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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut NPHP4 261734 broad.mit.edu 37 1 5925161 5925161 + Splice_Site SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:5925161C>A uc001alq.1 - 27 4082 c.3816_splice c.e27+1 p.K1272_splice NPHP4_uc001alr.1_3'UTR NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) AGAGGCCGTACCTTCAGCTCC 0.637 NA 4 31 5.9392e-07 7.13212e-07 0.001168 1 0 KAZ 23254 broad.mit.edu 37 1 14925597 14925597 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:14925597G>A uc001avm.3 + 1 385 c.104G>A c.(103-105)CGG>CAG p.R35Q KAZ_uc009vog.1_Missense_Mutation_p.R35Q|KAZ_uc010obj.1_Missense_Mutation_p.R35Q NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 35 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 GCCACCAACCGGAGACTGGCG 0.448 NA 3 51 0 0 0.004672 0 0 HTR6 3362 broad.mit.edu 37 1 19992913 19992913 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:19992913G>T uc001bcl.2 + 1 1134 c.667G>T c.(667-669)GCC>TCC p.A223S NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 223 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGTGCAGGTGGCCTCCCTCAC 0.657 Esophageal Squamous(168;1879 2619 6848 21062) NA 12 25 6.42651e-13 8.76626e-13 0.010729 1 0 COL24A1 255631 broad.mit.edu 37 1 86590968 86590968 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:86590968C>A uc001dlj.2 - 3 1093 c.1051G>T c.(1051-1053)GTG>TTG p.V351L COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.V351L NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 351 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TGAGTGGTCACTGACAGGCTG 0.413 NA 46 48 3.77016e-25 6.30604e-25 0.013114 1 0 GBP4 115361 broad.mit.edu 37 1 89658733 89658733 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:89658733G>T uc001dnb.2 - 5 640 c.524C>A c.(523-525)CCT>CAT p.P175H NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 175 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) AGCTTCATCAGGTCTGGGGCA 0.478 NA 22 71 2.89027e-11 3.79516e-11 0.002299 1 0 PDE4DIP 9659 broad.mit.edu 37 1 145075718 145075718 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:145075718G>A uc001emh.2 - 1 362 c.145C>T c.(145-147)CGG>TGG p.R49W NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R49W|PDE4DIP_uc001emk.2_Missense_Mutation_p.R49W NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 723 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGTCTTTCCCGGCTCGGGGTC 0.716 NA T PDGFRB MPD 36 108 0 0 0.003755 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 8 115 0 0 0.00308 0 0 HRNR 388697 broad.mit.edu 37 1 152187539 152187540 + Missense_Mutation DNP CC CC AT TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:152187539_152187540CC>AT uc001ezt.1 - 3 6641_6642 c.6565_6566GG>AT c.(6565-6567)GGG>ATG p.G2189M NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2189 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAACCGGACCCATGTCGGCCG 0.644 NA 11 406 0 0 0.004672 0 0 ASH1L 55870 broad.mit.edu 37 1 155449990 155449990 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:155449990C>T uc009wqq.2 - 3 3151 c.2671G>A c.(2671-2673)GGC>AGC p.G891S ASH1L_uc001fkt.2_Missense_Mutation_p.G891S|ASH1L_uc009wqr.1_Missense_Mutation_p.G891S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 891 A.T hook 1. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTAGGCCTGCCTCTCTTTTTT 0.453 NA 135 78 0 0 0.00361 0 0 OR10X1 128367 broad.mit.edu 37 1 158549146 158549146 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:158549146C>A uc010pin.1 - 1 544 c.544G>T c.(544-546)GAC>TAC p.D182Y NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CAGAAAGAGTCCCTGAATATC 0.438 NA 51 38 1.81118e-26 3.12235e-26 0.00361 1 0 OR10J3 441911 broad.mit.edu 37 1 159283997 159283997 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:159283997C>A uc010piu.1 - 1 453 c.453G>T c.(451-453)GGG>GGT p.G151G NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) CAAGGCCAATCCCCAGTGATC 0.512 NA 55 36 3.13117e-07 3.82547e-07 0.00361 1 0 ATP1A4 480 broad.mit.edu 37 1 160124868 160124868 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:160124868A>T uc001fve.3 + 3 720 c.241A>T c.(241-243)ACT>TCT p.T81S ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 81 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAAATCCTGACTCGAGGTGG 0.507 NA 30 201 0 0 0.009535 0 0 TNN 63923 broad.mit.edu 37 1 175092666 175092666 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:175092666G>T uc001gkl.1 + 12 2894 c.2781G>T c.(2779-2781)AGG>AGT p.R927S NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 927 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGAGACCAGGGAGGTTCCGG 0.622 NA 61 27 1.74971e-23 2.85854e-23 0.00361 1 0 PAPPA2 60676 broad.mit.edu 37 1 176564316 176564316 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:176564316C>T uc001gkz.2 + 3 2740 c.1576C>T c.(1576-1578)CGC>TGC p.R526C PAPPA2_uc001gky.1_Missense_Mutation_p.R526C|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 526 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GAAGGTGATACGCTACCAGGT 0.537 NA 13 51 0 0 0.001368 0 0 CACNA1E 777 broad.mit.edu 37 1 181620507 181620507 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:181620507C>A uc001gow.2 + 7 1150 c.985C>A c.(985-987)CTG>ATG p.L329M CACNA1E_uc009wxr.2_Missense_Mutation_p.L236M|CACNA1E_uc009wxs.2_Missense_Mutation_p.L236M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 329 I.|Helical; Name=S6 of repeat I. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CTGGAATTGGCTGTACTTCAT 0.428 NA 135 74 1.26737e-53 2.61861e-53 0.00361 1 0 HMCN1 83872 broad.mit.edu 37 1 186026523 186026523 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:186026523G>T uc001grq.1 + 46 7531 c.7302G>T c.(7300-7302)AGG>AGT p.R2434S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2434 Ig-like C2-type 22. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATTCTGTGAGGATTCTTTCAG 0.393 NA 61 46 1.84395e-34 3.47752e-34 0.00361 1 0 OCLM 10896 broad.mit.edu 37 1 186370265 186370265 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:186370265G>T uc001gry.2 + 1 562 c.88G>T c.(88-90)GGT>TGT p.G30C C1orf27_uc001grw.2_Intron|C1orf27_uc010poq.1_Intron|C1orf27_uc010por.1_Intron NM_022375 NP_071770 Q9Y5M6 TISR_HUMAN oculomedin 30 visual perception 0 TTATAAAAGTGGTATTATATG 0.318 NA 21 107 2.39187e-15 3.50601e-15 0.008871 1 0 FAM5C 339479 broad.mit.edu 37 1 190067405 190067405 + Missense_Mutation SNP C C G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:190067405C>G uc001gse.1 - 8 2276 c.2044G>C c.(2044-2046)GAC>CAC p.D682H FAM5C_uc010pot.1_Missense_Mutation_p.D580H NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 682 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AAAATCAGGTCCCGAATTGCT 0.458 NA 28 108 0 0 0.007291 0 0 TROVE2 6738 broad.mit.edu 37 1 193051691 193051691 + Splice_Site SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:193051691G>C uc001gss.2 + 8 1493 c.1318_splice c.e8-1 p.I440_splice TROVE2_uc001gst.1_Splice_Site_p.I165_splice|TROVE2_uc001gsu.1_Splice_Site_p.I165_splice|TROVE2_uc001gsv.1_Splice_Site_p.I440_splice|TROVE2_uc001gsw.2_Splice_Site_p.I440_splice|TROVE2_uc009wyp.2_Splice_Site_p.I440_splice|TROVE2_uc009wyq.2_Splice_Site_p.I440_splice|TROVE2_uc001gsx.1_Splice_Site_p.I440_splice NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 TTCCGAATTAGATCCCAGCAG 0.363 NA 40 21 0 0 0.005524 0 0 CRB1 23418 broad.mit.edu 37 1 197396716 197396716 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:197396716C>A uc001gtz.2 + 7 2396 c.2261C>A c.(2260-2262)GCT>GAT p.A754D CRB1_uc010poz.1_Missense_Mutation_p.A685D|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A642D|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.A235D|CRB1_uc001gub.1_Missense_Mutation_p.A403D NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 754 Extracellular (Potential).|Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TTACTTCTAGCTTTGGAAAAC 0.438 NA 12 59 5.50884e-06 6.2168e-06 0.001368 1 0 ZP4 57829 broad.mit.edu 37 1 238048146 238048146 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:238048146A>T uc001hym.2 - 10 1313 c.1313T>A c.(1312-1314)GTG>GAG p.V438E LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 438 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) GTGCAGATGCACCTGGGAGCC 0.512 NSCLC(166;160 2029 11600 18754 19936) NA 4 32 0 0 0.000602 0 0 OR2G3 81469 broad.mit.edu 37 1 247769300 247769300 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:247769300C>T uc010pyz.1 + 1 413 c.413C>T c.(412-414)CCA>CTA p.P138L NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATCATGAACCCACGGCTTTGC 0.512 NA 147 97 0 0 0.00361 0 0 OR2T33 391195 broad.mit.edu 37 1 248436974 248436975 + Missense_Mutation DNP TG TG GA rs150221634 byFrequency TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:248436974_248436975TG>GA uc010pzi.1 - 1 142_143 c.142_143CA>TC c.(142-144)CAC>TCC p.H48S NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|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;0.0245) GTGGTCCCAGTGAATCAGGAGA 0.52 NA 95 65 0 0 0.004672 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832238 24832238 + Missense_Mutation SNP C C G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr10:24832238C>G uc001iru.3 + 19 4442 c.4039C>G c.(4039-4041)CAA>GAA p.Q1347E KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.Q1030E|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.Q183E NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1347 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AGATTTTGGCCAAGTTGTTCT 0.433 NA 50 84 0 0 0.00361 0 0 PCDH15 65217 broad.mit.edu 37 10 55755478 55755478 + Silent SNP C C A rs139853291 byFrequency TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr10:55755478C>A uc001jju.1 - 21 3194 c.2799G>T c.(2797-2799)GGG>GGT p.G933G PCDH15_uc010qhq.1_Silent_p.G938G|PCDH15_uc010qhr.1_Silent_p.G933G|PCDH15_uc010qhs.1_Silent_p.G945G|PCDH15_uc010qht.1_Silent_p.G940G|PCDH15_uc010qhu.1_Silent_p.G933G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.G933G|PCDH15_uc010qhw.1_Silent_p.G896G|PCDH15_uc010qhx.1_Silent_p.G862G|PCDH15_uc010qhy.1_Silent_p.G938G|PCDH15_uc010qhz.1_Silent_p.G933G|PCDH15_uc010qia.1_Silent_p.G911G|PCDH15_uc010qib.1_Silent_p.G911G|PCDH15_uc001jjw.2_Silent_p.G933G NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 933 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GAGCCACCATCCCTTTGTATA 0.393 NA HNSCC(58;0.16) 25 30 8.24728e-16 1.23271e-15 0.004656 1 0 KCNMA1 3778 broad.mit.edu 37 10 78771774 78771774 + Silent SNP A A G rs146803262 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr10:78771774A>G uc001jxn.2 - 18 2220 c.2043T>C c.(2041-2043)CAT>CAC p.H681H KCNMA1_uc001jxj.2_Silent_p.H685H|KCNMA1_uc001jxk.1_Silent_p.H296H|KCNMA1_uc009xrt.1_Silent_p.H501H|KCNMA1_uc001jxl.1_Silent_p.H335H|KCNMA1_uc001jxo.2_Silent_p.H681H|KCNMA1_uc001jxm.2_Silent_p.H681H|KCNMA1_uc001jxq.2_Silent_p.H681H NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 681 Heme-binding motif.|Cytoplasmic (Potential). H->R: Loss of heme-induced channel inhibition. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TGATGTCATCATGACAGGCCT 0.428 NA 35 61 0 0 0.003755 0 0 CDHR1 92211 broad.mit.edu 37 10 85961609 85961609 + Missense_Mutation SNP G G C rs142631189 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr10:85961609G>C uc001kcv.2 + 7 572 c.572G>C c.(571-573)CGC>CCC p.R191P CDHR1_uc001kcw.2_Missense_Mutation_p.R191P|CDHR1_uc009xst.2_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 191 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 GGTGTGCTGCGCCTCCAGGCT 0.622 NA 11 22 0 0 0.010729 0 0 ATRNL1 26033 broad.mit.edu 37 10 117185778 117185778 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr10:117185778C>T uc001lcg.2 + 21 3674 c.3288C>T c.(3286-3288)CGC>CGT p.R1096R ATRNL1_uc010qsm.1_Silent_p.R225R|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1096 Laminin EGF-like 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTGAAAATCGCTATGTTGGTA 0.284 NA 45 74 0 0 0.00361 0 0 DMBT1 1755 broad.mit.edu 37 10 124336238 124336238 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr10:124336238G>A uc001lgk.1 + 7 713 c.607G>A c.(607-609)GCT>ACT p.A203T DMBT1_uc001lgl.1_Missense_Mutation_p.A203T|DMBT1_uc001lgm.1_Missense_Mutation_p.A203T|DMBT1_uc009xzz.1_Missense_Mutation_p.A203T|DMBT1_uc010qtx.1_Missense_Mutation_p.A203T|DMBT1_uc009yaa.1_Missense_Mutation_p.A55T NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 203 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) TATCTGCTCAGGTAGGCATCC 0.348 Ovarian(182;93 2026 18125 22222 38972) NA 32 52 0 0 0.008361 0 0 OR51E2 81285 broad.mit.edu 37 11 4703755 4703755 + Missense_Mutation SNP A A C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:4703755A>C uc001lzk.2 - 2 431 c.187T>G c.(187-189)TGC>GGC p.C63G NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GCAAGCATGCAGAGAAAGAGG 0.507 NA 22 56 0 0 0.00278 0 0 OR51G2 81282 broad.mit.edu 37 11 4936863 4936863 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:4936863T>A uc001lzr.1 - 1 31 c.31A>T c.(31-33)AGC>TGC p.S11C NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAACGCTGCTGCTGCTGTTT 0.542 NA 17 47 0 0 0.006122 0 0 OR56A3 390083 broad.mit.edu 37 11 5968810 5968810 + Nonsense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:5968810C>A uc010qzt.1 + 1 234 c.234C>A c.(232-234)TGC>TGA p.C78* NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGTGCTCTGCCTCACTGTCA 0.572 NA 78 127 1.15098e-32 2.11388e-32 0.00361 1 0 PTH 5741 broad.mit.edu 37 11 13514029 13514029 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:13514029C>A uc001mlb.2 - 3 386 c.271G>T c.(271-273)GTT>TTT p.V91F NM_000315 NP_000306 P01270 PTHY_HUMAN parathyroid hormone preproprotein 91 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) TGGCTCTCAACCAAGACATTG 0.443 NA 36 133 3.76114e-14 5.36487e-14 0.004289 1 0 C11orf74 119710 broad.mit.edu 37 11 36669581 36669581 + Missense_Mutation SNP C C G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:36669581C>G uc001mwy.1 + 5 447 c.374C>G c.(373-375)CCA>CGA p.P125R C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.P51R|C11orf74_uc001mwx.1_RNA|C11orf74_uc001mwz.1_Missense_Mutation_p.P51R|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 125 0 all_lung(20;0.226) all_hematologic(20;0.0118) CTGCTGCTTCCAGGAGAAGTG 0.443 NA 59 156 0 0 0.00361 0 0 C11orf74 119710 broad.mit.edu 37 11 36669586 36669586 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:36669586G>A uc001mwy.1 + 5 452 c.379G>A c.(379-381)GAA>AAA p.E127K C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Missense_Mutation_p.E53K|C11orf74_uc001mwx.1_RNA|C11orf74_uc001mwz.1_Missense_Mutation_p.E53K|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 127 0 all_lung(20;0.226) all_hematologic(20;0.0118) GCTTCCAGGAGAAGTGGAGCA 0.443 NA 59 157 0 0 0.00361 0 0 DGKZ 8525 broad.mit.edu 37 11 46388906 46388906 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:46388906G>T uc001ncn.1 + 3 919 c.794G>T c.(793-795)TGC>TTC p.C265F DGKZ_uc001nch.1_Missense_Mutation_p.C93F|DGKZ_uc010rgq.1_Missense_Mutation_p.C42F|DGKZ_uc001ncj.1_Missense_Mutation_p.C42F|DGKZ_uc010rgr.1_Missense_Mutation_p.C42F|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.C76F|DGKZ_uc001ncm.2_Missense_Mutation_p.C76F|DGKZ_uc009yky.1_Missense_Mutation_p.C76F|DGKZ_uc010rgs.1_Missense_Mutation_p.C76F|DGKZ_uc001nci.1_Missense_Mutation_p.C42F NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 265 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) GGGGCCCCGTGCAGCGAGTCA 0.672 NA 20 36 1.40151e-16 2.11733e-16 0.010504 1 0 OR5L2 26338 broad.mit.edu 37 11 55595361 55595361 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:55595361A>G uc001nhy.1 + 1 667 c.667A>G c.(667-669)ACC>GCC p.T223A NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GCTAATTCTCACCACTATCCT 0.498 NA HNSCC(27;0.073) 52 91 0 0 0.00361 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653690 55653690 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:55653690G>T uc010rip.1 + 3 595 c.503G>T c.(502-504)TGG>TTG p.W168L SPRYD5_uc010riq.1_Missense_Mutation_p.W25L NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 168 intracellular zinc ion binding 0 all_epithelial(135;0.226) ACCAGATGCTGGAAGGTTAGT 0.398 NA 30 41 8.4185e-14 1.1828e-13 0.012213 1 0 OR5W2 390148 broad.mit.edu 37 11 55681357 55681357 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:55681357C>A uc010rir.1 - 1 702 c.702G>T c.(700-702)AGG>AGT p.R234S NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGCTTTGAACCTCCCCTCAG 0.418 Melanoma(48;171 1190 15239 43886 49348) NA 37 55 6.53348e-20 1.01995e-19 0.003755 1 0 B3GAT3 26229 broad.mit.edu 37 11 62384573 62384573 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:62384573G>T uc001ntw.2 - 3 533 c.504C>A c.(502-504)CTC>CTA p.L168L B3GAT3_uc009ynz.2_Silent_p.L161L|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Silent_p.L168L NM_012200 NP_036332 O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 168 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding 0 CTCTGCCCCGGAGCCAGTCCA 0.662 NA 38 56 3.21399e-22 5.16076e-22 0.004878 1 0 SNX15 29907 broad.mit.edu 37 11 64806226 64806226 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:64806226G>A uc001oci.3 + 10 1500 c.847G>A c.(847-849)GAG>AAG p.E283K SNX15_uc009ypy.2_Missense_Mutation_p.E283K|SNX15_uc001ocj.2_Missense_Mutation_p.E283K|SNX15_uc001ock.2_Intron|SAC3D1_uc010rnv.1_5'Flank|SAC3D1_uc001ocm.2_5'Flank NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 283 MIT. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 CCTGCGGGATGAGAAGGCAGG 0.652 Esophageal Squamous(56;269 1304 3324 8253) NA 9 9 0 0 0.004482 0 0 MTL5 9633 broad.mit.edu 37 11 68514791 68514791 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:68514791G>T uc001ooc.2 - 3 655 c.515C>A c.(514-516)CCG>CAG p.P172Q MTL5_uc001ood.1_Missense_Mutation_p.P172Q|MTL5_uc009ysi.1_Missense_Mutation_p.P172Q|MTL5_uc001ooe.2_Missense_Mutation_p.P172Q NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 172 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGCTTCTTCCGGATTATTACT 0.423 NA 4 63 0.00909568 0.00983033 0.009096 1 0 FOLR3 2352 broad.mit.edu 37 11 71847143 71847143 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:71847143C>A uc001ory.1 + 2 195 c.145C>A c.(145-147)CCC>ACC p.P49T FOLR3_uc001orx.1_Missense_Mutation_p.P49T P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; 47 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) ACAGCCCAGCCCCGAGGACGA 0.642 NA 62 114 5.98616e-33 1.11398e-32 0.00361 1 0 PPME1 51400 broad.mit.edu 37 11 73950231 73950231 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:73950231T>A uc001ouw.2 + 9 863 c.764T>A c.(763-765)ATA>AAA p.I255K PPME1_uc009yty.2_Missense_Mutation_p.I125K|PPME1_uc001oux.2_Missense_Mutation_p.I68K NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 255 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) GAAGGAATCATAGAGGAAGAA 0.368 NA 18 36 0 0 0.007413 0 0 ENDOD1 23052 broad.mit.edu 37 11 94861876 94861876 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:94861876A>T uc001pfh.2 + 2 711 c.636A>T c.(634-636)AAA>AAT p.K212N NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 212 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TTAAAGACAAAGTGGCAGTCC 0.557 NA 22 31 0 0 0.012319 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103091378 103091378 + Silent SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:103091378A>T uc001pho.2 + 57 9117 c.8973A>T c.(8971-8973)GCA>GCT p.A2991A DYNC2H1_uc001phn.1_Silent_p.A2991A|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2991 Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTAAACTAGCAGTTGGAAACA 0.323 NA 64 91 0 0 0.00361 0 0 CASP5 838 broad.mit.edu 37 11 104879698 104879698 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:104879698C>T uc010rva.1 - 2 49 c.17G>A c.(16-18)GGC>GAC p.G6D CASP5_uc010ruz.1_Missense_Mutation_p.G19D|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 6 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTTTTTTTTGCCACTGTCTTC 0.388 NA 15 39 0 0 0.006122 0 0 BLID 414899 broad.mit.edu 37 11 121986432 121986432 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr11:121986432G>T uc001pyf.2 - 1 492 c.199C>A c.(199-201)CTT>ATT p.L67I LOC399959_uc009zba.2_Intron NM_001001786 NP_001001786 Q8IZY5 BLID_HUMAN BRCC2 protein 67 apoptosis mitochondrion 0 Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101) TACCTTTTAAGAGAAAGCACT 0.463 NA OREG0021435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 55 2.5377e-55 5.28217e-55 0.00361 1 0 CACNA1C 775 broad.mit.edu 37 12 2721098 2721098 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:2721098C>A uc009zdu.1 + 30 4120 c.3807C>A c.(3805-3807)ATC>ATA p.I1269I CACNA1C_uc009zdv.1_Silent_p.I1246I|CACNA1C_uc001qkb.2_Silent_p.I1249I|CACNA1C_uc001qkc.2_Silent_p.I1249I|CACNA1C_uc001qke.2_Silent_p.I1249I|CACNA1C_uc001qkf.2_Silent_p.I1249I|CACNA1C_uc001qjz.2_Silent_p.I1249I|CACNA1C_uc001qkd.2_Silent_p.I1249I|CACNA1C_uc001qkg.2_Silent_p.I1249I|CACNA1C_uc009zdw.1_Silent_p.I1249I|CACNA1C_uc001qkh.2_Silent_p.I1249I|CACNA1C_uc001qkl.2_Silent_p.I1269I|CACNA1C_uc001qkn.2_Silent_p.I1249I|CACNA1C_uc001qko.2_Silent_p.I1269I|CACNA1C_uc001qkp.2_Silent_p.I1249I|CACNA1C_uc001qkr.2_Silent_p.I1249I|CACNA1C_uc001qku.2_Silent_p.I1249I|CACNA1C_uc001qkq.2_Silent_p.I1249I|CACNA1C_uc001qks.2_Silent_p.I1249I|CACNA1C_uc001qkt.2_Silent_p.I1249I|CACNA1C_uc001qka.1_Silent_p.I784I|CACNA1C_uc001qki.1_Silent_p.I985I|CACNA1C_uc001qkj.1_Silent_p.I985I|CACNA1C_uc001qkk.1_Silent_p.I985I|CACNA1C_uc001qkm.1_Silent_p.I985I NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1269 IV.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGTTCAAAATCGCCATGAACA 0.562 NA 39 41 1.59361e-14 2.30827e-14 0.006999 1 0 VWF 7450 broad.mit.edu 37 12 6085306 6085306 + Nonsense_Mutation SNP G G A rs61751288 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:6085306G>A uc001qnn.1 - 43 7658 c.7408C>T c.(7408-7410)CAG>TAG p.Q2470* VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2470 VWFC 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CAGGGCTTCTGGGAGCACTGG 0.637 NA 18 80 0 0 0.006122 0 0 VWF 7450 broad.mit.edu 37 12 6085325 6085325 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:6085325G>A uc001qnn.1 - 43 7639 c.7389C>T c.(7387-7389)CTC>CTT p.L2463L VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2463 VWFC 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGGCCACGCGGAGGCCCATCA 0.642 NA 17 83 0 0 0.006122 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984358 7984358 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:7984358G>T uc001qtk.2 - 9 976 c.183C>A c.(181-183)ATC>ATA p.I61I SLC2A14_uc001qtl.2_Silent_p.I38I|SLC2A14_uc001qtm.2_Silent_p.I38I|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.I61I|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.I76I NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 61 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) ATTCCTTTATGATCTGCAAAA 0.333 NA OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 58 3.52763e-06 4.06256e-06 0.00499 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 9 4.7546e-09 5.96448e-09 0.004007 1 0 TMTC1 83857 broad.mit.edu 37 12 29908673 29908673 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:29908673G>T uc001rjb.2 - 4 850 c.376C>A c.(376-378)CTC>ATC p.L126I TMTC1_uc001rjc.1_Missense_Mutation_p.L126I NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 234 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AGGGAAAAGAGGTCATAAACC 0.433 NA 46 13 3.21987e-24 5.32226e-24 0.00361 1 0 KRT85 3891 broad.mit.edu 37 12 52756686 52756686 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:52756686G>A uc001sag.2 - 6 1149 c.1029C>T c.(1027-1029)AAC>AAT p.N343N NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 343 Rod.|Coil 2. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GGATCATGCGGTTCAGCTCGT 0.582 NA 96 34 0 0 0.00361 0 0 GRIP1 23426 broad.mit.edu 37 12 66765685 66765685 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:66765685G>T uc001stk.2 - 22 2886 c.2645C>A c.(2644-2646)ACG>AAG p.T882K GRIP1_uc010sta.1_Missense_Mutation_p.T826K|GRIP1_uc001stj.2_Missense_Mutation_p.T649K|GRIP1_uc001stl.1_Missense_Mutation_p.T759K|GRIP1_uc001stm.2_Missense_Mutation_p.T867K NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 934 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CAAACTCATCGTGCTCCCCGA 0.512 NA 84 30 8.2577e-42 1.63409e-41 0.00361 1 0 NAV3 89795 broad.mit.edu 37 12 78574707 78574707 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:78574707C>A uc001syp.2 + 30 5747 c.5574C>A c.(5572-5574)AAC>AAA p.N1858K NAV3_uc001syo.2_Missense_Mutation_p.N1836K|NAV3_uc010sub.1_Missense_Mutation_p.N1315K|NAV3_uc009zsf.2_Missense_Mutation_p.N667K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1858 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAACTGGTAACACAGCTAAGC 0.408 NA HNSCC(70;0.22) 62 12 2.40265e-35 4.56179e-35 0.00361 1 0 STAB2 55576 broad.mit.edu 37 12 104030904 104030904 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:104030904C>T uc001tjw.2 + 7 785 c.599C>T c.(598-600)GCA>GTA p.A200V NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 200 Extracellular (Potential).|EGF-like 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCTGAATGTGCAGCCTTGCTC 0.428 NA 132 40 0 0 0.00361 0 0 NUAK1 9891 broad.mit.edu 37 12 106477704 106477704 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:106477704C>A uc001tlj.1 - 4 1897 c.517G>T c.(517-519)GGT>TGT p.G173C NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 173 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TGGACCACACCGTTCTGAAAT 0.488 NA 110 24 1.89039e-43 3.79428e-43 0.00361 1 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678663 37678663 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr13:37678663G>T uc001uwm.1 - 1 1139 c.731C>A c.(730-732)CCT>CAT p.P244H NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 244 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AACTTCAACAGGGGTGGACAT 0.418 NA 45 28 1.76056e-25 2.98022e-25 0.011902 1 0 ENOX1 55068 broad.mit.edu 37 13 43930154 43930154 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr13:43930154G>T uc001uza.3 - 8 1024 c.724C>A c.(724-726)CGG>AGG p.R242R ENOX1_uc001uzb.3_Silent_p.R242R|ENOX1_uc001uzc.3_Silent_p.R242R|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Silent_p.R55R NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 242 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) AGCTTGCGCCGGTGCCGCTCC 0.617 NA 74 32 6.00099e-30 1.08095e-29 0.00361 1 0 RB1 5925 broad.mit.edu 37 13 49039189 49039189 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr13:49039189A>G uc001vcb.2 + 22 2433 c.2267A>G c.(2266-2268)TAT>TGT p.Y756C NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 756 Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8)|p.Y756*(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATAGTATTCTATAACTCGGTC 0.299 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 22 47 0 0 0.003954 0 0 MYCBP2 23077 broad.mit.edu 37 13 77631213 77631213 + Missense_Mutation SNP T T C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr13:77631213T>C uc001vkf.2 - 80 13322 c.13231A>G c.(13231-13233)ATA>GTA p.I4411V MYCBP2_uc010aev.2_Missense_Mutation_p.I3815V|MYCBP2_uc001vke.2_Missense_Mutation_p.I1028V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4411 RING-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAGTGGAATATGTGACTACAA 0.363 NA 39 87 0 0 0.00623 0 0 JPH4 84502 broad.mit.edu 37 14 24045665 24045665 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:24045665C>T uc001wkq.2 - 4 1298 c.380G>A c.(379-381)GGC>GAC p.G127D JPH4_uc001wkr.2_Missense_Mutation_p.G127D|JPH4_uc001wks.2_Missense_Mutation_p.G127D NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 127 Cytoplasmic (Potential).|MORN 4. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CTGGTAGGTGCCTGCGGGCGG 0.731 NA 3 5 0 0 0.004672 0 0 LTB4R 1241 broad.mit.edu 37 14 24785218 24785218 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:24785218C>A uc001wos.2 + 2 682 c.361C>A c.(361-363)CGC>AGC p.R121S LTB4R_uc010alp.2_Missense_Mutation_p.R121S|LTB4R_uc001wou.2_Missense_Mutation_p.R121S NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 121 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) GGCGGTGGCCCGCCCCTTTGT 0.642 NA 15 33 3.45872e-05 3.85674e-05 0.004007 1 0 CLEC14A 161198 broad.mit.edu 37 14 38724679 38724679 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:38724679G>A uc001wum.1 - 1 896 c.549C>T c.(547-549)CGC>CGT p.R183R NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 183 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) cggccccggggcgcggcgcAG 0.562 NA 37 53 0 0 0.010771 0 0 MIA2 117153 broad.mit.edu 37 14 39717248 39717248 + Silent SNP T T C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:39717248T>C uc001wux.2 + 4 1664 c.1470T>C c.(1468-1470)AAT>AAC p.N490N MIA2_uc010amy.1_Silent_p.N421N NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 490 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATCAAAATAATGTAATTGAAA 0.313 NA 55 86 0 0 0.00361 0 0 TBPL2 387332 broad.mit.edu 37 14 55907125 55907125 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:55907125A>T uc001xby.2 - 1 139 c.139T>A c.(139-141)TGC>AGC p.C47S NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 47 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 TGAGCGGCGCACTGGTCCAGG 0.502 NA 31 55 0 0 0.010818 0 0 SYT16 83851 broad.mit.edu 37 14 62547784 62547784 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:62547784G>T uc001xfu.1 + 4 1423 c.1226G>T c.(1225-1227)GGG>GTG p.G409V SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 409 C2 1. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATACAGAGAGGGCCCAACCCC 0.592 NA 17 18 3.52763e-06 4.06256e-06 0.00499 1 0 ADAM20 8748 broad.mit.edu 37 14 70990220 70990220 + Nonsense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:70990220C>A uc001xme.2 - 2 1650 c.1405G>T c.(1405-1407)GAG>TAG p.E469* NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 419 Disintegrin.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TCACATTCCTCCCCTTCTTCA 0.443 NA 74 152 3.89499e-28 6.84057e-28 0.00361 1 0 C14orf115 55237 broad.mit.edu 37 14 74824273 74824273 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:74824273C>A uc001xpw.3 + 2 978 c.787C>A c.(787-789)CCA>ACA p.P263T NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 263 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AGCCCTGGCCCCACTCTCATC 0.632 NA 22 30 2.39556e-15 3.50601e-15 0.00278 1 0 CALM1 801 broad.mit.edu 37 14 90870237 90870237 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:90870237G>T uc001xyl.1 + 4 412 c.210G>T c.(208-210)TTG>TTT p.L70F CALM1_uc010atq.1_Missense_Mutation_p.L71F|CALM1_uc010atr.1_Intron|CALM1_uc001xym.1_Missense_Mutation_p.L34F NM_006888 NP_008819 P62158 CALM_HUMAN calmodulin 1 isoform 1 70 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding central_nervous_system(1) 1 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) CCGAATTTTTGACTATGATGG 0.383 NA 12 27 2.80697e-09 3.53704e-09 0.010729 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030231 95030231 + Missense_Mutation SNP C C G rs140563422 byFrequency TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr14:95030231C>G uc001ydk.2 + 2 478 c.412C>G c.(412-414)CGC>GGC p.R138G SERPINA4_uc010avd.2_Missense_Mutation_p.R175G|SERPINA4_uc001ydl.2_Missense_Mutation_p.R138G NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 138 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GCTGGAAACACGCGTGGGCAG 0.562 NA 36 66 0 0 0.004289 0 0 FMN1 342184 broad.mit.edu 37 15 33091096 33091096 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr15:33091096T>A uc001zhf.3 - 15 3370 c.3370A>T c.(3370-3372)ACA>TCA p.T1124S NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1347 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TAGCTGGGTGTGATCTCCTTC 0.428 NA 13 23 0 0 0.001855 0 0 PLCB2 5330 broad.mit.edu 37 15 40594168 40594168 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr15:40594168G>A uc001zld.2 - 7 873 c.572C>T c.(571-573)CCC>CTC p.P191L PLCB2_uc010bbo.2_Missense_Mutation_p.P191L|PLCB2_uc010ucm.1_Missense_Mutation_p.P191L|PLCB2_uc001zle.3_Missense_Mutation_p.P191L NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 191 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TTTGCCTTTGGGGAGGTGGCA 0.582 NA 23 39 0 0 0.004656 0 0 UNC13C 440279 broad.mit.edu 37 15 54305977 54305977 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr15:54305977A>T uc002ack.2 + 1 877 c.877A>T c.(877-879)ACA>TCA p.T293S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 293 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCAGTTGCGCACAGGGTTTGT 0.453 NA 62 135 0 0 0.00361 0 0 BNC1 646 broad.mit.edu 37 15 83926424 83926424 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr15:83926424G>T uc002bjt.1 - 5 2843 c.2755C>A c.(2755-2757)CTT>ATT p.L919I BNC1_uc010uos.1_Missense_Mutation_p.L907I NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 919 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AGGCTAGCAAGGCTCTGGTCA 0.527 NA 82 185 1.84514e-49 3.73011e-49 0.00361 1 0 XYLT1 64131 broad.mit.edu 37 16 17211799 17211799 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:17211799C>T uc002dfa.2 - 11 2346 c.2261G>A c.(2260-2262)CGC>CAC p.R754H NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 754 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCCAAAGTTGCGGAATAGCCT 0.572 NA 17 23 0 0 0.012319 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942256 24942256 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:24942256C>T uc002dnb.2 - 19 2457 c.2364G>A c.(2362-2364)CAG>CAA p.Q788Q ARHGAP17_uc002dmx.2_Silent_p.Q50Q|ARHGAP17_uc002dmw.2_Silent_p.Q50Q|ARHGAP17_uc002dmy.2_Silent_p.Q233Q|ARHGAP17_uc002dmz.2_Silent_p.Q312Q|ARHGAP17_uc002dna.2_Silent_p.Q515Q|ARHGAP17_uc002dnc.2_Silent_p.Q710Q|ARHGAP17_uc010vcf.1_Silent_p.Q531Q|ARHGAP17_uc002dne.1_Silent_p.Q50Q NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 788 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CAGCATGTGGCTGTGCAGTTT 0.632 NA 26 98 0 0 0.00333 0 0 TAOK2 9344 broad.mit.edu 37 16 29998953 29998953 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:29998953G>A uc002dva.1 + 16 4143 c.3360G>A c.(3358-3360)AAG>AAA p.K1120K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.K1127K|TAOK2_uc002dvd.1_Silent_p.K947K NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 1120 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 AAACCAACAAGGATGGCTTCC 0.667 NA 27 98 0 0 0.005443 0 0 ITGAM 3684 broad.mit.edu 37 16 31284711 31284711 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:31284711G>A uc002ebq.2 + 8 828 c.730G>A c.(730-732)GGA>AGA p.G244R ITGAM_uc002ebr.2_Missense_Mutation_p.G244R|ITGAM_uc010cam.1_5'Flank NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 244 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CATCACCAACGGAGCCCGAAA 0.423 NA 54 65 0 0 0.00361 0 0 ITGAX 3687 broad.mit.edu 37 16 31388320 31388320 + Splice_Site SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:31388320G>T uc002ebu.1 + 22 2693 c.2626_splice c.e22-1 p.I876_splice ITGAX_uc002ebt.2_Splice_Site_p.I876_splice NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTTTTCCTCAGATCACCTTCT 0.622 NA 16 81 1.5739e-10 2.04752e-10 0.004007 1 0 ABCC11 85320 broad.mit.edu 37 16 48210987 48210987 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:48210987G>A uc002eff.1 - 24 3736 c.3386C>T c.(3385-3387)ACA>ATA p.T1129I ABCC11_uc002efg.1_Missense_Mutation_p.T1129I|ABCC11_uc002efh.1_Missense_Mutation_p.T1129I|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1129 Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGGACAACTTGTGCCTTCCAT 0.463 NA Cerumen_Type 24 15 0 0 0.004656 0 0 SALL1 6299 broad.mit.edu 37 16 51174869 51174869 + Silent SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:51174869A>G uc010vgs.1 - 2 1295 c.1264T>C c.(1264-1266)TTG>CTG p.L422L SALL1_uc010vgr.1_Silent_p.L325L|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 422 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGCTGGGCCAAGGCAGACAAG 0.493 GBM(103;1352 1446 1855 4775 8890) NA 93 92 0 0 0.00361 0 0 C16orf48 84080 broad.mit.edu 37 16 67698948 67698948 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:67698948C>T uc002etw.1 - 3 687 c.404G>A c.(403-405)CGC>CAC p.R135H C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Missense_Mutation_p.R135H|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank NM_032140 NP_115516 Q9H0I2 CP048_HUMAN hypothetical protein LOC84080 135 microtubule cytoskeleton protein binding 0 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTTGGGTGAGCGCCACAGAGC 0.597 NA 43 130 0 0 0.00874 0 0 DHX38 9785 broad.mit.edu 37 16 72141383 72141383 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:72141383C>T uc002fcb.2 + 20 3100 c.2745C>T c.(2743-2745)CCC>CCT p.P915P DHX38_uc010vmp.1_Silent_p.P227P NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 915 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) TGGACCCGCCCCCGGAGGACA 0.637 Melanoma(97;711 1442 7855 13832 28836) NA 20 25 0 0 0.008871 0 0 CHST5 23563 broad.mit.edu 37 16 75563159 75563159 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:75563159A>G uc002fei.2 - 3 2519 c.1124T>C c.(1123-1125)CTG>CCG p.L375P CHST5_uc002fej.1_Missense_Mutation_p.L381P NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 375 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CAGCAGCTGCAGCGCGCCGGC 0.657 NA 23 22 0 0 0.003954 0 0 PKD1L2 114780 broad.mit.edu 37 16 81228608 81228608 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:81228608C>A uc002fgh.1 - 8 1566 c.1566G>T c.(1564-1566)CTG>CTT p.L522L PKD1L2_uc002fgj.2_Silent_p.L522L NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 522 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CATTCCTCACCAGCATGGTGA 0.473 NA 13 53 4.93089e-13 6.75893e-13 0.00245 1 0 PKD1L2 114780 broad.mit.edu 37 16 81253859 81253859 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:81253859G>A uc002fgh.1 - 1 117 c.117C>T c.(115-117)TGC>TGT p.C39C PKD1L2_uc002fgj.2_Silent_p.C39C NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 39 Extracellular (Potential).|C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAAATTCATAGCAAGCATCTC 0.562 NA 49 41 0 0 0.00361 0 0 LRRC50 123872 broad.mit.edu 37 16 84199428 84199428 + Silent SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:84199428T>A uc002fhl.3 + 7 1084 c.903T>A c.(901-903)GCT>GCA p.A301A LRRC50_uc010vnw.1_Silent_p.A49A NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 301 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 GGTACGCAGCTGAAAAGGAGG 0.517 NA Kartagener_syndrome 57 73 0 0 0.00361 0 0 FOXF1 2294 broad.mit.edu 37 16 86545096 86545096 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:86545096C>T uc002fjl.2 + 1 964 c.921C>T c.(919-921)CAC>CAT p.H307H uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 307 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 TCTCCACGCACTCCCTGGAGC 0.692 NA 6 9 0 0 0.001168 0 0 SPG7 6687 broad.mit.edu 37 16 89592826 89592826 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr16:89592826G>T uc002fnj.2 + 5 729 c.708G>T c.(706-708)GAG>GAT p.E236D SPG7_uc002fni.2_Missense_Mutation_p.E236D NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 236 Mitochondrial intermembrane (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TGAATATCGAGGCCAAGGACA 0.458 NA 50 61 2.29192e-23 3.72271e-23 0.00361 1 0 PLD2 5338 broad.mit.edu 37 17 4713204 4713204 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:4713204A>G uc002fzc.2 + 9 841 c.740A>G c.(739-741)TAC>TGC p.Y247C PLD2_uc010vsj.1_Missense_Mutation_p.Y104C|PLD2_uc002fzd.2_Missense_Mutation_p.Y247C NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 247 PH. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) TTCCTGCTGTACATGTGCCTC 0.572 NA 85 48 0 0 0.00361 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C C A rs55863639 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 36 18 2.52637e-11 3.33291e-11 0.005524 1 0 MYH4 4622 broad.mit.edu 37 17 10363568 10363568 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:10363568T>A uc002gmn.2 - 13 1329 c.1218A>T c.(1216-1218)AGA>AGT p.R406S uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 406 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CGACCTTGACTCTGGGATAGC 0.453 NA 66 59 0 0 0.00361 0 0 TOP2A 7153 broad.mit.edu 37 17 38560655 38560655 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:38560655T>A uc002huq.2 - 18 2261 c.2135A>T c.(2134-2136)GAG>GTG p.E712V NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 712 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GATAGATCTCTCGTTATCAGA 0.343 NA 40 74 0 0 0.006999 0 0 KRT24 192666 broad.mit.edu 37 17 38859882 38859882 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:38859882C>A uc002hvd.2 - 1 121 c.64G>T c.(64-66)GCT>TCT p.A22S NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 22 Head.|Gly-rich. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) CTTCCACCAGCAGACACCCTG 0.642 GBM(61;380 1051 14702 23642 31441) NA 26 29 2.4375e-19 3.78418e-19 0.007291 1 0 KRT17 3872 broad.mit.edu 37 17 39778674 39778674 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:39778674G>T uc002hxh.2 - 3 726 c.605C>A c.(604-606)GCC>GAC p.A202D JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 202 Coil 1B.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) CTCCAGGTCGGCTCTGGCCAG 0.607 Pancreas(92;1242 2086 39193 50508) NA Steatocystoma_Multiplex 57 109 1.80625e-27 3.13307e-27 0.00361 1 0 GNGT2 2793 broad.mit.edu 37 17 47284772 47284772 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:47284772G>T uc002ioo.1 - 3 320 c.13C>A c.(13-15)CTC>ATC p.L5I ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank NM_031498 NP_113686 O14610 GBGT2_HUMAN guanine nucleotide binding protein-gamma 5 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TTCTCGCTGAGATCCTGGGCC 0.537 NA 116 176 1.71345e-61 3.59313e-61 0.00361 1 0 EPX 8288 broad.mit.edu 37 17 56277675 56277675 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:56277675C>A uc002ivq.2 + 10 1713 c.1627C>A c.(1627-1629)CGG>AGG p.R543R NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 543 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 GCTCCGGGACCGGCTGTTTCG 0.647 NA OREG0024608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 68 3.77016e-25 6.30604e-25 0.013114 1 0 TBX4 9496 broad.mit.edu 37 17 59560748 59560748 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:59560748G>A uc002izi.2 + 8 1554 c.1509G>A c.(1507-1509)AGG>AGA p.R503R TBX4_uc010ddo.2_Silent_p.R504R|TBX4_uc010woy.1_Silent_p.R504R NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 503 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GGTGTGAGAGGAAGCCACCCT 0.547 NA 28 42 0 0 0.00632 0 0 BRIP1 83990 broad.mit.edu 37 17 59937249 59937249 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:59937249C>A uc002izk.1 - 3 254 c.113G>T c.(112-114)AGC>ATC p.S38I NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 38 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ATGTTGCTTGCTGTTTAATCC 0.353 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 26 43 4.7796e-09 5.96919e-09 0.004656 1 0 MAP3K3 4215 broad.mit.edu 37 17 61767648 61767648 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:61767648G>T uc002jbg.2 + 12 1407 c.1088G>T c.(1087-1089)CGC>CTC p.R363L MAP3K3_uc002jbe.2_Missense_Mutation_p.R394L|MAP3K3_uc002jbf.2_Missense_Mutation_p.R394L|MAP3K3_uc002jbh.2_Missense_Mutation_p.R390L|MAP3K3_uc010wpo.1_Missense_Mutation_p.R278L|MAP3K3_uc010wpp.1_Missense_Mutation_p.R359L NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 363 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 ATCAACTGGCGCCGGGGAAAG 0.517 NA 55 90 8.28887e-21 1.32339e-20 0.00361 1 0 UBE2O 63893 broad.mit.edu 37 17 74392671 74392671 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:74392671C>A uc002jrm.3 - 14 2412 c.2347G>T c.(2347-2349)GCT>TCT p.A783S UBE2O_uc002jrn.3_Missense_Mutation_p.A783S|UBE2O_uc002jrl.3_Missense_Mutation_p.A387S NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 783 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TGGACGGCAGCTGTGGCTGCC 0.662 NA 72 122 2.48295e-43 4.94829e-43 0.00361 1 0 RPTOR 57521 broad.mit.edu 37 17 78681705 78681705 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:78681705G>T uc002jyt.1 + 4 1218 c.413G>T c.(412-414)CGT>CTT p.R138L RPTOR_uc002jys.2_Missense_Mutation_p.R138L|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.R138L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 138 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 ACGTCCTTACGTCGCAACGCC 0.562 NA 21 28 1.00905e-13 1.41066e-13 0.008871 1 0 ROCK1 6093 broad.mit.edu 37 18 18629083 18629083 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr18:18629083C>A uc002kte.2 - 4 1325 c.384G>T c.(382-384)ATG>ATT p.M128I NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 128 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TGGCAAAAGCCATGATGTCCC 0.373 NA 44 65 4.44401e-20 6.97635e-20 0.010771 1 0 DSC3 1825 broad.mit.edu 37 18 28598198 28598198 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr18:28598198C>T uc002kwj.3 - 9 1257 c.1102G>A c.(1102-1104)GCA>ACA p.A368T DSC3_uc002kwi.3_Missense_Mutation_p.A368T NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 368 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACATTGAATGCATTTTCCTCT 0.279 NA 16 28 0 0 0.00499 0 0 INO80C 125476 broad.mit.edu 37 18 33048628 33048628 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr18:33048628C>A uc002kyy.3 - 5 643 c.526G>T c.(526-528)GAC>TAC p.D176Y INO80C_uc002kyw.1_Intron|INO80C_uc002kyx.3_Missense_Mutation_p.D121Y|INO80C_uc010dmt.2_Missense_Mutation_p.D212Y NM_194281 NP_919257 Q6PI98 IN80C_HUMAN Ies6-similar protein isoform 2 176 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex 0 GTGACGACGTCAGAGGGCAGC 0.557 NA 81 161 1.51503e-27 2.64425e-27 0.00361 1 0 ZNF443 10224 broad.mit.edu 37 19 12542605 12542605 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:12542605C>T uc002mtu.2 - 4 579 c.381G>A c.(379-381)GGG>GGA p.G127G NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 127 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 GTGGTTTGTGCCCAGCACCAA 0.433 NA 4 78 0 0 0.009096 0 0 EMR3 84658 broad.mit.edu 37 19 14736374 14736374 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:14736374A>T uc002mzi.3 - 15 1998 c.1850T>A c.(1849-1851)GTA>GAA p.V617E EMR3_uc010dzp.2_Missense_Mutation_p.V565E|EMR3_uc010xnv.1_Missense_Mutation_p.V491E NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 617 Cytoplasmic (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 TTTTGATTTTACGATCTCTCT 0.403 NA 63 39 0 0 0.00361 0 0 IL12RB1 3594 broad.mit.edu 37 19 18174812 18174812 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:18174812C>T uc002nhw.1 - 13 1556 c.1492G>A c.(1492-1494)GTG>ATG p.V498M IL12RB1_uc010xqb.1_Missense_Mutation_p.V498M|IL12RB1_uc002nhx.1_Missense_Mutation_p.V538M NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 498 Extracellular (Potential).|Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 GTGGGCTGCACGGGATGCTCT 0.637 NA 12 4 0 0 0.010729 0 0 PSG2 5670 broad.mit.edu 37 19 43579616 43579616 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:43579616C>A uc002ovr.2 - 3 692 c.599G>T c.(598-600)AGG>ATG p.R200M PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.R200M|PSG2_uc010eiq.1_Missense_Mutation_p.R200M|PSG2_uc002ovs.3_Missense_Mutation_p.R200M|PSG2_uc002ovt.3_Missense_Mutation_p.R200M NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 200 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) AAAGAGGGTCCTGTTGGTTTC 0.507 NA 232 322 4.32306e-105 9.20288e-105 0.00361 1 0 ZNF235 9310 broad.mit.edu 37 19 44791609 44791609 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:44791609C>T uc002oza.3 - 5 2082 c.1979G>A c.(1978-1980)TGT>TAT p.C660Y ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.C656Y|ZNF235_uc010xwx.1_Missense_Mutation_p.C574Y NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 660 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) TTCTTTCCCACATTCCTCACA 0.463 NA 62 90 0 0 0.00361 0 0 MYH14 79784 broad.mit.edu 37 19 50735303 50735303 + Nonsense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:50735303G>T uc002prr.1 + 9 1113 c.1066G>T c.(1066-1068)GGA>TGA p.G356* MYH14_uc010enu.1_Nonsense_Mutation_p.G364*|MYH14_uc002prq.1_Nonsense_Mutation_p.G364* NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 356 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCGGGTCCTGGGATTCAGCCA 0.662 NA 26 35 1.33986e-20 2.11518e-20 0.004656 1 0 ZNF347 84671 broad.mit.edu 37 19 53645328 53645328 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:53645328C>T uc002qbb.1 - 5 822 c.753G>A c.(751-753)GGG>GGA p.G251G ZNF347_uc010eql.1_Silent_p.G252G|ZNF347_uc002qbc.1_Silent_p.G252G NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TTGCTTTTTGCCCCTGTGTGA 0.373 Melanoma(64;205 1597 17324 45721) NA 4 165 0 0 0.009096 0 0 LILRA4 23547 broad.mit.edu 37 19 54850356 54850356 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:54850356G>T uc002qfj.2 - 1 66 c.9C>A c.(7-9)CTC>CTA p.L3L LILRA4_uc002qfi.2_5'UTR NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 3 L -> P (in Ref. 1; AAD02203). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TTGTGAGAATGAGGGTCATGG 0.572 NA 17 40 1.02788e-11 1.36889e-11 0.00499 1 0 PEG3 5178 broad.mit.edu 37 19 57328066 57328066 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:57328066G>T uc002qnu.2 - 7 2095 c.1744C>A c.(1744-1746)CAG>AAG p.Q582K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q553K|PEG3_uc002qnv.2_Missense_Mutation_p.Q582K|PEG3_uc002qnw.2_Missense_Mutation_p.Q458K|PEG3_uc002qnx.2_Missense_Mutation_p.Q456K|PEG3_uc010etr.2_Missense_Mutation_p.Q582K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 582 C2H2-type 3. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGATTTTCTGGTGCTCAATC 0.388 NA 26 68 7.33532e-06 8.2449e-06 0.003954 1 0 GREB1 9687 broad.mit.edu 37 2 11738806 11738806 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:11738806G>A uc002rbk.1 + 15 2453 c.2153G>A c.(2152-2154)GGG>GAG p.G718E GREB1_uc002rbo.1_Missense_Mutation_p.G352E NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 718 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGTGTTGCAGGGGTTTTGCTG 0.348 Ovarian(39;850 945 2785 23371 33093) NA 53 96 0 0 0.00361 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697597 17697597 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:17697597C>A uc002rcl.1 - 1 2110 c.2086G>T c.(2086-2088)GAC>TAC p.D696Y RAD51AP2_uc010exn.1_Missense_Mutation_p.D687Y NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 696 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCATCCATGTCATCAAAGTCC 0.303 NA 32 57 2.81731e-10 3.64823e-10 0.010818 1 0 CAD 790 broad.mit.edu 37 2 27458430 27458430 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:27458430G>T uc002rji.2 + 25 4158 c.3996G>T c.(3994-3996)GTG>GTT p.V1332V CAD_uc010eyw.2_Silent_p.V1269V NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1332 CPSase B.|CPSase (Carbamoyl-phosphate synthase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TCCCAACTGTGCGGCTACTGG 0.537 NA 39 71 2.00842e-17 3.10091e-17 0.010771 1 0 FSHR 2492 broad.mit.edu 37 2 49216164 49216164 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:49216164G>T uc002rww.2 - 6 550 c.476C>A c.(475-477)ACA>AAA p.T159K FSHR_uc002rwx.2_Missense_Mutation_p.T159K|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 159 LRR 5.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCTTTCAATTGTGTGGATGTT 0.328 NA Gonadal_Dysgenesis_46_XX 19 25 1.10513e-12 1.48585e-12 0.002299 1 0 ZNF638 27332 broad.mit.edu 37 2 71654429 71654429 + Missense_Mutation SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:71654429G>C uc002shx.2 + 24 5749 c.5430G>C c.(5428-5430)AAG>AAC p.K1810N ZNF638_uc002shy.2_Missense_Mutation_p.K1810N|ZNF638_uc002shz.2_Missense_Mutation_p.K1810N|ZNF638_uc002sia.2_Missense_Mutation_p.K1810N|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.K907N|ZNF638_uc002sid.2_Missense_Mutation_p.K179N NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1810 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GGAATAGAAAGAAGAGAGCTG 0.368 NA 28 63 0 0 0.005443 0 0 C2orf78 388960 broad.mit.edu 37 2 74043317 74043317 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:74043317T>A uc002sjr.1 + 3 2088 c.1967T>A c.(1966-1968)CTG>CAG p.L656Q NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 656 ovary(2) 2 TCCAGGACCCTGGGAAGCTCA 0.507 NA 19 57 0 0 0.008871 0 0 ACTG2 72 broad.mit.edu 37 2 74128468 74128468 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:74128468G>T uc002sjw.2 + 2 152 c.30G>T c.(28-30)GTG>GTT p.V10V ACTG2_uc010fex.1_Silent_p.V10V|ACTG2_uc010fey.2_Silent_p.V10V|ACTG2_uc010yrn.1_Silent_p.V10V NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 10 muscle contraction cytoskeleton|cytosol ATP binding 0 CCGCGCTCGTGTGTGACAATG 0.622 NA 17 33 2.48551e-13 3.42366e-13 0.00499 1 0 MYO7B 4648 broad.mit.edu 37 2 128347777 128347777 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:128347777C>A uc002top.2 + 16 2018 c.1965C>A c.(1963-1965)ATC>ATA p.I655I NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 655 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TCCGCTGCATCAAACCTAATG 0.532 NA 19 28 2.32416e-17 3.56879e-17 0.002299 1 0 WDR33 55339 broad.mit.edu 37 2 128477085 128477085 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:128477085C>A uc002tpg.1 - 16 2697 c.2514G>T c.(2512-2514)GGG>GGT p.G838G NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 838 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGGGTGGAGGCCCCTGCATGC 0.627 NA 22 31 2.70639e-06 3.15559e-06 0.002299 1 0 FAM123C 205147 broad.mit.edu 37 2 131521635 131521635 + Missense_Mutation SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:131521635G>C uc002trw.2 + 2 2180 c.1990G>C c.(1990-1992)GGT>CGT p.G664R FAM123C_uc010fmv.2_Missense_Mutation_p.G664R|FAM123C_uc010fms.1_Missense_Mutation_p.G664R|FAM123C_uc010fmt.1_Missense_Mutation_p.G664R|FAM123C_uc010fmu.1_Missense_Mutation_p.G664R NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 664 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGGTCACGGAGGTGACACTCT 0.662 NA 8 18 0 0 0.00308 0 0 ZRANB3 84083 broad.mit.edu 37 2 136107556 136107556 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:136107556C>T uc002tum.2 - 5 706 c.589G>A c.(589-591)GAG>AAG p.E197K ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.E197K|ZRANB3_uc002tun.1_Missense_Mutation_p.E137K NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 197 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TGTAATACCTCTTCAGGCCTT 0.408 NA 30 40 0 0 0.004878 0 0 THSD7B 80731 broad.mit.edu 37 2 137928486 137928486 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:137928486G>T uc002tva.1 + 6 1608 c.1608G>T c.(1606-1608)AAG>AAT p.K536N THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.K426N NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GTATTCTGAAGGCCGTCTGCC 0.493 NA 16 31 2.23348e-06 2.61504e-06 0.004007 1 0 ZEB2 9839 broad.mit.edu 37 2 145156362 145156362 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:145156362T>A uc002tvu.2 - 8 2872 c.2392A>T c.(2392-2394)AGT>TGT p.S798C ZEB2_uc002tvv.2_Missense_Mutation_p.S792C|ZEB2_uc010zbm.1_Missense_Mutation_p.S769C|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S827C NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 798 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TATGAACTACTGTGGGAGTTT 0.388 Melanoma(33;1235 1264 5755 16332) NA 76 128 0 0 0.00361 0 0 TANC1 85461 broad.mit.edu 37 2 159992709 159992709 + Silent SNP C C G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:159992709C>G uc002uag.2 + 5 538 c.264C>G c.(262-264)CCC>CCG p.P88P TANC1_uc010fol.1_Silent_p.P88P|TANC1_uc010zcm.1_Silent_p.P88P|TANC1_uc010fom.1_Silent_p.P88P|TANC1_uc002uah.1_5'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 88 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CTACAGGTCCCGTCAGGAAGC 0.483 NA 52 99 0 0 0.00361 0 0 PSMD14 10213 broad.mit.edu 37 2 162224311 162224311 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:162224311G>A uc002ubu.2 + 5 604 c.137G>A c.(136-138)CGT>CAT p.R46H NM_005805 NP_005796 O00487 PSDE_HUMAN proteasome 26S subunit, non-ATPase 14 46 MPN. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1) 1 AAACATGGCCGTGCTGGAGTT 0.388 NA 21 32 0 0 0.012319 0 0 KCNH7 90134 broad.mit.edu 37 2 163693240 163693240 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:163693240G>T uc002uch.1 - 2 326 c.114C>A c.(112-114)AAC>AAA p.N38K KCNH7_uc002uci.2_Missense_Mutation_p.N38K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 38 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TGATGGCACAGTTCTGCACTC 0.418 GBM(196;1492 2208 17507 24132 45496) NA 24 30 4.26978e-12 5.71337e-12 0.00333 1 0 TLK1 9874 broad.mit.edu 37 2 171867901 171867901 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:171867901G>T uc002ugn.2 - 14 1870 c.1398C>A c.(1396-1398)GGC>GGA p.G466G TLK1_uc002ugo.2_Silent_p.G487G|TLK1_uc002ugp.2_Silent_p.G418G|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.G370G NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 466 Protein kinase.|ATP (By similarity). cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 CTTCACTAAAGCCACCTCTAC 0.328 NA 14 56 2.23348e-06 2.61504e-06 0.004007 1 0 SLC25A12 8604 broad.mit.edu 37 2 172666787 172666787 + Splice_Site SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:172666787C>A uc002uhh.2 - 12 1261 c.1172_splice c.e12-1 p.G391_splice SLC25A12_uc010fqh.2_Splice_Site_p.G284_splice NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) GGTATCAGACCTAGGTAAAGG 0.378 NA 45 62 1.62263e-30 2.94166e-30 0.00361 1 0 KIAA1715 80856 broad.mit.edu 37 2 176812337 176812337 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:176812337C>A uc002ukc.1 - 9 770 c.577G>T c.(577-579)GTA>TTA p.V193L KIAA1715_uc010zer.1_Missense_Mutation_p.V193L|KIAA1715_uc010fqw.1_Missense_Mutation_p.V259L|KIAA1715_uc010zes.1_Missense_Mutation_p.V195L|KIAA1715_uc002ukd.1_Missense_Mutation_p.V70L|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 193 Cytoplasmic (Potential).|Pro-rich. integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) CCAGGAGATACTGGAACTTGT 0.512 NA 49 100 2.17126e-26 3.72026e-26 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179477551 179477551 + Nonsense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:179477551C>A uc010zfg.1 - 214 42417 c.42193G>T c.(42193-42195)GAA>TAA p.E14065* uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E7760*|TTN_uc010zfi.1_Nonsense_Mutation_p.E7693*|TTN_uc010zfj.1_Nonsense_Mutation_p.E7568* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14992 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTCACTTTCCCCAGCCTTA 0.502 NA 14 35 7.93312e-07 9.40594e-07 0.00245 1 0 SGOL2 151246 broad.mit.edu 37 2 201438669 201438669 + Missense_Mutation SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:201438669A>T uc002uvw.2 + 7 3713 c.3600A>T c.(3598-3600)AAA>AAT p.K1200N SGOL2_uc010zhd.1_Missense_Mutation_p.K1200N|SGOL2_uc010zhe.1_Missense_Mutation_p.K1200N NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 1200 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 TGAAATTTAAAGTCAACCGGA 0.318 NA 34 45 0 0 0.010818 0 0 ABCA12 26154 broad.mit.edu 37 2 215820017 215820017 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr2:215820017G>T uc002vew.2 - 43 6522 c.6302C>A c.(6301-6303)ACT>AAT p.T2101N ABCA12_uc002vev.2_Missense_Mutation_p.T1783N|ABCA12_uc010zjn.1_Missense_Mutation_p.T1028N NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2101 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAGACGTAAGTGATGAAGGC 0.403 Ovarian(66;664 1488 5121 34295) NA 15 28 2.32078e-09 2.93757e-09 0.003163 1 0 PCSK2 5126 broad.mit.edu 37 20 17462466 17462466 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr20:17462466C>A uc002wpm.2 + 12 1988 c.1668C>A c.(1666-1668)ACC>ACA p.T556T PCSK2_uc002wpl.2_Silent_p.T537T|PCSK2_uc010zrm.1_Silent_p.T521T|PCSK2_uc002wpn.2_Silent_p.T210T NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 556 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTTCATGACCACTCACACGT 0.607 NA 14 45 5.3912e-06 6.15825e-06 0.006122 1 0 PREX1 57580 broad.mit.edu 37 20 47273634 47273634 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr20:47273634G>T uc002xtw.1 - 18 2090 c.2067C>A c.(2065-2067)AAC>AAA p.N689K PREX1_uc002xtv.1_5'Flank NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 689 PDZ. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGAAGGACTGGTTGAGGATGG 0.642 NA 8 8 0.00307968 0.00334127 0.00308 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47626850 47626850 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr20:47626850G>T uc002xtx.3 + 27 3818 c.3666G>T c.(3664-3666)TGG>TGT p.W1222C ARFGEF2_uc010zyf.1_Missense_Mutation_p.W515C NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1222 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GCTCAGGTTGGAAGAACATCT 0.567 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 37 24 9.80977e-26 1.67063e-25 0.004289 1 0 COL9A3 1299 broad.mit.edu 37 20 61468487 61468487 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr20:61468487C>T uc002ydm.2 + 30 1659 c.1656C>T c.(1654-1656)TCC>TCT p.S552S COL9A3_uc002ydn.2_Silent_p.S46S NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 552 Triple-helical region 2 (COL2). axon guidance collagen type IX 0 Breast(26;5.68e-08) CACCCGGGTCCATTGGTCGGC 0.632 NA 36 476 0 0 0.005524 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688836 26688836 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr22:26688836G>T uc003acb.2 + 2 715 c.559G>T c.(559-561)GAC>TAC p.D187Y SEZ6L_uc003acc.2_Missense_Mutation_p.D187Y|SEZ6L_uc011akc.1_Missense_Mutation_p.D187Y|SEZ6L_uc003acd.2_Missense_Mutation_p.D187Y|SEZ6L_uc011akd.1_Missense_Mutation_p.D187Y|SEZ6L_uc003ace.2_Missense_Mutation_p.D187Y|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 187 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CCTTTGGCTGGACCGAAAGGA 0.647 NA 27 31 4.87955e-14 6.89022e-14 0.005443 1 0 RNF185 91445 broad.mit.edu 37 22 31583195 31583195 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr22:31583195T>A uc003akb.2 + 2 315 c.115T>A c.(115-117)TGC>AGC p.C39S RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_Missense_Mutation_p.S14R|RNF185_uc003akc.2_Missense_Mutation_p.S14R|RNF185_uc003ake.2_Missense_Mutation_p.C39S NM_152267 NP_689480 Q96GF1 RN185_HUMAN ring finger protein 185 isoform 1 39 RING-type. integral to membrane zinc ion binding 0 CACTTTCGAGTGCAACATCTG 0.617 NA 31 71 0 0 0.009535 0 0 FBLN2 2199 broad.mit.edu 37 3 13678060 13678060 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:13678060C>A uc011avb.1 + 16 3314 c.3189C>A c.(3187-3189)GTC>GTA p.V1063V FBLN2_uc011auz.1_Silent_p.V1089V|FBLN2_uc011ava.1_Silent_p.V1110V|FBLN2_uc011avc.1_Silent_p.V1110V NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 1063 EGF-like 10; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ATGTCCAAGTCTCCAAAACGT 0.597 NA 10 6 7.48243e-07 8.90916e-07 0.006214 1 0 NBEAL2 23218 broad.mit.edu 37 3 47043987 47043987 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:47043987G>T uc003cqp.2 + 32 5457 c.5278G>T c.(5278-5280)GCC>TCC p.A1760S NBEAL2_uc010hjm.1_Missense_Mutation_p.A1137S|NBEAL2_uc010hjn.1_Missense_Mutation_p.A156S|NBEAL2_uc010hjo.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1760 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GTGGGAGCGCGCCCAGAGTCG 0.577 NA 24 14 3.5997e-14 5.18726e-14 0.002299 1 0 COL7A1 1294 broad.mit.edu 37 3 48610962 48610962 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:48610962C>A uc003ctz.2 - 82 6603 c.6602G>T c.(6601-6603)GGA>GTA p.G2201V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2201 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCAGAAGGTCCTTGGGGTCC 0.587 NA 33 19 3.76114e-14 5.36487e-14 0.004289 1 0 TLR9 54106 broad.mit.edu 37 3 52255676 52255676 + Missense_Mutation SNP A A C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:52255676A>C uc003dda.1 - 2 3290 c.2656T>G c.(2656-2658)TGG>GGG p.W886G TLR9_uc003ddb.2_Missense_Mutation_p.W983G NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 886 TIR.|Cytoplasmic (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TTGTACACCCAGTCTGCCACT 0.657 NA 64 128 0 0 0.00361 0 0 PROS1 5627 broad.mit.edu 37 3 93619674 93619674 + Missense_Mutation SNP T T C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:93619674T>C uc003drb.3 - 7 1042 c.701A>G c.(700-702)TAT>TGT p.Y234C PROS1_uc010hoo.2_Missense_Mutation_p.Y103C|PROS1_uc003dqz.3_Missense_Mutation_p.Y103C NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 234 EGF-like 3; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTTGAGATTATATCTGTAGCC 0.433 NA 21 37 0 0 0.003954 0 0 LSAMP 4045 broad.mit.edu 37 3 116163754 116163754 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:116163754G>A uc003ebt.2 - 1 625 c.125C>T c.(124-126)ACC>ATC p.T42I LSAMP_uc011bis.1_Missense_Mutation_p.T42I|LSAMP_uc010hqq.1_RNA NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 42 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CTGCCTCACGGTGATGTTGTC 0.493 NA 4 16 0 0 0.009096 0 0 GMPS 8833 broad.mit.edu 37 3 155649570 155649570 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:155649570A>G uc003faq.2 + 13 1912 c.1577A>G c.(1576-1578)TAC>TGC p.Y526C GMPS_uc011bom.1_Missense_Mutation_p.Y427C NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 526 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGTCGTTCCTACAGTTACGTG 0.343 Ovarian(153;896 1876 4149 15499 28134) NA T MLL AML 64 116 0 0 0.00361 0 0 GABRA2 2555 broad.mit.edu 37 4 46307719 46307719 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:46307719G>T uc003gxc.3 - 6 1242 c.569C>A c.(568-570)ACA>AAA p.T190K GABRA2_uc010igc.2_Missense_Mutation_p.T190K|GABRA2_uc011bzc.1_Missense_Mutation_p.T135K|GABRA2_uc003gxe.2_Missense_Mutation_p.T190K NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 190 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCTGAAGTTGTATATGCATC 0.363 NA 22 21 8.10497e-08 9.9454e-08 0.010504 1 0 GNRHR 2798 broad.mit.edu 37 4 68619639 68619639 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:68619639G>T uc003hdn.2 - 1 2166 c.415C>A c.(415-417)CGC>AGC p.R139S LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.R139S NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 139 Cytoplasmic (Potential). R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) GCCAGGGAGCGGTCCAGGCTG 0.517 NA 17 29 3.52763e-06 4.06256e-06 0.00499 1 0 SULT1B1 27284 broad.mit.edu 37 4 70596333 70596333 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:70596333C>T uc003hen.2 - 7 962 c.664G>A c.(664-666)GAT>AAT p.D222N NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 222 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 ATGATCCTATCCAAGATCTCA 0.373 NA 19 20 0 0 0.008871 0 0 PPEF2 5470 broad.mit.edu 37 4 76781857 76781857 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:76781857G>A uc003hix.2 - 17 2582 c.2225C>T c.(2224-2226)GCT>GTT p.A742V PPEF2_uc003hiy.2_RNA NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 742 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) ACTGTCTTTAGCATTTGTAGC 0.517 NSCLC(105;1359 1603 15961 44567 47947) NA 12 20 0 0 0.010729 0 0 WDFY3 23001 broad.mit.edu 37 4 85642649 85642649 + Silent SNP T T C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:85642649T>C uc003hpd.2 - 47 7926 c.7518A>G c.(7516-7518)CAA>CAG p.Q2506Q WDFY3_uc003hpe.1_Silent_p.Q117Q NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2506 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAATCTGGTCTTGTAGCTGCT 0.488 NA 36 75 0 0 0.002836 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99342456 99342456 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:99342456G>T uc003htx.3 + 12 1541 c.1351G>T c.(1351-1353)GTG>TTG p.V451L RAP1GDS1_uc003htw.3_Missense_Mutation_p.V452L|RAP1GDS1_uc003htv.3_Missense_Mutation_p.V451L|RAP1GDS1_uc003htz.3_Missense_Mutation_p.V402L|RAP1GDS1_uc003hty.3_Missense_Mutation_p.V403L|RAP1GDS1_uc003hua.3_Missense_Mutation_p.V360L NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 451 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GGAGCGTTTGGTGGAATGGTG 0.433 NA T NUP98 T-ALL 22 30 3.62473e-10 4.67225e-10 0.012319 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99342458 99342458 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:99342458G>T uc003htx.3 + 12 1543 c.1353G>T c.(1351-1353)GTG>GTT p.V451V RAP1GDS1_uc003htw.3_Silent_p.V452V|RAP1GDS1_uc003htv.3_Silent_p.V451V|RAP1GDS1_uc003htz.3_Silent_p.V402V|RAP1GDS1_uc003hty.3_Silent_p.V403V|RAP1GDS1_uc003hua.3_Silent_p.V360V NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 451 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) AGCGTTTGGTGGAATGGTGTG 0.433 NA T NUP98 T-ALL 23 30 6.44725e-10 8.2349e-10 0.002299 1 0 ANK2 287 broad.mit.edu 37 4 114117535 114117535 + Missense_Mutation SNP C C A rs146964054 byFrequency TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:114117535C>A uc003ibe.3 + 3 298 c.198C>A c.(196-198)AAC>AAA p.N66K ANK2_uc003ibd.3_Missense_Mutation_p.N45K|ANK2_uc003ibf.3_Missense_Mutation_p.N66K|ANK2_uc003ibc.2_Missense_Mutation_p.N42K|ANK2_uc011cgb.1_Missense_Mutation_p.N81K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 66 ANK 2. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATGGACTCAACGCTCTCCATC 0.483 NA 13 31 4.3838e-07 5.30969e-07 0.001855 1 0 MAML3 55534 broad.mit.edu 37 4 141074131 141074131 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:141074131G>A uc003ihz.1 - 1 1103 c.351C>T c.(349-351)ACC>ACT p.T117T MAML3_uc011chd.1_Silent_p.T117T NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 117 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) TCTGCTCCAGGGTCCGCTGGT 0.672 NA 12 9 0 0 0.010729 0 0 ODZ3 55714 broad.mit.edu 37 4 183713606 183713606 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr4:183713606C>T uc003ivd.1 + 25 5818 c.5781C>T c.(5779-5781)GAC>GAT p.D1927D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1927 Extracellular (Potential).|YD 8. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TCATCACGGACTACAACGAGG 0.502 NA 30 40 0 0 0.007291 0 0 CDH10 1008 broad.mit.edu 37 5 24537633 24537633 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:24537633G>T uc003jgr.1 - 3 714 c.382C>A c.(382-384)CGC>AGC p.R128S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 128 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GCTTGTGCGCGTAGAGTATAA 0.413 NA HNSCC(23;0.051) 51 108 6.3237e-29 1.11758e-28 0.00361 1 0 CDH6 1004 broad.mit.edu 37 5 31323074 31323074 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:31323074A>G uc003jhe.1 + 12 2358 c.2032A>G c.(2032-2034)AGG>GGG p.R678G NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 678 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CGGCACCCTGAGGAATCCTGA 0.502 NA 4 74 0 0 0.009096 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33614470 33614470 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:33614470C>A uc003jia.1 - 16 2563 c.2400G>T c.(2398-2400)CAG>CAT p.Q800H ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q715H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 800 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGTTAGTCACCTGGAATAGAA 0.438 NA HNSCC(64;0.19) 15 25 7.05477e-17 1.07156e-16 0.00499 1 0 HCN1 348980 broad.mit.edu 37 5 45262155 45262155 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:45262155C>A uc003jok.2 - 8 2566 c.2541G>T c.(2539-2541)TCG>TCT p.S847S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 847 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GGATGGCTCCCGACGACATCT 0.647 NA 36 81 1.47197e-15 2.17697e-15 0.007835 1 0 HCN1 348980 broad.mit.edu 37 5 45267293 45267293 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:45267293G>T uc003jok.2 - 7 1706 c.1681C>A c.(1681-1683)CTT>ATT p.L561I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 561 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGTGAGTAAAGACGACAATAT 0.428 NA 28 56 1.38267e-23 2.2721e-23 0.005443 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128862046 128862046 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:128862046C>A uc003kvb.1 + 4 965 c.965C>A c.(964-966)CCT>CAT p.P322H ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 322 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TACAAATTACCTCAAGAATAC 0.388 NA 7 61 0.00198382 0.00216908 0.001984 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215250 140215250 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:140215250C>T uc003lhq.2 + 1 1282 c.1282C>T c.(1282-1284)CGG>TGG p.R428W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTACCGCGCGGGACGGGGG 0.617 NSCLC(160;258 2013 5070 22440 28951) NA 75 130 0 0 0.00361 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516961 140516961 + Missense_Mutation SNP C C T rs17844424 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:140516961C>T uc003liq.2 + 1 2162 c.1945C>T c.(1945-1947)CCT>TCT p.P649S NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 649 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGGCGAGCCTCCGCGCTC 0.731 NA 36 57 0 0 0.003271 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529963 140529963 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:140529963C>A uc003lir.2 + 1 125 c.125C>A c.(124-126)ACG>AAG p.T42K PCDHB6_uc011dah.1_Intron NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 42 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAGTGGCACGTTTGTGGCC 0.502 NA 48 78 2.81731e-22 4.54979e-22 0.00361 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140710439 140710439 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:140710439G>T uc003lji.1 + 1 188 c.188G>T c.(187-189)GGA>GTA p.G63V PCDHGA1_uc011dan.1_Missense_Mutation_p.G63V NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 63 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGATGGCGGAGTCCGCATC 0.572 NA 67 98 7.75977e-34 1.45366e-33 0.00361 1 0 PCDHGA11 56105 broad.mit.edu 37 5 140801564 140801564 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:140801564G>T uc003lkq.1 + 1 1028 c.770G>T c.(769-771)AGC>ATC p.S257I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.S257I|PCDHGA11_uc003lkp.1_Missense_Mutation_p.S257I NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 257 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAACATCAGCTCCGGAACT 0.483 NA 65 138 1.02487e-32 1.89466e-32 0.00361 1 0 SLC36A3 285641 broad.mit.edu 37 5 150657178 150657178 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:150657178G>A uc003ltw.2 - 10 1608 c.1189C>T c.(1189-1191)CTG>TTG p.L397L GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.L382L|SLC36A3_uc003ltx.2_Silent_p.L438L NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 397 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCCTACCAGGGAGATGACC 0.532 NA 26 43 0 0 0.00632 0 0 KIF4B 285643 broad.mit.edu 37 5 154395153 154395153 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:154395153G>T uc010jih.1 + 1 1894 c.1734G>T c.(1732-1734)TTG>TTT p.L578F NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 578 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGGAAGAATTGGTTCGTGAAC 0.423 NA 26 63 1.42536e-11 1.88927e-11 0.004656 1 0 KIF4B 285643 broad.mit.edu 37 5 154396937 154396937 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:154396937G>T uc010jih.1 + 1 3678 c.3518G>T c.(3517-3519)TGT>TTT p.C1173F NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1173 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAAGAGATGTGTGACATGGAG 0.507 NA 22 60 8.10497e-08 9.9454e-08 0.010504 1 0 STC2 8614 broad.mit.edu 37 5 172755182 172755182 + Silent SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:172755182C>A uc003mco.1 - 1 1325 c.15G>T c.(13-15)CGG>CGT p.R5R STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 5 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACTGGCCCAGCCGCTCGGCAC 0.517 NA 57 106 1.45723e-30 2.65897e-30 0.00361 1 0 CDYL 9425 broad.mit.edu 37 6 4716036 4716036 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:4716036G>T uc003mwi.2 + 2 155 c.24G>T c.(22-24)AGG>AGT p.R8S NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 8 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CAAGCCACAGGTCAGCCTGGG 0.448 NA 23 9 1.10513e-12 1.48585e-12 0.002299 1 0 FAM65B 9750 broad.mit.edu 37 6 24843714 24843714 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:24843714G>T uc003neo.1 - 14 1472 c.1296C>A c.(1294-1296)AGC>AGA p.S432R FAM65B_uc011djs.1_Missense_Mutation_p.S411R|FAM65B_uc011dju.1_Missense_Mutation_p.S416R|FAM65B_uc003nep.2_Missense_Mutation_p.S382R|FAM65B_uc011djt.1_Missense_Mutation_p.S382R NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 432 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 GGTCACTGAAGCTGAGCGACA 0.478 NA 38 10 9.8876e-21 1.56973e-20 0.004878 1 0 TRIM39 56658 broad.mit.edu 37 6 30297471 30297471 + Missense_Mutation SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:30297471G>C uc010jrz.2 + 3 689 c.377G>C c.(376-378)TGC>TCC p.C126S HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.C126S|TRIM39_uc003nqb.2_Missense_Mutation_p.C126S|TRIM39_uc003nqc.2_Missense_Mutation_p.C126S|TRIM39_uc010jsa.1_Missense_Mutation_p.C126S NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 126 B box-type. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 GAGGCTGTATGCTTGATATGT 0.577 NA 55 23 0 0 0.00361 0 0 ABCF1 23 broad.mit.edu 37 6 30545863 30545863 + Missense_Mutation SNP A A G TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:30545863A>G uc003nql.2 + 4 322 c.227A>G c.(226-228)AAG>AGG p.K76R ABCF1_uc003nqk.2_Missense_Mutation_p.K77R|ABCF1_uc003nqm.2_Missense_Mutation_p.K76R|ABCF1_uc010jsb.2_Missense_Mutation_p.K76R NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 76 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 CAAAAAAAAAAGCGAGATACC 0.493 NA 29 68 0 0 0.00632 0 0 TCP11 6954 broad.mit.edu 37 6 35090040 35090040 + Missense_Mutation SNP C C A rs142915532 byFrequency TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:35090040C>A uc003okd.2 - 5 652 c.471G>T c.(469-471)TTG>TTT p.L157F TCP11_uc003ojz.1_Missense_Mutation_p.L82F|TCP11_uc003oka.2_Missense_Mutation_p.L82F|TCP11_uc003okb.2_Missense_Mutation_p.L81F|TCP11_uc003okc.2_Missense_Mutation_p.L81F|TCP11_uc011dsu.1_Missense_Mutation_p.L139F|TCP11_uc011dsv.1_Missense_Mutation_p.L106F|TCP11_uc011dsw.1_Missense_Mutation_p.L111F NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 144 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 CCTGCTTGAGCAAGTCCATGT 0.488 NA 68 36 2.26907e-38 4.3973e-38 0.00361 1 0 FGD2 221472 broad.mit.edu 37 6 36976674 36976674 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:36976674C>A uc010jwp.1 + 2 304 c.133C>A c.(133-135)CCT>ACT p.P45T FGD2_uc003onf.2_Missense_Mutation_p.P45T|FGD2_uc011dtu.1_Missense_Mutation_p.P45T|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 45 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 TGAGTGCAGGCCTCCCGAGTC 0.632 NA 39 24 5.04308e-16 7.5781e-16 0.00623 1 0 TDRD6 221400 broad.mit.edu 37 6 46658781 46658781 + Silent SNP A A T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:46658781A>T uc003oyj.2 + 1 2916 c.2916A>T c.(2914-2916)CTA>CTT p.L972L TDRD6_uc010jze.2_Silent_p.L966L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 972 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CTGTTCAGCTACATTCCTACT 0.388 NA 40 18 0 0 0.010771 0 0 MCM3 4172 broad.mit.edu 37 6 52143587 52143587 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:52143587C>T uc003pan.1 - 6 942 c.832G>A c.(832-834)GCT>ACT p.A278T MCM3_uc011dwu.1_Missense_Mutation_p.A232T NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 278 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) ATATCCTCAGCAGAGAAAGAG 0.438 NA 41 19 0 0 0.010771 0 0 PRIM2 5558 broad.mit.edu 37 6 57183296 57183296 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:57183296G>T uc003pdx.2 + 2 140 c.53G>T c.(52-54)AGG>ATG p.R18M PRIM2_uc003pdv.1_Missense_Mutation_p.R18M|PRIM2_uc003pdw.2_Missense_Mutation_p.R18M NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 18 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GGTGACCAGAGGAATGCTTCC 0.398 NA 9 13 2.17888e-05 2.4393e-05 0.006214 1 0 PHIP 55023 broad.mit.edu 37 6 79697925 79697925 + Splice_Site SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:79697925C>T uc003pir.2 - 21 2686 c.2460_splice c.e21+1 p.D820_splice PHIP_uc011dyp.1_Splice_Site_p.D819_splice NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TGATATCTTACATCTGAAGAA 0.318 NA 10 65 0 0 0.001368 0 0 C6orf165 154313 broad.mit.edu 37 6 88138502 88138502 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:88138502G>A uc003plv.2 + 9 1211 c.1119G>A c.(1117-1119)GCG>GCA p.A373A C6orf165_uc003plw.2_Silent_p.A185A|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.A373A NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 373 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTAATGGAGCGACTGTGAAAA 0.368 NA 27 34 0 0 0.005443 0 0 CLVS2 134829 broad.mit.edu 37 6 123318960 123318960 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:123318960T>A uc003pzi.1 + 2 907 c.38T>A c.(37-39)CTG>CAG p.L13Q NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 13 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CCTGAGACCCTGGAGAAAGCT 0.537 NA 15 38 0 0 0.004007 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239695 135239695 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:135239695C>A uc003qew.2 - 7 1375 c.1322G>T c.(1321-1323)GGC>GTC p.G441V ALDH8A1_uc003qex.2_Missense_Mutation_p.G387V|ALDH8A1_uc010kgh.2_Missense_Mutation_p.G219V|ALDH8A1_uc011ecx.1_Missense_Mutation_p.G391V NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 441 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CCAGACCAAGCCAGACTGCAG 0.562 NA 15 30 2.23348e-06 2.61504e-06 0.004007 1 0 WIPI2 26100 broad.mit.edu 37 7 5256250 5256250 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:5256250G>A uc003snv.2 + 5 654 c.438G>A c.(436-438)AAG>AAA p.K146K WIPI2_uc003snw.2_Silent_p.K146K|WIPI2_uc003snx.2_Silent_p.K128K|WIPI2_uc003sny.2_Silent_p.K128K|WIPI2_uc010ksv.2_Silent_p.K2K|WIPI2_uc003snz.2_Silent_p.K87K|WIPI2_uc003soa.2_Silent_p.K87K NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 146 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) GGGACATGAAGGTGCTGCATA 0.498 NA 33 102 0 0 0.006999 0 0 MIOS 54468 broad.mit.edu 37 7 7622753 7622753 + Missense_Mutation SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:7622753G>C uc003srf.2 + 6 1706 c.1398G>C c.(1396-1398)ATG>ATC p.M466I MIOS_uc003srg.2_Missense_Mutation_p.M1I|MIOS_uc010ktq.2_5'Flank NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 466 0 TTTTAGGAATGGTGGAAAGCA 0.303 NA 20 80 0 0 0.007413 0 0 KLHL7 55975 broad.mit.edu 37 7 23163444 23163444 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:23163444G>T uc003svs.3 + 2 462 c.169G>T c.(169-171)GCT>TCT p.A57S KLHL7_uc003svr.3_Missense_Mutation_p.A35S|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.A9S|KLHL7_uc003svp.2_Missense_Mutation_p.A35S|KLHL7_uc003svq.2_Missense_Mutation_p.A57S|KLHL7_uc011jyu.1_Missense_Mutation_p.A35S NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 57 BTB. Golgi apparatus|nucleolus|plasma membrane 0 AAAGATACCTGCTCATCGTGT 0.358 NA 25 65 4.87955e-14 6.89022e-14 0.005443 1 0 IGF2BP3 10643 broad.mit.edu 37 7 23387344 23387344 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:23387344G>T uc003swg.2 - 7 959 c.693C>A c.(691-693)GTC>GTA p.V231V IGF2BP3_uc003swf.2_5'UTR NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 231 KH 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 CTTTACGGTGGACATCGATTC 0.478 NA 28 127 3.99451e-17 6.10031e-17 0.009535 1 0 BBS9 27241 broad.mit.edu 37 7 33573735 33573735 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:33573735G>T uc003tdn.1 + 21 2981 c.2468G>T c.(2467-2469)GGC>GTC p.G823V BBS9_uc003tdo.1_Missense_Mutation_p.G788V|BBS9_uc003tdp.1_Missense_Mutation_p.G818V|BBS9_uc003tdq.1_Missense_Mutation_p.G783V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.G347V|BBS9_uc003tds.1_Missense_Mutation_p.G246V|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 823 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TCCAAAGGTGGCCGTCTCTGC 0.493 NA Bardet-Biedl_syndrome 34 56 1.45844e-13 2.02881e-13 0.002836 1 0 DPY19L2P1 554236 broad.mit.edu 37 7 35144371 35144371 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:35144371G>T uc003teq.1 - 18 1844 c.737C>A c.(736-738)GCT>GAT p.A246D DPY19L2P1_uc003tep.1_RNA|DPY19L2P1_uc010kwz.1_RNA RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2; 0 TGTGTGAAAAGCCAGCTATAA 0.308 NA 19 55 6.94344e-10 8.82854e-10 0.006122 1 0 EEPD1 80820 broad.mit.edu 37 7 36194118 36194118 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:36194118G>T uc003tfa.2 + 2 825 c.185G>T c.(184-186)CGC>CTC p.R62L NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 62 HhH. DNA repair DNA binding 0 GCCGTGGCACGCAGCATCGTG 0.577 NA 226 67 1.5621e-98 3.30037e-98 0.00361 1 0 PKD1L1 168507 broad.mit.edu 37 7 47906168 47906168 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:47906168C>T uc003tny.1 - 25 3941 c.3941G>A c.(3940-3942)GGG>GAG p.G1314E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1314 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TGTGTAACTCCCCATCAGCTG 0.443 NA 32 96 0 0 0.010818 0 0 ABCA13 154664 broad.mit.edu 37 7 48411995 48411995 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:48411995G>T uc003toq.2 + 33 11059 c.11034G>T c.(11032-11034)GCG>GCT p.A3678A ABCA13_uc010kys.1_Silent_p.A752A|ABCA13_uc003tos.1_Silent_p.A504A NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3678 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTAATACAGCGGCCCTTTGTA 0.413 NA 104 333 1.04275e-50 2.12327e-50 0.00361 1 0 NSUN5P2 260294 broad.mit.edu 37 7 72419892 72419892 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:72419892C>T uc003twn.2 - 8 1054 c.342G>A c.(340-342)GAG>GAA p.E114E POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_Silent_p.E114E|NSUN5P2_uc003two.2_Silent_p.E114E|NSUN5P2_uc003twq.2_Silent_p.E114E|NSUN5P2_uc010lan.1_Intron|NSUN5P2_uc003twp.2_Silent_p.E114E NM_032158 NP_115534 NOL1/NOP2/Sun domain family, member 5C isoform 0 CATAGTGGACCTCACGATAGC 0.622 NA 9 19 0 0 0.008291 0 0 PCLO 27445 broad.mit.edu 37 7 82387975 82387975 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:82387975G>T uc003uhx.2 - 25 15634 c.15345C>A c.(15343-15345)GCC>GCA p.A5115A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 5038 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCCAGATACAGGCTTCACCAA 0.343 NA 88 86 6.16549e-39 1.20313e-38 0.00361 1 0 ZNF804B 219578 broad.mit.edu 37 7 88966128 88966128 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:88966128C>A uc011khi.1 + 4 4370 c.3832C>A c.(3832-3834)CCA>ACA p.P1278T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1278 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) CCCCTTCCACCCATCTCACAT 0.463 NA HNSCC(36;0.09) 52 155 1.91693e-13 2.65348e-13 0.00361 1 0 PCOLCE 5118 broad.mit.edu 37 7 100205337 100205337 + Missense_Mutation SNP T T C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:100205337T>C uc003uvo.2 + 8 1288 c.1090T>C c.(1090-1092)TAT>CAT p.Y364H PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 364 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TATTGGTGCTTATAAAACTGG 0.557 NA 22 91 0 0 0.00632 0 0 SND1 27044 broad.mit.edu 37 7 127334986 127334986 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:127334986G>T uc003vmi.2 + 3 559 c.333G>T c.(331-333)ATG>ATT p.M111I NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 111 TNase-like 1. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 AGTATGGCATGATCTACCTTG 0.478 NA 19 70 5.35267e-07 6.45536e-07 0.007413 1 0 FAM180A 389558 broad.mit.edu 37 7 135418891 135418891 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:135418891G>T uc003vtd.2 - 3 620 c.354C>A c.(352-354)CTC>CTA p.L118L FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Silent_p.L118L NM_205855 NP_995327 Q6UWF9 F180A_HUMAN hypothetical protein LOC389558 precursor 118 extracellular region ovary(2) 2 CTTCTTTCTTGAGGATGCCAG 0.612 NA 56 56 3.84483e-29 6.83796e-29 0.00361 1 0 DENND2A 27147 broad.mit.edu 37 7 140301269 140301269 + Missense_Mutation SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:140301269G>C uc010lnj.2 - 1 1074 c.929C>G c.(928-930)TCT>TGT p.S310C DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S310C|DENND2A_uc003vvw.2_Missense_Mutation_p.S310C|DENND2A_uc003vvx.2_Missense_Mutation_p.S310C NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 310 p.S310A(1) ovary(3)|breast(1) 4 Melanoma(164;0.00956) aggtgggggagaggagggcag 0.398 NA 28 39 0 0 0.003271 0 0 TRYX3 136541 broad.mit.edu 37 7 141952343 141952343 + Silent SNP C C T rs150069777 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:141952343C>T uc003vxb.2 - 4 845 c.525G>A c.(523-525)ACG>ACA p.T175T TRYX3_uc003vxc.3_Silent_p.T175T NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 175 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) GCATATTTTCCGTGATGTTGT 0.433 NA 24 92 0 0 0.003954 0 0 ZNF746 155061 broad.mit.edu 37 7 149174757 149174757 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:149174757C>A uc003wfw.2 - 5 881 c.610G>T c.(610-612)GTG>TTG p.V204L ZNF746_uc010lpi.2_Missense_Mutation_p.V204L NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 204 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CACGCCTCCACGCCCAGGGCC 0.672 NA 11 20 3.86212e-05 4.28955e-05 0.008291 1 0 ZNF467 168544 broad.mit.edu 37 7 149461930 149461930 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr7:149461930C>A uc003wgd.2 - 5 1802 c.1661G>T c.(1660-1662)CGC>CTC p.R554L ZNF467_uc003wgc.2_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 554 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGGGTCTTGCGGCTGAAGCT 0.706 NA 26 24 1.08312e-15 1.61035e-15 0.009535 1 0 RP1L1 94137 broad.mit.edu 37 8 10470400 10470400 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:10470400G>T uc003wtc.2 - 4 1437 c.1208C>A c.(1207-1209)CCC>CAC p.P403H NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 403 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCATACTTGGGCCCTGGCTG 0.667 NA 30 50 7.26314e-15 1.05748e-14 0.007291 1 0 MTMR9 66036 broad.mit.edu 37 8 11177238 11177238 + Silent SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:11177238C>T uc003wtm.2 + 9 1775 c.1377C>T c.(1375-1377)TCC>TCT p.S459S MTMR9_uc010lrx.2_Silent_p.S352S|MTMR9_uc011kxa.1_Silent_p.S374S|uc003wtn.1_RNA NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 459 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding 0 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) CTTTGTGGTCCTGGGTTAATC 0.423 NA 36 58 0 0 0.004289 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532360 40532360 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:40532360C>A uc003xnr.2 - 5 586 c.440G>T c.(439-441)TGT>TTT p.C147F ZMAT4_uc003xns.2_Intron NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 147 Matrin-type 3. nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) ACAGAGCCCACAGTATCTGTC 0.498 NA 116 201 5.16181e-52 1.05874e-51 0.00361 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75898471 75898471 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:75898471G>A uc003yan.2 + 2 624 c.249G>A c.(247-249)ATG>ATA p.M83I NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 83 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CCTCTAATATGGAGTATATGG 0.358 NA 51 46 0 0 0.00361 0 0 RIMS2 9699 broad.mit.edu 37 8 104898392 104898392 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:104898392C>A uc003yls.2 + 2 1140 c.899C>A c.(898-900)ACG>AAG p.T300K RIMS2_uc003ylp.2_Missense_Mutation_p.T522K|RIMS2_uc003ylw.2_Missense_Mutation_p.T330K|RIMS2_uc003ylq.2_Missense_Mutation_p.T330K|RIMS2_uc003ylr.2_Missense_Mutation_p.T330K NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 553 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTGGCTTCCACGCCTGAATAT 0.403 NA HNSCC(12;0.0054) 8 25 1.76689e-08 2.18721e-08 0.006214 1 0 LRP12 29967 broad.mit.edu 37 8 105503016 105503016 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:105503016C>A uc003yma.2 - 7 2560 c.2465G>T c.(2464-2466)CGA>CTA p.R822L LRP12_uc003ymb.2_Missense_Mutation_p.R803L|LRP12_uc003ylz.2_Missense_Mutation_p.R228L NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 822 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGGGCCATCTCGATTACTTGG 0.468 NA 14 52 4.3838e-07 5.30969e-07 0.001855 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110516570 110516570 + Nonsense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:110516570G>T uc003yne.2 + 68 10947 c.10843G>T c.(10843-10845)GGA>TGA p.G3615* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3615 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AACATTTGTTGGATTTAAGAA 0.284 NA HNSCC(38;0.096) 4 44 0.00024832 0.000274716 0.009096 1 0 FER1L6 654463 broad.mit.edu 37 8 125025722 125025723 + Missense_Mutation DNP CC CC AA TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:125025722_125025723CC>AA uc003yqw.2 + 15 2079_2080 c.1873_1874CC>AA c.(1873-1875)CCT>AAT p.P625N uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 625 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACAGGAGGCACCTGAAGAGAAA 0.49 NA 26 47 0 0 0.004672 0 0 EPPK1 83481 broad.mit.edu 37 8 144947001 144947001 + Missense_Mutation SNP C C T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr8:144947001C>T uc003zaa.1 - 1 434 c.421G>A c.(421-423)GTT>ATT p.V141I NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 141 Plectin 3. 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) CTGTCCACAACCTCCTTCCCG 0.682 NA 9 30 0 0 0.006214 0 0 PTPRD 5789 broad.mit.edu 37 9 8636710 8636710 + Missense_Mutation SNP G G C TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr9:8636710G>C uc003zkk.2 - 12 910 c.199C>G c.(199-201)CAG>GAG p.Q67E PTPRD_uc003zkp.2_Missense_Mutation_p.Q67E|PTPRD_uc003zkq.2_Missense_Mutation_p.Q67E|PTPRD_uc003zkr.2_Missense_Mutation_p.Q67E|PTPRD_uc003zks.2_Missense_Mutation_p.Q67E|PTPRD_uc003zkl.2_Missense_Mutation_p.Q67E|PTPRD_uc003zkm.2_Missense_Mutation_p.Q67E|PTPRD_uc003zkn.2_Missense_Mutation_p.Q67E|PTPRD_uc003zko.2_Missense_Mutation_p.Q67E|PTPRD_uc003zkt.1_Missense_Mutation_p.Q67E NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 67 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAAATCTCTGATTGCTGACT 0.443 NA TSP Lung(15;0.13) 26 69 0 0 0.003954 0 0 CTSL2 1515 broad.mit.edu 37 9 99799533 99799533 + Splice_Site SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr9:99799533C>A uc004awt.2 - 4 593 c.396_splice c.e4+1 p.Q132_splice CTSL2_uc010msi.2_Splice_Site_p.Q132_splice|CTSL2_uc004awu.2_Splice_Site_p.Q77_splice|CTSL2_uc010msj.1_Splice_Site_p.Q77_splice|CTSL2_uc010msk.2_Splice_Site_p.Q77_splice NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) CGCTGTCTCACCTGATTCTTC 0.483 NA 16 27 1.5739e-10 2.04752e-10 0.004007 1 0 IKBKAP 8518 broad.mit.edu 37 9 111663784 111663784 + Silent SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr9:111663784T>A uc004bdm.3 - 18 2455 c.1935A>T c.(1933-1935)GCA>GCT p.A645A IKBKAP_uc004bdl.2_Silent_p.A296A|IKBKAP_uc011lwc.1_Silent_p.A531A|IKBKAP_uc010mtq.2_Silent_p.A296A NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 645 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CATCATATACTGCAAATGACG 0.408 NA 12 26 0 0 0.001368 0 0 SPTAN1 6709 broad.mit.edu 37 9 131347078 131347078 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr9:131347078G>A uc004bvl.3 + 18 2629 c.2516G>A c.(2515-2517)CGC>CAC p.R839H SPTAN1_uc011mbg.1_Missense_Mutation_p.R839H|SPTAN1_uc011mbh.1_Missense_Mutation_p.R851H|SPTAN1_uc004bvm.3_Missense_Mutation_p.R839H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R839H NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 839 Spectrin 9. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CATGAACCACGCATCAAAGCA 0.488 NSCLC(120;833 1744 2558 35612 37579) NA 29 41 0 0 0.009535 0 0 NUP188 23511 broad.mit.edu 37 9 131745599 131745599 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr9:131745599G>A uc004bws.1 + 18 1846 c.1824G>A c.(1822-1824)GTG>GTA p.V608V NUP188_uc004bwu.2_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 608 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CCCCACCTGTGGATGTCATTG 0.438 NA 52 137 0 0 0.00361 0 0 SCML2 10389 broad.mit.edu 37 X 18278317 18278317 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chrX:18278317C>A uc004cyl.2 - 9 1200 c.1043G>T c.(1042-1044)GGG>GTG p.G348V SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.G348V|SCML2_uc011miz.1_Missense_Mutation_p.G282V|SCML2_uc010nfc.2_Missense_Mutation_p.G84V NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 348 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) TTTACATGGCCCAGAAGCGAC 0.353 Esophageal Squamous(100;1252 1965 19021 35517) NA 27 15 9.65021e-13 1.31e-12 0.010818 1 0 CAPN6 827 broad.mit.edu 37 X 110496280 110496280 + Silent SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chrX:110496280G>T uc004epc.1 - 4 630 c.462C>A c.(460-462)TCC>TCA p.S154S CAPN6_uc011msu.1_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 154 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 ACTCATTCATGGAAGTGGAGA 0.433 NA 40 13 1.47244e-24 2.44827e-24 0.00623 1 0 ENOX2 10495 broad.mit.edu 37 X 129837188 129837188 + Missense_Mutation SNP C C A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chrX:129837188C>A uc004evw.2 - 5 508 c.90G>T c.(88-90)ATG>ATT p.M30I ENOX2_uc004evx.2_Missense_Mutation_p.M1I|ENOX2_uc004evy.2_Missense_Mutation_p.M1I NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 30 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 TAGGTAGTGTCATTGCAGTGG 0.418 Ovarian(101;828 1506 2951 9500 35258) NA 54 13 1.93748e-29 3.46772e-29 0.00361 1 0 PROX1 5629 broad.mit.edu 37 1 214171394 214171394 + Frame_Shift_Del DEL G G - TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr1:214171394delG uc001hkh.2 + 2 1788 c.1516delG c.(1516-1518)GGAfs p.G506fs PROX1_uc001hkg.1_Frame_Shift_Del_p.G506fs NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 506 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTCCTTCTCTGGAAAAGACAG 0.557 NA 98 65 --- --- --- --- NA NA NA NA NA FAM119B 25895 broad.mit.edu 37 12 58174037 58174037 + Splice_Site DEL G G - rs143311691 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr12:58174037delG uc001sqg.2 + 3 415 c.290_splice c.e3-1 p.G97_splice FAM119B_uc001sqf.2_Splice_Site_p.R143_splice|FAM119B_uc009zqd.2_Splice_Site|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank NM_015433 NP_056248 Q96AZ1 MT21B_HUMAN hypothetical protein LOC25895 isoform a integral to membrane|intracellular methyltransferase activity 0 all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CTCTCTCTCAGGGGGGGATGT 0.582 NA 35 15 --- --- --- --- NA NA NA NA NA ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 CCA CCA - - CCA CCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr13:100635008_100635010delCCA uc001von.2 + 1 690_692 c.690_692delCCA c.(688-693)GCCCAC>GCC p.H239del NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 239 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His. Missing.|H -> HH. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.522 Pancreas(97;119 1522 31925 44771 48764) NA 7 92 --- --- --- --- NA NA NA NA NA ARHGEF15 22899 broad.mit.edu 37 17 8215575 8215576 + Frame_Shift_Ins INS - - T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr17:8215575_8215576insT uc002glc.2 + 2 339_340 c.218_219insT c.(217-219)CCTfs p.P73fs ARHGEF15_uc002glb.1_Frame_Shift_Ins_p.P73fs|ARHGEF15_uc002gld.2_Frame_Shift_Ins_p.P73fs|ARHGEF15_uc010vuw.1_Frame_Shift_Ins_p.P73fs NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 73 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CTCAAGCCCCCTGCTCTTTTGC 0.614 NA 35 31 --- --- --- --- NA NA NA NA NA CD226 10666 broad.mit.edu 37 18 67614136 67614136 + Frame_Shift_Del DEL C C - TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr18:67614136delC uc010dqo.2 - 2 663 c.216delG c.(214-216)AGGfs p.R72fs CD226_uc002lkm.3_Frame_Shift_Del_p.R72fs NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 72 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) CATAGGGCTTCCTTATGACCA 0.453 NSCLC(184;838 2130 8673 21498 50749) NA 42 44 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1220663 1220676 + Frame_Shift_Del DEL CCTGGACACCTTCT CCTGGACACCTTCT - TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 CCTGGACACCTTCT CCTGGACACCTTCT - - CCTGGACACCTTCT CCTGGACACCTTCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr19:1220663_1220676delCCTGGACACCTTCT uc002lrl.1 + 5 1796_1809 c.681_694delCCTGGACACCTTCT c.(679-696)GGCCTGGACACCTTCTCCfs p.G227fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 227_232 Protein kinase. S -> P (in sporadic cancer; somatic mutation; no effect heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.F231L(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCCAACGGCCTGGACACCTTCTCCGGCTTCAA 0.701 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 17 12 --- --- --- --- NA NA NA NA NA SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr20:4850569delG uc002wlg.1 - 12 1608 c.1233delC c.(1231-1233)CCCfs p.P411fs SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.2_Frame_Shift_Del_p.P410fs NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 TTGCGTGGATGGGGGGGGGTG 0.527 NA 11 139 --- --- --- --- NA NA NA NA NA C3orf19 51244 broad.mit.edu 37 3 14712602 14712603 + Frame_Shift_Ins INS - - A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr3:14712602_14712603insA uc003byw.2 + 11 1396_1397 c.1305_1306insA c.(1303-1308)CATACGfs p.H435fs C3orf19_uc010hej.2_Frame_Shift_Ins_p.H264fs NM_016474 NP_057558 Q6PII3 CC019_HUMAN hypothetical protein LOC51244 435_436 0 GCCCTGAACATACGTCACCCAC 0.55 NA 40 18 --- --- --- --- NA NA NA NA NA ZNF608 57507 broad.mit.edu 37 5 123982754 123982762 + In_Frame_Del DEL TACTTCTCA TACTTCTCA - TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 TACTTCTCA TACTTCTCA - - TACTTCTCA TACTTCTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr5:123982754_123982762delTACTTCTCA uc003ktq.1 - 4 3438_3446 c.3315_3323delTGAGAAGTA c.(3313-3324)TATGAGAAGTAC>TAC p.1105_1108YEKY>Y ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_In_Frame_Del_p.1105_1108YEKY>Y|ZNF608_uc003ktt.1_In_Frame_Del_p.1105_1108YEKY>Y|ZNF608_uc003ktp.1_5'Flank NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1105_1108 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GTCCTCATAGTACTTCTCATACTGCTGTC 0.522 NA 27 81 --- --- --- --- NA NA NA NA NA HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 128f52c7-49dc-4a9f-a5bc-1c14684edc9c 1339361e-fe70-4584-a7cd-946ccd8476bc g.chr6:29694802_29694803insT uc003nno.3 + 7 1303_1304 c.1179_1180insT c.(1177-1182)TTGTTTfs p.L393fs HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA NM_001098479 NP_001091949 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 TGTGGATCTTGTTTTTTTTGTG 0.535 NA 9 335 --- --- --- --- NA NA NA NA NA