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 NBPF9 400818 broad.mit.edu 37 1 144823878 144823878 + Missense_Mutation SNP A A C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr1:144823878A>C uc009wig.1 + 17 1995 c.1919A>C c.(1918-1920)TAT>TCT p.Y640S NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.Y441S|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y300S NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 640 NBPF 4. cytoplasm 0 TATAGATGTTATTCAACTCCT 0.483 NA 3 75 0 0 0 0 OR14I1 401994 broad.mit.edu 37 1 248844912 248844912 + Nonsense_Mutation SNP G G A TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr1:248844912G>A uc001ieu.1 - 1 694 c.694C>T c.(694-696)CGA>TGA p.R232* NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTTTTGCTCGACTCTGTCCT 0.493 NA 5 78 0 0 0 0 ANK3 288 broad.mit.edu 37 10 61835630 61835630 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr10:61835630A>G uc001jky.2 - 37 5201 c.5009T>C c.(5008-5010)CTA>CCA p.L1670P ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1670 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGAAGATATTAGCGGTGCTGC 0.388 NA 3 84 0 0 0 0 SERPING1 710 broad.mit.edu 37 11 57382046 57382046 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr11:57382046A>G uc001nkp.1 + 8 1686 c.1495A>G c.(1495-1497)AGG>GGG p.R499G SERPING1_uc001nkq.1_Missense_Mutation_p.R462G|SERPING1_uc010rju.1_Missense_Mutation_p.R447G|SERPING1_uc010rjv.1_Missense_Mutation_p.R504G|SERPING1_uc001nkr.1_Missense_Mutation_p.R499G|SERPING1_uc009ymi.1_Missense_Mutation_p.R508G|SERPING1_uc009ymj.1_3'UTR|SERPING1_uc001nks.1_Missense_Mutation_p.R190G NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 499 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 ATATGACCCCAGGGCCTGAGA 0.622 NA Hereditary_Angioedema 3 31 0 0 0 0 GPR109B 8843 broad.mit.edu 37 12 123200861 123200861 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr12:123200861A>G uc001ucy.3 - 1 579 c.424T>C c.(424-426)TGG>CGG p.W142R GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 142 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) GCTGCTGTCCAATTGGAGATC 0.542 NA 3 77 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29162940 29162940 + Missense_Mutation SNP C C G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr17:29162940C>G uc002hfs.1 + 2 2187 c.1841C>G c.(1840-1842)TCT>TGT p.S614C ATAD5_uc002hft.1_Missense_Mutation_p.S511C NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 614 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGTATTGATTCTGACGATGTA 0.393 NA 6 64 0 0 0 0 RANBP2 5903 broad.mit.edu 37 2 109352601 109352601 + Silent SNP T T C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr2:109352601T>C uc002tem.3 + 6 804 c.678T>C c.(676-678)AGT>AGC p.S226S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 226 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTGATAAAAGTGACTGGCGAG 0.368 NA 7 269 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40727119 40727119 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr20:40727119A>G uc002xkg.2 - 27 3972 c.3788T>C c.(3787-3789)CTG>CCG p.L1263P PTPRT_uc010ggj.2_Missense_Mutation_p.L1282P|PTPRT_uc010ggi.2_Missense_Mutation_p.L466P NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1263 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.K1263K(1) skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATCGAACACCAGCCTCCAGAA 0.592 NA 3 67 0 0 0 0 ECE2 9718 broad.mit.edu 37 3 184009925 184009925 + Missense_Mutation SNP C C T TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr3:184009925C>T uc003fni.3 + 19 2589 c.2551C>T c.(2551-2553)CGC>TGC p.R851C ECE2_uc003fnl.3_Missense_Mutation_p.R779C|ECE2_uc003fnm.3_Missense_Mutation_p.R733C|ECE2_uc003fnk.3_Missense_Mutation_p.R704C NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 851 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCCCGCTTCCGCGTGCTGGG 0.677 NA 8 61 0 0 0 0 TEX15 56154 broad.mit.edu 37 8 30701885 30701885 + Missense_Mutation SNP T T A TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr8:30701885T>A uc003xil.2 - 1 4649 c.4649A>T c.(4648-4650)GAC>GTC p.D1550V NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1550 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGACTGCGAGTCTTTACTAAC 0.383 NA 8 126 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144946714 144946714 + Silent SNP G G A TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr8:144946714G>A uc003zaa.1 - 1 721 c.708C>T c.(706-708)CGC>CGT p.R236R NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 236 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCCCATGGAGCGGAAGGTGA 0.682 NA 3 15 0 0 0 0 MORC4 79710 broad.mit.edu 37 X 106186359 106186359 + Missense_Mutation SNP G G C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chrX:106186359G>C uc004emu.3 - 15 2005 c.1762C>G c.(1762-1764)CTA>GTA p.L588V MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.L588V|MORC4_uc004emw.3_Missense_Mutation_p.L336V NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 588 ATP binding|zinc ion binding ovary(1) 1 GAATAATCTAGAGAAGGTGTT 0.453 NA 8 154 0 0 0 0 C8orf58 541565 broad.mit.edu 37 8 22459568 22459570 + In_Frame_Del DEL GCT GCT - TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr8:22459568_22459570delGCT uc003xce.2 + 4 853_855 c.741_743delGCT c.(739-744)GAGCTG>GAG p.L249del C8orf58_uc011kzl.1_In_Frame_Del_p.L249del|C8orf58_uc003xcf.2_In_Frame_Del_p.L249del|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 249 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGCCATGGGAGCTGCTAAGCCAG 0.64 NA 6 5 --- --- --- --- NA NA NA NA