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 GPR153 387509 broad.mit.edu 37 1 6314738 6314738 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:6314738G>A uc001amp.1 - 2 488 c.228C>T c.(226-228)TTC>TTT p.F76F NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 76 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) CATTCCACTCGAAGTCGGGGC 0.612000 CLCNKB 1188 broad.mit.edu 37 1 16375656 16375656 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:16375656G>A uc001axw.3 + 8 777 c.697G>A c.(697-699)GTC>ATC p.V233I FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V233I|CLCNKB_uc001axy.3_Missense_Mutation_p.V64I NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 233 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCACTTCTCTGTCTGGGATTA 0.632000 PTPRF 5792 broad.mit.edu 37 1 44071064 44071064 + Silent SNP C C T rs148630488 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:44071064C>T uc001cjr.2 + 18 3679 c.3339C>T c.(3337-3339)GAC>GAT p.D1113D PTPRF_uc001cjs.2_Silent_p.D1104D|PTPRF_uc001cju.2_Silent_p.D491D|PTPRF_uc009vwt.2_Silent_p.D673D|PTPRF_uc001cjv.2_Silent_p.D573D|PTPRF_uc001cjw.2_Silent_p.D339D NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1113 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACATAGAGGACGGCCGCTTCG 0.667000 CYP4X1 260293 broad.mit.edu 37 1 47501734 47501734 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:47501734C>T uc001cqt.2 + 6 916 c.666C>T c.(664-666)ATC>ATT p.I222I CYP4X1_uc001cqr.2_Silent_p.I221I|CYP4X1_uc001cqs.2_Silent_p.I157I NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 222 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 TCAGCAAAATCATATTTCACC 0.383000 ASB17 127247 broad.mit.edu 37 1 76397900 76397900 + Missense_Mutation SNP A A T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:76397900A>T uc001dhe.1 - 1 217 c.77T>A c.(76-78)ATT>AAT p.I26N ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 26 intracellular signal transduction ovary(1) 1 TCTTTTAACAATTTTGTCAAG 0.378000 ATP8B2 57198 broad.mit.edu 37 1 154313404 154313404 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:154313404C>T uc001fex.2 + 13 1208 c.1208C>T c.(1207-1209)ACG>ATG p.T403M NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 389 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AAGAAGCGGACGCCTGCAGAA 0.567000 POGK 57645 broad.mit.edu 37 1 166819614 166819614 + Missense_Mutation SNP T T A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:166819614T>A uc001gdt.1 + 5 1918 c.1798T>A c.(1798-1800)TGT>AGT p.C600S POGK_uc010ple.1_Missense_Mutation_p.C515S|POGK_uc010plf.1_Missense_Mutation_p.C482S NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 600 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 ACCAAAAGATTGTGACACCGA 0.348000 GORAB 92344 broad.mit.edu 37 1 170508603 170508603 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:170508603G>A uc001gha.2 + 2 416 c.389G>A c.(388-390)AGT>AAT p.S130N GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Missense_Mutation_p.S130N|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 130 Golgi apparatus|nucleus 0 GGCATTGAAAGTCAGCCAAAG 0.448000 FMO3 2328 broad.mit.edu 37 1 171083421 171083421 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:171083421G>A uc001ghi.2 + 7 1213 c.1102G>A c.(1102-1104)GTG>ATG p.V368M FMO3_uc001ghh.2_Missense_Mutation_p.V368M|FMO3_uc010pmb.1_Missense_Mutation_p.V348M|FMO3_uc010pmc.1_Missense_Mutation_p.V305M NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 368 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACCATAGCAGTGATTGGCTT 0.448000 PTPRC 5788 broad.mit.edu 37 1 198721391 198721391 + Missense_Mutation SNP A A C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:198721391A>C uc001gur.1 + 30 3395 c.3215A>C c.(3214-3216)CAG>CCG p.Q1072P PTPRC_uc001gus.1_Missense_Mutation_p.Q1024P|PTPRC_uc001gut.1_Missense_Mutation_p.Q911P NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1072 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ATCTGTGCTCAGTACTGGGGA 0.378000 C1orf124 83932 broad.mit.edu 37 1 231488616 231488616 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:231488616G>A uc001hur.2 + 5 1427 c.979G>A c.(979-981)GTT>ATT p.V327I C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 327 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TCACCAAAATGTTCTAAGCAA 0.388000 OR2G3 81469 broad.mit.edu 37 1 247769302 247769302 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr1:247769302C>T uc010pyz.1 + 1 415 c.415C>T c.(415-417)CGG>TGG p.R139W NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATGAACCCACGGCTTTGCCA 0.512000 NRP1 8829 broad.mit.edu 37 10 33496543 33496543 + Silent SNP G G T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr10:33496543G>T uc001iwx.3 - 10 2239 c.1716C>A c.(1714-1716)GGC>GGA p.G572G NRP1_uc001iwv.3_Silent_p.G572G|NRP1_uc009xlz.2_Silent_p.G572G|NRP1_uc001iww.3_Silent_p.G391G|NRP1_uc001iwy.3_Silent_p.G572G|NRP1_uc001iwz.2_Silent_p.G572G|NRP1_uc001ixa.2_Silent_p.G572G|NRP1_uc001ixb.1_Silent_p.G572G NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 572 Extracellular (Potential).|F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GCCCCAGTCCGCCATGAGTGG 0.493000 C10orf137 26098 broad.mit.edu 37 10 127429072 127429072 + Silent SNP A A C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr10:127429072A>C uc001liq.1 + 16 2315 c.2022A>C c.(2020-2022)GGA>GGC p.G674G C10orf137_uc001lin.2_Silent_p.G640G|C10orf137_uc001lio.1_Silent_p.G640G|C10orf137_uc001lip.1_Silent_p.G378G|C10orf137_uc001lir.2_Silent_p.G168G|C10orf137_uc001lis.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GTCAATCTGGAATGATCCCTG 0.423000 DPYSL4 10570 broad.mit.edu 37 10 134006210 134006210 + Silent SNP C C T rs142922640 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr10:134006210C>T uc009ybb.2 + 3 331 c.177C>T c.(175-177)GAC>GAT p.D59D NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 59 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) AGACCATTGACGCCCACGGCC 0.582000 OR52H1 390067 broad.mit.edu 37 11 5566092 5566092 + Missense_Mutation SNP A A G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:5566092A>G uc010qzh.1 - 1 662 c.662T>C c.(661-663)CTC>CCC p.L221P HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 221 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACAGCAATGAGAATCACATC 0.507000 AHNAK 79026 broad.mit.edu 37 11 62290003 62290003 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:62290003G>A uc001ntl.2 - 5 12186 c.11886C>T c.(11884-11886)GAC>GAT p.D3962D AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3962 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GTCCTGAGACGTCAAGGTCAG 0.483000 SLC29A2 3177 broad.mit.edu 37 11 66133938 66133938 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:66133938C>T uc001oht.2 - 8 1060 c.831G>A c.(829-831)AAG>AAA p.K277K SLC29A2_uc001ohs.2_Silent_p.K157K|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.K157K|SLC29A2_uc001ohu.2_Silent_p.K277K|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 277 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 GTTTTCCTGGCTTCTGGGGCT 0.512000 CTSC 1075 broad.mit.edu 37 11 88027276 88027276 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:88027276G>A uc001pck.3 - 7 1391 c.1290C>T c.(1288-1290)GGC>GGT p.G430G CTSC_uc001pcl.3_Silent_p.G282G NM_001814 NP_001805 P53634 CATC_HUMAN cathepsin C isoform a preproprotein 430 immune response lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCCAGCCGGTGCCCCAGCTGT 0.507000 MTNR1B 4544 broad.mit.edu 37 11 92714934 92714934 + Missense_Mutation SNP A A C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:92714934A>C uc001pdk.1 + 2 648 c.545A>C c.(544-546)GAG>GCG p.E182A NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 182 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GGGTCCCTGGAGTACGACCCA 0.612000 ANGPTL5 253935 broad.mit.edu 37 11 101762246 101762246 + Missense_Mutation SNP G G C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:101762246G>C uc001pgl.2 - 9 1527 c.931C>G c.(931-933)CGC>GGC p.R311G NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 311 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CATGCAGGGCGACACCCATCA 0.438000 APOA1 335 broad.mit.edu 37 11 116706562 116706562 + Missense_Mutation SNP C C A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:116706562C>A uc001ppu.1 - 4 845 c.766G>T c.(766-768)GCT>TCT p.A256S APOA1_uc001ppv.1_Missense_Mutation_p.A256S NM_000039 NP_000030 P02647 APOA1_HUMAN apolipoprotein A-I preproprotein 256 10.|10 X approximate tandem repeats. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCCTCGAGAGCGCTCAGGAAG 0.632000 ARCN1 372 broad.mit.edu 37 11 118452182 118452182 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr11:118452182C>T uc001ptq.2 + 2 386 c.225C>T c.(223-225)AAC>AAT p.N75N ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Silent_p.N116N NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 75 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AAAACAGCAACATTTTAGAAG 0.368000 ADIPOR2 79602 broad.mit.edu 37 12 1882101 1882101 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr12:1882101G>A uc001qjm.2 + 3 462 c.265G>A c.(265-267)GAA>AAA p.E89K ADIPOR2_uc001qjn.2_Missense_Mutation_p.E89K NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 89 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) TCATGCTATGGAAAAAATGGA 0.413000 PTPRR 5801 broad.mit.edu 37 12 71158529 71158529 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr12:71158529G>A uc001swi.1 - 3 803 c.387C>T c.(385-387)AAC>AAT p.N129N PTPRR_uc010stq.1_Silent_p.N17N NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 129 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GCAAGGTTATGTTCAGCTTGT 0.378000 NAV3 89795 broad.mit.edu 37 12 78400648 78400648 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr12:78400648C>T uc001syp.2 + 8 1503 c.1330C>T c.(1330-1332)CCT>TCT p.P444S NAV3_uc001syo.2_Missense_Mutation_p.P444S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 444 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAAGTGTCACCTAAGTTGGC 0.408000 HNSCC(70;0.22) DAO 1610 broad.mit.edu 37 12 109293196 109293196 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr12:109293196G>A uc001tnr.3 + 10 1010 c.857G>A c.(856-858)CGC>CAC p.R286H DAO_uc001tnq.3_Missense_Mutation_p.R220H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 286 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 CGGCCAGTACGCCCCCAGATT 0.468000 PDS5B 23047 broad.mit.edu 37 13 33261280 33261280 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr13:33261280C>T uc010abf.2 + 12 1371 c.1213C>T c.(1213-1215)CGC>TGC p.R405C PDS5B_uc001uuo.2_Missense_Mutation_p.R405C|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_Missense_Mutation_p.R107C NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 405 HEAT. cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GTGGAGAGTACGCAAAGAAGC 0.333000 NBEA 26960 broad.mit.edu 37 13 36167537 36167537 + Missense_Mutation SNP G G A rs116439886 by1000genomes TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr13:36167537G>A uc001uvb.2 + 47 7455 c.7249G>A c.(7249-7251)GTT>ATT p.V2417I NBEA_uc010abi.2_Missense_Mutation_p.V1073I|NBEA_uc010tee.1_Missense_Mutation_p.V210I|NBEA_uc010tef.1_Missense_Mutation_p.V210I|NBEA_uc010teg.1_Missense_Mutation_p.V210I|NBEA_uc001uvd.2_5'UTR NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2417 BEACH. 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) CTTCTCATCCGTTGCAAGGTC 0.338000 DCLK1 9201 broad.mit.edu 37 13 36402445 36402445 + Splice_Site SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr13:36402445C>T uc001uvf.2 - 9 1463 c.1230_splice c.e9-1 p.R410_splice DCLK1_uc001uve.3_Splice_Site_p.R103_splice|DCLK1_uc010teh.1_Splice_Site_p.R103_splice|DCLK1_uc010abk.2_Intron NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AGCAGTCGATCTGCGAAGAGA 0.323000 FRMD6 122786 broad.mit.edu 37 14 52174910 52174910 + Nonsense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr14:52174910C>T uc001wzd.2 + 7 958 c.673C>T c.(673-675)CGA>TGA p.R225* FRMD6_uc001wzb.2_Nonsense_Mutation_p.R217*|FRMD6_uc001wzc.2_Nonsense_Mutation_p.R217*|FRMD6_uc001wze.2_Nonsense_Mutation_p.R148* NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 225 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) AGAGGCTGTCCGACTGGATGA 0.408000 RPAP1 26015 broad.mit.edu 37 15 41813089 41813089 + Missense_Mutation SNP T T A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr15:41813089T>A uc001zod.2 - 22 3419 c.3295A>T c.(3295-3297)ACC>TCC p.T1099S RPAP1_uc001zoc.2_Missense_Mutation_p.T118S NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1099 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGCCAGTCGGTGGGCAGCAGC 0.667000 CACNA1H 8912 broad.mit.edu 37 16 1259298 1259298 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr16:1259298G>A uc002cks.2 + 17 3878 c.3630G>A c.(3628-3630)CCG>CCA p.P1210P CACNA1H_uc002ckt.2_Silent_p.P1210P|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1210 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCGCCCTCCCGCCTACCAAGT 0.746000 ABCA3 21 broad.mit.edu 37 16 2331217 2331217 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr16:2331217G>A uc002cpy.1 - 28 4882 c.4170C>T c.(4168-4170)TAC>TAT p.Y1390Y ABCA3_uc010bsk.1_Silent_p.Y1332Y NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1390 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CCCGCTGCTCGTACACCTGCA 0.642000 MYH11 4629 broad.mit.edu 37 16 15931818 15931818 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr16:15931818C>T uc002ddy.2 - 2 399 c.292G>A c.(292-294)GAA>AAA p.E98K MYH11_uc002ddv.2_Missense_Mutation_p.E98K|MYH11_uc002ddw.2_Missense_Mutation_p.E98K|MYH11_uc002ddx.2_Missense_Mutation_p.E98K|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.E98K NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 98 Myosin head-like. 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 ACGGAGGCTTCGTTGAGGCAC 0.532000 T CBFB AML PPP4C 5531 broad.mit.edu 37 16 30096288 30096288 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr16:30096288G>A uc002dwe.2 + 9 973 c.829G>A c.(829-831)GAG>AAG p.E277K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.E277K|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.E198K NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 277 E->K: Abolishes interaction with PPP4R4; no effect on interaction with PPP4R1 and PPP4R2. microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 GGAGCTGGACGAGCATCTCCA 0.632000 NOB1 28987 broad.mit.edu 37 16 69782198 69782198 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr16:69782198G>A uc002exs.2 - 7 777 c.761C>T c.(760-762)GCG>GTG p.A254V NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 254 nucleus metal ion binding|protein binding 0 GCCGTTCACCGCCAGCACGTG 0.488000 MYH2 4620 broad.mit.edu 37 17 10424716 10424716 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr17:10424716G>A uc010coi.2 - 40 5835 c.5707C>T c.(5707-5709)CGC>TGC p.R1903C uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1903C|MYH2_uc010coj.2_Missense_Mutation_p.R670C NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1903 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGGAGCTTGCGGAATTTAGCT 0.473000 GPR179 440435 broad.mit.edu 37 17 36486359 36486359 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr17:36486359C>T uc002hpz.2 - 11 3114 c.3093G>A c.(3091-3093)AGG>AGA p.R1031R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1031 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CAGAGAGGGCCCTCCAGAGCC 0.597000 C1QL1 10882 broad.mit.edu 37 17 43044868 43044868 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr17:43044868G>A uc002ihv.2 - 1 777 c.549C>T c.(547-549)CGC>CGT p.R183R NM_006688 NP_006679 O75973 C1QRF_HUMAN complement component 1, q subcomponent-like 1 183 C1q. locomotory behavior collagen 0 Prostate(33;0.155) CGTCGCCGCCGCGCATGAGGA 0.642000 RSAD1 55316 broad.mit.edu 37 17 48559708 48559708 + Missense_Mutation SNP C C G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr17:48559708C>G uc002iqw.1 + 4 787 c.731C>G c.(730-732)GCC>GGC p.A244G RSAD1_uc010wmq.1_RNA NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 244 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CAGCGGGGTGCCCTTCCAGCC 0.647000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C19orf35 374872 broad.mit.edu 37 19 2280863 2280863 + Missense_Mutation SNP G G A rs141253643 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:2280863G>A uc002lvn.2 - 2 168 c.68C>T c.(67-69)ACG>ATG p.T23M SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN hypothetical protein LOC374872 23 pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGCTATACGTGGGCTGAGT 0.507000 MUC16 94025 broad.mit.edu 37 19 9090314 9090314 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:9090314C>T uc002mkp.2 - 1 1705 c.1501G>A c.(1501-1503)GGG>AGG p.G501R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 501 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCAGAGCTCCCGTGGGCAGCT 0.547000 ZNF506 440515 broad.mit.edu 37 19 19905748 19905748 + Missense_Mutation SNP C C A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:19905748C>A uc010eci.2 - 4 1096 c.948G>T c.(946-948)GAG>GAT p.E316D ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.E284D NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 316 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 TGCCACATTCCTCACATTTGT 0.378000 ZNF43 7594 broad.mit.edu 37 19 21991525 21991525 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:21991525G>A uc002nqj.2 - 4 1444 c.1314C>T c.(1312-1314)CCC>CCT p.P438P ZNF43_uc010ecv.2_Silent_p.P432P|ZNF43_uc002nql.2_Silent_p.P432P|ZNF43_uc002nqm.2_Silent_p.P432P|ZNF43_uc002nqk.2_Silent_p.P368P NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 438 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TAAGGGTTGAGGGCCAGTTAA 0.393000 C19orf2 8725 broad.mit.edu 37 19 30505944 30505944 + Missense_Mutation SNP T T C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:30505944T>C uc002nsr.2 + 11 1606 c.1576T>C c.(1576-1578)TTT>CTT p.F526L C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.F486L|C19orf2_uc002nst.2_Missense_Mutation_p.F450L NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 526 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) GGTTTCAAAGTTTAAAGCTGC 0.433000 ZNF585A 199704 broad.mit.edu 37 19 37647180 37647180 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:37647180G>A uc002ofo.1 - 3 381 c.150C>T c.(148-150)AAC>AAT p.N50N ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCGGTACAGGTTTCTCTGAG 0.512000 RYR1 6261 broad.mit.edu 37 19 38956931 38956931 + Missense_Mutation SNP G G A rs148146893 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:38956931G>A uc002oit.2 + 24 3201 c.3071G>A c.(3070-3072)CGC>CAC p.R1024H RYR1_uc002oiu.2_Missense_Mutation_p.R1024H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1024 6 X approximate repeats.|2.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTGCCCTACCGCCTGCTGGAT 0.687000 PSG4 5672 broad.mit.edu 37 19 43708213 43708213 + Silent SNP G G A rs77454946 by1000genomes TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:43708213G>A uc002ovy.2 - 2 357 c.255C>T c.(253-255)GAC>GAT p.D85D PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.D85D|PSG4_uc002ovz.2_Silent_p.D85D NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 85 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) TTCTTTGACCGTCTACTACAT 0.423000 HRC 3270 broad.mit.edu 37 19 49655303 49655303 + Missense_Mutation SNP A A G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:49655303A>G uc002pmv.2 - 4 2171 c.1984T>C c.(1984-1986)TGC>CGC p.C662R NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 662 Metal-binding (Potential). muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CAGAGATAGCAGAACTGACAG 0.682000 ZNF784 147808 broad.mit.edu 37 19 56133315 56133315 + Missense_Mutation SNP G G C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:56133315G>C uc002qll.1 - 2 788 c.774C>G c.(772-774)GAC>GAG p.D258E ZNF784_uc010etb.1_RNA NM_203374 NP_976308 Q8NCA9 ZN784_HUMAN zinc finger protein 784 258 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TGAAGGTGCGGTCGCAGAGCG 0.682000 BCL11A 53335 broad.mit.edu 37 2 60687922 60687922 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:60687922C>T uc002sae.1 - 4 2353 c.2125G>A c.(2125-2127)GGG>AGG p.G709R BCL11A_uc002sab.2_Missense_Mutation_p.G709R|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.G378R|BCL11A_uc010ypj.1_Missense_Mutation_p.G675R|BCL11A_uc002sad.1_Missense_Mutation_p.G557R|BCL11A_uc002saf.1_Missense_Mutation_p.G675R NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 709 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCCGAGATCCCTCCGTCCAGC 0.662000 T IGH@ B-CLL ZAP70 7535 broad.mit.edu 37 2 98341619 98341619 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:98341619C>T uc002syd.1 + 4 674 c.467C>T c.(466-468)ACG>ATG p.T156M ZAP70_uc010yvf.1_Missense_Mutation_p.T156M|ZAP70_uc002sye.1_Missense_Mutation_p.T46M NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 156 Interdomain A. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 ATTGCTACGACGGCCCACGAG 0.632000 EN1 2019 broad.mit.edu 37 2 119600593 119600593 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:119600593C>T uc002tlm.2 - 2 2116 c.1100G>A c.(1099-1101)GGC>GAC p.G367D NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 367 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 CAGCGCCAGGCCGTTCTTGAT 0.552000 RBMS1 5937 broad.mit.edu 37 2 161133833 161133833 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:161133833G>A uc002ubo.2 - 12 1568 c.1124C>T c.(1123-1125)ACG>ATG p.T375M RBMS1_uc002ubj.2_Missense_Mutation_p.T355M|RBMS1_uc002ubk.2_Missense_Mutation_p.T339M|RBMS1_uc002ubl.2_Missense_Mutation_p.T370M|RBMS1_uc002ubn.2_Missense_Mutation_p.T372M|RBMS1_uc002ubi.3_Missense_Mutation_p.T388M|RBMS1_uc002ubm.2_Missense_Mutation_p.T358M|RBMS1_uc002ubp.2_Missense_Mutation_p.T391M NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 375 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 AACCGCTGTCGTCTGCATATG 0.433000 GALNT3 2591 broad.mit.edu 37 2 166618440 166618440 + Missense_Mutation SNP T T A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:166618440T>A uc010fph.1 - 4 1200 c.813A>T c.(811-813)GAA>GAT p.E271D GALNT3_uc010fpi.1_Missense_Mutation_p.E271D NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 271 Catalytic subdomain A.|Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 ATGTGAGCGTTTCAGCTGTTG 0.363000 SLC39A10 57181 broad.mit.edu 37 2 196573489 196573489 + Missense_Mutation SNP T T G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:196573489T>G uc002utg.3 + 5 1710 c.1496T>G c.(1495-1497)CTT>CGT p.L499R SLC39A10_uc002uth.3_Missense_Mutation_p.L499R|SLC39A10_uc010zgp.1_Missense_Mutation_p.L49R NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 499 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) TTGAAAGGACTTGTTGCTCTA 0.348000 RFTN2 130132 broad.mit.edu 37 2 198540173 198540173 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:198540173C>T uc002uuo.3 - 1 412 c.10G>A c.(10-12)GGA>AGA p.G4R NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 4 plasma membrane 0 TTTCTAAGTCCGCACCCCATG 0.418000 RNF25 64320 broad.mit.edu 37 2 219529554 219529554 + Missense_Mutation SNP C C G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr2:219529554C>G uc002vit.2 - 9 797 c.709G>C c.(709-711)GAA>CAA p.E237Q RNF25_uc010fvw.2_Missense_Mutation_p.E125Q NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 237 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) CGCTTGCGTTCTTCTTGCTGG 0.552000 SCRT2 85508 broad.mit.edu 37 20 644735 644735 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr20:644735C>T uc002wec.2 - 2 1082 c.504G>A c.(502-504)TCG>TCA p.S168S SRXN1_uc002web.2_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN scratch 2 protein 168 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCTCAGGTTCGACGACGTGG 0.517000 XKR7 343702 broad.mit.edu 37 20 30584971 30584971 + Missense_Mutation SNP G G A rs147437006 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr20:30584971G>A uc002wxe.2 + 3 1625 c.1451G>A c.(1450-1452)CGG>CAG p.R484Q NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 484 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGTGCTGAGCGGGATGGGGCC 0.692000 ZNF295 49854 broad.mit.edu 37 21 43411786 43411786 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr21:43411786C>T uc002zab.3 - 3 2633 c.2419G>A c.(2419-2421)GAA>AAA p.E807K ZNF295_uc002yzz.3_Missense_Mutation_p.E606K|ZNF295_uc002yzy.3_Missense_Mutation_p.E807K|ZNF295_uc002zaa.3_Missense_Mutation_p.E807K NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 807 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GAAAAGTTTTCGGTGGGTGCC 0.517000 CCT8L2 150160 broad.mit.edu 37 22 17071982 17071982 + Missense_Mutation SNP T T G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr22:17071982T>G uc002zlp.1 - 1 1719 c.1459A>C c.(1459-1461)AAT>CAT p.N487H NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 487 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGGCCACATTTATTATCCCT 0.512000 THOC5 8563 broad.mit.edu 37 22 29924124 29924124 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr22:29924124G>A uc003afr.2 - 12 1344 c.1009C>T c.(1009-1011)CGC>TGC p.R337C THOC5_uc003afq.2_Translation_Start_Site|THOC5_uc003afs.2_Missense_Mutation_p.R337C|THOC5_uc003aft.2_Missense_Mutation_p.R337C|THOC5_uc003afu.2_Missense_Mutation_p.R337C|THOC5_uc010gvo.2_Missense_Mutation_p.R81C NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 337 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 ATCTCCTTGCGTTTGTCGTCC 0.527000 CACNG2 10369 broad.mit.edu 37 22 36962410 36962410 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr22:36962410G>A uc003aps.1 - 3 708 c.426C>T c.(424-426)TTC>TTT p.F142F NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 142 Helical; (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 CTGCAGACACGAAGAAGATGC 0.577000 SELO 83642 broad.mit.edu 37 22 50648639 50648639 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr22:50648639C>T uc011arr.1 + 4 1027 c.969C>T c.(967-969)GCC>GCT p.A323A SELO_uc010hap.2_Silent_p.A134A|SELO_uc003bjy.2_Silent_p.A3A|SELO_uc003bjz.2_Silent_p.A3A NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 323 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GGATGGTGGCCGAGTGGCAGT 0.657000 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF385D 79750 broad.mit.edu 37 3 21552505 21552505 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr3:21552505G>A uc003cce.2 - 4 695 c.287C>T c.(286-288)GCG>GTG p.A96V ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 96 Matrin-type 1. nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GTAGTGGGCCGCAGCCTGGCT 0.443000 MYD88 4615 broad.mit.edu 37 3 38181925 38181925 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr3:38181925C>T uc003chx.2 + 3 733 c.549C>T c.(547-549)AGC>AGT p.S183S MYD88_uc011ayh.1_3'UTR|MYD88_uc011ayi.1_Silent_p.S183S|MYD88_uc011ayj.1_Intron|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Silent_p.S138S NM_002468 NP_002459 Q99836 MYD88_HUMAN myeloid differentiation primary response gene 170 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(93)|breast(1) 94 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATTGCCCCAGCGACATCCAGT 0.562000 Mis ABC-DLBCL TRAK1 22906 broad.mit.edu 37 3 42244190 42244190 + Missense_Mutation SNP T T C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr3:42244190T>C uc003cky.2 + 13 1906 c.1690T>C c.(1690-1692)TTC>CTC p.F564L TRAK1_uc011azh.1_Missense_Mutation_p.F564L|TRAK1_uc011azi.1_Missense_Mutation_p.F564L|TRAK1_uc003ckz.3_Missense_Mutation_p.F490L|TRAK1_uc011azj.1_Missense_Mutation_p.F490L|TRAK1_uc003cla.2_Missense_Mutation_p.F506L NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 564 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TGGCATGTCCTTCAGCAGCCG 0.657000 CDHR4 389118 broad.mit.edu 37 3 49836305 49836305 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr3:49836305C>T uc010hkz.2 - 4 458 c.449G>A c.(448-450)CGG>CAG p.R150Q CDHR4_uc003cxp.2_Silent_p.S175S|CDHR4_uc011bcw.1_Missense_Mutation_p.R150Q NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN cadherin-like 29 precursor 150 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 AGTGTACAGCCGAGCCCCAGG 0.632000 DNAH1 25981 broad.mit.edu 37 3 52404605 52404605 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr3:52404605G>A uc011bef.1 + 40 6632 c.6371G>A c.(6370-6372)CGC>CAC p.R2124H NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2124 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCAGTGGCCGCACCAGTTTC 0.597000 HTT 3064 broad.mit.edu 37 4 3215685 3215685 + Missense_Mutation SNP G G T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr4:3215685G>T uc011bvq.1 + 51 6926 c.6781G>T c.(6781-6783)GCC>TCC p.A2261S NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2259 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTCCCTTTAGGCCCTGTCCTG 0.592000 STK32B 55351 broad.mit.edu 37 4 5170125 5170125 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr4:5170125C>T uc003gih.1 + 3 272 c.208C>T c.(208-210)CGG>TGG p.R70W STK32B_uc010ida.1_Missense_Mutation_p.R23W NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 70 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GAATGTTTTCCGGGAGCTGCA 0.537000 PCDH18 54510 broad.mit.edu 37 4 138452081 138452081 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr4:138452081C>T uc003ihe.3 - 1 1549 c.1162G>A c.(1162-1164)GAT>AAT p.D388N PCDH18_uc003ihf.3_Missense_Mutation_p.D381N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.D168N|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 388 Cadherin 4.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AGCCCAGAATCCTTGTCCTGA 0.348000 DMXL1 1657 broad.mit.edu 37 5 118500266 118500266 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:118500266G>A uc003ksd.2 + 20 4948 c.4767G>A c.(4765-4767)ATG>ATA p.M1589I DMXL1_uc010jcl.1_Missense_Mutation_p.M1589I NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1589 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGCTGAACATGTTGCCAGCCA 0.438000 PCDHA2 56146 broad.mit.edu 37 5 140174841 140174841 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:140174841C>T uc003lhd.2 + 1 398 c.292C>T c.(292-294)CGG>TGG p.R98W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R98W|PCDHA2_uc011czy.1_Missense_Mutation_p.R98W NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 98 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTGCGGGCGGAGCGCGGA 0.572000 PCDHA4 56144 broad.mit.edu 37 5 140188818 140188818 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:140188818G>A uc003lhi.2 + 1 2147 c.2046G>A c.(2044-2046)GCG>GCA p.A682A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A682A|PCDHA4_uc011daa.1_Silent_p.A682A NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 682 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCACGGGCGTTGGTGGGCG 0.637000 PCDHB15 56121 broad.mit.edu 37 5 140626263 140626263 + Nonsense_Mutation SNP C C T rs139626656 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:140626263C>T uc003lje.2 + 1 1117 c.1117C>T c.(1117-1119)CGA>TGA p.R373* NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 373 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATTAGAGACCGAGACTCTGG 0.413000 SH3RF2 153769 broad.mit.edu 37 5 145439671 145439671 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:145439671C>T uc003lnt.2 + 9 2036 c.1798C>T c.(1798-1800)CTC>TTC p.L600F SH3RF2_uc011dbl.1_Missense_Mutation_p.L600F|SH3RF2_uc011dbm.1_Missense_Mutation_p.L85F|SH3RF2_uc003lnu.2_Missense_Mutation_p.L91F|SH3RF2_uc011dbn.1_Missense_Mutation_p.L91F|SH3RF2_uc011dbo.1_Missense_Mutation_p.L57F NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 600 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCAGCTCCCTCATTATGGA 0.607000 NDST1 3340 broad.mit.edu 37 5 149901309 149901309 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:149901309G>A uc003lsk.3 + 2 995 c.493G>A c.(493-495)GGC>AGC p.G165S NDST1_uc011dcj.1_Missense_Mutation_p.G165S|NDST1_uc003lsl.2_Missense_Mutation_p.G165S NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 165 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTACGGCGTGGGCATCATTGG 0.478000 CYFIP2 26999 broad.mit.edu 37 5 156766134 156766134 + Missense_Mutation SNP A A G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:156766134A>G uc003lwq.2 + 24 2593 c.2455A>G c.(2455-2457)AGC>GGC p.S819G CYFIP2_uc011ddn.1_Missense_Mutation_p.S793G|CYFIP2_uc011ddo.1_Missense_Mutation_p.S623G|CYFIP2_uc003lwr.2_Missense_Mutation_p.S819G|CYFIP2_uc003lws.2_Missense_Mutation_p.S819G|CYFIP2_uc003lwt.2_Missense_Mutation_p.S722G|CYFIP2_uc011ddp.1_Missense_Mutation_p.S553G NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 844 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) GACGCTGGACAGCTTCGATGC 0.552000 EBF1 1879 broad.mit.edu 37 5 158250237 158250237 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr5:158250237C>T uc010jip.2 - 8 1027 c.725G>A c.(724-726)CGG>CAG p.R242Q EBF1_uc011ddw.1_Missense_Mutation_p.R109Q|EBF1_uc011ddx.1_Missense_Mutation_p.R242Q|EBF1_uc003lxl.3_Missense_Mutation_p.R219Q NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 242 multicellular organismal development nucleus DNA binding|metal ion binding p.R242Q(1) HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGAGCCCTCCGCCCATGCTT 0.488000 T HMGA2 lipoma F13A1 2162 broad.mit.edu 37 6 6167728 6167728 + Missense_Mutation SNP T T G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr6:6167728T>G uc003mwv.2 - 13 1994 c.1871A>C c.(1870-1872)AAG>ACG p.K624T F13A1_uc011dib.1_Missense_Mutation_p.K561T NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 624 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CACGGTGGACTTTTGCTTGGC 0.507000 SLC17A3 10786 broad.mit.edu 37 6 25850092 25850092 + Silent SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr6:25850092G>A uc003nfi.3 - 9 1088 c.978C>T c.(976-978)TGC>TGT p.C326C SLC17A3_uc003nfk.3_Silent_p.C404C NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 326 Helical; (Potential). glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 TGCTTAATCCGCAAGAGAGCG 0.433000 OR10C1 442194 broad.mit.edu 37 6 29408592 29408592 + Missense_Mutation SNP C C T rs150247833 by1000genomes TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr6:29408592C>T uc011dlp.1 + 1 800 c.800C>T c.(799-801)CCG>CTG p.P267L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCTACGATCCGGCCACTGAC 0.567000 TREML4 285852 broad.mit.edu 37 6 41196170 41196170 + Missense_Mutation SNP C C A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr6:41196170C>A uc003oqc.2 + 1 109 c.5C>A c.(4-6)GCC>GAC p.A2D TREML4_uc003oqd.2_5'Flank NM_198153 NP_937796 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid 2 extracellular region breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) GCTGGAATGGCCTGGGGTGGG 0.602000 LAMA2 3908 broad.mit.edu 37 6 129722454 129722454 + Missense_Mutation SNP G G A rs150691000 byFrequency TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr6:129722454G>A uc003qbn.2 + 38 5636 c.5531G>A c.(5530-5532)CGT>CAT p.R1844H LAMA2_uc003qbo.2_Missense_Mutation_p.R1844H NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1844 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAAGCCAACCGTCTTGCAGAT 0.403000 SYNE1 23345 broad.mit.edu 37 6 152650951 152650951 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr6:152650951C>T uc010kiw.2 - 78 15471 c.14869G>A c.(14869-14871)GAG>AAG p.E4957K SYNE1_uc003qot.3_Missense_Mutation_p.E4886K|SYNE1_uc003qou.3_Missense_Mutation_p.E4957K|SYNE1_uc010kiz.2_Missense_Mutation_p.E712K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4957 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAAATCAGCTCCTTGGCCTTT 0.478000 HNSCC(10;0.0054) WBSCR17 64409 broad.mit.edu 37 7 70885982 70885982 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr7:70885982G>A uc003tvy.2 + 5 853 c.853G>A c.(853-855)GTG>ATG p.V285M WBSCR17_uc003tvz.2_Translation_Start_Site NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 285 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CAACTTTGAGGTGCAGCGGTA 0.567000 SEMA3C 10512 broad.mit.edu 37 7 80374379 80374379 + Missense_Mutation SNP G G T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr7:80374379G>T uc003uhj.2 - 18 2649 c.2087C>A c.(2086-2088)GCA>GAA p.A696E SEMA3C_uc011kgw.1_Missense_Mutation_p.A714E NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 696 immune response|response to drug membrane receptor activity ovary(1) 1 GTGGCTGAATGCCCCCATGAT 0.502000 CLCN1 1180 broad.mit.edu 37 7 143013337 143013337 + Missense_Mutation SNP G G T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr7:143013337G>T uc003wcr.1 + 1 119 c.32G>T c.(31-33)GGT>GTT p.G11V CLCN1_uc011ktc.1_5'UTR NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 11 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) CAGCGTGGGGGTGAACAAAGC 0.627000 CRYGN 155051 broad.mit.edu 37 7 151133409 151133409 + Silent SNP G G A rs146240466 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr7:151133409G>A uc003wke.2 - 3 369 c.273C>T c.(271-273)CAC>CAT p.H91H CRYGN_uc003wkf.2_Intron|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_RNA NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN gammaN-crystallin 91 0 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AATGTTCTCCGTGCTCCAAGA 0.547000 DLGAP2 9228 broad.mit.edu 37 8 1645408 1645408 + Silent SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr8:1645408C>T uc003wpl.2 + 11 2749 c.2652C>T c.(2650-2652)GAC>GAT p.D884D DLGAP2_uc003wpm.2_Silent_p.D870D NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 963 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGAAGTTCGACGAGCTGCAGC 0.632000 DCAF4L2 138009 broad.mit.edu 37 8 88886059 88886059 + Silent SNP G G A rs142584363 byFrequency TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr8:88886059G>A uc003ydz.2 - 1 238 c.141C>T c.(139-141)CGC>CGT p.R47R NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 47 ovary(1) 1 CACGCAGCTCGCGAGCTATAC 0.498000 ZNF707 286075 broad.mit.edu 37 8 144776021 144776021 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr8:144776021C>T uc003yze.3 + 7 752 c.437C>T c.(436-438)ACG>ATG p.T146M ZNF707_uc010mfh.2_Missense_Mutation_p.T146M|ZNF707_uc010mfi.2_Missense_Mutation_p.T146M|ZNF707_uc003yzf.3_Missense_Mutation_p.T146M|ZNF707_uc003yzh.3_Missense_Mutation_p.T73M|ZNF707_uc011lkq.1_RNA NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCAAGCCCACGGCTTTCCCG 0.647000 NPR2 4882 broad.mit.edu 37 9 35799621 35799621 + Silent SNP T T C TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr9:35799621T>C uc003zyd.2 + 3 880 c.880T>C c.(880-882)TTG>CTG p.L294L NPR2_uc010mlb.2_Silent_p.L294L NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 294 Extracellular (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ACAGACTGTATTGGTGATCAC 0.483000 SEMA4D 10507 broad.mit.edu 37 9 92002361 92002361 + Missense_Mutation SNP C C T TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr9:92002361C>T uc004aqo.1 - 14 1842 c.1270G>A c.(1270-1272)GTG>ATG p.V424M SEMA4D_uc011ltm.1_Missense_Mutation_p.V424M|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.V422M NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 424 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 CGGTCCACCACGATCTGGGTG 0.532000 VCX 26609 broad.mit.edu 37 X 7811739 7811739 + Silent SNP C C T rs151212725 TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chrX:7811739C>T uc004crz.2 + 3 522 c.303C>T c.(301-303)CAC>CAT p.H101H NM_013452 NP_038480 Q9H320 VCX1_HUMAN variable charge, X chromosome 101 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding 0 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GGACCCAGCACGACCCCCTGA 0.682000 ACRC 93953 broad.mit.edu 37 X 70823670 70823670 + Missense_Mutation SNP C C A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chrX:70823670C>A uc004eae.2 + 8 1044 c.543C>A c.(541-543)GAC>GAA p.D181E BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 181 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) CTCCCGACGACAATAGTGATG 0.498000 RGAG4 340526 broad.mit.edu 37 X 71349770 71349770 + Missense_Mutation SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chrX:71349770G>A uc010nlh.1 - 1 1982 c.1621C>T c.(1621-1623)CGC>TGC p.R541C NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 541 ovary(2)|skin(1) 3 Renal(35;0.156) CGAACTTGGCGTTGTCCTAAA 0.597000 IL9R 3581 broad.mit.edu 37 X 155227302 155227302 + Translation_Start_Site SNP G G A TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chrX:155227302G>A uc004fnv.1 + 1 57 c.-122G>A c.(-124--120)TCGTG>TCATG IL9R_uc010nvn.2_Translation_Start_Site|IL9R_uc004fnu.1_Translation_Start_Site NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGAACCTGTCGTGCAAAGCTC 0.527000 LAIR1 3903 broad.mit.edu 37 19 54868000 54868001 + Frame_Shift_Ins INS - - G TCGA-HU-A4H6-01A-11D-A25D-08 TCGA-HU-A4H6-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ea56632-805f-4c0e-a396-ed3c34ae3628 13caa5d8-ddfe-43eb-91b6-cf308ef7c28f g.chr19:54867999_54868000T>TG uc002qfk.1 - 6 901_902 c.591_592A>CA c.(589-594)cccagafs p.P197fs LAIR1_uc002qfl.1_Frame_Shift_Ins_p.P180fs|LAIR1_uc002qfm.1_Frame_Shift_Ins_p.P196fs|LAIR1_uc002qfn.1_Frame_Shift_Ins_p.P179fs|LAIR1_uc010yex.2_Frame_Shift_Ins_p.P190fs|LAIR1_uc002qfo.3_Frame_Shift_Ins_p.P179fs NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 197 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCCTTGCTTCTGGGGGGCCCTA 0.634