uc003giz.2_Silent_p.I156I NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 338 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) ACCTCACCATCGACTTCTTCG 0.562 NA 22 55 0 0 0 0 FAM13A 10144 broad.mit.edu 37 4 89827587 89827587 + Silent SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr4:89827587G>C uc003hse.1 - 6 994 c.786C>G c.(784-786)CCC>CCG p.P262P FAM13A_uc003hsf.1_Silent_p.P53P|FAM13A_uc003hsh.1_Silent_p.P76P NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 262 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 TTAAAAGGATGGGCAGGGAGT 0.368 NA 20 258 0 0 0 0 GRID2 2895 broad.mit.edu 37 4 94145828 94145828 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr4:94145828G>A uc011cdt.1 + 7 1285 c.1027G>A c.(1027-1029)GAG>AAG p.E343K GRID2_uc011cdu.1_Missense_Mutation_p.E248K|GRID2_uc010ikz.1_Missense_Mutation_p.E24K NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 343 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TAAGAAGCTGGAGGACCGAAA 0.443 NA 10 18 0 0 0 0 QRFPR 84109 broad.mit.edu 37 4 122250599 122250599 + Missense_Mutation SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr4:122250599T>G uc010inj.1 - 6 1545 c.1166A>C c.(1165-1167)GAA>GCA p.E389A QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 389 Cytoplasmic (Potential). plasma membrane neuropeptide Y receptor activity 0 ACTGAATGCTTCTCCTTTGGT 0.428 NA 13 143 0 0 0 0 SETD7 80854 broad.mit.edu 37 4 140439120 140439120 + Missense_Mutation SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr4:140439120G>C uc003ihw.2 - 7 1125 c.839C>G c.(838-840)CCC>CGC p.P280R NM_030648 NP_085151 Q8WTS6 SETD7_HUMAN SET domain-containing protein 7 280 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.156) GTGGTTATAGGGCTCAGGCAC 0.493 NA 7 84 0 0 0 0 TIGD4 201798 broad.mit.edu 37 4 153692050 153692050 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr4:153692050C>T uc003imy.2 - 2 889 c.107G>A c.(106-108)GGC>GAC p.G36D NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 36 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) TTTTTTCTTGCCACTTTCCAC 0.363 NA 5 62 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5465121 5465121 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:5465121C>T uc003jdm.3 + 13 5896 c.5674C>T c.(5674-5676)CCA>TCA p.P1892S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1892 ovary(1)|central_nervous_system(1) 2 TTGTTCTAGTCCAGCCGTCAG 0.468 NA 6 27 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24593411 24593411 + Missense_Mutation SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:24593411T>G uc003jgr.1 - 2 521 c.189A>C c.(187-189)TTA>TTC p.L63F CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 63 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATTCTTCAAGTAAGAAAAATT 0.363 NA HNSCC(23;0.051) 16 94 0 0 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59894929 59894929 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:59894929G>T uc003jsh.2 - 10 1474 c.1401C>A c.(1399-1401)AAC>AAA p.N467K DEPDC1B_uc011cqm.1_Intron|DEPDC1B_uc011cqn.1_Intron NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 467 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TTTTCTCTTTGTTGGAGAGTT 0.338 NA 8 13 0.000157383 0.000281906 1 0 APC 324 broad.mit.edu 37 5 112176386 112176386 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:112176386G>A uc010jby.2 + 16 5475 c.5095G>A c.(5095-5097)GAG>AAG p.E1699K APC_uc011cvt.1_Missense_Mutation_p.E1681K|APC_uc003kpz.3_Missense_Mutation_p.E1699K|APC_uc003kpy.3_Missense_Mutation_p.E1699K|APC_uc010jbz.2_Missense_Mutation_p.E1416K|APC_uc010jca.2_Missense_Mutation_p.E999K NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1699 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAGTACAGATGAGGCTCAAGG 0.423 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 6 22 0 0 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876609 139876609 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:139876609C>G uc003lfs.1 + 15 2874 c.2750C>G c.(2749-2751)CCA>CGA p.P917R ANKHD1_uc003lfq.1_Missense_Mutation_p.P936R|ANKHD1_uc003lfr.2_Missense_Mutation_p.P917R|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.P397R|ANKHD1_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 917 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTCTCCACCATCGGCAGAA 0.413 NA 32 44 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201942 140201942 + Silent SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:140201942T>G uc003lhl.2 + 1 582 c.582T>G c.(580-582)GTT>GTG p.V194V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.V194V|PCDHA5_uc003lhj.1_Silent_p.V194V NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 194 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGAGCTGGTTTTGAGGAAAT 0.353 NA 24 38 0 0 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553578 140553578 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:140553578G>A uc003lit.2 + 1 1336 c.1162G>A c.(1162-1164)GAT>AAT p.D388N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 388 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATCCAGGACGATGTCCCCTT 0.468 NA 5 35 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140778379 140778379 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:140778379C>T uc003lkf.1 + 1 685 c.685C>T c.(685-687)CGG>TGG p.R229W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R229W NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 229 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGAGCTCCGGATCCAGGT 0.547 NA 50 59 0 0 0 0 CYFIP2 26999 broad.mit.edu 37 5 156786087 156786087 + Silent SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:156786087C>A uc003lwq.2 + 26 2886 c.2748C>A c.(2746-2748)ATC>ATA p.I916I CYFIP2_uc011ddn.1_Silent_p.I890I|CYFIP2_uc011ddo.1_Silent_p.I720I|CYFIP2_uc003lwr.2_Silent_p.I916I|CYFIP2_uc003lws.2_Silent_p.I916I|CYFIP2_uc003lwt.2_Silent_p.I819I|CYFIP2_uc011ddp.1_Silent_p.I650I NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 941 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAAGACTATCTGCAGACTCC 0.488 NA 51 73 4.01e-20 8.16e-20 1 0 RNF145 153830 broad.mit.edu 37 5 158588301 158588301 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:158588301G>T uc003lxp.2 - 10 1912 c.1599C>A c.(1597-1599)CAC>CAA p.H533Q RNF145_uc011ddy.1_Missense_Mutation_p.H547Q|RNF145_uc003lxo.1_Missense_Mutation_p.H561Q|RNF145_uc011ddz.1_Missense_Mutation_p.H550Q|RNF145_uc010jiq.1_Missense_Mutation_p.H563Q NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 533 integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAATATCATTGTGTTTCTCAA 0.433 NA 6 39 2.77e-08 5.32e-08 1 0 UIMC1 51720 broad.mit.edu 37 5 176395738 176395738 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:176395738C>G uc011dfp.1 - 6 1185 c.1018G>C c.(1018-1020)GAG>CAG p.E340Q UIMC1_uc003mfc.1_Missense_Mutation_p.E217Q|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 340 AIR. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTAGCCTGCTCTCCTTGGCCA 0.463 NA 43 49 0 0 0 0 GMDS 2762 broad.mit.edu 37 6 1742785 1742785 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:1742785C>A uc003mtq.2 - 8 997 c.807G>T c.(805-807)GAG>GAT p.E269D NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 269 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TAACGAAGTCCTCCGGCTCAT 0.448 NA 21 36 3.62e-10 7.1e-10 1 0 KDM1B 221656 broad.mit.edu 37 6 18217997 18217997 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:18217997C>T uc003nco.1 + 14 1732 c.1657C>T c.(1657-1659)CGG>TGG p.R553W KDM1B_uc003ncn.1_Missense_Mutation_p.R524W|KDM1B_uc003ncp.1_Missense_Mutation_p.R109W|KDM1B_uc003ncq.1_Missense_Mutation_p.R109W NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 756 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 TTTTGTCACTCGGTGGAGCAC 0.418 NA 32 39 0 0 0 0 C6orf62 81688 broad.mit.edu 37 6 24706378 24706378 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:24706378T>C uc003nel.2 - 5 1184 c.677A>G c.(676-678)TAT>TGT p.Y226C NM_030939 NP_112201 Q9GZU0 CF062_HUMAN hypothetical protein LOC81688 226 intracellular 0 CTCTGGCATATAAGGACGGAG 0.443 NA 25 21 0 0 0 0 SCGN 10590 broad.mit.edu 37 6 25701545 25701545 + Silent SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:25701545G>T uc003nfb.2 + 11 1016 c.813G>T c.(811-813)GGG>GGT p.G271G SCGN_uc010jpz.2_Silent_p.G162G NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 271 EF-hand 6. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 TGTGTCTTGGGCTGAAAATCA 0.463 NA 24 34 7.88e-14 1.59e-13 1 0 HIST1H2AK 8330 broad.mit.edu 37 6 27805943 27805943 + Missense_Mutation SNP G G C rs144042626 TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:27805943G>C uc003njs.2 - 1 175 c.175C>G c.(175-177)CTA>GTA p.L59V HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 59 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 TCGGCGGTTAGGTACTCCAAC 0.667 NA 12 91 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32020624 32020624 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:32020624C>T uc003nzl.2 - 26 9134 c.8932G>A c.(8932-8934)GAC>AAC p.D2978N NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3025 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GTGAAGGAGTCGAAGCGGCCC 0.701 NA 29 20 0 0 0 0 ENPP4 22875 broad.mit.edu 37 6 46107712 46107712 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:46107712G>A uc003oxy.2 + 2 651 c.392G>A c.(391-393)AGT>AAT p.S131N NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 131 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 AACAGATCAAGTGCTGCTGCT 0.413 NA 37 54 0 0 0 0 KIAA1586 57691 broad.mit.edu 37 6 56917579 56917579 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:56917579C>T uc003pdj.2 + 4 452 c.282C>T c.(280-282)AGC>AGT p.S94S KIAA1586_uc011dxm.1_Silent_p.S67S NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 94 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATGAAGTGAGCAAAAATCACT 0.338 NA 10 42 0 0 0 0 LGSN 51557 broad.mit.edu 37 6 63990178 63990178 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:63990178G>A uc003peh.2 - 4 1312 c.1278C>T c.(1276-1278)GCC>GCT p.A426A LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 426 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) CATCTAAGCCGGCAGCAACAG 0.453 NA 14 53 0 0 0 0 HTR1E 3354 broad.mit.edu 37 6 87725635 87725635 + Missense_Mutation SNP T T A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:87725635T>A uc003pli.2 + 2 1286 c.583T>A c.(583-585)TTG>ATG p.L195M NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 195 Helical; Name=5; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TTATATCCCCTTGACTTTGAT 0.507 NA 9 34 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100838914 100838914 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:100838914C>T uc003pqj.3 - 11 1831 c.1624G>A c.(1624-1626)GCC>ACC p.A542T SIM1_uc010kcu.2_Missense_Mutation_p.A542T NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 542 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GATTCACTGGCCGACCCAGGG 0.438 NA 4 55 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112510314 112510314 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:112510314A>G uc003pvu.2 - 7 1121 c.812T>C c.(811-813)ATA>ACA p.I271T LAMA4_uc003pvv.2_Intron|LAMA4_uc003pvt.2_Intron NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 271 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATTTTTACTTATGGTTGGGCA 0.468 NA 4 21 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118887417 118887417 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:118887417T>C uc003pxz.1 - 3 883 c.295A>G c.(295-297)ACT>GCT p.T99A C6orf204_uc003pya.1_Missense_Mutation_p.T102A|C6orf204_uc003pyb.2_Missense_Mutation_p.T99A|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.T102A|C6orf204_uc011ebl.1_5'UTR NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 99 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) ACATGGGCAGTAGGAAGAGTA 0.383 NA 6 27 0 0 0 0 OLIG3 167826 broad.mit.edu 37 6 137815177 137815177 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:137815177T>C uc003qhp.1 - 1 355 c.131A>G c.(130-132)CAG>CGG p.Q44R NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CATATCGCCCTGCGTGGACGA 0.512 NA 35 63 0 0 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947962 21947962 + Missense_Mutation SNP T T G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:21947962T>G uc010kuk.2 - 4 587 c.467A>C c.(466-468)AAA>ACA p.K156T CDCA7L_uc003sve.3_Missense_Mutation_p.K122T|CDCA7L_uc010kul.2_Missense_Mutation_p.K110T|CDCA7L_uc003svf.3_Missense_Mutation_p.K155T|CDCA7L_uc011jyk.1_Missense_Mutation_p.K156T NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 156 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 TTTATCTGGTTTGTTGGCCAG 0.423 NA 4 59 0 0 0 0 STK31 56164 broad.mit.edu 37 7 23809341 23809341 + Nonsense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:23809341C>A uc003sws.3 + 13 1746 c.1679C>A c.(1678-1680)TCA>TAA p.S560* STK31_uc003swt.3_Nonsense_Mutation_p.S537*|STK31_uc011jze.1_Nonsense_Mutation_p.S560*|STK31_uc010kuq.2_Nonsense_Mutation_p.S537* NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 560 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 AAGACTGAGTCAAGTGTCTGC 0.378 NA 36 96 3.21e-22 6.58e-22 1 0 HECW1 23072 broad.mit.edu 37 7 43590145 43590145 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:43590145C>T uc003tid.1 + 27 4955 c.4350C>T c.(4348-4350)CGC>CGT p.R1450R HECW1_uc011kbi.1_Silent_p.R1416R NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1450 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GGGTGGAGCGCGGCGTGGTAC 0.627 NA 8 6 0 0 0 0 SEMA3C 10512 broad.mit.edu 37 7 80432017 80432017 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:80432017C>T uc003uhj.2 - 9 1442 c.880G>A c.(880-882)GAT>AAT p.D294N SEMA3C_uc011kgw.1_Missense_Mutation_p.D312N|SEMA3C_uc011kgx.1_Missense_Mutation_p.D146N NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 294 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 CCGTCTTCATCTGTTACCGAG 0.383 NA 6 69 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82784624 82784624 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:82784624C>A uc003uhx.2 - 2 1622 c.1333G>T c.(1333-1335)GGG>TGG p.G445W PCLO_uc003uhv.2_Missense_Mutation_p.G445W NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 396 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTCCTGGCCCAGGCTGCTGA 0.577 NA 46 87 1.85e-21 3.77e-21 1 0 AKAP9 10142 broad.mit.edu 37 7 91691800 91691800 + Nonsense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:91691800C>T uc003ulg.2 + 24 6202 c.5977C>T c.(5977-5979)CAA>TAA p.Q1993* AKAP9_uc003ulf.2_Nonsense_Mutation_p.Q1993*|AKAP9_uc003uli.2_Nonsense_Mutation_p.Q1616* NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2005 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGTTGAACAACGTAAGTATTT 0.393 NA T BRAF papillary thyroid 5 56 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94054509 94054509 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:94054509C>T uc003ung.1 + 42 3225 c.2754C>T c.(2752-2754)AAC>AAT p.N918N COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 918 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGGAGTCAACGGTGCTCCTG 0.522 NA HNSCC(75;0.22) 4 43 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98567840 98567840 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:98567840C>T uc003upp.2 + 51 7806 c.7597C>T c.(7597-7599)CGT>TGT p.R2533C TRRAP_uc011kis.1_Missense_Mutation_p.R2515C|TRRAP_uc003upr.2_Missense_Mutation_p.R2232C NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2533 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TAGCCACGACCGTGCCGCCTT 0.632 NA 22 74 0 0 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99128782 99128782 + Nonsense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:99128782C>G uc003uqv.2 + 7 1554 c.1430C>G c.(1429-1431)TCA>TGA p.S477* ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.S477*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.S477*|ZKSCAN5_uc003uqx.2_Nonsense_Mutation_p.S404*|ZKSCAN5_uc003uqy.2_Nonsense_Mutation_p.S213* NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 477 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAGAAAATTTCAGAATATTCA 0.318 NA 11 145 0 0 0 0 ACHE 43 broad.mit.edu 37 7 100491265 100491265 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:100491265C>G uc003uxd.2 - 1 745 c.589G>C c.(589-591)GAG>CAG p.E197Q ACHE_uc003uxe.2_Missense_Mutation_p.E197Q|ACHE_uc003uxf.2_Missense_Mutation_p.E197Q|ACHE_uc003uxg.2_Missense_Mutation_p.E197Q|ACHE_uc003uxh.2_Missense_Mutation_p.E197Q|ACHE_uc003uxi.2_Missense_Mutation_p.E197Q|ACHE_uc003uxj.1_Missense_Mutation_p.E316Q NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 197 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCCGGGGCCTCTCGGCTCCCC 0.652 NA 20 86 0 0 0 0 RAB19 401409 broad.mit.edu 37 7 140125753 140125753 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:140125753G>T uc010lni.2 + 4 655 c.457G>T c.(457-459)GGC>TGC p.G153C RAB19_uc011krc.1_Missense_Mutation_p.G153C NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 153 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Melanoma(164;0.0142) TGAGAAGTACGGCCTCCTGGC 0.522 NA 42 87 1.63e-23 3.35e-23 1 0 DPP6 1804 broad.mit.edu 37 7 154561126 154561126 + Splice_Site SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr7:154561126G>C uc003wlk.2 + 9 1013 c.884_splice c.e9-1 p.E295_splice DPP6_uc003wli.2_Splice_Site_p.E231_splice|DPP6_uc003wlm.2_Splice_Site_p.E233_splice|DPP6_uc011kvq.1_Splice_Site_p.E188_splice NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTTTCCCTTAGAGGAGATTTT 0.512 NA 8 71 0 0 0 0 CLN8 2055 broad.mit.edu 37 8 1719415 1719415 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:1719415C>T uc003wpo.3 + 2 500 c.195C>T c.(193-195)GAC>GAT p.D65D NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 65 TLC.|Helical; (Potential). cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) TCTTCTGGGACCTGGCGGCCA 0.612 NA 11 42 0 0 0 0 MYOM2 9172 broad.mit.edu 37 8 2044180 2044180 + Missense_Mutation SNP C C T rs149624495 byFrequency TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:2044180C>T uc003wpx.3 + 18 2357 c.2219C>T c.(2218-2220)TCG>TTG p.S740L MYOM2_uc011kwi.1_Missense_Mutation_p.S165L NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 740 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) AGTGGTGGCTCGCCCATCCTG 0.557 NA 36 46 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 4494992 4494992 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:4494992G>A uc011kwk.1 - 2 564 c.174C>T c.(172-174)TGC>TGT p.C58C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 58 Extracellular (Potential).|CUB 1. 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) TGATCCAGGTGCAGTTGGCAT 0.478 NA 5 79 0 0 0 0 SLC18A1 6570 broad.mit.edu 37 8 20008242 20008242 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:20008242C>A uc011kyq.1 - 12 1500 c.1029G>T c.(1027-1029)TTG>TTT p.L343F SLC18A1_uc003wzl.2_Missense_Mutation_p.L130F|SLC18A1_uc003wzm.2_Missense_Mutation_p.L343F|SLC18A1_uc011kyr.1_Missense_Mutation_p.L343F|SLC18A1_uc003wzn.2_Missense_Mutation_p.L311F|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.L311F NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 343 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) CACTGGCAGGCAAGAAAGCTA 0.498 NA 20 70 1.56e-12 3.12e-12 1 0 ENTPD4 9583 broad.mit.edu 37 8 23302048 23302048 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:23302048C>G uc003xdl.2 - 5 648 c.484G>C c.(484-486)GAG>CAG p.E162Q ENTPD4_uc011kzu.1_Missense_Mutation_p.E162Q|ENTPD4_uc003xdm.2_Missense_Mutation_p.E162Q|ENTPD4_uc011kzv.1_Missense_Mutation_p.E162Q|ENTPD4_uc011kzw.1_Missense_Mutation_p.E128Q NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 162 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GGCACATGCTCTGCAGCAAAG 0.453 NA 4 68 0 0 0 0 STAR 6770 broad.mit.edu 37 8 38005823 38005823 + Silent SNP G G C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:38005823G>C uc003xkv.1 - 3 465 c.201C>G c.(199-201)CTC>CTG p.L67L STAR_uc010lwc.1_Silent_p.L29L NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 67 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GGTCACTGTAGAGAGTCTCTT 0.582 NA 3 24 0 0 0 0 BAG4 9530 broad.mit.edu 37 8 38066593 38066593 + Silent SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:38066593A>G uc003xky.1 + 4 978 c.696A>G c.(694-696)TCA>TCG p.S232S BAG4_uc003xkz.1_Silent_p.S196S NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 232 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) TTCCACAATCAGGACCGACTG 0.498 NA 6 26 0 0 0 0 YTHDF3 253943 broad.mit.edu 37 8 64099527 64099527 + Nonsense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:64099527C>T uc003xuy.2 + 5 1274 c.958C>T c.(958-960)CAA>TAA p.Q320* YTHDF3_uc010lys.2_Nonsense_Mutation_p.Q264*|YTHDF3_uc003xuz.2_Nonsense_Mutation_p.Q264*|YTHDF3_uc003xva.2_Nonsense_Mutation_p.Q264*|YTHDF3_uc011len.1_Nonsense_Mutation_p.Q264* NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 320 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) CCAACTGCCTCAACAGCAGCC 0.547 NA 8 24 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113585856 113585856 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:113585856G>A uc003ynu.2 - 24 4075 c.3916C>T c.(3916-3918)CTA>TTA p.L1306L CSMD3_uc003yns.2_Silent_p.L578L|CSMD3_uc003ynt.2_Silent_p.L1266L|CSMD3_uc011lhx.1_Silent_p.L1202L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1306 Extracellular (Potential).|CUB 7. 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 GCACCTAGTAGATGAGTCGTT 0.333 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 43 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121282288 121282288 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:121282288A>G uc003yox.2 + 26 3353 c.3088A>G c.(3088-3090)AAG>GAG p.K1030E COL14A1_uc003yoz.2_5'UTR NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1030 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAAGGCGGCCAAGGCTGACCT 0.403 NA 5 55 0 0 0 0 TRMT12 55039 broad.mit.edu 37 8 125463521 125463521 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:125463521G>T uc003yra.3 + 1 474 c.353G>T c.(352-354)CGG>CTG p.R118L NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 118 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GTGGAGGGTCGGGGAGTCAAG 0.557 NA 5 94 0.00116845 0.00203045 1 0 KHDRBS3 10656 broad.mit.edu 37 8 136594129 136594129 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr8:136594129G>A uc003yuv.2 + 6 1014 c.620G>A c.(619-621)GGA>GAA p.G207E KHDRBS3_uc003yuw.2_Missense_Mutation_p.G207E|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 207 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) AGGGGAAGGGGAGGAGTTACA 0.483 NA 25 72 0 0 0 0 MPDZ 8777 broad.mit.edu 37 9 13216781 13216781 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:13216781T>C uc010mia.1 - 9 1339 c.1282A>G c.(1282-1284)ATT>GTT p.I428V MPDZ_uc010mhy.2_Missense_Mutation_p.I428V|MPDZ_uc010mhz.2_Missense_Mutation_p.I428V|MPDZ_uc011lmn.1_Missense_Mutation_p.I428V|MPDZ_uc003zlb.3_Missense_Mutation_p.I428V NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 428 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ACTGCTATAATTTGGTCTCCA 0.323 NA 10 12 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:21971028C>T uc003zpk.2 - 2 542 c.330G>A c.(328-330)TGG>TGA p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. 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.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(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) GCAGACGGCCCCAGGCATCGC 0.736 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) 11 15 0 0 0 0 UBAP2 55833 broad.mit.edu 37 9 33927875 33927875 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:33927875G>A uc003ztq.1 - 20 2404 c.2291C>T c.(2290-2292)ACC>ATC p.T764I UBAP2_uc011loc.1_Missense_Mutation_p.T673I|UBAP2_uc011lod.1_Missense_Mutation_p.T497I|UBAP2_uc011loe.1_Missense_Mutation_p.T519I|UBAP2_uc011lof.1_Missense_Mutation_p.T689I|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Missense_Mutation_p.T3I|UBAP2_uc003zto.1_Missense_Mutation_p.T3I|UBAP2_uc003ztp.1_Missense_Mutation_p.T3I NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 764 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GCTGTTCGCGGTGTTCATGCT 0.637 NA 30 44 0 0 0 0 KIF24 347240 broad.mit.edu 37 9 34310897 34310897 + Missense_Mutation SNP T T C TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:34310897T>C uc003zua.3 - 2 568 c.448A>G c.(448-450)AAA>GAA p.K150E KIF24_uc010mkb.2_Missense_Mutation_p.K181E NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 150 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) ATTCCTGTTTTTGTATGGTAC 0.403 NA 28 124 0 0 0 0 S1PR3 1903 broad.mit.edu 37 9 91617076 91617076 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:91617076C>T uc004aqe.2 + 2 1357 c.961C>T c.(961-963)CGG>TGG p.R321W NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 321 Cytoplasmic (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 GGTCAGGGGACGGGGGGCCCG 0.612 NA 19 29 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900082 112900082 + Missense_Mutation SNP C C G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:112900082C>G uc004bei.2 + 9 3146 c.2954C>G c.(2953-2955)TCT>TGT p.S985C PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S753C|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S753C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S563C|AKAP2_uc011lwi.1_Missense_Mutation_p.S611C|AKAP2_uc004bem.2_Missense_Mutation_p.S611C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S571C|AKAP2_uc011lwj.1_Missense_Mutation_p.S522C|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.S522C NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 522 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 GCTGATTTTTCTCTGCCCCAG 0.507 NA 6 101 0 0 0 0 ZNF618 114991 broad.mit.edu 37 9 116810994 116810994 + Missense_Mutation SNP A A G TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:116810994A>G uc004bid.2 + 15 1511 c.1412A>G c.(1411-1413)GAG>GGG p.E471G ZNF618_uc004bic.2_Missense_Mutation_p.E378G|ZNF618_uc011lxi.1_Missense_Mutation_p.E438G|ZNF618_uc011lxj.1_Missense_Mutation_p.E439G|ZNF618_uc010mvb.2_Missense_Mutation_p.E61G NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AACATCGCAGAGCGGCTGTTG 0.557 NA 25 63 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 119495733 119495733 + Silent SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:119495733C>T uc004bjs.1 - 14 2567 c.2466G>A c.(2464-2466)GAG>GAA p.E822E ASTN2_uc004bjr.1_Silent_p.E818E|ASTN2_uc004bjt.1_Silent_p.E771E NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 822 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GGCACTGCTCCTCCACCGGCA 0.602 NA 33 84 0 0 0 0 CRB2 286204 broad.mit.edu 37 9 126132410 126132410 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:126132410G>A uc004bnx.1 + 7 1170 c.1078G>A c.(1078-1080)GAT>AAT p.D360N CRB2_uc004bnw.1_Missense_Mutation_p.D360N NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 360 Extracellular (Potential).|EGF-like 8; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GGAAGATGTGGATGAATGCCT 0.572 NA 23 75 0 0 0 0 NUP214 8021 broad.mit.edu 37 9 134073597 134073597 + Silent SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:134073597G>T uc004cag.2 + 29 4827 c.4716G>T c.(4714-4716)ACG>ACT p.T1572T NUP214_uc004cah.2_Silent_p.T1562T|NUP214_uc004cai.2_Silent_p.T1002T|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.T398T|NUP214_uc011mcf.1_Silent_p.T349T|NUP214_uc010mzh.1_Silent_p.T86T|NUP214_uc010mzi.1_Silent_p.T86T NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1572 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CAGCCACCACGGGGGTCCCTG 0.577 NA T DEK|SET|ABL1 AML|T-ALL 6 113 0.00116845 0.00203045 1 0 COL5A1 1289 broad.mit.edu 37 9 137593123 137593123 + Missense_Mutation SNP G G A rs142890619 byFrequency TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:137593123G>A uc004cfe.2 + 4 980 c.598G>A c.(598-600)GAC>AAC p.D200N NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 200 TSP N-terminal.|Laminin G-like. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCCATGATCGACATCAATGG 0.542 NA 4 22 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393659 139393659 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr9:139393659G>A uc004chz.2 - 32 5987 c.5987C>T c.(5986-5988)ACG>ATG p.T1996M NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1996 ANK 3.|Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.T1997M(1) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGTGGCGTCGTGCCATCATG 0.647 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 6 51 0 0 0 0 ARSF 416 broad.mit.edu 37 X 3021856 3021856 + Nonsense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chrX:3021856C>T uc004cre.1 + 9 1377 c.1156C>T c.(1156-1158)CGA>TGA p.R386* ARSF_uc004crf.1_Nonsense_Mutation_p.R386* NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 386 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 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) AGGAATTGTCCGATGGCCTGG 0.458 NA 12 11 0 0 0 0 MID1 4281 broad.mit.edu 37 X 10437743 10437743 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chrX:10437743C>T uc004cte.3 - 7 1470 c.1279G>A c.(1279-1281)GTC>ATC p.V427I MID1_uc004ctd.3_Missense_Mutation_p.V138I|MID1_uc004ctg.3_Missense_Mutation_p.V427I|MID1_uc004cth.3_Missense_Mutation_p.V389I|MID1_uc004ctk.3_Missense_Mutation_p.V427I|MID1_uc004cti.3_Missense_Mutation_p.V427I|MID1_uc004ctj.3_Missense_Mutation_p.V427I|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.V478I|MID1_uc004ctn.1_Missense_Mutation_p.V427I|MID1_uc004cto.1_Missense_Mutation_p.V389I|MID1_uc004csz.3_Missense_Mutation_p.V99I|MID1_uc004cta.3_Missense_Mutation_p.V183I|MID1_uc004ctb.3_Missense_Mutation_p.V87I|MID1_uc004ctc.3_Missense_Mutation_p.V194I|MID1_uc004ctl.1_Missense_Mutation_p.V183I NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 427 Fibronectin type-III. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 TCACTAACGACGTTGGCTTGT 0.443 NA 21 37 0 0 0 0 MAGEA1 4100 broad.mit.edu 37 X 152483002 152483002 + Silent SNP A A T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chrX:152483002A>T uc004fhf.2 - 3 229 c.9T>A c.(7-9)CTT>CTA p.L3L NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 3 cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCTCTGCTCAAGAGACATGA 0.622 NA 36 18 0 0 0 0 HTR6 3362 broad.mit.edu 37 1 20005114 20005126 + Frame_Shift_Del DEL ACGAAGCACAGCA ACGAAGCACAGCA - rs143893286 byFrequency TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr1:20005114_20005126delACGAAGCACAGCA uc001bcl.2 + 2 1236_1248 c.769_781delACGAAGCACAGCA c.(769-783)ACGAAGCACAGCAGGfs p.T257fs NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 257_261 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) GCGTCTAGCCACGAAGCACAGCAGGAAGGCCCT 0.615 NA 12 33 --- --- --- --- NA NA NA NA CUBN 8029 broad.mit.edu 37 10 17127720 17127720 + Frame_Shift_Del DEL C C - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:17127720delC uc001ioo.2 - 16 2038 c.1986delG c.(1984-1986)GGGfs p.G662fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 662 CUB 2. 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) TGCAGAACTTCCCAAGAAGGG 0.458 NA 23 46 --- --- --- --- NA NA NA NA EGR2 1959 broad.mit.edu 37 10 64573002 64573003 + Frame_Shift_Del DEL GC GC - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr10:64573002_64573003delGC uc010qim.1 - 3 1549_1550 c.1395_1396delGC c.(1393-1398)CCGCTCfs p.P465fs EGR2_uc010qin.1_Frame_Shift_Del_p.P415fs|EGR2_uc001jmi.2_Frame_Shift_Del_p.P465fs|EGR2_uc010qio.1_Frame_Shift_Del_p.P478fs|EGR2_uc009xph.2_Frame_Shift_Del_p.P465fs NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 465_466 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CAAGGGGCGAGCGGCCCTCCGC 0.653 NA 7 119 --- --- --- --- NA NA NA NA NUMA1 4926 broad.mit.edu 37 11 71727303 71727306 + Frame_Shift_Del DEL CCAG CCAG - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr11:71727303_71727306delCCAG uc001orl.1 - 15 1415_1418 c.1243_1246delCTGG c.(1243-1248)CTGGAAfs p.L415fs NUMA1_uc009ysw.1_5'UTR|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Frame_Shift_Del_p.L415fs|NUMA1_uc001orn.2_5'UTR|NUMA1_uc009ysx.1_Frame_Shift_Del_p.L415fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.L415fs NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 415_416 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TTCAAGGTTTCCAGCTGGTGGTAT 0.51 NA T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 80 --- --- --- --- NA NA NA NA VPS13C 54832 broad.mit.edu 37 15 62165605 62165612 + Splice_Site DEL CCACCTAT CCACCTAT - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr15:62165605_62165612delCCACCTAT uc002agz.2 - 78 10489 c.10415_splice c.e78-1 p.G3472_splice VPS13C_uc002aha.2_Splice_Site_p.G3429_splice|VPS13C_uc002ahb.1_Splice_Site_p.G3472_splice|VPS13C_uc002ahc.1_Splice_Site_p.G3429_splice NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A protein localization ovary(2) 2 TCCTGCTGCaccacctatcaaagacaag 0.207 NA 12 172 --- --- --- --- NA NA NA NA NLRC4 58484 broad.mit.edu 37 2 32475056 32475056 + Frame_Shift_Del DEL T T - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr2:32475056delT uc002roi.2 - 4 2123 c.1877delA c.(1876-1878)AAGfs p.K626fs NLRC4_uc002roj.1_Frame_Shift_Del_p.K626fs|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 626 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCTGCAGCCTTTTCCCATGA 0.458 NA 7 300 --- --- --- --- NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137889026 137889034 + In_Frame_Del DEL CAAAATGAC CAAAATGAC - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr3:137889026_137889034delCAAAATGAC uc003erv.2 - 4 540_548 c.404_412delGTCATTTTG c.(403-414)GGTCATTTTGAG>GAG p.GHF135del DBR1_uc003eru.2_In_Frame_Del_p.GHF84del NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 135_137 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 GGGGGGCACTCAAAATGACCTTAGATTGA 0.316 NA 9 103 --- --- --- --- NA NA NA NA SLC27A6 28965 broad.mit.edu 37 5 128359396 128359397 + Frame_Shift_Ins INS - - A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr5:128359396_128359397insA uc003kuy.2 + 7 1644_1645 c.1248_1249insA c.(1246-1251)GTGAAAfs p.V416fs SLC27A6_uc003kuz.2_Frame_Shift_Ins_p.V416fs NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 416_417 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTATTCATGTGAAAAAAGGTAA 0.277 NA 20 36 --- --- --- --- NA NA NA NA SLC16A10 117247 broad.mit.edu 37 6 111498539 111498558 + Frame_Shift_Del DEL ATTGTCACTGCTGGCAGCAG ATTGTCACTGCTGGCAGCAG - rs116051634 by1000genomes TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:111498539_111498558delATTGTCACTGCTGGCAGCAG uc003pus.2 + 3 788_807 c.613_632delATTGTCACTGCTGGCAGCAG c.(613-633)ATTGTCACTGCTGGCAGCAGTfs p.I205fs SLC16A10_uc003pur.3_Frame_Shift_Del_p.I205fs|SLC16A10_uc003put.2_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 205_211 Helical; (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GGTGAATGGCATTGTCACTGCTGGCAGCAGTGTCTTCACA 0.482 NA 7 64 --- --- --- --- NA NA NA NA ECT2L 345930 broad.mit.edu 37 6 139167765 139167769 + Frame_Shift_Del DEL CTCTC CTCTC - TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 511c3fa8-476b-4ee8-8e93-1ab46bc40dbe d4851311-cced-411f-bd9c-3179c2580e42 g.chr6:139167765_139167769delCTCTC uc003qif.1 + 6 957_961 c.854_858delCTCTC c.(853-858)GCTCTCfs p.A285fs ECT2L_uc011edq.1_Frame_Shift_Del_p.A216fs NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 285_286 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TCTTCATATGCTCTCCGGCCACACT 0.376 NA 10 181 --- --- --- --- NA NA NA NA