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 CLCNKA 1187 broad.mit.edu 37 1 16358754 16358754 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:16358754G>A uc001axu.2 + 17 1893 c.1813G>A c.(1813-1815)GCT>ACT p.A605T CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A605T|CLCNKA_uc010obw.1_Missense_Mutation_p.A562T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 605 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(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) Niflumic Acid(DB04552) GGCCCTCCAGGCTGAGCCTCC 0.652 NA 17 15 0 0 0 0 MAP3K6 9064 broad.mit.edu 37 1 27686819 27686819 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:27686819G>A uc001bny.1 - 16 2344 c.2095C>T c.(2095-2097)CGC>TGC p.R699C MAP3K6_uc009vsw.1_Missense_Mutation_p.R691C|MAP3K6_uc001bnz.1_Missense_Mutation_p.R222C NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 699 Protein kinase. activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGGCGCAGGCGTCTGTGAAGA 0.592 NA 9 40 0 0 0 0 ZBTB8OS 339487 broad.mit.edu 37 1 33116074 33116074 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:33116074C>T uc001bvp.2 - 1 112 c.93G>A c.(91-93)GCG>GCA p.A31A ZBTB8OS_uc001bvo.1_RNA|ZBTB8OS_uc001bvq.2_Silent_p.A19A|RBBP4_uc001bvr.2_5'Flank|RBBP4_uc001bvs.2_5'Flank|RBBP4_uc010ohj.1_5'Flank|RBBP4_uc010ohk.1_5'Flank NM_178547 NP_848642 Q8IWT0 ARCH_HUMAN zinc finger and BTB domain containing 8 opposite 19 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGCCTTGATCGCCTTCTGTT 0.483 NA 39 74 0 0 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452858 35452858 + Silent SNP T T C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:35452858T>C uc001byh.2 - 16 4053 c.3825A>G c.(3823-3825)TTA>TTG p.L1275L uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Silent_p.L1178L NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 1275 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AAAAGGGTAATAAAAATTTCA 0.368 NA 11 40 0 0 0 0 C1orf175 374977 broad.mit.edu 37 1 55145695 55145695 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:55145695C>T uc010ooe.1 + 13 2682 c.2358C>T c.(2356-2358)CTC>CTT p.L786L C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L354L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L304L|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Silent_p.L786L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 786 Helical; (Potential). integral to membrane binding 0 TGGCCCTGCTCATGTGCCCCC 0.647 NA 60 68 0 0 0 0 SLC35D1 23169 broad.mit.edu 37 1 67516168 67516168 + Silent SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:67516168G>A uc001ddk.2 - 5 796 c.412C>T c.(412-414)CTG>TTG p.L138L SLC35D1_uc010oph.1_Silent_p.L59L NM_015139 NP_055954 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-glucuronic 138 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity 0 Lorazepam(DB00186) AACCTTCTCAGAACTGTAAAC 0.294 NA 10 24 0 0 0 0 ZNF644 84146 broad.mit.edu 37 1 91406595 91406595 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:91406595C>T uc001dnw.2 - 3 458 c.316G>A c.(316-318)GAA>AAA p.E106K ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.E106K NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATAAAGTTTTCACTAGAAACA 0.408 NA 10 45 0 0 0 0 LIX1L 128077 broad.mit.edu 37 1 145477381 145477381 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:145477381G>A uc001enr.2 + 1 297 c.223G>A c.(223-225)GCA>ACA p.A75T NBPF10_uc001emp.3_Intron NM_153713 NP_714924 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse) like 75 ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGGCAGCCCGGCAGTGCTGCG 0.562 NA 3 4 0 0 0 0 NUP210L 91181 broad.mit.edu 37 1 154062033 154062033 + Missense_Mutation SNP A A C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:154062033A>C uc001fdw.2 - 16 2297 c.2225T>G c.(2224-2226)CTG>CGG p.L742R NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.L742R NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 742 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACTAGGGTTCAGGACACCTGG 0.473 NA 15 78 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158595954 158595954 + Silent SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:158595954G>T uc001fst.1 - 42 6091 c.5892C>A c.(5890-5892)CTC>CTA p.L1964L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1964 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCAGAAGAGTGAGGAAGTCAC 0.393 NA 4 27 1.24e-05 2.73e-05 1 0 ZNF648 127665 broad.mit.edu 37 1 182026706 182026706 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:182026706G>A uc001goz.2 - 2 648 c.440C>T c.(439-441)GCG>GTG p.A147V NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATCATCACCCGCAGGTAGTCG 0.562 NA 10 50 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186057074 186057074 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:186057074C>G uc001grq.1 + 61 9603 c.9374C>G c.(9373-9375)ACA>AGA p.T3125R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3125 Ig-like C2-type 29. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTATCTGACACAGGCCAGTAT 0.348 NA 6 52 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196928195 196928195 + Missense_Mutation SNP T T G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:196928195T>G uc001gtq.1 + 5 875 c.798T>G c.(796-798)AGT>AGG p.S266R CFHR2_uc001gtr.1_Missense_Mutation_p.S142R NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 266 Sushi 4. extracellular region skin(2)|ovary(1) 3 TATATCCCAGTTGTGAAGAAA 0.303 NA 12 33 0 0 0 0 NAV1 89796 broad.mit.edu 37 1 201759817 201759817 + Missense_Mutation SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:201759817C>A uc001gwu.2 + 13 3591 c.3244C>A c.(3244-3246)CAA>AAA p.Q1082K NAV1_uc001gwv.1_Missense_Mutation_p.Q582K|NAV1_uc001gww.1_Missense_Mutation_p.Q683K|NAV1_uc001gwx.2_Missense_Mutation_p.Q691K|NAV1_uc001gwy.1_Missense_Mutation_p.Q455K NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1082 Potential. cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CCTTTTACAGCAAATCCGGAA 0.448 NA 18 89 1.68e-08 3.88e-08 1 0 PPFIA4 8497 broad.mit.edu 37 1 203036878 203036878 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:203036878G>A uc001gyz.2 + 13 2181 c.1588G>A c.(1588-1590)GAG>AAG p.E530K PPFIA4_uc009xaj.2_Missense_Mutation_p.E1161K|PPFIA4_uc010pqf.1_Missense_Mutation_p.E743K|PPFIA4_uc001gza.2_Missense_Mutation_p.E521K|PPFIA4_uc001gzb.1_Missense_Mutation_p.E216K|PPFIA4_uc001gzc.1_Missense_Mutation_p.E72K NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 530 Potential. cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 TGACCGGAAGGAGCTGGAGAA 0.582 NA 26 54 0 0 0 0 ZP4 57829 broad.mit.edu 37 1 238048742 238048742 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:238048742G>A uc001hym.2 - 8 1109 c.1109C>T c.(1108-1110)ACA>ATA p.T370I LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 370 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGTGCTGGGTGTTGCCCAACA 0.537 NA 17 56 0 0 0 0 ZNF669 79862 broad.mit.edu 37 1 247264162 247264162 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:247264162C>G uc001ice.2 - 4 1082 c.909G>C c.(907-909)GAG>GAC p.E303D ZNF669_uc001icf.2_Missense_Mutation_p.E217D NM_024804 NP_079080 Q96BR6 ZN669_HUMAN zinc finger protein 669 isoform 1 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CGTAGGGTTTCTCTCCAGTGT 0.383 NA 7 49 0 0 0 0 OR2T3 343173 broad.mit.edu 37 1 248637569 248637569 + Silent SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:248637569G>A uc001iel.1 + 1 918 c.918G>A c.(916-918)CTG>CTA p.L306L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 306 Cytoplasmic (Potential). L -> M (in Ref. 3; BAC05839). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGGGCTCTGAGGAGCATGA 0.478 NA 44 349 0 0 0 0 ZNF692 55657 broad.mit.edu 37 1 249151487 249151487 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:249151487G>C uc001ifc.1 - 4 588 c.421C>G c.(421-423)CAT>GAT p.H141D ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.H141D|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.H141D|ZNF692_uc010pzr.1_Missense_Mutation_p.H146D NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CGAGTAGTATGTGGAAGGGAG 0.567 NA 42 53 0 0 0 0 ZNF248 57209 broad.mit.edu 37 10 38120569 38120569 + Missense_Mutation SNP T T C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:38120569T>C uc001izd.1 - 6 2213 c.1714A>G c.(1714-1716)AGG>GGG p.R572G ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R572G NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCTTTCACCCTTGTGTGAATT 0.423 NA 10 38 0 0 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088343 43088343 + Silent SNP T T C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:43088343T>C uc001jaf.1 - 5 2170 c.2055A>G c.(2053-2055)AGA>AGG p.R685R ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.R573R|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 685 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCGTGTGCTTTCTCTCATGTA 0.403 NA 26 62 0 0 0 0 KIAA0913 23053 broad.mit.edu 37 10 75556724 75556724 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:75556724G>T uc009xrl.2 + 16 3243 c.3211G>T c.(3211-3213)GGG>TGG p.G1071W KIAA0913_uc001jve.2_Missense_Mutation_p.G1076W|KIAA0913_uc001jvf.2_Missense_Mutation_p.G1071W|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.G506W|KIAA0913_uc010qkr.1_Missense_Mutation_p.G494W|KIAA0913_uc001jvj.2_Missense_Mutation_p.G494W|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1071 zinc ion binding breast(1) 1 Prostate(51;0.0112) GAGTGTGGCAGGGGCTGGGCC 0.647 NA 11 37 0.000673444 0.00144126 1 0 SFTPA1 653509 broad.mit.edu 37 10 81373011 81373011 + Missense_Mutation SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:81373011A>G uc001kap.2 + 5 480 c.359A>G c.(358-360)CAG>CGG p.Q120R SFTPA1_uc001kaq.2_Missense_Mutation_p.Q120R|SFTPA1_uc009xry.2_Missense_Mutation_p.Q135R|SFTPA1_uc001kar.2_Missense_Mutation_p.Q120R|SFTPA1_uc010qlt.1_Missense_Mutation_p.Q61R|SFTPA1_uc009xrz.2_Missense_Mutation_p.Q50R|SFTPA1_uc009xsa.2_Missense_Mutation_p.Q120R|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 120 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CAAATCCTGCAGACAAGGGGA 0.547 NA 65 104 0 0 0 0 TNKS2 80351 broad.mit.edu 37 10 93582061 93582061 + Missense_Mutation SNP T T A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:93582061T>A uc001khp.2 + 7 1034 c.737T>A c.(736-738)GTA>GAA p.V246E NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 246 ANK 5. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AGTGATCTGGTACCATTACAC 0.328 NA 46 43 0 0 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119799785 119799785 + Silent SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:119799785A>G uc001ldj.1 - 2 1085 c.645T>C c.(643-645)TTT>TTC p.F215F RAB11FIP2_uc009xyz.1_Silent_p.F215F NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 215 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) GACCCAAGAGAAAAGGCTTTT 0.433 NA 22 67 0 0 0 0 DMBT1 1755 broad.mit.edu 37 10 124348656 124348656 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr10:124348656C>T uc001lgk.1 + 17 2086 c.1980C>T c.(1978-1980)GGC>GGT p.G660G DMBT1_uc001lgl.1_Silent_p.G650G|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.G660G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 660 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGGTCAGGGCTCAGGACCCA 0.602 NA 58 158 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1263375 1263375 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:1263375C>T uc009ycr.1 + 47 7470 c.7344C>T c.(7342-7344)ACC>ACT p.T2448T MUC5B_uc001ltb.2_Silent_p.T1758T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1755 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCTGTCCACCTCTCAGGCCG 0.642 NA 9 23 0 0 0 0 SCUBE2 57758 broad.mit.edu 37 11 9080855 9080855 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:9080855C>G uc001mhh.1 - 9 1165 c.1085G>C c.(1084-1086)TGC>TCC p.C362S SCUBE2_uc001mhi.1_Missense_Mutation_p.C362S|SCUBE2_uc001mhj.1_Missense_Mutation_p.C362S NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 362 EGF-like 7; calcium-binding (Potential). extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CATACCTTGGCAAGACTTCTC 0.483 NA 8 38 0 0 0 0 CHST1 8534 broad.mit.edu 37 11 45671418 45671418 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:45671418G>C uc001mys.1 - 4 1727 c.1056C>G c.(1054-1056)AAC>AAG p.N352K NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 352 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TGGCCGCCGAGTTTCGCACGG 0.672 NA 47 42 0 0 0 0 OR8I2 120586 broad.mit.edu 37 11 55861217 55861217 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:55861217G>C uc010rix.1 + 1 434 c.434G>C c.(433-435)GGA>GCA p.G145A NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) AACTGGCTGGGAGTAATGCCA 0.433 NA 45 52 0 0 0 0 EHD1 10938 broad.mit.edu 37 11 64622855 64622855 + Missense_Mutation SNP T T C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:64622855T>C uc001obu.1 - 4 1274 c.1019A>G c.(1018-1020)CAG>CGG p.Q340R EHD1_uc001obt.1_Missense_Mutation_p.Q23R|EHD1_uc001obv.1_Missense_Mutation_p.Q340R|EHD1_uc010rnq.1_Missense_Mutation_p.Q354R NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN EH-domain containing 1 340 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding 0 CTCAATCTTCTGGTAGATCTC 0.557 NA OREG0004024 type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 72 0 0 0 0 SAPS3 55291 broad.mit.edu 37 11 68318642 68318642 + Silent SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:68318642G>T uc001onw.2 + 6 873 c.606G>T c.(604-606)TCG>TCT p.S202S SAPS3_uc010rqb.1_Silent_p.S111S|SAPS3_uc001onv.2_Silent_p.S202S|SAPS3_uc001ony.3_Silent_p.S202S|SAPS3_uc001onx.2_Silent_p.S202S|SAPS3_uc009ysh.2_Silent_p.S202S|SAPS3_uc001onu.2_Silent_p.S202S|SAPS3_uc010rqc.1_Intron NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 202 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) TTCATCCATCGCAAGAAGAAG 0.333 NA 15 50 7.93e-07 1.79e-06 1 0 P2RY2 5029 broad.mit.edu 37 11 72945507 72945507 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:72945507C>T uc001otj.2 + 3 636 c.303C>T c.(301-303)TTC>TTT p.F101F P2RY2_uc001otk.2_Silent_p.F101F|P2RY2_uc001otl.2_Silent_p.F101F NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 101 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) ACTGGCCCTTCAGCACGGTGC 0.597 NA 21 96 0 0 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800310 74800310 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:74800310G>A uc010rro.1 - 1 449 c.449C>T c.(448-450)GCA>GTA p.A150V NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGCACTGGCTGCCAAGGTAGC 0.557 NA 47 57 0 0 0 0 GAB2 9846 broad.mit.edu 37 11 77931466 77931466 + Missense_Mutation SNP C C T rs145573768 TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:77931466C>T uc001ozh.2 - 9 1786 c.1786G>A c.(1786-1788)GTT>ATT p.V596I GAB2_uc001ozg.2_Missense_Mutation_p.V558I NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 596 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) CCACTGGGAACGGGAGATGCA 0.562 NA 10 43 0 0 0 0 TYR 7299 broad.mit.edu 37 11 89018057 89018057 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr11:89018057G>C uc001pcs.2 + 4 1383 c.1301G>C c.(1300-1302)AGA>ACA p.R434T NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 434 Lumenal, melanosome (Potential). R -> I (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CCACTGTACAGAAATGGTGAT 0.403 NA Oculocutaneous_Albinism 17 44 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9307283 9307283 + Missense_Mutation SNP T T A rs140597579 byFrequency TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:9307283T>A uc001qvl.2 - 29 3732 c.3703A>T c.(3703-3705)ACC>TCC p.T1235S PZP_uc009zgl.2_Missense_Mutation_p.T1021S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GTTGCAGAGGTCAGGTCCCCT 0.557 NA 24 38 0 0 0 0 DHH 50846 broad.mit.edu 37 12 49488008 49488008 + Silent SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:49488008G>A uc001rtf.2 - 1 595 c.288C>T c.(286-288)GAC>GAT p.D96D NM_021044 NP_066382 O43323 DHH_HUMAN desert hedgehog preproprotein 96 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding lung(1)|breast(1) 2 TCATCAGGCGGTCGGCTCCAC 0.642 NA 20 40 0 0 0 0 SP7 121340 broad.mit.edu 37 12 53722831 53722831 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:53722831G>T uc001sct.2 - 2 502 c.395C>A c.(394-396)ACA>AAA p.T132K SP7_uc001scu.2_Missense_Mutation_p.T114K|SP7_uc001scv.2_Missense_Mutation_p.T132K NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATAGGGGTGTGTCATGTCCAG 0.602 NA 16 40 2.23e-06 4.99e-06 1 0 MON2 23041 broad.mit.edu 37 12 62954421 62954421 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:62954421C>T uc001sre.2 + 26 3951 c.3560C>T c.(3559-3561)ACA>ATA p.T1187I MON2_uc009zqj.2_Missense_Mutation_p.T1187I|MON2_uc010ssl.1_Missense_Mutation_p.T1115I|MON2_uc010ssm.1_Missense_Mutation_p.T1164I|MON2_uc010ssn.1_Missense_Mutation_p.T1187I|MON2_uc001srf.2_Missense_Mutation_p.T950I|MON2_uc001srg.2_Missense_Mutation_p.T62I NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1188 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AAGCCTGAGACACCACCTGTA 0.443 NA 15 32 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85623415 85623415 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:85623415G>T uc001tac.2 + 25 5054 c.4943G>T c.(4942-4944)AGA>ATA p.R1648I NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1648 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ACTAGTTCCAGAAATATGAAA 0.338 NA 9 49 1.59e-06 3.57e-06 1 0 MYBPC1 4604 broad.mit.edu 37 12 102030483 102030483 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:102030483C>T uc001tii.2 + 8 669 c.567C>T c.(565-567)GAC>GAT p.D189D MYBPC1_uc001tif.1_Silent_p.D202D|MYBPC1_uc001tig.2_Silent_p.D214D|MYBPC1_uc010svq.1_Silent_p.D176D|MYBPC1_uc001tih.2_Silent_p.D214D|MYBPC1_uc001tij.2_Silent_p.D189D|MYBPC1_uc010svr.1_Silent_p.D189D|MYBPC1_uc010svs.1_Silent_p.D189D|MYBPC1_uc010svt.1_Silent_p.D177D|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Silent_p.D163D NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 189 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GAGAACTTGACTTTAGTGGTC 0.428 NA 7 21 0 0 0 0 TMEM116 89894 broad.mit.edu 37 12 112369498 112369498 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:112369498C>G uc001ttc.1 - 13 1321 c.665G>C c.(664-666)AGA>ACA p.R222T TMEM116_uc001ttd.1_Missense_Mutation_p.R314T|TMEM116_uc001tte.1_Missense_Mutation_p.R279T|TMEM116_uc001ttf.1_Missense_Mutation_p.R222T|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_Missense_Mutation_p.R128T NM_138341 NP_612350 Q8NCL8 TM116_HUMAN transmembrane protein 116 222 integral to membrane ovary(1) 1 GCTATAGAATCTCTTCTGTGA 0.453 NA 22 64 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123019279 123019279 + Silent SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr12:123019279A>G uc001ucv.2 + 3 361 c.198A>G c.(196-198)TCA>TCG p.S66S KNTC1_uc010taf.1_Silent_p.S66S NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 66 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CCGACCAATCAGTGATATTGC 0.353 NA 3 21 0 0 0 0 GRTP1 79774 broad.mit.edu 37 13 114009696 114009696 + Nonsense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr13:114009696G>C uc001vtn.2 - 3 379 c.282C>G c.(280-282)TAC>TAG p.Y94* GRTP1_uc010tkb.1_Nonsense_Mutation_p.Y16*|GRTP1_uc010tkc.1_Nonsense_Mutation_p.Y94*|GRTP1_uc010agv.1_RNA NM_024719 NP_078995 Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 94 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GCTGGTGGTAGTAGCCGGGAT 0.672 NA 42 6 0 0 0 0 SCFD1 23256 broad.mit.edu 37 14 31139469 31139469 + Missense_Mutation SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr14:31139469A>G uc001wqm.1 + 11 887 c.863A>G c.(862-864)CAT>CGT p.H288R SCFD1_uc001wqn.1_Missense_Mutation_p.H221R|SCFD1_uc010tpg.1_Missense_Mutation_p.H229R|SCFD1_uc010tph.1_Missense_Mutation_p.H103R|SCFD1_uc010amf.1_Missense_Mutation_p.H103R|SCFD1_uc010tpi.1_Missense_Mutation_p.H196R|SCFD1_uc010amd.1_Missense_Mutation_p.H120R|SCFD1_uc010ame.1_Missense_Mutation_p.H221R NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 288 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) TAGGATTTCCATTTAAACAGG 0.338 NA 72 140 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634091 70634091 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr14:70634091C>T uc001xly.2 - 2 1803 c.1049G>A c.(1048-1050)AGC>AAC p.S350N SLC8A3_uc001xlw.2_Missense_Mutation_p.S350N|SLC8A3_uc001xlx.2_Missense_Mutation_p.S350N|SLC8A3_uc001xlz.2_Missense_Mutation_p.S350N|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 350 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAAGGCACGGCTCTTCTGTTG 0.493 NA 17 66 0 0 0 0 RIN3 79890 broad.mit.edu 37 14 93118236 93118236 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr14:93118236C>T uc001yap.2 + 6 994 c.842C>T c.(841-843)CCA>CTA p.P281L RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P206L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 281 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CGccgcccaccaccccctccc 0.308 NA 25 23 0 0 0 0 MGA 23269 broad.mit.edu 37 15 42054540 42054540 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:42054540G>C uc010ucy.1 + 22 7905 c.7724G>C c.(7723-7725)AGA>ACA p.R2575T MGA_uc010ucz.1_Missense_Mutation_p.R2366T|MGA_uc010uda.1_Missense_Mutation_p.R1191T NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2536 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATTCTTTCCAGAAAAAAAGAC 0.423 NA 9 62 0 0 0 0 SPTBN5 51332 broad.mit.edu 37 15 42166142 42166142 + Silent SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:42166142G>T uc001zos.2 - 25 5019 c.4686C>A c.(4684-4686)ATC>ATA p.I1562I NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1597 Spectrin 12. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACTGCTCCACGATGTGTTGGG 0.647 NA 22 24 3.62e-10 8.55e-10 1 0 DMXL2 23312 broad.mit.edu 37 15 51773152 51773152 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:51773152G>T uc002abf.2 - 24 6376 c.6151C>A c.(6151-6153)CTT>ATT p.L2051I DMXL2_uc002abd.2_Missense_Mutation_p.L121I|DMXL2_uc010ufy.1_Missense_Mutation_p.L2051I|DMXL2_uc010bfa.2_Missense_Mutation_p.L1415I NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2051 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TCAGTCATAAGGATCTTTAAA 0.363 NA 5 108 0.00116845 0.00249268 1 0 TMOD2 29767 broad.mit.edu 37 15 52058689 52058689 + Missense_Mutation SNP A A T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:52058689A>T uc002abk.2 + 2 272 c.51A>T c.(49-51)GAA>GAT p.E17D TMOD2_uc002abl.3_Missense_Mutation_p.E17D|TMOD2_uc010bfb.2_Translation_Start_Site NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 17 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) ACATTGATGAAGATGAGCTTC 0.423 NA 20 26 0 0 0 0 MYO5A 4644 broad.mit.edu 37 15 52697571 52697571 + Missense_Mutation SNP T T A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:52697571T>A uc002aby.2 - 9 1210 c.966A>T c.(964-966)CAA>CAT p.Q322H MYO5A_uc002abx.3_Missense_Mutation_p.Q322H|MYO5A_uc010uge.1_Missense_Mutation_p.Q191H NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 322 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AAATTCCCATTTGATGAGATT 0.363 NA 8 21 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 64067261 64067261 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:64067261G>C uc002amp.2 - 2 710 c.562C>G c.(562-564)CTT>GTT p.L188V HERC1_uc010uil.1_Missense_Mutation_p.L188V|HERC1_uc010bgt.1_Missense_Mutation_p.L188V|HERC1_uc002amq.1_Missense_Mutation_p.L188V NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 188 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCGTTGCAAAGACTGAGACCA 0.418 NA 73 213 0 0 0 0 CRABP1 1381 broad.mit.edu 37 15 78640277 78640277 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:78640277C>T uc002bdp.2 + 4 477 c.372C>T c.(370-372)GGC>GGT p.G124G NM_004378 NP_004369 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 124 multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity 0 Alitretinoin(DB00523)|Etretinate(DB00926) AGACGTTTGGCGCCGATGACG 0.478 NA 34 45 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90119305 90119305 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:90119305C>T uc002boe.2 + 1 488 c.488C>T c.(487-489)TCG>TTG p.S163L NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 163 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TGTCCGCACTCGCAGAGGGAG 0.682 NA 9 8 0 0 0 0 IQGAP1 8826 broad.mit.edu 37 15 90984777 90984777 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr15:90984777G>A uc002bpl.1 + 8 790 c.689G>A c.(688-690)CGT>CAT p.R230H NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 230 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GCTATTGACCGTAGAATTCCA 0.353 NA 16 45 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3778359 3778359 + Missense_Mutation SNP T T A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr16:3778359T>A uc002cvv.2 - 31 6893 c.6689A>T c.(6688-6690)CAG>CTG p.Q2230L CREBBP_uc002cvw.2_Missense_Mutation_p.Q2192L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2230 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTGCTGGAACTGGCCGTGCCC 0.498 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 9 9 0 0 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351103 89351103 + Missense_Mutation SNP T T G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr16:89351103T>G uc002fmx.1 - 9 2308 c.1847A>C c.(1846-1848)GAG>GCG p.E616A ANKRD11_uc002fmy.1_Missense_Mutation_p.E616A|ANKRD11_uc002fnc.1_Missense_Mutation_p.E616A|ANKRD11_uc002fnb.1_Missense_Mutation_p.E573A NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 616 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GACAGCGCCCTCCGCGCTGGA 0.537 NA 10 41 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577129 7577129 + Missense_Mutation SNP A A C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:7577129A>C uc002gim.2 - 8 1003 c.809T>G c.(808-810)TTT>TGT p.F270C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138C|TP53_uc010cng.1_Missense_Mutation_p.F138C|TP53_uc002gii.1_Missense_Mutation_p.F138C|TP53_uc010cnh.1_Missense_Mutation_p.F270C|TP53_uc010cni.1_Missense_Mutation_p.F270C|TP53_uc002gij.2_Missense_Mutation_p.F270C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 270 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCACCTCAAAGCTGTTCCG 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 15 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578217 7578217 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:7578217G>A uc002gim.2 - 6 826 c.632C>T c.(631-633)ACT>ATT p.T211I TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.2_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.1_Missense_Mutation_p.T172I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 211 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGTCGAAAAGTGTTTCTGTC 0.532 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 22 0 0 0 0 C17orf68 80169 broad.mit.edu 37 17 8131878 8131878 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:8131878G>A uc002gkq.3 - 22 3516 c.3457C>T c.(3457-3459)CGT>TGT p.R1153C C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 1153 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 ACAATAGGACGGAGGACAGAG 0.507 NA 57 234 0 0 0 0 TTC19 54902 broad.mit.edu 37 17 15902870 15902870 + Nonsense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:15902870C>G uc002gph.1 + 1 89 c.71C>G c.(70-72)TCA>TGA p.S24* ZSWIM7_uc002gpe.2_Silent_p.L13L|ZSWIM7_uc002gpf.2_Silent_p.L13L|ZSWIM7_uc002gpg.2_RNA|TTC19_uc010cox.1_RNA NM_017775 NP_060245 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 Error:Variant_position_missing_in_Q6DKK2_after_alignment cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCATCTCGCTCAGGAGCTCCT 0.746 NA 3 12 0 0 0 0 TOP3A 7156 broad.mit.edu 37 17 18178288 18178288 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:18178288G>T uc002gsx.1 - 19 3063 c.2834C>A c.(2833-2835)TCT>TAT p.S945Y TOP3A_uc010cpz.1_Missense_Mutation_p.S397Y|TOP3A_uc010vxr.1_Missense_Mutation_p.S475Y|TOP3A_uc002gsw.1_Missense_Mutation_p.S397Y|TOP3A_uc010vxs.1_Missense_Mutation_p.S843Y NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 945 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CGGGGCTCCAGAAGTCCCTGT 0.502 NA 26 56 4.78e-09 1.11e-08 1 0 CACNB1 782 broad.mit.edu 37 17 37343809 37343809 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:37343809G>T uc002hrm.1 - 4 490 c.337C>A c.(337-339)CCG>ACG p.P113T CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.P113T|CACNB1_uc002hro.2_Missense_Mutation_p.P113T|CACNB1_uc002hrp.1_Missense_Mutation_p.P113T|CACNB1_uc010web.1_Missense_Mutation_p.P66T NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 113 SH3. axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCTGGAGACGGATTGTAGCCA 0.532 NA 53 71 2.17e-26 5.31e-26 1 0 KRT27 342574 broad.mit.edu 37 17 38933792 38933792 + Missense_Mutation SNP A A T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:38933792A>T uc002hvg.2 - 6 1206 c.1165T>A c.(1165-1167)TGC>AGC p.C389S NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 389 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) ATCAGGAGGCAGTAGGTCTCA 0.443 NA 23 105 0 0 0 0 TUBD1 51174 broad.mit.edu 37 17 57951959 57951959 + Missense_Mutation SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:57951959C>A uc002ixw.1 - 6 1153 c.875G>T c.(874-876)TGG>TTG p.W292L TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.W257L|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Missense_Mutation_p.W292L|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Missense_Mutation_p.W76L|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 292 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) GAGGCCAGCCCAAGTAAATGT 0.418 NA 7 244 0.00198382 0.00419222 1 0 ITGB4 3691 broad.mit.edu 37 17 73749930 73749930 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:73749930C>T uc002jpg.2 + 33 4380 c.4193C>T c.(4192-4194)CCG>CTG p.P1398L ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1398 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GAGCTCATCCCGCGCCTGTCG 0.776 NA 7 7 0 0 0 0 ENGASE 64772 broad.mit.edu 37 17 77073809 77073809 + Silent SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:77073809C>G uc002jwv.2 + 3 287 c.279C>G c.(277-279)CTC>CTG p.L93L ENGASE_uc002jwu.1_Silent_p.L93L|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 93 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 TGGAGGAGCTCTTGGCGTGGA 0.547 NA 56 65 0 0 0 0 C18orf8 29919 broad.mit.edu 37 18 21111620 21111620 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr18:21111620C>G uc010xax.1 + 21 2047 c.1926C>G c.(1924-1926)TTC>TTG p.F642L C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Nonsense_Mutation_p.S225*|NPC1_uc010dlu.1_Intron|NPC1_uc010xaz.1_3'UTR|NPC1_uc002kum.3_3'UTR NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 642 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTGCTTTTTTCAAACAGATTT 0.348 NA 24 76 0 0 0 0 HAUS1 115106 broad.mit.edu 37 18 43698200 43698200 + Missense_Mutation SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr18:43698200C>A uc002lbu.2 + 3 339 c.259C>A c.(259-261)CTC>ATC p.L87I HAUS1_uc002lbv.2_Missense_Mutation_p.L11I NM_138443 NP_612452 Q96CS2 HAUS1_HUMAN coiled-coil domain containing 5 87 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole ovary(1) 1 CCCCGCCAATCTCTCTAGCAC 0.418 NA 17 77 8.34e-07 1.88e-06 1 0 AP3D1 8943 broad.mit.edu 37 19 2110868 2110868 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:2110868C>G uc002luz.2 - 25 3050 c.2827G>C c.(2827-2829)GAG>CAG p.E943Q AP3D1_uc010dsv.2_Missense_Mutation_p.E33Q|AP3D1_uc002luy.2_Missense_Mutation_p.E902Q|AP3D1_uc002lva.2_Missense_Mutation_p.E1005Q NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 943 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) 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) TGGCTGTCCTCCTGCAGACTG 0.622 NA 5 29 0 0 0 0 DDX39 10212 broad.mit.edu 37 19 14520565 14520565 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:14520565C>G uc010xnp.1 - 7 898 c.853G>C c.(853-855)GAG>CAG p.E285Q DDX39_uc002myo.2_Missense_Mutation_p.E285Q|DDX39_uc010dzl.2_RNA NM_005804 NP_005795 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 285 Helicase C-terminal. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding 0 TGGTTAAACTCCAGCACATCC 0.562 NA 19 41 0 0 0 0 HSH2D 84941 broad.mit.edu 37 19 16268177 16268177 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:16268177C>T uc002ndp.3 + 8 1163 c.632C>T c.(631-633)CCC>CTC p.P211L HSH2D_uc002ndr.2_Missense_Mutation_p.P154L|HSH2D_uc010ead.2_RNA NM_032855 NP_116244 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 211 cytoplasm|nucleus 0 AAAATGCTCCCCGAGAGAGGC 0.562 NA 19 34 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38943488 38943488 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:38943488G>A uc002oit.2 + 13 1404 c.1274G>A c.(1273-1275)CGG>CAG p.R425Q RYR1_uc002oiu.2_Missense_Mutation_p.R425Q NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 425 Cytoplasmic. 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) GGGAAGCCACGGGGCTCGGGG 0.662 NA 5 15 0 0 0 0 GRIN2D 2906 broad.mit.edu 37 19 48917263 48917263 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:48917263C>T uc002pjc.3 + 4 1189 c.1101C>T c.(1099-1101)ATC>ATT p.I367I NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 367 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TCATGAACATCACGTGGGATA 0.587 NA 8 47 0 0 0 0 ZNF347 84671 broad.mit.edu 37 19 53644215 53644215 + Missense_Mutation SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:53644215C>A uc002qbb.1 - 5 1935 c.1866G>T c.(1864-1866)GAG>GAT p.E622D ZNF347_uc010eql.1_Missense_Mutation_p.E623D|ZNF347_uc002qbc.1_Missense_Mutation_p.E623D NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 622 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TGTAAGGTTTCTCTCCAGTAT 0.368 NA 40 43 2.2e-31 5.41e-31 1 0 ZNF524 147807 broad.mit.edu 37 19 56114117 56114117 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:56114117C>T uc002qlk.1 + 2 722 c.639C>T c.(637-639)CTC>CTT p.L213L FIZ1_uc002qlj.3_5'Flank NM_153219 NP_694951 Q96C55 ZN524_HUMAN zinc finger protein 524 213 C2H2-type 4. 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) CCAACACGCTCCGGCGCCATG 0.711 NA 18 9 0 0 0 0 ZNF530 348327 broad.mit.edu 37 19 58118331 58118331 + Nonsense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr19:58118331C>T uc002qpk.2 + 3 1658 c.1438C>T c.(1438-1440)CGA>TGA p.R480* ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 480 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGACCTCATTCGACACCAGAC 0.433 NA 29 28 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27804296 27804296 + Silent SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:27804296G>A uc002rkz.3 + 1 4908 c.4857G>A c.(4855-4857)GAG>GAA p.E1619E ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1619 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GTCCCCCCGAGAGGAGCTGTC 0.562 NA 32 71 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27804510 27804510 + Nonsense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:27804510G>T uc002rkz.3 + 1 5122 c.5071G>T c.(5071-5073)GAG>TAG p.E1691* ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1691 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|8. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CAGTCCCTCTGAGAGAAGACA 0.577 NA 41 140 2.05e-20 4.94e-20 1 0 WDR92 116143 broad.mit.edu 37 2 68365916 68365916 + Silent SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:68365916G>C uc002see.1 - 5 672 c.591C>G c.(589-591)CTC>CTG p.L197L WDR92_uc002sed.1_RNA|WDR92_uc002sef.1_Silent_p.L197L|WDR92_uc002seg.1_Silent_p.L96L NM_138458 NP_612467 Q96MX6 WDR92_HUMAN monad 197 WD 3. apoptosis|histone lysine methylation methylated histone residue binding 0 CCATATTTCTGAGATCAAATA 0.383 NA 32 114 0 0 0 0 PLEK 5341 broad.mit.edu 37 2 68615548 68615548 + Missense_Mutation SNP T T G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:68615548T>G uc002sen.3 + 6 849 c.687T>G c.(685-687)AAT>AAG p.N229K PLEK_uc010fde.2_Missense_Mutation_p.N229K NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 229 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GTGAAGAGAATTCCAGTGATG 0.453 NA 42 42 0 0 0 0 SAP130 79595 broad.mit.edu 37 2 128712891 128712891 + Silent SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:128712891C>A uc002tpp.2 - 15 2196 c.2064G>T c.(2062-2064)GTG>GTT p.V688V SAP130_uc002tpn.2_Silent_p.V448V|SAP130_uc002tpo.2_Silent_p.V468V|SAP130_uc010fmd.2_Silent_p.V723V|SAP130_uc002tpq.1_Silent_p.V696V NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 688 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TGGCCATAGACACGTGGATTT 0.463 NA 16 52 3.46e-05 7.57e-05 1 0 SPOPL 339745 broad.mit.edu 37 2 139316665 139316665 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:139316665G>T uc002tvh.2 + 6 954 c.554G>T c.(553-555)CGT>CTT p.R185L NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 185 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) CCTGAGTGTCGTCTAGCAGAA 0.368 NA 29 55 1.25e-16 2.99e-16 1 0 FIGN 55137 broad.mit.edu 37 2 164466892 164466892 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:164466892C>G uc002uck.1 - 3 1761 c.1450G>C c.(1450-1452)GAC>CAC p.D484H NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 484 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TCATTCCAGTCCACTGGAGGT 0.512 NA 11 89 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:178098960C>G uc002ulh.3 - 2 640 c.85G>C c.(85-87)GAT>CAT p.D29H NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 9 36 0 0 0 0 GULP1 51454 broad.mit.edu 37 2 189434754 189434754 + Splice_Site SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:189434754G>T uc010fru.2 + 9 978 c.517_splice c.e9-1 p.I173_splice GULP1_uc002uqd.2_Splice_Site_p.I173_splice|GULP1_uc010zfw.1_Splice_Site_p.I70_splice|GULP1_uc002uqf.2_Splice_Site_p.I173_splice|GULP1_uc002uqg.2_Splice_Site_p.I173_splice|GULP1_uc002uqh.1_5'Flank NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TTTCTTTTTAGATCCAAGACT 0.279 NA 6 22 3.6e-05 7.85e-05 1 0 COL3A1 1281 broad.mit.edu 37 2 189867029 189867029 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:189867029G>C uc002uqj.1 + 35 2514 c.2397G>C c.(2395-2397)GAG>GAC p.E799D NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 799 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTCAGGGTGAGAGAGGTGAAA 0.438 NA 9 31 0 0 0 0 RAPH1 65059 broad.mit.edu 37 2 204305768 204305768 + Silent SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:204305768A>G uc002vad.2 - 14 2370 c.2145T>C c.(2143-2145)CCT>CCC p.P715P NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 715 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 ggggtggaggagggggagggg 0.488 NA 4 22 0 0 0 0 ATIC 471 broad.mit.edu 37 2 216191665 216191665 + Missense_Mutation SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:216191665C>A uc002vex.3 + 7 826 c.652C>A c.(652-654)CAG>AAG p.Q218K ATIC_uc010zjo.1_Missense_Mutation_p.Q159K|ATIC_uc002vey.3_Missense_Mutation_p.Q217K NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 218 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GACCCCTGCCCAGCTGTACAC 0.483 NA T ALK ALCL 26 79 7.93e-12 1.88e-11 1 0 HSPA12B 116835 broad.mit.edu 37 20 3726199 3726199 + Silent SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr20:3726199G>A uc002wjd.2 + 6 616 c.513G>A c.(511-513)GAG>GAA p.E171E HSPA12B_uc010zqi.1_Silent_p.E171E|HSPA12B_uc002wje.2_Silent_p.E84E|HSPA12B_uc010zqj.1_Silent_p.E5E NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 171 ATP binding 0 CCGCCCTGGAGGTGTTCGCCC 0.637 NA 12 51 0 0 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32217677 32217677 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr20:32217677C>T uc002wzg.1 + 9 1749 c.1212C>T c.(1210-1212)GTC>GTT p.V404V CBFA2T2_uc010zug.1_Silent_p.V178V|CBFA2T2_uc002wze.1_Silent_p.V395V|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.V375V|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 404 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 CCGAGTTGGTCTCCAGGCAGC 0.507 NA 22 27 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40757407 40757407 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr20:40757407G>A uc002xkg.2 - 19 3018 c.2834C>T c.(2833-2835)GCC>GTC p.A945V PTPRT_uc010ggj.2_Missense_Mutation_p.A964V|PTPRT_uc010ggi.2_Missense_Mutation_p.A148V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 945 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). 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 skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AATGTAGTTGGCATTGATGTA 0.542 NA 6 64 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36712573 36712573 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr22:36712573C>T uc003apg.2 - 12 1600 c.1369G>A c.(1369-1371)GAG>AAG p.E457K MYH9_uc003aph.1_Missense_Mutation_p.E321K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 457 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TCAAAGATCTCGAAGCCGGCA 0.572 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 34 86 0 0 0 0 PTH1R 5745 broad.mit.edu 37 3 46937299 46937299 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr3:46937299G>T uc003cqm.2 + 5 456 c.253G>T c.(253-255)GGG>TGG p.G85W PTH1R_uc003cqn.2_Missense_Mutation_p.G85W NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 85 Extracellular (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 TAAGGCATCTGGGAAGCTCTA 0.552 NA Ollier_disease_/_Maffuci_syndrome OREG0015543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 26 2.18e-05 4.78e-05 1 0 NICN1 84276 broad.mit.edu 37 3 49466588 49466588 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr3:49466588C>T uc003cwz.1 - 1 170 c.85G>A c.(85-87)GGC>AGC p.G29S NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.G29S NM_032316 NP_115692 Q9BSH3 NICN1_HUMAN nicolin 1 29 microtubule|nucleus 0 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACCAGCACGCCAGGCCGGCCT 0.682 NA 10 18 0 0 0 0 C3orf63 23272 broad.mit.edu 37 3 56675420 56675420 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr3:56675420G>C uc003did.3 - 15 2677 c.2576C>G c.(2575-2577)TCT>TGT p.S859C C3orf63_uc003dic.3_Missense_Mutation_p.S463C|C3orf63_uc003die.3_Missense_Mutation_p.S859C NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 859 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TTCGCTGGTAGAAATAGCAAC 0.403 NA 5 18 0 0 0 0 PARP15 165631 broad.mit.edu 37 3 122340298 122340298 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr3:122340298G>T uc003efm.2 + 8 1137 c.1071G>T c.(1069-1071)CAG>CAT p.Q357H PARP15_uc003efn.2_Missense_Mutation_p.Q231H|PARP15_uc003efo.1_Missense_Mutation_p.Q104H|PARP15_uc003efp.1_Missense_Mutation_p.Q123H|PARP15_uc011bjt.1_Missense_Mutation_p.Q123H NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 335 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) CAGCTGCACAGCCTCACAGAG 0.393 NA 38 22 1.85e-21 4.48e-21 1 0 TXNDC6 347736 broad.mit.edu 37 3 138023770 138023770 + Nonsense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr3:138023770G>A uc003esg.2 - 9 764 c.736C>T c.(736-738)CGA>TGA p.R246* TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Nonsense_Mutation_p.R161*|TXNDC6_uc003ese.1_Nonsense_Mutation_p.R185* NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 246 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 ATGACGGTTCGCCAGGTAGTG 0.572 NA 30 170 0 0 0 0 OTOL1 131149 broad.mit.edu 37 3 161221279 161221279 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr3:161221279G>A uc011bpb.1 + 4 983 c.983G>A c.(982-984)CGG>CAG p.R328Q NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 328 Collagen-like 3. collagen 0 AAGGGCTCTCGGGGCTTTAAA 0.572 NA 4 27 0 0 0 0 PPEF2 5470 broad.mit.edu 37 4 76811247 76811247 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr4:76811247C>T uc003hix.2 - 5 637 c.280G>A c.(280-282)GCC>ACC p.A94T PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.A94T NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 94 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAGTCCTGGGCGAATCTGTCC 0.522 NA 35 38 0 0 0 0 PDHA2 5161 broad.mit.edu 37 4 96761704 96761704 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr4:96761704G>C uc003htr.3 + 1 466 c.403G>C c.(403-405)GAG>CAG p.E135Q NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 135 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CATTCTCGCAGAGCTGACGGG 0.512 NA 41 37 0 0 0 0 CCRN4L 25819 broad.mit.edu 37 4 139965958 139965958 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr4:139965958G>C uc003ihl.2 + 3 819 c.626G>C c.(625-627)AGA>ACA p.R209T NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 209 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) CTCCTCAGTAGACTAGGCTAT 0.458 NA 16 77 0 0 0 0 TKTL2 84076 broad.mit.edu 37 4 164394488 164394488 + Silent SNP T T A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr4:164394488T>A uc003iqp.3 - 1 560 c.399A>T c.(397-399)GCA>GCT p.A133A NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 133 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCATTCCACATGCAGTACCTA 0.547 NA 20 65 0 0 0 0 TTC33 23548 broad.mit.edu 37 5 40716573 40716573 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr5:40716573G>A uc003jma.2 - 5 611 c.463C>T c.(463-465)CAC>TAC p.H155Y TTC33_uc011cpm.1_Missense_Mutation_p.H47Y|TTC33_uc010ivg.2_3'UTR NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 155 TPR 3. binding ovary(1) 1 GGATAGATGTGAAGGGCTACT 0.373 NA 20 73 0 0 0 0 DHFR 1719 broad.mit.edu 37 5 79929781 79929781 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr5:79929781G>T uc003kgy.1 - 5 892 c.400C>A c.(400-402)CTA>ATA p.L134I DHFR_uc011ctl.1_Intron|DHFR_uc011ctm.1_Missense_Mutation_p.L82I|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Missense_Mutation_p.L283I NM_000791 NP_000782 P00374 DYR_HUMAN dihydrofolate reductase 134 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) GTCACAAATAGTTTAAGATGG 0.328 NA 13 32 2e-07 4.58e-07 1 0 ACOT12 134526 broad.mit.edu 37 5 80667608 80667608 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr5:80667608G>C uc003khl.3 - 3 274 c.219C>G c.(217-219)ATC>ATG p.I73M RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.I73M NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 73 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CTTTTGCTTTGATGGTTATAA 0.363 NA 18 44 0 0 0 0 MGAT4B 11282 broad.mit.edu 37 5 179226007 179226007 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr5:179226007C>T uc003mks.2 - 11 1633 c.1264G>A c.(1264-1266)GAG>AAG p.E422K MGAT4B_uc003mkp.2_Missense_Mutation_p.E276K|MGAT4B_uc003mkq.2_Missense_Mutation_p.R197Q|MGAT4B_uc003mkr.2_Missense_Mutation_p.E437K|MIR1229_hsa-mir-1229|MI0006319_5'Flank NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 422 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAAGTCCTCGCGCAGGTAG 0.607 NA 54 76 0 0 0 0 FAM136B 387071 broad.mit.edu 37 6 3045941 3045941 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:3045941C>T uc011dhr.1 + 1 324 c.324C>T c.(322-324)GAC>GAT p.D108D NM_001012983 NP_001013001 hypothetical protein LOC387071 0 Ovarian(93;0.0386) all_hematologic(90;0.108) AGCAGCTGGACGGTTGTGTGA 0.483 NA 5 86 0 0 0 0 FAM136B 387071 broad.mit.edu 37 6 3045944 3045944 + Silent SNP T T C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:3045944T>C uc011dhr.1 + 1 327 c.327T>C c.(325-327)GGT>GGC p.G109G NM_001012983 NP_001013001 hypothetical protein LOC387071 0 Ovarian(93;0.0386) all_hematologic(90;0.108) AGCTGGACGGTTGTGTGACCA 0.483 NA 5 85 0 0 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217479 26217479 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:26217479G>A uc003nha.1 + 1 332 c.277G>A c.(277-279)GAG>AAG p.E93K HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 93 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) CAACGACGAGGAGCTAAATAA 0.592 NA 19 76 0 0 0 0 PGBD1 84547 broad.mit.edu 37 6 28268867 28268867 + Silent SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:28268867C>G uc003nky.2 + 7 1606 c.1236C>G c.(1234-1236)CTC>CTG p.L412L PGBD1_uc003nkz.2_Silent_p.L412L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 412 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TTTTGAATCTCAAGAGCGAAA 0.348 NA 15 67 0 0 0 0 RNF8 9025 broad.mit.edu 37 6 37344797 37344797 + Silent SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:37344797A>G uc003onq.3 + 6 1417 c.1224A>G c.(1222-1224)GAA>GAG p.E408E RNF8_uc003onr.3_Silent_p.E408E|RNF8_uc011dtx.1_Silent_p.E340E NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 408 RING-type. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 TTTGTTCAGAATACTTCATTG 0.284 NA 7 9 0 0 0 0 EPHA7 2045 broad.mit.edu 37 6 94120657 94120657 + Missense_Mutation SNP A A T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:94120657A>T uc003poe.2 - 3 635 c.394T>A c.(394-396)TAT>AAT p.Y132N EPHA7_uc003pof.2_Missense_Mutation_p.Y132N|EPHA7_uc011eac.1_Missense_Mutation_p.Y132N|EPHA7_uc003pog.3_Missense_Mutation_p.Y132N NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 132 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCAGTGTCATAGTCTGTTTCA 0.368 NA 33 46 0 0 0 0 C6orf170 221322 broad.mit.edu 37 6 121563420 121563420 + Missense_Mutation SNP A A T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:121563420A>T uc003pyo.1 - 18 2152 c.2084T>A c.(2083-2085)CTA>CAA p.L695Q C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.L214Q NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 695 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) TTGAAGAAGTAGTAATCCTTT 0.343 NA 16 49 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129475657 129475657 + Missense_Mutation SNP T T A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:129475657T>A uc003qbn.2 + 8 1140 c.1035T>A c.(1033-1035)AAT>AAA p.N345K LAMA2_uc003qbo.2_Missense_Mutation_p.N345K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 345 Laminin EGF-like 2. 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) CAGCATGCAATTGTCATGGAA 0.289 NA 14 32 0 0 0 0 HBS1L 10767 broad.mit.edu 37 6 135371740 135371740 + Missense_Mutation SNP T T C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:135371740T>C uc003qez.2 - 2 296 c.89A>G c.(88-90)TAT>TGT p.Y30C HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_5'UTR|HBS1L_uc011eda.1_Missense_Mutation_p.Y30C|HBS1L_uc003qfa.2_Missense_Mutation_p.Y30C NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 30 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) CGAAATACAATAATCATCCTC 0.299 NA 10 8 0 0 0 0 SLC22A2 6582 broad.mit.edu 37 6 160666488 160666488 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr6:160666488C>T uc003qtf.2 - 6 1217 c.1047G>A c.(1045-1047)ATG>ATA p.M349I SLC22A2_uc003qte.1_Missense_Mutation_p.M349I NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 349 Helical; (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) ACATCAATATCATAGTATGTT 0.373 NA 7 25 0 0 0 0 MEOX2 4223 broad.mit.edu 37 7 15725704 15725704 + Silent SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:15725704G>T uc003stc.2 - 1 605 c.324C>A c.(322-324)CTC>CTA p.L108L MEOX2_uc011jxw.1_Silent_p.L108L NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 108 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) GCTGGAGGCAGAGGCTGTGCC 0.567 NA 10 3 4.69e-08 1.08e-07 1 0 FKBP14 55033 broad.mit.edu 37 7 30066006 30066006 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:30066006C>T uc003tal.1 - 1 263 c.119G>A c.(118-120)CGC>CAC p.R40H PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank NM_017946 NP_060416 Q9NWM8 FKB14_HUMAN FK506 binding protein 14 precursor 40 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TTTGGTCTTGCGATGGCAGAT 0.468 NA 6 206 0 0 0 0 ELMO1 9844 broad.mit.edu 37 7 36895309 36895309 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:36895309C>T uc003tfk.1 - 22 2338 c.2031G>A c.(2029-2031)ATG>ATA p.M677I ELMO1_uc003tfi.1_Missense_Mutation_p.M197I|ELMO1_uc003tfj.1_Missense_Mutation_p.M197I|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.M581I|ELMO1_uc010kxg.1_Missense_Mutation_p.M677I NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 677 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GGTCGCTCATCATGTCCTTCC 0.542 NA 38 150 0 0 0 0 GCK 2645 broad.mit.edu 37 7 44191894 44191894 + Silent SNP G G A rs149412035 byFrequency TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:44191894G>A uc003tkl.2 - 3 809 c.339C>T c.(337-339)GAC>GAT p.D113D GCK_uc003tkj.1_Silent_p.D112D|GCK_uc003tkk.1_Silent_p.D114D NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 113 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CGGTCATGGCGTCCTCGGGGA 0.632 NA 98 84 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57188597 57188597 + Silent SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:57188597A>G uc010kzo.2 - 5 796 c.525T>C c.(523-525)GAT>GAC p.D175D NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) ATCTTGTTTTATCTCTATTGG 0.279 NA 18 40 0 0 0 0 PTPN12 5782 broad.mit.edu 37 7 77256506 77256506 + Missense_Mutation SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:77256506A>G uc003ugh.2 + 13 1601 c.1510A>G c.(1510-1512)AAC>GAC p.N504D PTPN12_uc011kgp.1_Missense_Mutation_p.N385D|PTPN12_uc011kgq.1_Missense_Mutation_p.N374D|PTPN12_uc010lds.2_Missense_Mutation_p.N236D NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 504 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 AACACAATCAAACAAAGTTTC 0.428 NA 8 52 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963135 88963135 + Missense_Mutation SNP A A C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:88963135A>C uc011khi.1 + 4 1377 c.839A>C c.(838-840)GAG>GCG p.E280A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 280 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGGAAAAAGAGGTAAATATC 0.358 NA HNSCC(36;0.09) 11 39 0 0 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761451 92761451 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:92761451C>T uc003umh.1 - 5 5050 c.3834G>A c.(3832-3834)CTG>CTA p.L1278L SAMD9L_uc003umj.1_Silent_p.L1278L|SAMD9L_uc003umi.1_Silent_p.L1278L|SAMD9L_uc010lfb.1_Silent_p.L1278L|SAMD9L_uc003umk.1_Silent_p.L1278L|SAMD9L_uc010lfc.1_Silent_p.L1278L|SAMD9L_uc010lfd.1_Silent_p.L1278L|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1278 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ACCTCATTTTCAGAAGAACCA 0.328 NA 16 61 0 0 0 0 EPHB4 2050 broad.mit.edu 37 7 100420076 100420076 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:100420076C>T uc003uwn.1 - 4 1116 c.625G>A c.(625-627)GAG>AAG p.E209K EPHB4_uc003uwm.1_Missense_Mutation_p.E116K|EPHB4_uc010lhj.1_Missense_Mutation_p.E209K|EPHB4_uc011kkf.1_Missense_Mutation_p.E209K|EPHB4_uc011kkg.1_Missense_Mutation_p.E209K|EPHB4_uc011kkh.1_Missense_Mutation_p.E209K NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 209 Extracellular (Potential).|Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCACAGTCTCCGGGAATCGA 0.657 NA 11 31 0 0 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519867 113519867 + Missense_Mutation SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:113519867A>G uc010ljy.1 - 4 1311 c.1280T>C c.(1279-1281)CTA>CCA p.L427P NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 427 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TAATTGCACTAGTTCATCACT 0.428 NA 85 62 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117450885 117450885 + Silent SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr7:117450885G>A uc003vjf.2 - 3 440 c.348C>T c.(346-348)GCC>GCT p.A116A NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 116 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TCTTGCAGTGGGCCATGACTG 0.507 NA 47 217 0 0 0 0 TG 7038 broad.mit.edu 37 8 133898695 133898695 + Nonsense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr8:133898695G>T uc003ytw.2 + 9 1119 c.1078G>T c.(1078-1080)GAA>TAA p.E360* NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 360 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCATGCAGCTGAAGGCCAATC 0.493 NA 50 98 3.86e-30 9.47e-30 1 0 TIGD5 84948 broad.mit.edu 37 8 144681367 144681367 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr8:144681367G>A uc003yyx.1 + 1 1147 c.1147G>A c.(1147-1149)GAG>AAG p.E383K EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 432 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 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) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GTACAAGCGCGAGCTGCTGCG 0.647 NA 10 28 0 0 0 0 MAPK15 225689 broad.mit.edu 37 8 144801638 144801638 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr8:144801638C>T uc003yzj.2 + 7 748 c.707C>T c.(706-708)CCG>CTG p.P236L NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 236 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACCATCCCACCGCCATCTGAG 0.657 NA 26 28 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144942354 144942354 + Missense_Mutation SNP T T C rs113992087 TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr8:144942354T>C uc003zaa.1 - 1 5081 c.5068A>G c.(5068-5070)ATC>GTC p.I1690V NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1690 Plectin 29. 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) GGGTCGATGATGCCGCCCGTG 0.677 NA 14 114 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 145012852 145012852 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr8:145012852C>T uc003zaf.1 - 2 702 c.532G>A c.(532-534)GAT>AAT p.D178N PLEC_uc003zab.1_Missense_Mutation_p.D41N|PLEC_uc003zac.1_Missense_Mutation_p.D45N|PLEC_uc003zad.2_Missense_Mutation_p.D41N|PLEC_uc003zae.1_Missense_Mutation_p.D9N|PLEC_uc003zag.1_Missense_Mutation_p.D19N|PLEC_uc003zah.2_Missense_Mutation_p.D27N|PLEC_uc003zaj.2_Missense_Mutation_p.D68N NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 178 Globular 1.|Actin-binding. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCACACGATCCCGCTCATCT 0.627 NA 20 67 0 0 0 0 CPSF1 29894 broad.mit.edu 37 8 145624248 145624248 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr8:145624248C>T uc003zcj.2 - 17 1634 c.1559G>A c.(1558-1560)CGG>CAG p.R520Q NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 520 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CACCTGGGGCCGGATGCTCTT 0.642 NA 97 85 0 0 0 0 DNAJA1 3301 broad.mit.edu 37 9 33034296 33034296 + Silent SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:33034296G>T uc003zsd.1 + 6 909 c.726G>T c.(724-726)GTG>GTT p.V242V DNAJA1_uc011lnt.1_Silent_p.V85V|DNAJA1_uc003zse.1_Silent_p.V242V NM_001539 NP_001530 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 242 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) TTATCATTGTGTTAGATCAGA 0.368 NA 13 26 5.51e-06 1.22e-05 1 0 PTAR1 375743 broad.mit.edu 37 9 72338400 72338400 + Missense_Mutation SNP C C G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:72338400C>G uc004ahj.3 - 6 811 c.789G>C c.(787-789)TTG>TTC p.L263F PTAR1_uc004ahi.2_Missense_Mutation_p.L184F NM_001099666 NP_001093136 Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat 263 protein prenylation protein prenyltransferase activity central_nervous_system(1) 1 GCTCACTTCTCAAAGGATTTT 0.423 NA 19 53 0 0 0 0 TRPM3 80036 broad.mit.edu 37 9 73167793 73167793 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:73167793C>T uc004aid.2 - 23 3749 c.3505G>A c.(3505-3507)GAG>AAG p.E1169K TRPM3_uc004ahu.2_Missense_Mutation_p.E1011K|TRPM3_uc004ahv.2_Missense_Mutation_p.E971K|TRPM3_uc004ahw.2_Missense_Mutation_p.E1041K|TRPM3_uc004ahx.2_Missense_Mutation_p.E1028K|TRPM3_uc004ahy.2_Missense_Mutation_p.E1031K|TRPM3_uc004ahz.2_Missense_Mutation_p.E1018K|TRPM3_uc004aia.2_Missense_Mutation_p.E1016K|TRPM3_uc004aib.2_Missense_Mutation_p.E1006K|TRPM3_uc004aic.2_Missense_Mutation_p.E1169K NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1194 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GGGTCGCTCTCGTGTTTCCTC 0.527 NA 66 170 0 0 0 0 PTCH1 5727 broad.mit.edu 37 9 98239882 98239882 + Nonsense_Mutation SNP C C A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:98239882C>A uc004avk.3 - 10 1638 c.1450G>T c.(1450-1452)GGA>TGA p.G484* PTCH1_uc010mro.2_Nonsense_Mutation_p.G333*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.G333*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.G333*|PTCH1_uc004avl.3_Nonsense_Mutation_p.G333*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.G418*|PTCH1_uc004avm.3_Nonsense_Mutation_p.G483*|PTCH1_uc010mrs.1_Intron NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 484 SSD.|Helical; (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.G484R(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AGGCCCAGTCCTGCAGCCACT 0.572 NA Basal_Cell_Nevus_syndrome 45 10 3.55e-21 8.58e-21 1 0 ALG2 85365 broad.mit.edu 37 9 101980370 101980370 + Missense_Mutation SNP G G A TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:101980370G>A uc004azf.2 - 2 1167 c.1097C>T c.(1096-1098)CCG>CTG p.P366L ALG2_uc004azg.2_Missense_Mutation_p.P273L NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 366 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) GAAGTGCACCGGGTCAGGCTC 0.502 NA 26 59 0 0 0 0 C9orf4 23732 broad.mit.edu 37 9 111903702 111903702 + Silent SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:111903702C>T uc004bdw.1 - 4 783 c.783G>A c.(781-783)GTG>GTA p.V261V NM_014334 NP_055149 Q9P0K9 CI004_HUMAN hypothetical protein LOC23732 261 DOMON. integral to membrane 0 TGGGAACATTCACAGGGCGTT 0.448 NA 61 24 0 0 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536273 130536273 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:130536273C>T uc004bsc.2 - 2 653 c.511G>A c.(511-513)GAA>AAA p.E171K SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.E115K NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 171 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 ACCTACCTTTCTGAGTGCACG 0.448 NA 31 12 0 0 0 0 PPP2R4 5524 broad.mit.edu 37 9 131897100 131897100 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:131897100C>T uc004bxm.1 + 7 859 c.592C>T c.(592-594)CTC>TTC p.L198F PPP2R4_uc004bxl.1_Missense_Mutation_p.L163F|PPP2R4_uc011mbo.1_Missense_Mutation_p.L198F|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.L163F|PPP2R4_uc004bxo.1_Missense_Mutation_p.L121F|PPP2R4_uc011mbp.1_Missense_Mutation_p.L134F|PPP2R4_uc011mbq.1_Missense_Mutation_p.L121F|PPP2R4_uc010mys.1_Missense_Mutation_p.L128F NM_178001 NP_821068 Q15257 PTPA_HUMAN protein phosphatase 2A, regulatory subunit B' 198 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding ovary(1)|lung(1)|pancreas(1) 3 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) CGCTGCTTTCCTCTGCTGTCT 0.512 NA 55 14 0 0 0 0 SLC35A2 7355 broad.mit.edu 37 X 48762651 48762651 + Missense_Mutation SNP C C T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chrX:48762651C>T uc004dlo.1 - 4 539 c.535G>A c.(535-537)GTC>ATC p.V179I SLC35A2_uc011mml.1_Missense_Mutation_p.V192I|SLC35A2_uc004dlp.1_Missense_Mutation_p.V179I|SLC35A2_uc011mmm.1_Missense_Mutation_p.V207I|SLC35A2_uc011mmn.1_Missense_Mutation_p.V118I|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 179 Helical; (Potential). galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 ACAATGGCGACGCCAGTGAAG 0.657 NA 7 4 0 0 0 0 TAF1 6872 broad.mit.edu 37 X 70618519 70618519 + Missense_Mutation SNP G G C TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chrX:70618519G>C uc004dzu.3 + 24 3766 c.3715G>C c.(3715-3717)GAA>CAA p.E1239Q BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1260Q|TAF1_uc004dzv.3_Missense_Mutation_p.E413Q NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1239 HMG box. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) GAGGAACCAGGAAAAGGAGAA 0.458 NA 19 2 0 0 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985505 140985505 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chrX:140985505G>T uc011mwp.1 + 8 1819 c.1819G>T c.(1819-1821)GCT>TCT p.A607S MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 607 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTACATGGATGCTTTGAAAGA 0.488 NA 46 15 8.01e-26 1.95e-25 1 0 TFAP2E 339488 broad.mit.edu 37 1 36039988 36039988 + Frame_Shift_Del DEL C C - TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:36039988delC uc010ohy.1 + 2 696 c.488delC c.(487-489)GCCfs p.A163fs PSMB2_uc001bzd.1_3'UTR NM_178548 NP_848643 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating 163 nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CTGGCGGCGGCCCCCGGTCTG 0.711 NA 2 4 --- --- --- --- NA NA NA NA ACP6 51205 broad.mit.edu 37 1 147142082 147142083 + Frame_Shift_Ins INS - - C rs139439515 by1000genomes TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr1:147142082_147142083insC uc001epr.2 - 1 552_553 c.88_89insG c.(88-90)GCCfs p.A30fs ACP6_uc009wjj.1_Frame_Shift_Ins_p.A30fs NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 30 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) CTCGGCCAGGGCCACCCGCCGC 0.649 NA 2 4 --- --- --- --- NA NA NA NA CDK12 51755 broad.mit.edu 37 17 37657685 37657685 + Frame_Shift_Del DEL A A - TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr17:37657685delA uc010cvv.2 + 6 3188 c.2602delA c.(2602-2604)AATfs p.N868fs CDK12_uc010wef.1_Frame_Shift_Del_p.N867fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.N868fs NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 868 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 CATTTTGCTGAATAACAGGTA 0.333 NA TCGA Ovarian(9;0.13) 13 29 --- --- --- --- NA NA NA NA CDH7 1005 broad.mit.edu 37 18 63547973 63547973 + Frame_Shift_Del DEL C C - TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr18:63547973delC uc002ljz.2 + 12 2526 c.2201delC c.(2200-2202)GCTfs p.A734fs CDH7_uc002lkb.2_Frame_Shift_Del_p.A734fs NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 734 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CAGACATATGCTTTTGAAGGA 0.423 NA 21 102 --- --- --- --- NA NA NA NA DPP10 57628 broad.mit.edu 37 2 116572538 116572538 + Frame_Shift_Del DEL G G - TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr2:116572538delG uc002tla.1 + 20 2327 c.1870delG c.(1870-1872)GTAfs p.V624fs DPP10_uc002tlb.1_Frame_Shift_Del_p.V574fs|DPP10_uc002tlc.1_Frame_Shift_Del_p.V620fs|DPP10_uc002tle.2_Frame_Shift_Del_p.V628fs|DPP10_uc002tlf.1_Frame_Shift_Del_p.V617fs NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 624 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TTCAGTAGAAGTAAAGGACCA 0.358 NA 10 78 --- --- --- --- NA NA NA NA PSIP1 11168 broad.mit.edu 37 9 15472704 15472705 + Frame_Shift_Ins INS - - T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:15472704_15472705insT uc003zlv.3 - 10 1232_1233 c.902_903insA c.(901-903)AATfs p.N301fs PSIP1_uc003zlw.3_Frame_Shift_Ins_p.N301fs|PSIP1_uc003zlz.3_Frame_Shift_Ins_p.N301fs|PSIP1_uc003zma.3_Frame_Shift_Ins_p.N292fs|PSIP1_uc003zly.2_Frame_Shift_Ins_p.N301fs NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 301 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) CTTTCAGCATATTCCTTCTGTG 0.361 NA 72 17 --- --- --- --- NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21970919 21970919 + Frame_Shift_Del DEL C C - TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9e1bf26c-6a68-44d2-aaa8-9af2f67828aa de932da1-dde5-452c-bd57-3558533b8206 g.chr9:21970919delC uc003zpk.2 - 2 651 c.439delG c.(439-441)GCCfs p.A147fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 147 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.R128fs*12(3)|p.A147A(2)|p.A147T(2)|p.A118fs*10(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCTTCCGCGGCATCTATGCGG 0.597 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 29 10 --- --- --- --- NA NA NA NA