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 PLCH2 9651 broad.mit.edu 37 1 2420731 2420731 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:2420731G>A uc001aji.1 + 9 1595 c.1321G>A c.(1321-1323)GAC>AAC p.D441N PLCH2_uc010nyz.1_Missense_Mutation_p.D229N|PLCH2_uc009vle.1_Missense_Mutation_p.D229N|PLCH2_uc001ajj.1_Missense_Mutation_p.D229N|PLCH2_uc001ajk.1_Missense_Mutation_p.D229N NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 441 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CATCCTTGGGGACAAGCTGGA 0.552 NA 16 65 0 0 0.004007 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331296 17331296 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:17331296G>A uc001baa.2 - 5 558 c.368C>T c.(367-369)TCC>TTC p.S123F ATP13A2_uc001bab.2_Missense_Mutation_p.S123F|ATP13A2_uc001bac.2_Missense_Mutation_p.S123F NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 123 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CTCTGCCTGGGACTGTGGGGA 0.662 NA 13 78 0 0 0.00245 0 0 PADI4 23569 broad.mit.edu 37 1 17666217 17666217 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:17666217G>A uc001baj.2 + 6 589 c.561G>A c.(559-561)ACG>ACA p.T187T PADI4_uc009vpc.2_Silent_p.T187T NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 187 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCCTGAGCACGAAGACCCCCA 0.562 NA 9 37 0 0 0.004482 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17991008 17991008 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:17991008C>G uc001ban.2 + 26 3086 c.2927C>G c.(2926-2928)ACC>AGC p.T976S ARHGEF10L_uc009vpe.1_Missense_Mutation_p.T937S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.T937S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.T932S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.T737S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.T749S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.T679S|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 976 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CCTGTCCGCACCCTGTTGAGC 0.672 NA 5 18 0 0 0.001984 0 0 BSND 7809 broad.mit.edu 37 1 55472787 55472787 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:55472787C>T uc001cye.2 + 3 633 c.390C>T c.(388-390)TCC>TCT p.S130S NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 130 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 ACCACCGCTCCTTGCTGGCCC 0.607 Ovarian(191;1657 2078 22894 42033 48899) NA 5 55 0 0 0.001984 0 0 KANK4 163782 broad.mit.edu 37 1 62740490 62740490 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:62740490G>T uc001dah.3 - 3 663 c.286C>A c.(286-288)CCA>ACA p.P96T KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 96 ovary(3)|skin(2)|lung(1) 6 GCCTCCCTTGGCACCACGGGA 0.612 NA 16 100 2.48551e-13 3.69662e-13 0.00499 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74507380 74507380 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:74507380C>T uc001dfy.3 - 7 1427 c.1235G>A c.(1234-1236)AGA>AAA p.R412K LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 412 ovary(2) 2 CATACCAGCTCTTTGTGGTGC 0.368 NA 37 82 0 0 0.004878 0 0 C1orf173 127254 broad.mit.edu 37 1 75086594 75086594 + Nonsense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:75086594G>C uc001dgg.2 - 8 1043 c.824C>G c.(823-825)TCA>TGA p.S275* uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.S69* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 275 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AATCCTTCTTGAATCCTGAAA 0.318 NA 4 39 0 0 0.009096 0 0 FUBP1 8880 broad.mit.edu 37 1 78425923 78425923 + Nonsense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:78425923G>A uc001dii.2 - 16 1611 c.1522C>T c.(1522-1524)CAG>TAG p.Q508* FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.Q529* NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 508 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 CCCCATCCCTGGGGAGCATAT 0.438 NA 11 62 0 0 0.008291 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050444 110050444 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:110050444T>C uc001dxx.3 - 2 1473 c.1091A>G c.(1090-1092)CAC>CGC p.H364R NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN AMIGO protein precursor 364 Extracellular (Potential). axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane ovary(1)|breast(1) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) ATGGTGTCCGTGCAAGGTGAA 0.517 NA 7 49 0 0 0.00308 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882871 144882871 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:144882871G>T uc001elw.3 - 24 3439 c.3148C>A c.(3148-3150)CTG>ATG p.L1050M NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1116M|PDE4DIP_uc001elv.3_Missense_Mutation_p.L57M NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1050 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) CAAAGGCTCAGCATGGTGTTC 0.493 NA T PDGFRB MPD 20 275 2.21704e-12 3.28539e-12 0.00278 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144915608 144915608 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:144915608C>A uc001elw.3 - 14 2108 c.1817G>T c.(1816-1818)GGA>GTA p.G606V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.G672V|PDE4DIP_uc001emc.1_Missense_Mutation_p.G606V|PDE4DIP_uc001emd.1_Missense_Mutation_p.G606V|PDE4DIP_uc001emb.1_Missense_Mutation_p.G769V|PDE4DIP_uc001eme.1_Missense_Mutation_p.G135V|PDE4DIP_uc001emf.1_Missense_Mutation_p.G391V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 606 Potential. 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) CTGCCCTGGTCCAAGTTTGCA 0.468 NA T PDGFRB MPD 20 107 8.04996e-18 1.26632e-17 0.001882 1 0 VPS45 11311 broad.mit.edu 37 1 150039930 150039930 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:150039930G>T uc001etp.2 + 1 589 c.16G>T c.(16-18)GCT>TCT p.A6S VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_5'UTR|VPS45_uc010pbs.1_Intron|VPS45_uc009wlm.1_Missense_Mutation_p.A6S|VPS45_uc010pbr.1_Intron NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 6 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CGTGGTTTTTGCTGTGAAGCA 0.498 NA 33 92 4.14481e-20 6.67412e-20 0.00623 1 0 FLG 2312 broad.mit.edu 37 1 152286898 152286898 + Missense_Mutation SNP C C A rs113297198 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:152286898C>A uc001ezu.1 - 3 500 c.464G>T c.(463-465)AGT>ATT p.S155I uc001ezv.2_Intron NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 155 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTTTCAGAACTAGATTCATG 0.353 NA Ichthyosis 26 150 5.45024e-15 8.31772e-15 0.00333 1 0 LCE1F 353137 broad.mit.edu 37 1 152748857 152748857 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:152748857C>A uc010pdv.1 + 1 10 c.10C>A c.(10-12)CAG>AAG p.Q4K NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 4 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GATGTCTTGCCAGCAGAGCCA 0.368 NA 6 41 8.12818e-05 9.33828e-05 0.001984 1 0 RHBG 57127 broad.mit.edu 37 1 156354339 156354339 + Missense_Mutation SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:156354339T>G uc010pho.1 + 9 1294 c.1256T>G c.(1255-1257)TTT>TGT p.F419C RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.F350C|RHBG_uc009wrz.2_Missense_Mutation_p.F387C|RHBG_uc001for.2_Missense_Mutation_p.F389C NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 419 Interaction with ANK3.|Cytoplasmic (Potential). F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421. transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) AAGCTACCCTTTCTGGACTCC 0.627 NA OREG0013871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 45 0 0 0.00245 0 0 ATP1A4 480 broad.mit.edu 37 1 160125911 160125911 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:160125911C>T uc001fve.3 + 4 967 c.488C>T c.(487-489)TCC>TTC p.S163F ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 163 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) GCCAAGAGCTCCAAGATCATG 0.512 NA 14 72 0 0 0.003163 0 0 FCRLA 84824 broad.mit.edu 37 1 161680999 161680999 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:161680999C>A uc001gbe.2 + 4 545 c.303C>A c.(301-303)GAC>GAA p.D101E FCRLA_uc001gbd.2_Missense_Mutation_p.D95E|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 78 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGACCATAGACTGGCTGATCC 0.592 NA 3 18 0.004672 0.00500222 0.004672 1 0 XCL2 6846 broad.mit.edu 37 1 168511287 168511287 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:168511287C>T uc001gfn.3 - 2 153 c.120G>A c.(118-120)CTG>CTA p.L40L NM_003175 NP_003166 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 precursor 40 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity ovary(1) 1 all_hematologic(923;0.215) TGCTAACTGGCAGTCGCTGGG 0.483 NA 8 56 0 0 0.006214 0 0 XCL1 6375 broad.mit.edu 37 1 168549359 168549359 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:168549359G>A uc001gfo.1 + 2 140 c.120G>A c.(118-120)CTG>CTA p.L40L NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 40 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) CCCAGCGACTGCCGGTTAGCA 0.473 NA 15 126 0 0 0.006122 0 0 KLHL20 27252 broad.mit.edu 37 1 173703228 173703228 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:173703228G>A uc001gjc.2 + 3 579 c.400G>A c.(400-402)GAA>AAA p.E134K KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.E116K|KLHL20_uc001gjd.2_Missense_Mutation_p.E134K NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 134 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 GATAACAGTAGAAGAGGGCAA 0.473 GBM(159;862 2695 6559 23041) NA 9 63 0 0 0.006214 0 0 TNR 7143 broad.mit.edu 37 1 175355420 175355420 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:175355420G>C uc001gkp.1 - 6 1606 c.1525C>G c.(1525-1527)CAG>GAG p.Q509E TNR_uc009wwu.1_Missense_Mutation_p.Q509E NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 509 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACCAGGATCTGCGTGGGGCCG 0.443 NA 2 18 0 0 0.009096 0 0 TNR 7143 broad.mit.edu 37 1 175365934 175365934 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:175365934G>C uc001gkp.1 - 3 1067 c.986C>G c.(985-987)CCA>CGA p.P329R TNR_uc009wwu.1_Missense_Mutation_p.P329R|TNR_uc010pmz.1_Intron NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 329 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CAAGTCCTCTGGAGGGGCAAC 0.557 NA 20 98 0 0 0.002096 0 0 FAM20B 9917 broad.mit.edu 37 1 179013192 179013192 + Nonsense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:179013192G>A uc001gmc.2 + 2 503 c.210G>A c.(208-210)TGG>TGA p.W70* NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 70 Lumenal (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 CAGCCCAGTGGGTGGTTCCCC 0.562 NA 8 48 0 0 0.00308 0 0 FAM5C 339479 broad.mit.edu 37 1 190423887 190423887 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:190423887T>C uc001gse.1 - 2 366 c.134A>G c.(133-135)GAC>GGC p.D45G FAM5C_uc010pot.1_Missense_Mutation_p.T7A NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 45 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GAGGAGCCAGTCGAAGGGGCT 0.498 NA 5 25 0 0 0.000602 0 0 KCNT2 343450 broad.mit.edu 37 1 196227445 196227445 + Silent SNP A A C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:196227445A>C uc001gtd.1 - 26 3150 c.3090T>G c.(3088-3090)GGT>GGG p.G1030G KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.G963G|KCNT2_uc001gtf.1_Silent_p.G1006G|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Silent_p.G534G NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1030 Cytoplasmic (Potential).|ATP (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CAGCTGTTTTACCAGAGTGTT 0.473 NA 9 77 0 0 0.006214 0 0 ASPM 259266 broad.mit.edu 37 1 197059495 197059495 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:197059495C>A uc001gtu.2 - 24 9917 c.9660G>T c.(9658-9660)TGG>TGT p.W3220C ASPM_uc001gtv.2_Missense_Mutation_p.W1635C|ASPM_uc001gtw.3_Missense_Mutation_p.W1068C NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3220 IQ 39. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTTTCTTCCTCCAAGAATAGC 0.303 NA 8 43 0.000157383 0.000177817 0.00308 1 0 ASPM 259266 broad.mit.edu 37 1 197112565 197112565 + Nonsense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:197112565C>A uc001gtu.2 - 3 1074 c.817G>T c.(817-819)GAG>TAG p.E273* ASPM_uc001gtv.2_Nonsense_Mutation_p.E273*|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 273 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ACAGCTTTCTCATTAAAAGAA 0.363 NA 21 134 3.51602e-12 5.17284e-12 0.008871 1 0 CRB1 23418 broad.mit.edu 37 1 197390222 197390222 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:197390222C>T uc001gtz.2 + 6 1399 c.1264C>T c.(1264-1266)CAT>TAT p.H422Y CRB1_uc010poz.1_Missense_Mutation_p.H353Y|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.H310Y|CRB1_uc010ppb.1_Missense_Mutation_p.H422Y|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.H71Y NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 422 Extracellular (Potential).|EGF-like 10; calcium-binding (Potential). 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 TTATACTTGCCATTGCCCATT 0.413 NA 39 152 0 0 0.00623 0 0 KIF21B 23046 broad.mit.edu 37 1 200960801 200960801 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:200960801C>T uc001gvs.1 - 17 2755 c.2438G>A c.(2437-2439)AGG>AAG p.R813K KIF21B_uc001gvr.1_Missense_Mutation_p.R813K|KIF21B_uc009wzl.1_Missense_Mutation_p.R813K|KIF21B_uc010ppn.1_Missense_Mutation_p.R813K NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 813 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GGTCTTCCTCCTCAGGACCAT 0.607 NA 7 39 0 0 0.006214 0 0 KIF21B 23046 broad.mit.edu 37 1 200969654 200969654 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:200969654G>C uc001gvs.1 - 11 1866 c.1549C>G c.(1549-1551)CTG>GTG p.L517V KIF21B_uc001gvr.1_Missense_Mutation_p.L517V|KIF21B_uc009wzl.1_Missense_Mutation_p.L517V|KIF21B_uc010ppn.1_Missense_Mutation_p.L517V NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 517 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GAAGCACCCAGGGAGTAGGGG 0.662 NA 10 89 0 0 0.008291 0 0 IGFN1 91156 broad.mit.edu 37 1 201187763 201187763 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:201187763C>A uc001gwc.2 + 7 2127 c.1355C>A c.(1354-1356)GCT>GAT p.A452D IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CCATCGGATGCTGTCTTTGCT 0.627 NA 8 26 7.48243e-07 9.50408e-07 0.006214 1 0 CR2 1380 broad.mit.edu 37 1 207649641 207649641 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:207649641G>T uc001hfw.2 + 14 2696 c.2602G>T c.(2602-2604)GCT>TCT p.A868S CR2_uc001hfv.2_Missense_Mutation_p.A927S|CR2_uc009xch.2_Intron NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 868 Sushi 14.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TGGAAACATAGCTCGATTTTC 0.507 NA 4 79 0.00909568 0.00963765 0.009096 1 0 PLXNA2 5362 broad.mit.edu 37 1 208270154 208270154 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:208270154C>A uc001hgz.2 - 7 2564 c.1806G>T c.(1804-1806)GTG>GTT p.V602V NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 602 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCTGCCCCTCCACCTCTGTCA 0.562 NA 10 37 7.48243e-07 9.50408e-07 0.006214 1 0 TATDN3 128387 broad.mit.edu 37 1 212976051 212976051 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:212976051T>A uc001hjo.2 + 5 361 c.267T>A c.(265-267)GAT>GAA p.D89E TATDN3_uc010ptj.1_Missense_Mutation_p.D89E|TATDN3_uc010ptk.1_Missense_Mutation_p.D89E|TATDN3_uc001hjp.2_Missense_Mutation_p.D89E|TATDN3_uc010ptl.1_Intron|TATDN3_uc010ptm.1_Missense_Mutation_p.D37E NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 89 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) AGGATTTGGATGTAGCTTTGC 0.264 NA 14 86 0 0 0.003163 0 0 SUSD4 55061 broad.mit.edu 37 1 223465926 223465926 + Silent SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:223465926T>C uc001hnx.2 - 2 850 c.216A>G c.(214-216)GGA>GGG p.G72G SUSD4_uc001hny.3_Silent_p.G72G|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.G72G|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 72 Sushi 1.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) AGAAAACCCCTCCGCTGGGGG 0.502 NA 10 81 0 0 0.001368 0 0 C1orf69 200205 broad.mit.edu 37 1 228362874 228362874 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:228362874A>T uc001hsl.3 + 3 820 c.731A>T c.(730-732)GAG>GTG p.E244V C1orf69_uc010pvw.1_Missense_Mutation_p.E51V NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 244 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CTGCCCCTGGAGTCCAACCTG 0.632 NA 10 85 0 0 0.008291 0 0 RHOU 58480 broad.mit.edu 37 1 228879403 228879403 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:228879403G>T uc001htf.2 + 3 1314 c.693G>T c.(691-693)CAG>CAT p.Q231H NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN ras homolog gene family, member U 231 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding 0 Breast(184;0.162) Prostate(94;0.183) CTCAGCAACAGCCAAAGAAGT 0.468 NA 18 107 1.33834e-09 1.8246e-09 0.007413 1 0 RYR2 6262 broad.mit.edu 37 1 237813179 237813179 + Silent SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:237813179A>G uc001hyl.1 + 50 7635 c.7515A>G c.(7513-7515)GCA>GCG p.A2505A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2505 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTTTCAGGCAGCTTTGAGTG 0.458 NA 11 102 0 0 0.000978 0 0 RYR2 6262 broad.mit.edu 37 1 237921011 237921011 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:237921011A>T uc001hyl.1 + 82 11380 c.11260A>T c.(11260-11262)ATG>TTG p.M3754L RYR2_uc010pya.1_Missense_Mutation_p.M169L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3754 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACTGGACCAATGGTAGCAGC 0.353 NA 16 82 0 0 0.00499 0 0 OR2T12 127064 broad.mit.edu 37 1 248458341 248458341 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:248458341G>A uc010pzj.1 - 1 540 c.540C>T c.(538-540)CCC>CCT p.P180P NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GCACCAACACGGGGGCCTCGC 0.562 NA 15 63 0 0 0.00499 0 0 OR2T12 127064 broad.mit.edu 37 1 248458344 248458344 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:248458344G>C uc010pzj.1 - 1 537 c.537C>G c.(535-537)GCC>GCG p.A179A NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCAACACGGGGGCCTCGCAGA 0.567 NA 13 60 0 0 0.003163 0 0 OR2M7 391196 broad.mit.edu 37 1 248487249 248487249 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:248487249C>T uc010pzk.1 - 1 622 c.622G>A c.(622-624)GTT>ATT p.V208I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGGGAAAACAAGCATTACT 0.428 NA 96 325 0 0 0.00361 0 0 OR2M7 391196 broad.mit.edu 37 1 248487840 248487840 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:248487840C>T uc010pzk.1 - 1 31 c.31G>A c.(31-33)GAC>AAC p.D11N NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGAGGAAGTCAGAGTTGAAG 0.458 NA 30 186 0 0 0.003271 0 0 MYO3A 53904 broad.mit.edu 37 10 26462618 26462618 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:26462618A>T uc001isn.2 + 30 3785 c.3425A>T c.(3424-3426)GAA>GTA p.E1142V MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1142 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AAACAAGCAGAAAATGCAATC 0.328 NA 4 38 0 0 0.009096 0 0 LRRC18 474354 broad.mit.edu 37 10 50121502 50121502 + Silent SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:50121502T>C uc001jhd.2 - 1 779 c.699A>G c.(697-699)AGA>AGG p.R233R WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Silent_p.R233R NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 233 cytoplasm ovary(1)|pancreas(1) 2 AGATGGTCTTTCTCGGTGTCG 0.522 NA 25 192 0 0 0.003954 0 0 ERCC6 2074 broad.mit.edu 37 10 50679090 50679090 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:50679090G>T uc001jhs.3 - 17 3155 c.3001C>A c.(3001-3003)CTC>ATC p.L1001I ERCC6_uc009xod.2_Missense_Mutation_p.L161I|ERCC6_uc010qgr.1_Missense_Mutation_p.L371I|ERCC6_uc001jhr.3_Missense_Mutation_p.L369I NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1001 Helicase C-terminal. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 AGCTCATAGAGATCATTGGAT 0.328 NA Direct_reversal_of_damage|NER 13 187 2.31682e-05 2.75459e-05 0.003163 1 0 ZWINT 11130 broad.mit.edu 37 10 58119843 58119843 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:58119843C>A uc001jjx.1 - 3 229 c.192G>T c.(190-192)CAG>CAT p.Q64H ZWINT_uc001jjy.1_Missense_Mutation_p.Q64H|ZWINT_uc001jka.1_Missense_Mutation_p.Q64H|ZWINT_uc009xoy.1_Intron NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 64 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 CCAGGATGTTCTGCAGGAAAT 0.562 NA 12 47 4.84862e-15 7.42728e-15 0.000978 1 0 JMJD1C 221037 broad.mit.edu 37 10 64967523 64967523 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:64967523C>A uc001jmn.2 - 10 4206 c.3906G>T c.(3904-3906)ATG>ATT p.M1302I JMJD1C_uc001jml.2_Missense_Mutation_p.M1083I|JMJD1C_uc001jmm.2_Missense_Mutation_p.M1014I|JMJD1C_uc010qiq.1_Missense_Mutation_p.M1120I|JMJD1C_uc009xpi.2_Missense_Mutation_p.M1120I|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.M339I NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1302 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TGACAGATGCCATAGCAGCCT 0.423 NA 35 151 1.42033e-22 2.333e-22 0.004289 1 0 VCL 7414 broad.mit.edu 37 10 75874084 75874084 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:75874084G>T uc001jwd.2 + 20 3186 c.3092G>T c.(3091-3093)CGG>CTG p.R1031L VCL_uc009xrr.2_Missense_Mutation_p.R712L|VCL_uc010qky.1_Missense_Mutation_p.R938L|VCL_uc001jwe.2_Missense_Mutation_p.R963L|VCL_uc010qkz.1_Missense_Mutation_p.R224L NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 1031 C-terminal tail.|Facilitates phospholipid membrane insertion (By similarity). adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) GAGGTGACTCGGTTGGCCAAG 0.498 NA 8 42 1.12685e-05 1.35554e-05 0.004482 1 0 SH2D4B 387694 broad.mit.edu 37 10 82369203 82369203 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:82369203G>T uc001kck.1 + 6 1311 c.881G>T c.(880-882)CGC>CTC p.R294L SH2D4B_uc001kcl.1_Missense_Mutation_p.R246L|SH2D4B_uc001kcm.1_Missense_Mutation_p.R41L NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 293 0 Colorectal(32;0.229) CGCCCGCTGCGCCCAGTCTCC 0.542 NA 4 61 2.56e-06 3.1922e-06 0.009096 1 0 FAM190B 54462 broad.mit.edu 37 10 86259667 86259667 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:86259667G>T uc001kdh.1 + 10 2556 c.2362G>T c.(2362-2364)GGC>TGC p.G788C FAM190B_uc010qmd.1_Intron|FAM190B_uc001kdi.1_Intron|FAM190B_uc010qme.1_Missense_Mutation_p.G215C NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 788 ovary(3)|skin(1) 4 TCCTTGGCAGGGCTCCTTCCA 0.527 NA 8 85 3.09899e-07 3.99838e-07 0.004482 1 0 PLCE1 51196 broad.mit.edu 37 10 95892185 95892185 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:95892185T>A uc001kjk.2 + 3 2095 c.1461T>A c.(1459-1461)TTT>TTA p.F487L PLCE1_uc010qnx.1_Missense_Mutation_p.F487L|PLCE1_uc001kjm.2_Missense_Mutation_p.F179L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 487 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TCAGTACTTTTGGAGGATCCA 0.433 NA 19 107 0 0 0.010504 0 0 CNNM1 26507 broad.mit.edu 37 10 101090479 101090479 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:101090479C>T uc001kpp.3 + 1 1624 c.1335C>T c.(1333-1335)GAC>GAT p.D445D CNNM1_uc009xwe.2_Silent_p.D445D|CNNM1_uc010qpi.1_Silent_p.D445D|CNNM1_uc009xwf.2_Silent_p.D445D NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 445 CBS 1. ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TGCGCTCAGACGCGGTGCTCG 0.602 NA 5 35 0 0 0.001168 0 0 WNT8B 7479 broad.mit.edu 37 10 102242208 102242208 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:102242208C>T uc001krb.2 + 6 805 c.691C>T c.(691-693)CGC>TGC p.R231C NM_003393 NP_003384 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, 231 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(1)|breast(1)|large_intestine(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) CGCGGCCGGCCGCGGCGCCAT 0.667 NA OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 0 0 0.009096 0 0 NEURL 9148 broad.mit.edu 37 10 105330655 105330655 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:105330655A>G uc001kxh.2 + 2 522 c.112A>G c.(112-114)ACT>GCT p.T38A NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 38 nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTTCCCCGTCACTTCTCACCG 0.652 NA 48 234 0 0 0.00361 0 0 VAX1 11023 broad.mit.edu 37 10 118896116 118896116 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:118896116C>A uc009xyx.2 - 2 541 c.296G>T c.(295-297)CGG>CTG p.R99L VAX1_uc001ldb.1_Missense_Mutation_p.R99L NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 99 nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) CCTCTTAGGCCGGTCCAAGTC 0.657 NA 10 22 0.00621372 0.00661825 0.006214 1 0 CPXM2 119587 broad.mit.edu 37 10 125521558 125521558 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:125521558G>A uc001lhk.1 - 11 1932 c.1607C>T c.(1606-1608)ACG>ATG p.T536M CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 536 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTGTTCCTGCGTCTTCCAGGG 0.657 NA 10 74 0 0 0.000978 0 0 LOC338651 338651 broad.mit.edu 37 11 1618918 1618918 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:1618918G>T uc009ycx.1 + 2 769 c.18G>T c.(16-18)AGG>AGT p.R6S LOC338651_uc001ltt.1_RNA|KRTAP5-2_uc001ltv.2_3'UTR NR_021489 SubName: Full=cDNA FLJ30579 fis, clone BRAWH2006989, weakly similar to DNA-DIRECTED RNA POLYMERASE II LARGEST SUBUNIT; EC=2.7.7.6; 0 CACCAAACAGGAGAAACCTGA 0.547 NA 6 50 0.00198382 0.00214651 0.001984 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651183 1651183 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:1651183G>T uc001lty.2 + 1 151 c.113G>T c.(112-114)TGT>TTT p.C38F NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 38 keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) tgtgggggctgtggctccggc 0.09 NA 4 25 1.23904e-05 1.48612e-05 0.000602 1 0 OSBPL5 114879 broad.mit.edu 37 11 3121425 3121425 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:3121425C>T uc001lxk.2 - 14 1742 c.1584G>A c.(1582-1584)GAG>GAA p.E528E OSBPL5_uc010qxq.1_Silent_p.E439E|OSBPL5_uc009ydw.2_Silent_p.E460E|OSBPL5_uc001lxl.2_Silent_p.E460E|OSBPL5_uc009ydx.2_Silent_p.E552E NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 528 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGGTGTAATCCTCGGCTCGGT 0.607 NA 3 18 0 0 0.009096 0 0 TEAD1 7003 broad.mit.edu 37 11 12886397 12886397 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:12886397A>G uc001mkj.3 + 5 900 c.235A>G c.(235-237)ATT>GTT p.I79V TEAD1_uc009ygk.2_RNA NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 94 TEA. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTCTAGTCACATTCAGGTTCT 0.473 NA 25 110 0 0 0.007291 0 0 DGKZ 8525 broad.mit.edu 37 11 46389247 46389247 + Missense_Mutation SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:46389247T>G uc001ncn.1 + 4 1008 c.883T>G c.(883-885)TCC>GCC p.S295A DGKZ_uc001nch.1_Missense_Mutation_p.S123A|DGKZ_uc010rgq.1_Missense_Mutation_p.S72A|DGKZ_uc001ncj.1_Missense_Mutation_p.S72A|DGKZ_uc010rgr.1_Missense_Mutation_p.S71A|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.S106A|DGKZ_uc001ncm.2_Missense_Mutation_p.S106A|DGKZ_uc009yky.1_Missense_Mutation_p.S106A|DGKZ_uc010rgs.1_Missense_Mutation_p.S106A|DGKZ_uc001nci.1_Missense_Mutation_p.S72A NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 295 Phorbol-ester/DAG-type 1. 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) GACCAACGTGTCCGGGGACTT 0.647 NA OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 30 0 0 0.001984 0 0 LOC440040 440040 broad.mit.edu 37 11 49598269 49598269 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:49598269G>A uc010rhy.1 + 2 860 c.382G>A c.(382-384)GTC>ATC p.V128I LOC440040_uc009ymb.2_Missense_Mutation_p.V128I NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 AGCCATTCAGGTCCAGAATTT 0.488 NA 6 18 0 0 0.00308 0 0 OR4A16 81327 broad.mit.edu 37 11 55111517 55111517 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:55111517A>G uc010rie.1 + 1 841 c.841A>G c.(841-843)AAT>GAT p.N281D NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 ACTCATGTTGAATCCTTTAAT 0.318 NA 12 62 0 0 0.000978 0 0 OR8H1 219469 broad.mit.edu 37 11 56057612 56057612 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:56057612G>T uc010rje.1 - 1 927 c.927C>A c.(925-927)GAC>GAA p.D309E NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) ATTACCTGGAGTCCTGTCTTC 0.328 NA 22 162 3.83957e-06 4.71587e-06 0.00278 1 0 OR5M8 219484 broad.mit.edu 37 11 56258326 56258326 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:56258326T>A uc001nix.1 - 1 521 c.521A>T c.(520-522)AAT>ATT p.N174I NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GTAGAAGTGATTAATTTCATT 0.493 NA 14 64 0 0 0.00245 0 0 OR4D6 219983 broad.mit.edu 37 11 59225048 59225048 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:59225048G>T uc010rku.1 + 1 615 c.615G>T c.(613-615)CTG>CTT p.L205L NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACAACGGACTGGTGACCCTGC 0.542 NA 28 63 4.87955e-14 7.36435e-14 0.005443 1 0 MS4A1 931 broad.mit.edu 37 11 60235910 60235910 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:60235910C>A uc001npp.2 + 8 1279 c.863C>A c.(862-864)TCC>TAC p.S288Y MS4A1_uc001npq.2_Missense_Mutation_p.S288Y|MS4A1_uc009yna.2_Missense_Mutation_p.S288Y|MS4A1_uc009ymz.2_Missense_Mutation_p.S275Y|MS4A1_uc010rlc.1_Missense_Mutation_p.S121Y NM_152866 NP_690605 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 288 Cytoplasmic (Potential). B cell activation|immune response integral to plasma membrane ovary(3)|lung(2) 5 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GATCAGGAATCCTCACCAATA 0.378 NA 4 68 3.59834e-05 4.26585e-05 0.001168 1 0 C11orf9 745 broad.mit.edu 37 11 61541490 61541490 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:61541490G>T uc001nsc.1 + 8 1263 c.1167G>T c.(1165-1167)GTG>GTT p.V389V C11orf9_uc001nse.1_Silent_p.V380V NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 389 NDT80. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ACTTTTCGGTGGGCGACGACG 0.652 NA 6 28 0.00116845 0.00128122 0.001168 1 0 HNRNPUL2 221092 broad.mit.edu 37 11 62488849 62488849 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:62488849A>T uc001nuw.2 - 9 1722 c.1529T>A c.(1528-1530)CTT>CAT p.L510H HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 510 cell killing nucleus ATP binding|nucleic acid binding 0 CTGAACTAAAAGGTCTCGGCT 0.413 NA 27 291 0 0 0.002445 0 0 ATG2A 23130 broad.mit.edu 37 11 64678617 64678617 + Silent SNP C C A rs151243555 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:64678617C>A uc001obx.2 - 10 1474 c.1359G>T c.(1357-1359)ACG>ACT p.T453T NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 453 protein binding ovary(1)|central_nervous_system(1) 2 TGAAAAAGTGCGTGGCGAGGT 0.607 NA 4 52 0.00024832 0.000279019 0.009096 1 0 MMP27 64066 broad.mit.edu 37 11 102565698 102565698 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:102565698C>T uc001phd.1 - 7 1056 c.1033G>A c.(1033-1035)GAT>AAT p.D345N NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 345 Hemopexin-like 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GCCAGGTTACCTTTAAAAACC 0.448 NA 15 23 0 0 0.004007 0 0 DDI1 414301 broad.mit.edu 37 11 103907640 103907640 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:103907640C>A uc001phr.2 + 1 333 c.90C>A c.(88-90)TTC>TTA p.F30L PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 30 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TCCGAAACTTCAAGGTCCTCT 0.557 NA 36 95 3.09479e-21 5.02289e-21 0.006999 1 0 CADM1 23705 broad.mit.edu 37 11 115080337 115080337 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:115080337G>A uc001ppi.3 - 8 1164 c.1035C>T c.(1033-1035)ACC>ACT p.T345T CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T97T NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 345 Extracellular (Potential). PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggtggtggttg 0.269 NA 5 44 0 0 0.000602 0 0 OAF 220323 broad.mit.edu 37 11 120097542 120097542 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:120097542G>A uc001pxb.2 + 3 625 c.384G>A c.(382-384)GTG>GTA p.V128V NM_178507 NP_848602 Q86UD1 OAF_HUMAN OAF homolog precursor 128 0 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) CCCGGGCAGTGCGGCAGGCGG 0.607 NA 6 54 0 0 0.004482 0 0 OR10G9 219870 broad.mit.edu 37 11 123894188 123894188 + Missense_Mutation SNP G G T rs144713433 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:123894188G>T uc010sad.1 + 1 469 c.469G>T c.(469-471)GTC>TTC p.V157F NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GCACTCTGCTGTCCAGACCAT 0.557 NA 64 93 5.00163e-47 8.45317e-47 0.00361 1 0 CCDC15 80071 broad.mit.edu 37 11 124857203 124857203 + Nonsense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:124857203C>T uc001qbm.3 + 8 1340 c.1081C>T c.(1081-1083)CAG>TAG p.Q361* NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 361 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) GCCAGATACCCAGGCTGTTGA 0.473 NA 43 101 0 0 0.002522 0 0 ST14 6768 broad.mit.edu 37 11 130064043 130064043 + Splice_Site SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr11:130064043G>T uc001qfw.2 + 8 1069 c.876_splice c.e8-1 p.Q292_splice ST14_uc010sca.1_Splice_Site_p.Q102_splice NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TGCCCCCACAGGTTGTGTGGC 0.602 NA 11 93 6.40141e-05 7.48051e-05 0.000978 1 0 GALNT8 26290 broad.mit.edu 37 12 4873146 4873146 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:4873146G>C uc001qne.1 + 9 1618 c.1526G>C c.(1525-1527)TGC>TCC p.C509S NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 509 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 GAAAATGTCTGCTTGGATCAG 0.512 Colon(108;631 1558 7270 20097 39846) NA 7 51 0 0 0.00308 0 0 SLC2A14 144195 broad.mit.edu 37 12 7967074 7967074 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:7967074C>A uc001qtk.2 - 16 2194 c.1401G>T c.(1399-1401)TTG>TTT p.L467F SLC2A14_uc001qtl.2_Missense_Mutation_p.L444F|SLC2A14_uc001qtm.2_Missense_Mutation_p.L444F|SLC2A14_uc010sgg.1_Missense_Mutation_p.L358F|SLC2A14_uc001qtn.2_Missense_Mutation_p.L467F|SLC2A14_uc001qto.2_Missense_Mutation_p.L102F|SLC2A14_uc010sgh.1_Missense_Mutation_p.L482F NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 467 Helical; Name=12; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) AGGTAAAGGCCAAGAAGGTAA 0.453 NA 11 55 3.86212e-05 4.55218e-05 0.008291 1 0 ZNF705A 440077 broad.mit.edu 37 12 8329650 8329650 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:8329650G>A uc001qud.1 + 5 446 c.374G>A c.(373-375)TGC>TAC p.C125Y NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) GGAGAAGATTGCACTCACAGT 0.393 NA 28 118 0 0 0.002445 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768141 13768141 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:13768141C>T uc001rbt.2 - 7 1740 c.1561G>A c.(1561-1563)GAG>AAG p.E521K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 521 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCGACCACCTCCGATCGTTCC 0.502 NA 6 57 0 0 0.001984 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21033901 21033901 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:21033901C>T uc001rek.2 + 11 1570 c.1444C>T c.(1444-1446)CTG>TTG p.L482L SLCO1B3_uc001rel.2_Silent_p.L482L|SLCO1B3_uc010sil.1_Silent_p.L482L|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.L307L NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 482 Extracellular (Potential).|Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AATAACTTACCTGTCACCTTG 0.393 NA 20 122 0 0 0.00278 0 0 ABCC9 10060 broad.mit.edu 37 12 21998656 21998656 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:21998656G>T uc001rfi.1 - 24 2997 c.2977C>A c.(2977-2979)CTG>ATG p.L993M ABCC9_uc001rfh.2_Missense_Mutation_p.L993M|ABCC9_uc001rfj.1_Missense_Mutation_p.L957M NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 993 Helical; Name=12; (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGGATGAGCAGGAAGAATCCT 0.448 NA 15 55 1.05317e-09 1.45523e-09 0.00245 1 0 OR10A7 121364 broad.mit.edu 37 12 55615682 55615682 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:55615682C>A uc010spf.1 + 1 874 c.874C>A c.(874-876)CTG>ATG p.L292M NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 CATCTACGGCCTGAGGAACAA 0.448 NA 7 54 2.17888e-05 2.59814e-05 0.006214 1 0 OR6C70 390327 broad.mit.edu 37 12 55863608 55863608 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:55863608C>A uc010spn.1 - 1 315 c.315G>T c.(313-315)TTG>TTT p.L105F NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGTAACCCCCAAGAATATGT 0.393 NA 11 60 1.36491e-13 2.04487e-13 0.001855 1 0 LRP1 4035 broad.mit.edu 37 12 57595378 57595378 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:57595378G>A uc001snd.2 + 66 10910 c.10444G>A c.(10444-10446)GGC>AGC p.G3482S NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3482 Extracellular (Potential).|LDL-receptor class A 24. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGTGTGGATGGCAGTGATGA 0.642 NA 6 37 0 0 0.001168 0 0 MON2 23041 broad.mit.edu 37 12 62981934 62981934 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:62981934A>G uc001sre.2 + 34 5379 c.4988A>G c.(4987-4989)AAT>AGT p.N1663S MON2_uc009zqj.2_Missense_Mutation_p.N1663S|MON2_uc010ssl.1_Missense_Mutation_p.N1591S|MON2_uc010ssm.1_Missense_Mutation_p.N1634S|MON2_uc010ssn.1_Missense_Mutation_p.N1657S|MON2_uc001srf.2_Missense_Mutation_p.N1426S|MON2_uc001srg.2_Missense_Mutation_p.N532S NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1664 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CAGCCTGAGAATGGTAAGTGC 0.299 NA 7 16 0 0 0.006214 0 0 POC1B 282809 broad.mit.edu 37 12 89860637 89860637 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:89860637G>C uc001tbc.2 - 9 1047 c.942C>G c.(940-942)CTC>CTG p.L314L POC1B_uc001tba.2_Silent_p.L272L|POC1B_uc001tbb.2_Silent_p.L184L|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_RNA NM_172240 NP_758440 Q8TC44 POC1B_HUMAN WD repeat domain 51B 314 cell projection organization centriole|microtubule basal body ovary(1) 1 GTAATCTTTTGAGATTTCTTT 0.348 NA 21 74 0 0 0.008871 0 0 DNAH10 196385 broad.mit.edu 37 12 124298029 124298029 + Missense_Mutation SNP C C T rs138397621 byFrequency TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:124298029C>T uc001uft.3 + 19 3134 c.3109C>T c.(3109-3111)CGC>TGC p.R1037C DNAH10_uc010tav.1_Missense_Mutation_p.R579C|DNAH10_uc010taw.1_Missense_Mutation_p.R522C NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1037 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAGGTTATGCGCCACCCTCT 0.443 NA 3 68 0 0 0.004672 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138770 126138770 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:126138770C>G uc001uhe.1 + 9 2759 c.2751C>G c.(2749-2751)ATC>ATG p.I917M TMEM132B_uc001uhf.1_Missense_Mutation_p.I429M NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 917 Helical; (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCTTCTTGATCAACTGCGTGG 0.532 NA 11 64 0 0 0.001368 0 0 EP400 57634 broad.mit.edu 37 12 132498101 132498101 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:132498101G>T uc001ujn.2 + 17 3713 c.3678G>T c.(3676-3678)GTG>GTT p.V1226V EP400_uc001ujl.2_Silent_p.V1225V|EP400_uc001ujm.2_Silent_p.V1226V NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1262 Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGACCATGGTGCACTTCCTGG 0.552 NA 17 63 2.35188e-11 3.39901e-11 0.006122 1 0 EP400 57634 broad.mit.edu 37 12 132539519 132539519 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr12:132539519G>C uc001ujn.2 + 43 7764 c.7729G>C c.(7729-7731)GCA>CCA p.A2577P EP400_uc001ujl.2_Missense_Mutation_p.A2576P|EP400_uc001ujm.2_Missense_Mutation_p.A2496P NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2613 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TTTTAAATAGGCAGGAACCAT 0.264 NA 5 45 0 0 0.001984 0 0 IFT88 8100 broad.mit.edu 37 13 21166510 21166510 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr13:21166510C>T uc001unh.2 + 9 788 c.392C>T c.(391-393)CCT>CTT p.P131L IFT88_uc001uni.2_Missense_Mutation_p.P122L|IFT88_uc001unj.2_Missense_Mutation_p.P121L|IFT88_uc010tcq.1_Missense_Mutation_p.P102L NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 131 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TCAAGGGGCCCTGCTTCCCCT 0.353 NA 21 57 0 0 0.00278 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33018246 33018246 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr13:33018246T>A uc010abe.1 - 7 450 c.428A>T c.(427-429)AAA>ATA p.K143I N4BP2L2_uc001uug.2_Missense_Mutation_p.K26I|N4BP2L2_uc010abd.1_Missense_Mutation_p.K56I|N4BP2L2_uc001uuh.2_5'UTR|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.K128I NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:Variant_position_missing_in_Q92802_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ATGCCCAGTTTTCTTCAAAAC 0.313 NA 6 33 0 0 0.001168 0 0 SETDB2 83852 broad.mit.edu 37 13 50042023 50042023 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr13:50042023G>C uc001vcz.2 + 6 1174 c.268G>C c.(268-270)GAA>CAA p.E90Q SETDB2_uc010adg.2_Missense_Mutation_p.E66Q|SETDB2_uc001vcy.3_Missense_Mutation_p.E78Q|SETDB2_uc010adh.2_Missense_Mutation_p.E78Q|SETDB2_uc001vda.2_Missense_Mutation_p.E78Q NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 90 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) GACTCAGAAGGAACAGGAAAA 0.323 NA 6 46 0 0 0.001168 0 0 PCDH17 27253 broad.mit.edu 37 13 58240807 58240807 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr13:58240807T>A uc001vhq.1 + 3 3529 c.2637T>A c.(2635-2637)TTT>TTA p.F879L PCDH17_uc010aec.1_Missense_Mutation_p.F878L|PCDH17_uc001vhr.1_5'UTR NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 879 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCTCCACGTTTAAGGACCCAG 0.443 Melanoma(72;952 1291 1619 12849 33676) NA 12 29 0 0 0.001855 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454106 84454106 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr13:84454106C>T uc001vlk.2 - 1 2423 c.1537G>A c.(1537-1539)GGG>AGG p.G513R NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 513 Extracellular (Potential).|LRR 12. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCCAGCACCCCTGCCACCGGG 0.562 NA 8 43 0 0 0.004482 0 0 DNAJC3 5611 broad.mit.edu 37 13 96443247 96443247 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr13:96443247C>T uc001vmq.2 + 12 1586 c.1478C>T c.(1477-1479)TCA>TTA p.S493L DNAJC3_uc001vmr.2_Missense_Mutation_p.S442L NM_006260 NP_006251 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 493 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding 0 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) CCCTTCAGCTCAGGCGGACCA 0.428 NA 12 91 0 0 0.001855 0 0 OR4N5 390437 broad.mit.edu 37 14 20612416 20612416 + Silent SNP C C A rs76001619 byFrequency TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:20612416C>A uc010tla.1 + 1 522 c.522C>A c.(520-522)CTC>CTA p.L174L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CAAACCAGCTCGATAACTTCT 0.507 NA 13 86 1.5842e-08 2.11744e-08 0.001855 1 0 LRFN5 145581 broad.mit.edu 37 14 42356586 42356586 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:42356586G>A uc001wvm.2 + 3 1956 c.758G>A c.(757-759)CGT>CAT p.R253H LRFN5_uc010ana.2_Missense_Mutation_p.R253H NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 253 Extracellular (Potential).|LRRCT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGGTTGAGGCGTCTGTCCAGA 0.443 NA HNSCC(30;0.082) 39 153 0 0 0.00874 0 0 NID2 22795 broad.mit.edu 37 14 52509064 52509064 + Silent SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:52509064T>A uc001wzo.2 - 7 1818 c.1584A>T c.(1582-1584)GCA>GCT p.A528A NID2_uc010tqs.1_Silent_p.A528A|NID2_uc010tqt.1_Silent_p.A528A|NID2_uc001wzp.2_Silent_p.A528A NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 528 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CTCGGTGAGGTGCCCCTAAAA 0.512 NA 19 81 0 0 0.008871 0 0 PTGER2 5732 broad.mit.edu 37 14 52781374 52781374 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:52781374G>T uc001wzr.2 + 1 359 c.108G>T c.(106-108)GTG>GTT p.V36V NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 36 Helical; Name=1; (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CGGCCGGGGTGCTGGGGAACC 0.682 NA 3 29 6.4e-05 7.48051e-05 0.004672 1 0 DACT1 51339 broad.mit.edu 37 14 59112610 59112610 + Silent SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:59112610A>G uc001xdw.2 + 4 1433 c.1269A>G c.(1267-1269)TCA>TCG p.S423S DACT1_uc010trv.1_Silent_p.S142S|DACT1_uc001xdx.2_Silent_p.S386S|DACT1_uc010trw.1_Silent_p.S142S NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 423 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CGAAAGAATCAAAGGCCGAAC 0.567 NA 5 23 0 0 0.000602 0 0 DLST 1743 broad.mit.edu 37 14 75360125 75360125 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:75360125C>T uc001xqv.2 + 9 733 c.670C>T c.(670-672)CGG>TGG p.R224W DLST_uc001xqu.2_Missense_Mutation_p.R136W|DLST_uc001xqt.2_Missense_Mutation_p.R140W|DLST_uc010tuw.1_Missense_Mutation_p.R138W|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.R224W NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 224 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) TTCAGAACATCGGGTAAGCCT 0.517 NA 7 44 0 0 0.00308 0 0 TTC8 123016 broad.mit.edu 37 14 89327606 89327606 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:89327606T>C uc010ath.2 + 10 1021 c.887T>C c.(886-888)CTT>CCT p.L296P TTC8_uc001xxl.2_Missense_Mutation_p.L41P|TTC8_uc010ati.2_Missense_Mutation_p.L82P|TTC8_uc001xxm.2_Missense_Mutation_p.L240P|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.L280P|TTC8_uc001xxj.2_Missense_Mutation_p.L270P|TTC8_uc001xxk.2_Missense_Mutation_p.L240P NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 306 TPR 3. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 GCTTTAAATCTTTTCAAACAA 0.289 NA Bardet-Biedl_syndrome 3 80 0 0 0.009096 0 0 CATSPERB 79820 broad.mit.edu 37 14 92074741 92074741 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:92074741T>C uc001xzs.1 - 22 2746 c.2606A>G c.(2605-2607)TAC>TGC p.Y869C CATSPERB_uc010aub.1_Missense_Mutation_p.Y391C NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 869 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) TGGAGGCCTGTAGTTTATCTG 0.323 NA 7 49 0 0 0.00308 0 0 RIN3 79890 broad.mit.edu 37 14 93118691 93118691 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:93118691G>T uc001yap.2 + 6 1449 c.1297G>T c.(1297-1299)GGC>TGC p.G433C RIN3_uc010auk.2_Missense_Mutation_p.G95C|RIN3_uc001yaq.2_Missense_Mutation_p.G358C|RIN3_uc001yar.1_Missense_Mutation_p.G95C|RIN3_uc001yas.1_Missense_Mutation_p.G95C NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 433 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CACGGAGCAAGGCCAGGACAC 0.657 NA 7 33 0.000157383 0.000177817 0.00308 1 0 KIAA1409 57578 broad.mit.edu 37 14 94060029 94060029 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:94060029G>A uc001ybv.1 + 20 2588 c.2505G>A c.(2503-2505)CTG>CTA p.L835L KIAA1409_uc001ybs.1_Silent_p.L835L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1012 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TCCCTAGCCTGTGGAGGGTCG 0.478 NA 19 91 0 0 0.007413 0 0 KIAA1409 57578 broad.mit.edu 37 14 94158119 94158119 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:94158119C>G uc001ybv.1 + 45 7032 c.6949C>G c.(6949-6951)CTC>GTC p.L2317V KIAA1409_uc001ybs.1_Missense_Mutation_p.L2295V NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2472 Helical; (Potential). integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CATGTGCTCCCTCTTCCACGC 0.542 NA 9 44 0 0 0.008291 0 0 DICER1 23405 broad.mit.edu 37 14 95573988 95573988 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:95573988C>A uc001ydw.2 - 18 2943 c.2761G>T c.(2761-2763)GTT>TTT p.V921F DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.V911F|DICER1_uc001ydx.2_Missense_Mutation_p.V921F NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 921 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AATTTAAAAACAAAGGGTGTT 0.343 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 12 91 1.61879e-10 2.32311e-10 0.001368 1 0 ATG2B 55102 broad.mit.edu 37 14 96756049 96756049 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:96756049G>C uc001yfi.2 - 41 6315 c.5950C>G c.(5950-5952)CAC>GAC p.H1984D NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1984 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACTGGCTGGTGGGCTAACCGG 0.522 NA 20 93 0 0 0.008871 0 0 TDRD9 122402 broad.mit.edu 37 14 104490907 104490907 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:104490907G>T uc001yom.3 + 25 2638 c.2608G>T c.(2608-2610)GTG>TTG p.V870L TDRD9_uc001yon.3_Missense_Mutation_p.V608L NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 870 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATTATGTAGGGTGAATGTGGA 0.323 NA 6 54 8.12818e-05 9.33828e-05 0.001984 1 0 AHNAK2 113146 broad.mit.edu 37 14 105418880 105418880 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr14:105418880C>A uc010axc.1 - 7 3028 c.2908G>T c.(2908-2910)GCC>TCC p.A970S AHNAK2_uc001ypx.2_Missense_Mutation_p.A870S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 970 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCTTCTGGGCCTGGACATCC 0.607 NA 38 212 5.43694e-19 8.65256e-19 0.005524 1 0 RYR3 6263 broad.mit.edu 37 15 33936678 33936678 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:33936678C>T uc001zhi.2 + 28 3793 c.3723C>T c.(3721-3723)CTC>CTT p.L1241L RYR3_uc010bar.2_Silent_p.L1241L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1241 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAAGCGCCTCCCGACGTTTG 0.502 NA 5 26 0 0 0.001168 0 0 MEIS2 4212 broad.mit.edu 37 15 37187407 37187407 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:37187407C>A uc001zjr.2 - 11 2129 c.1092G>T c.(1090-1092)CAG>CAT p.Q364H MEIS2_uc001zjl.2_Missense_Mutation_p.Q351H|MEIS2_uc010ucj.1_Missense_Mutation_p.Q344H|MEIS2_uc001zjm.2_Missense_Mutation_p.Q269H|MEIS2_uc001zjn.2_Missense_Mutation_p.Q218H|MEIS2_uc001zjo.2_Missense_Mutation_p.Q364H|MEIS2_uc001zjp.2_Missense_Mutation_p.Q357H|MEIS2_uc001zjs.2_Missense_Mutation_p.Q357H|MEIS2_uc001zju.2_Missense_Mutation_p.Q344H|MEIS2_uc001zjt.2_Missense_Mutation_p.Q357H|MEIS2_uc001zjj.2_Missense_Mutation_p.Q60H|MEIS2_uc001zjk.2_Missense_Mutation_p.Q53H NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 364 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TCCCCATGGGCTGACCCTCTG 0.537 NA 10 71 3.07112e-06 3.79482e-06 0.000978 1 0 UNC13C 440279 broad.mit.edu 37 15 54914534 54914534 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:54914534C>A uc002ack.2 + 29 6116 c.6116C>A c.(6115-6117)TCC>TAC p.S2039Y UNC13C_uc002acm.2_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2039 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) GGTCGTTCCTCCAAAGATGCC 0.408 NA 9 66 0.00010058 0.00011523 0.001368 1 0 SMAD3 4088 broad.mit.edu 37 15 67473723 67473723 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:67473723G>A uc002aqj.2 + 6 1101 c.803G>A c.(802-804)CGC>CAC p.R268H SMAD3_uc010ujr.1_Missense_Mutation_p.R163H|SMAD3_uc010ujs.1_Missense_Mutation_p.R224H|SMAD3_uc010ujt.1_Missense_Mutation_p.R73H NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 268 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) AATTCGGAGCGCTTCTGCCTA 0.607 NA 5 29 0 0 0.001984 0 0 PTPN9 5780 broad.mit.edu 37 15 75816577 75816577 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:75816577C>G uc002bal.2 - 3 778 c.270G>C c.(268-270)GAG>GAC p.E90D NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 90 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 CACTGAGGATCTCAGAACGAA 0.393 NA 14 77 0 0 0.006122 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100801699 100801699 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:100801699G>C uc002bvv.1 - 6 1095 c.1016C>G c.(1015-1017)GCC>GGC p.A339G ADAMTS17_uc002bvx.1_Missense_Mutation_p.A96G NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 339 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CACAAACACGGCAGCATCCAC 0.537 NA 6 23 0 0 0.001984 0 0 PARN 5073 broad.mit.edu 37 16 14711498 14711498 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:14711498T>C uc010uzd.1 - 6 479 c.337A>G c.(337-339)ATT>GTT p.I113V PARN_uc010uzc.1_Missense_Mutation_p.I52V|PARN_uc010uze.1_Missense_Mutation_p.I67V|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_RNA NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 113 I->A: Loss of dimerization. Loss of activity. female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 AGAAAGTCAATGCTGGAGCTC 0.348 NA 8 54 0 0 0.006214 0 0 NDE1 54820 broad.mit.edu 37 16 15785148 15785148 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:15785148C>T uc002ddt.1 + 5 714 c.671C>T c.(670-672)TCA>TTA p.S224L NDE1_uc010uzy.1_Missense_Mutation_p.S224L|NDE1_uc002dds.2_Missense_Mutation_p.S224L|NDE1_uc002ddu.1_Missense_Mutation_p.S161L NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN nuclear distribution gene E homolog 1 224 Interaction with CENPF (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding ovary(1) 1 GGACCCAGCTCAAGTTTAAAC 0.572 NA 6 19 0 0 0.001168 0 0 GPR139 124274 broad.mit.edu 37 16 20043936 20043937 + Nonsense_Mutation DNP GG GG TT TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:20043936_20043937GG>TT uc002dgu.1 - 2 344_345 c.182_183CC>AA c.(181-183)TCC>TAA p.S61* GPR139_uc010vaw.1_5'UTR NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 61 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 AGTTGTAGGAGGACTTCTGTCT 0.45 NA 10 42 0 0 0.004672 0 0 GP2 2813 broad.mit.edu 37 16 20329664 20329664 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:20329664C>A uc002dgv.2 - 8 1188 c.1105G>T c.(1105-1107)GGG>TGG p.G369W GP2_uc002dgw.2_Missense_Mutation_p.G366W|GP2_uc002dgx.2_Missense_Mutation_p.G222W|GP2_uc002dgy.2_Missense_Mutation_p.G219W NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 369 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 ACTGCATCCCCTTCGTAAGGA 0.507 NA 42 146 3.43241e-23 5.68363e-23 0.009718 1 0 ACSM5 54988 broad.mit.edu 37 16 20429494 20429494 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:20429494G>C uc002dhe.2 + 3 465 c.318G>C c.(316-318)CTG>CTC p.L106L ACSM5_uc002dhd.1_Silent_p.L106L NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 106 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CCAATGTGCTGGGGGGTGCAT 0.617 NA 9 33 0 0 0.006214 0 0 SLC12A3 6559 broad.mit.edu 37 16 56913484 56913484 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:56913484C>T uc010ccm.2 + 11 1395 c.1366C>T c.(1366-1368)CTG>TTG p.L456L SLC12A3_uc002ekd.3_Silent_p.L456L|SLC12A3_uc010ccn.2_Silent_p.L455L NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 456 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTTCGCGCCCCTGATCACGGC 0.642 NA 14 35 0 0 0.004007 0 0 GINS2 51659 broad.mit.edu 37 16 85712182 85712182 + Silent SNP A A G rs138755140 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr16:85712182A>G uc002fja.2 - 4 480 c.396T>C c.(394-396)GCT>GCC p.A132A NM_016095 NP_057179 Q9Y248 PSF2_HUMAN DNA replication complex GINS protein PSF2 132 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding 0 CAAAGCTGTCAGCAGACACTC 0.557 NA 22 54 0 0 0.002299 0 0 OR1A2 26189 broad.mit.edu 37 17 3101096 3101096 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:3101096G>A uc002fvd.1 + 1 284 c.284G>A c.(283-285)GGG>GAG p.G95E NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ATCTCCTTTGGGGGATGCCTA 0.517 NA 22 82 0 0 0.010504 0 0 OR3A3 8392 broad.mit.edu 37 17 3324736 3324737 + Missense_Mutation DNP CC CC AA TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:3324736_3324737CC>AA uc010vrd.1 + 1 875_876 c.875_876CC>AA c.(874-876)CCC>CAA p.P292Q NM_012373 NP_036505 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTGATCAACCCCATGCTGAACC 0.495 NA 34 65 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7577609 7577609 + Splice_Site SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:7577609C>G uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(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) CAGAGCCAACCTAGGAGATAA 0.488 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) 14 17 0 0 0.00245 0 0 SHMT1 6470 broad.mit.edu 37 17 18243507 18243507 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:18243507C>A uc002gta.2 - 7 854 c.664G>T c.(664-666)GGG>TGG p.G222W SHMT1_uc002gsz.2_5'UTR|SHMT1_uc002gtb.2_Missense_Mutation_p.G222W|SHMT1_uc010cqb.2_Missense_Mutation_p.G222W|SHMT1_uc010vxt.1_Missense_Mutation_p.G84W|SHMT1_uc002gtd.1_Missense_Mutation_p.G222W NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 222 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AGATACGCCCCGTTCTCATCT 0.582 NA 22 94 1.64293e-13 2.45241e-13 0.00333 1 0 LGALS9 3965 broad.mit.edu 37 17 25974363 25974363 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:25974363G>T uc002gzp.2 + 10 944 c.826G>T c.(826-828)GCT>TCT p.A276S LGALS9_uc002gzq.2_Missense_Mutation_p.A244S|LGALS9_uc002gzr.2_Missense_Mutation_p.A187S|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Intron NM_009587 NP_033665 O00182 LEG9_HUMAN galectin-9 isoform long 276 Galectin 2. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity 0 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) TGATGAGAATGCTGTGGTCCG 0.572 Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023) NA 7 53 0.000157383 0.000177817 0.00308 1 0 NOS2 4843 broad.mit.edu 37 17 26114746 26114746 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:26114746T>A uc002gzu.2 - 5 689 c.425A>T c.(424-426)CAA>CTA p.Q142L NOS2_uc010crh.1_Missense_Mutation_p.Q142L|NOS2_uc010wab.1_Missense_Mutation_p.Q142L NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 142 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TTCGATAGCTTGAGGTAGAAG 0.527 NA 20 169 0 0 0.010504 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818601 26818601 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:26818601G>A uc002hbh.2 + 5 788 c.721G>A c.(721-723)GCA>ACA p.A241T SLC13A2_uc010wal.1_Missense_Mutation_p.A198T|SLC13A2_uc010wam.1_Missense_Mutation_p.A197T|SLC13A2_uc010wan.1_Missense_Mutation_p.A290T|SLC13A2_uc010wao.1_Missense_Mutation_p.A198T|SLC13A2_uc002hbi.2_Missense_Mutation_p.A170T NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 241 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GACTGGCACCGCACCCAACCT 0.627 NA 11 57 0 0 0.001368 0 0 TMIGD1 388364 broad.mit.edu 37 17 28656339 28656339 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:28656339G>A uc002hfa.1 - 3 364 c.291C>T c.(289-291)AAC>AAT p.N97N TMIGD1_uc010csh.1_Silent_p.N97N NM_206832 NP_996663 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain 97 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane 0 AGCTGATTCCGTTGTCATTTT 0.488 NA 12 76 0 0 0.001368 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:39261693A>T uc010wfp.1 + 1 53 c.53A>T c.(52-54)GAC>GTC p.D18V NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament 0 TGCGGCCAAGACCTCTGTCAG 0.627 NA 5 25 0 0 0.000602 0 0 KRT14 3861 broad.mit.edu 37 17 39739908 39739908 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:39739908C>T uc002hxf.1 - 5 1009 c.948G>A c.(946-948)GAG>GAA p.E316E JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.E316E NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 316 Rod.|Coil 2. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) TGGTGGCCACCTCGCGGTTCA 0.587 NA 23 102 0 0 0.003954 0 0 WNK4 65266 broad.mit.edu 37 17 40933017 40933017 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:40933017A>G uc002ibj.2 + 1 322 c.301A>G c.(301-303)AGC>GGC p.S101G WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 101 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCACCGCCTAGCTCCAAAGA 0.726 Esophageal Squamous(6;201 374 4964 23855 42828) NA 7 18 0 0 0.00308 0 0 BRCA1 672 broad.mit.edu 37 17 41251814 41251814 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:41251814C>A uc002icq.2 - 7 757 c.525G>T c.(523-525)AAG>AAT p.K175N BRCA1_uc010whp.1_Missense_Mutation_p.K128N|BRCA1_uc010whl.1_Missense_Mutation_p.K175N|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K104N|BRCA1_uc002icu.2_Missense_Mutation_p.K175N|BRCA1_uc010cyx.2_Missense_Mutation_p.K128N|BRCA1_uc002ict.2_Missense_Mutation_p.K175N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.K48N|BRCA1_uc002idc.1_Missense_Mutation_p.K174N|BRCA1_uc010whr.1_Missense_Mutation_p.K128N|BRCA1_uc002idd.2_Missense_Mutation_p.K175N|BRCA1_uc002ide.1_Missense_Mutation_p.K47N|BRCA1_uc010cyy.1_Missense_Mutation_p.K175N|BRCA1_uc010whs.1_Missense_Mutation_p.K175N|BRCA1_uc010cyz.2_Missense_Mutation_p.K128N|BRCA1_uc010cza.2_Missense_Mutation_p.K149N|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 175 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AGACAGACGTCTTTTGAGGTT 0.383 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 31 173 6.53348e-20 1.04792e-19 0.003755 1 0 KIF2B 84643 broad.mit.edu 37 17 51901824 51901824 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:51901824C>T uc002iua.2 + 1 1586 c.1430C>T c.(1429-1431)GCC>GTC p.A477V uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 477 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGTCTTCTAGCCCTCAAAGAA 0.512 NA 7 37 0 0 0.001984 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351180 60351180 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:60351180G>T uc002izq.2 - 3 247 c.135C>A c.(133-135)AAC>AAA p.N45K TBC1D3P2_uc010woz.1_RNA SubName: Full=Putative uncharacterized protein TBC1D3E; 0 AGTGATCGATGTTGTTGTTGT 0.557 NA 39 133 3.61848e-18 5.73627e-18 0.007835 1 0 TBC1D16 125058 broad.mit.edu 37 17 77987181 77987181 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:77987181C>A uc002jxj.2 - 2 282 c.166G>T c.(166-168)GGG>TGG p.G56W NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 56 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TGGTGCTCCCCCAGCCCCTGC 0.667 Ovarian(14;397 562 4850 31922 49378) NA 3 20 2.56e-06 3.1922e-06 0.009096 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14852116 14852116 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr18:14852116G>T uc010dlo.2 + 36 3996 c.3816G>T c.(3814-3816)CAG>CAT p.Q1272H ANKRD30B_uc010xal.1_Missense_Mutation_p.Q414H NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1357 Potential. ovary(1)|skin(1) 2 GTGAAACACAGTGTCAAATGA 0.368 NA 6 20 0.00198382 0.00214651 0.001984 1 0 ASXL3 80816 broad.mit.edu 37 18 31323961 31323961 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr18:31323961C>T uc010dmg.1 + 12 4204 c.4149C>T c.(4147-4149)GCC>GCT p.A1383A ASXL3_uc002kxq.2_Silent_p.A1090A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAGAACAGGCCACTGTATCCA 0.507 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 71 0 0 0.000978 0 0 FHOD3 80206 broad.mit.edu 37 18 34310681 34310681 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr18:34310681G>T uc002kzt.1 + 16 3011 c.2914G>T c.(2914-2916)GGT>TGT p.G972C FHOD3_uc002kzs.1_Missense_Mutation_p.G989C|FHOD3_uc010dmz.1_Missense_Mutation_p.G704C|FHOD3_uc010dnb.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 972 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CATCAATATTGGTCTGACGGT 0.428 NA 14 87 3.27435e-08 4.30614e-08 0.00245 1 0 LRRC8E 80131 broad.mit.edu 37 19 7965609 7965609 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:7965609G>A uc002mir.2 + 3 2303 c.2202G>A c.(2200-2202)CTG>CTA p.L734L NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 734 LRR 10. integral to membrane lung(1)|pancreas(1) 2 ACAACCAGCTGAGCCAGCTCT 0.632 NA 8 51 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9048033 9048033 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:9048033C>A uc002mkp.2 - 5 33802 c.33598G>T c.(33598-33600)GTC>TTC p.V11200F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11202 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTAGGGGAGACAGCTAAAGTT 0.453 NA 9 14 1.12685e-05 1.35554e-05 0.004482 1 0 MUC16 94025 broad.mit.edu 37 19 9087382 9087382 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:9087382C>T uc002mkp.2 - 1 4637 c.4433G>A c.(4432-4434)AGT>AAT p.S1478N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1478 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAACTTGGACTTGAAATATC 0.448 NA 31 155 0 0 0.009535 0 0 ZNF439 90594 broad.mit.edu 37 19 11978562 11978562 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:11978562C>T uc002mss.2 + 3 806 c.678C>T c.(676-678)CTC>CTT p.L226L ZNF439_uc002msr.2_Silent_p.L90L NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 226 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCCATTGTCTCAGTTTATATC 0.358 NA 23 116 0 0 0.002299 0 0 ZNF492 57615 broad.mit.edu 37 19 22847981 22847981 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:22847981C>T uc002nqw.3 + 4 1754 c.1510C>T c.(1510-1512)CTC>TTC p.L504F NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGGAGAGAAACTCTACAAACC 0.343 NA 8 10 0 0 0.000978 0 0 NFKBID 84807 broad.mit.edu 37 19 36380905 36380905 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:36380905C>A uc002oci.1 - 11 1349 c.775G>T c.(775-777)GCC>TCC p.A259S NFKBID_uc002och.1_Missense_Mutation_p.A96S|NFKBID_uc002ocj.1_Missense_Mutation_p.A274S NM_139239 NP_640332 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene 259 ANK 6. inflammatory response nucleus 0 GCCTCCTGGGCCGGCCCAGGG 0.706 NA 7 17 2.0095e-06 2.53668e-06 0.001984 1 0 SUPT5H 6829 broad.mit.edu 37 19 39959770 39959770 + Nonsense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:39959770C>T uc002olo.3 + 15 1374 c.1195C>T c.(1195-1197)CAG>TAG p.Q399* SUPT5H_uc002olp.3_Nonsense_Mutation_p.Q399*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.Q395*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.Q399*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.Q399*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.Q22*|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 399 Interaction with RNA polymerase II. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTTTGAGGACCAGCCAGAGGG 0.577 NA 13 49 0 0 0.001855 0 0 CEACAM19 56971 broad.mit.edu 37 19 45175887 45175887 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:45175887G>T uc002ozo.3 + 2 555 c.75G>T c.(73-75)TGG>TGT p.W25C CEACAM19_uc002ozp.3_Missense_Mutation_p.W25C NM_020219 NP_064604 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion 25 integral to membrane 0 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) TGGTCCTCTGGATGCTCCAAG 0.552 NA 18 42 8.00594e-06 9.68766e-06 0.007413 1 0 GPR77 27202 broad.mit.edu 37 19 47845055 47845055 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:47845055G>T uc010ela.1 + 2 1217 c.999G>T c.(997-999)TCG>TCT p.S333S GPR77_uc002pgk.1_Silent_p.S333S NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 333 Cytoplasmic (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) ACCTGGTCTCGGAGATGGAGG 0.458 NA 3 31 2.56e-06 3.1922e-06 0.009096 1 0 TSKS 60385 broad.mit.edu 37 19 50245161 50245161 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:50245161C>A uc002ppm.2 - 9 1489 c.1478G>T c.(1477-1479)AGG>ATG p.R493M NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 493 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTTGTGTAGCCTCTGACAGCT 0.582 NA 8 78 2.74318e-10 3.86883e-10 0.006214 1 0 SIGLEC6 946 broad.mit.edu 37 19 52033116 52033116 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:52033116C>T uc002pwy.2 - 5 1036 c.874G>A c.(874-876)GCC>ACC p.A292T SIGLEC6_uc002pwz.2_Missense_Mutation_p.A276T|SIGLEC6_uc002pxa.2_Missense_Mutation_p.A292T|SIGLEC6_uc010ydb.1_Missense_Mutation_p.A229T|SIGLEC6_uc010ydc.1_Missense_Mutation_p.A292T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.A270T|SIGLEC6_uc010epb.1_Missense_Mutation_p.A245T|SIGLEC6_uc010epa.1_Missense_Mutation_p.A281T NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 292 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCGTTCAGGGCGGGGAAGCCC 0.637 NA 11 61 0 0 0.001368 0 0 LILRA6 79168 broad.mit.edu 37 19 54745485 54745485 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:54745485G>T uc002qeu.1 - 4 749 c.625C>A c.(625-627)CAC>AAC p.H209N LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.H209N|LILRA6_uc002qek.1_Missense_Mutation_p.H209N|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.H209N|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.H209N|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.H209N|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.H209N|LILRA6_uc010yep.1_Missense_Mutation_p.H209N|LILRA6_uc010yeq.1_Missense_Mutation_p.H209N|LILRA6_uc002qet.3_Intron|LILRA6_uc002qev.1_Missense_Mutation_p.H70N NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 209 Extracellular (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACTGGGGTGGGACCACACC 0.612 NA 19 85 3.85864e-22 6.31274e-22 0.00278 1 0 LILRB1 10859 broad.mit.edu 37 19 55143393 55143393 + Nonsense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:55143393C>G uc002qgj.2 + 6 706 c.366C>G c.(364-366)TAC>TAG p.Y122* LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.Y122*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.Y122*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.Y122*|LILRB1_uc010erq.2_Nonsense_Mutation_p.Y122*|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 122 Ig-like C2-type 2.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) TAGGAGCCTACATCAAACCCA 0.592 NA HNSCC(37;0.09) 6 63 0 0 0.001984 0 0 PEG3 5178 broad.mit.edu 37 19 57327625 57327625 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:57327625T>C uc002qnu.2 - 7 2536 c.2185A>G c.(2185-2187)ACT>GCT p.T729A 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.T700A|PEG3_uc002qnv.2_Missense_Mutation_p.T729A|PEG3_uc002qnw.2_Missense_Mutation_p.T605A|PEG3_uc002qnx.2_Missense_Mutation_p.T603A|PEG3_uc010etr.2_Missense_Mutation_p.T729A NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 729 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) TGAGATTCAGTGAATGGCCCA 0.423 NA 44 85 0 0 0.002522 0 0 ZNF304 57343 broad.mit.edu 37 19 57868358 57868358 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr19:57868358G>C uc010ygw.1 + 3 1509 c.1121G>C c.(1120-1122)CGT>CCT p.R374P ZNF304_uc010etw.2_Missense_Mutation_p.R421P|ZNF304_uc010etx.2_Missense_Mutation_p.R332P NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 374 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GCCTTTAGCCGTAAAGACACA 0.448 NA 15 42 0 0 0.004007 0 0 ASAP2 8853 broad.mit.edu 37 2 9540191 9540191 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:9540191G>T uc002qzh.2 + 25 3064 c.2724G>T c.(2722-2724)CCG>CCT p.P908P ASAP2_uc002qzi.2_Silent_p.P863P NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 908 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 AAGGCCAACCGAGAGGACCTG 0.517 NA 5 49 0.000602214 0.000665691 0.000602 1 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917755 10917755 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:10917755G>A uc002ras.2 + 11 979 c.870G>A c.(868-870)CCG>CCA p.P290P ATP6V1C2_uc002rat.2_Intron NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 290 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) CCACCTTCCCGGACCACAAGG 0.483 NSCLC(188;1042 2136 10807 16813 47705) NA 39 88 0 0 0.006999 0 0 NBAS 51594 broad.mit.edu 37 2 15427279 15427279 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:15427279C>A uc002rcc.1 - 42 5082 c.5056G>T c.(5056-5058)GCT>TCT p.A1686S NBAS_uc010exl.1_Missense_Mutation_p.A758S|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1686 ovary(2)|liver(1)|skin(1) 4 AGAGAAATAGCAATGCTGTAG 0.468 NA 9 54 2.17888e-05 2.59814e-05 0.006214 1 0 OTOF 9381 broad.mit.edu 37 2 26683600 26683600 + Nonsense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:26683600C>A uc002rhk.2 - 45 5855 c.5728G>T c.(5728-5730)GAG>TAG p.E1910* OTOF_uc010yla.1_Nonsense_Mutation_p.E640*|OTOF_uc002rhh.2_Nonsense_Mutation_p.E1143*|OTOF_uc002rhi.2_Nonsense_Mutation_p.E1220*|OTOF_uc002rhj.2_Nonsense_Mutation_p.E1143* NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1910 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAATGCAGCTCAGCCTCCACC 0.647 GBM(102;732 1451 20652 24062 31372) NA 4 21 2.56e-06 3.1922e-06 0.009096 1 0 AGBL5 60509 broad.mit.edu 37 2 27292958 27292958 + Splice_Site SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:27292958A>T uc002rie.2 + 15 2707 c.2490_splice c.e15-2 p.G830_splice AGBL5_uc002rif.2_Splice_Site NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCTGTTGCAGGCTGCCTCA 0.547 NA 12 73 0 0 0.00245 0 0 XDH 7498 broad.mit.edu 37 2 31611101 31611101 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:31611101C>A uc002rnv.1 - 7 635 c.556G>T c.(556-558)GAC>TAC p.D186Y NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 186 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACTGAGTGGTCTTTCTTCTGG 0.502 Colon(66;682 1445 30109 40147) NA 7 52 0.000157383 0.000177817 0.00308 1 0 HEATR5B 54497 broad.mit.edu 37 2 37227729 37227729 + Nonsense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:37227729C>A uc002rpp.1 - 33 5641 c.5545G>T c.(5545-5547)GAA>TAA p.E1849* HEATR5B_uc002rpo.1_Missense_Mutation_p.D162Y|HEATR5B_uc010ezy.1_Nonsense_Mutation_p.E344* NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1849 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GATAGGTTACCTGGTTGAGAA 0.388 NA 6 73 0.00116845 0.00128122 0.001168 1 0 PKDCC 91461 broad.mit.edu 37 2 42284449 42284449 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:42284449G>T uc002rsg.2 + 6 1490 c.1311G>T c.(1309-1311)GTG>GTT p.V437V NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 437 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 TCCTTTCAGTGTTCAACCTGG 0.602 NA 9 111 0.000442599 0.000491911 0.006214 1 0 MTA3 57504 broad.mit.edu 37 2 42883392 42883392 + Silent SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:42883392A>T uc002rso.1 + 8 1054 c.384A>T c.(382-384)CCA>CCT p.P128P MTA3_uc002rsp.1_Silent_p.P128P|MTA3_uc002rsq.2_Silent_p.P184P|MTA3_uc002rsr.2_Silent_p.P184P NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 184 ELM2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TTTGGGATCCAAATAGCCCAC 0.353 NA 20 67 0 0 0.004656 0 0 FBXO11 80204 broad.mit.edu 37 2 48066010 48066010 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:48066010T>A uc010fbl.2 - 4 437 c.323A>T c.(322-324)GAT>GTT p.D108V FBXO11_uc002rwe.2_Missense_Mutation_p.D108V|FBXO11_uc002rwf.2_Missense_Mutation_p.D108V|FBXO11_uc002rwg.1_Missense_Mutation_p.D108V NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 192 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAAAATTGGATCATTAGCAAG 0.383 NA 12 41 0 0 0.001368 0 0 PNPT1 87178 broad.mit.edu 37 2 55894127 55894127 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:55894127T>A uc002rzf.2 - 13 1228 c.1175A>T c.(1174-1176)CAG>CTG p.Q392L PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 392 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATAAATTACCTGTGTTTGTCC 0.318 NA 7 48 0 0 0.001984 0 0 DYSF 8291 broad.mit.edu 37 2 71839888 71839888 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:71839888C>T uc002sie.2 + 39 4661 c.4285C>T c.(4285-4287)CTG>TTG p.L1429L DYSF_uc010feg.2_Silent_p.L1460L|DYSF_uc010feh.2_Silent_p.L1415L|DYSF_uc002sig.3_Silent_p.L1415L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L1429L|DYSF_uc010fef.2_Silent_p.L1446L|DYSF_uc010fei.2_Silent_p.L1446L|DYSF_uc010fek.2_Silent_p.L1447L|DYSF_uc010fej.2_Silent_p.L1416L|DYSF_uc010fel.2_Silent_p.L1416L|DYSF_uc010feo.2_Silent_p.L1461L|DYSF_uc010fem.2_Silent_p.L1430L|DYSF_uc010fen.2_Silent_p.L1447L|DYSF_uc002sif.2_Silent_p.L1430L|DYSF_uc010yqy.1_Silent_p.L310L|DYSF_uc010yqz.1_Silent_p.L169L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1429 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGAGAGCTTCCTGTGTGACCC 0.657 NA 7 21 0 0 0.001984 0 0 DNAH6 1768 broad.mit.edu 37 2 84775457 84775457 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:84775457A>G uc010fgb.2 + 8 1369 c.1232A>G c.(1231-1233)CAT>CGT p.H411R DNAH6_uc002soo.2_5'UTR|DNAH6_uc002sop.2_5'UTR NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 411 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 AATACACCACATGAGTTGCCC 0.383 NA 8 59 0 0 0.00308 0 0 PROM2 150696 broad.mit.edu 37 2 95953996 95953996 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:95953996G>T uc002suh.1 + 21 2415 c.2282G>T c.(2281-2283)GGA>GTA p.G761V PROM2_uc002sui.2_Missense_Mutation_p.G761V|PROM2_uc002suj.2_Missense_Mutation_p.G415V|PROM2_uc002suk.2_Missense_Mutation_p.G761V|PROM2_uc002sul.2_Missense_Mutation_p.G287V|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 761 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 CCCCTCTCCGGAGCCCTGGAC 0.622 NA 11 85 9.70103e-10 1.34499e-09 0.008291 1 0 IL1F6 27179 broad.mit.edu 37 2 113764288 113764288 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:113764288G>T uc010yxr.1 + 3 238 c.238G>T c.(238-240)GGG>TGG p.G80W NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN interleukin 1 family, member 6 (epsilon) 80 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding p.G80R(1) 0 TGCTAAAGTCGGGGACCAGCC 0.483 NA 20 131 8.10497e-08 1.06248e-07 0.010504 1 0 POTEF 728378 broad.mit.edu 37 2 130832641 130832641 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:130832641G>T uc010fmh.2 - 17 2804 c.2404C>A c.(2404-2406)CCC>ACC p.P802T NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 802 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 AGCAGGACGGGGTGCTCCTCG 0.582 NA 36 93 2.40579e-17 3.77e-17 0.00623 1 0 THSD7B 80731 broad.mit.edu 37 2 138163308 138163308 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:138163308G>T uc002tva.1 + 12 2533 c.2533G>T c.(2533-2535)GCT>TCT p.A845S THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.A735S 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) CACCTTCACTGCTTGGTCCAA 0.507 NA 10 22 0.00621372 0.00661825 0.006214 1 0 LRP1B 53353 broad.mit.edu 37 2 140995720 140995720 + Splice_Site SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:140995720C>G uc002tvj.1 - 89 14532 c.13560_splice c.e89+1 p.K4520_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGACATACTACCTTTGTTGGG 0.373 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 12 99 0 0 0.001368 0 0 LRP1B 53353 broad.mit.edu 37 2 141641581 141641581 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:141641581G>T uc002tvj.1 - 25 4946 c.3974C>A c.(3973-3975)GCC>GAC p.A1325D LRP1B_uc010fnl.1_Missense_Mutation_p.A507D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1325 Extracellular (Potential).|LDL-receptor class B 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACTTCAATGGCACTGACACC 0.473 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 19 69 2.94398e-08 3.90938e-08 0.007413 1 0 SCN2A 6326 broad.mit.edu 37 2 166164446 166164446 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:166164446G>C uc002udc.2 + 4 765 c.475G>C c.(475-477)GAG>CAG p.E159Q SCN2A_uc002udd.2_Missense_Mutation_p.E159Q|SCN2A_uc002ude.2_Missense_Mutation_p.E159Q NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 159 I.|Helical; Name=S2 of repeat I; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AAAGAATGTGGAGTAAGTATA 0.338 NA 43 196 0 0 0.002522 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533101 166533101 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:166533101G>A uc002udf.2 + 6 1064 c.688G>A c.(688-690)GCT>ACT p.A230T CSRNP3_uc002udg.2_Missense_Mutation_p.A230T NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 230 Cys-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CTGCAGCCTGGCTGGCATTAA 0.537 NA 5 68 0 0 0.000602 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535484 166535484 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:166535484G>A uc002udf.2 + 7 1355 c.979G>A c.(979-981)GTG>ATG p.V327M CSRNP3_uc002udg.2_Missense_Mutation_p.V327M NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 327 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CCAGGCTGCAGTGCTGCACCT 0.507 NA 29 66 0 0 0.007291 0 0 LRP2 4036 broad.mit.edu 37 2 170127535 170127535 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:170127535C>T uc002ues.2 - 16 2412 c.2199G>A c.(2197-2199)ATG>ATA p.M733I LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 733 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAACTGGAACCATGACATCTT 0.413 NA 8 66 0 0 0.004482 0 0 HOXD10 3236 broad.mit.edu 37 2 176981647 176981647 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:176981647C>A uc002ukj.2 + 1 156 c.86C>A c.(85-87)TCC>TAC p.S29Y NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 29 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AGTTTTTATTCCAGCAGCGCC 0.488 NA 34 84 3.11337e-16 4.82337e-16 0.002836 1 0 OSBPL6 114880 broad.mit.edu 37 2 179238620 179238620 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:179238620G>T uc002ulx.2 + 15 1777 c.1399G>T c.(1399-1401)GGT>TGT p.G467C OSBPL6_uc002ulw.2_Missense_Mutation_p.G400C|OSBPL6_uc002uly.2_Missense_Mutation_p.G492C|OSBPL6_uc010zfe.1_Missense_Mutation_p.G436C|OSBPL6_uc002ulz.2_Missense_Mutation_p.G431C|OSBPL6_uc002uma.2_Missense_Mutation_p.G471C NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 467 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TCTGCAGGCTGGTGAGCAAAT 0.433 NA 3 59 0.004672 0.00500222 0.004672 1 0 TTN 7273 broad.mit.edu 37 2 179449532 179449532 + Silent SNP A A C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:179449532A>C uc010zfg.1 - 259 57356 c.57132T>G c.(57130-57132)GCT>GCG p.A19044A uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A12739A|TTN_uc010zfi.1_Silent_p.A12672A|TTN_uc010zfj.1_Silent_p.A12547A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19971 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) TTGTGACTGAAGCTAGAGCCG 0.517 NA 30 229 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179582535 179582535 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:179582535G>C uc010zfg.1 - 84 21558 c.21334C>G c.(21334-21336)CGC>GGC p.R7112G TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3773G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8039 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) GGAAGTTTGCGCGCTGTAAAG 0.378 NA 6 43 0 0 0.001168 0 0 SSFA2 6744 broad.mit.edu 37 2 182780208 182780208 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:182780208C>T uc002uoi.2 + 11 2163 c.1841C>T c.(1840-1842)CCA>CTA p.P614L SSFA2_uc002uoh.2_Missense_Mutation_p.P614L|SSFA2_uc002uoj.2_Missense_Mutation_p.P614L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.P461L|SSFA2_uc002uol.2_Missense_Mutation_p.P461L|SSFA2_uc002uom.2_Missense_Mutation_p.P82L NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 614 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACCTGTAGTCCAGGGGATCAT 0.453 NA 12 63 0 0 0.001368 0 0 COL3A1 1281 broad.mit.edu 37 2 189870978 189870978 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:189870978G>T uc002uqj.1 + 42 3203 c.3086G>T c.(3085-3087)GGT>GTT p.G1029V NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1029 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGATCTCCTGGTGGCAAGGTA 0.368 NA 16 91 1.33834e-09 1.8246e-09 0.007413 1 0 COL5A2 1290 broad.mit.edu 37 2 189923181 189923181 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:189923181C>G uc002uqk.2 - 33 2478 c.2203G>C c.(2203-2205)GGA>CGA p.G735R COL5A2_uc010frx.2_Missense_Mutation_p.G311R NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 735 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCATGTCCTCCAGCCATTCCC 0.433 NA 11 40 0 0 0.003163 0 0 MFSD6 54842 broad.mit.edu 37 2 191301129 191301129 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:191301129C>T uc002urz.2 + 3 698 c.374C>T c.(373-375)GCA>GTA p.A125V NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 125 Helical; (Potential). transmembrane transport integral to membrane ovary(2) 2 GGTGTAGTTGCAGACCGCTTT 0.428 NA 31 80 0 0 0.002445 0 0 DNAH7 56171 broad.mit.edu 37 2 196825191 196825191 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:196825191G>T uc002utj.3 - 18 2785 c.2684C>A c.(2683-2685)GCT>GAT p.A895D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 895 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTCTTTGCTAGCTGCTTCACT 0.403 NA 25 143 6.21321e-17 9.69925e-17 0.00278 1 0 C2orf66 401027 broad.mit.edu 37 2 197674027 197674027 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:197674027C>A uc002utv.2 - 1 974 c.85G>T c.(85-87)GCC>TCC p.A29S NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 29 extracellular region 0 AGCACCAGGGCAACACATAGT 0.498 NA 20 163 8.00594e-06 9.68766e-06 0.007413 1 0 PARD3B 117583 broad.mit.edu 37 2 206364739 206364739 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:206364739A>T uc002var.1 + 21 3371 c.3164A>T c.(3163-3165)GAG>GTG p.E1055V PARD3B_uc002vao.1_Missense_Mutation_p.E954V|PARD3B_uc002vap.1_Missense_Mutation_p.E993V|PARD3B_uc002vaq.1_Missense_Mutation_p.E986V NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1055 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGGCCATCTGAGTATGACCTA 0.438 NA 45 157 0 0 0.00361 0 0 ADAM23 8745 broad.mit.edu 37 2 207452814 207452814 + Splice_Site SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:207452814G>T uc002vbq.2 + 20 2012 c.1789_splice c.e20-1 p.G597_splice ADAM23_uc010ziv.1_Splice_Site NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CCTGTCCCCAGGGCCGCTGCT 0.493 Melanoma(194;1127 2130 19620 24042 27855) NA 16 48 2.5808e-16 4.01348e-16 0.006122 1 0 ACCN4 55515 broad.mit.edu 37 2 220396524 220396524 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:220396524G>T uc002vma.2 + 2 1022 c.1008G>T c.(1006-1008)CCG>CCT p.P336P ACCN4_uc010fwi.1_Silent_p.P336P|ACCN4_uc010fwj.1_Silent_p.P336P|ACCN4_uc002vly.1_Silent_p.P336P|ACCN4_uc002vlz.2_Silent_p.P336P|ACCN4_uc002vmb.2_5'UTR NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 336 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) ACGCGGACCCGCGGAGCTCGC 0.617 NA 29 85 2.4375e-19 3.89428e-19 0.007291 1 0 SIRPB1 10326 broad.mit.edu 37 20 1551451 1551451 + Nonsense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr20:1551451C>A uc010gai.2 - 4 1183 c.1084G>T c.(1084-1086)GAA>TAA p.E362* SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 362 Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 GTAACCGCACCATGGGTGATA 0.413 NA 38 104 2.35958e-20 3.81451e-20 0.009718 1 0 C20orf103 24141 broad.mit.edu 37 20 9496758 9496758 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr20:9496758C>A uc002wni.1 + 3 578 c.349C>A c.(349-351)CTC>ATC p.L117I C20orf103_uc010zrc.1_Intron NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 117 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) CGCATATGCACTCAAAATGCT 0.617 NA 10 14 4.3838e-07 5.63828e-07 0.001855 1 0 KIAA1755 85449 broad.mit.edu 37 20 36869019 36869019 + Missense_Mutation SNP G G T rs144867582 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr20:36869019G>T uc002xhy.1 - 3 1786 c.1514C>A c.(1513-1515)TCT>TAT p.S505Y KIAA1755_uc002xhz.1_Missense_Mutation_p.S505Y NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 505 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GGGTTTAGGAGAGTAGAGGGA 0.502 NA 39 83 7.04047e-22 1.14723e-21 0.005524 1 0 EYA2 2139 broad.mit.edu 37 20 45702913 45702913 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr20:45702913C>A uc002xsm.2 + 7 974 c.600C>A c.(598-600)TCC>TCA p.S200S EYA2_uc010ghp.2_Silent_p.S200S|EYA2_uc002xsn.2_Silent_p.S205S|EYA2_uc002xso.2_Silent_p.S200S|EYA2_uc002xsp.2_Silent_p.S200S|EYA2_uc002xsq.2_Silent_p.S200S NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 200 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) TCTCCACGTCCACCTACGTCC 0.617 Pancreas(120;56 1725 18501 25218 43520) NA 19 40 1.96292e-10 2.79734e-10 0.010504 1 0 CTCFL 140690 broad.mit.edu 37 20 56099046 56099046 + Silent SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr20:56099046C>G uc010gix.1 - 1 878 c.216G>C c.(214-216)TCG>TCC p.S72S CTCFL_uc010giw.1_Silent_p.S72S|CTCFL_uc002xym.2_Silent_p.S72S|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.S72S|CTCFL_uc010gjb.1_Silent_p.S72S|CTCFL_uc010gjc.1_Silent_p.S72S|CTCFL_uc010gjd.1_Silent_p.S72S|CTCFL_uc010gje.2_Silent_p.S72S|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.S72S|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Silent_p.S72S|CTCFL_uc010gjk.1_Silent_p.S72S|CTCFL_uc010gjl.1_Silent_p.S72S NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 72 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CGCTCTCCTCCGAGGGGGCCA 0.587 NA 37 63 0 0 0.003755 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61910347 61910347 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr20:61910347G>T uc002yem.2 + 7 739 c.627G>T c.(625-627)TCG>TCT p.S209S ARFGAP1_uc011aas.1_Silent_p.S156S|ARFGAP1_uc011aat.1_Silent_p.S96S|ARFGAP1_uc002yel.2_Silent_p.S209S|ARFGAP1_uc002yen.2_Silent_p.S209S NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 209 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) CCCTGTACTCGGTGAGGACTT 0.612 NA 8 19 5.18039e-06 6.34365e-06 0.00308 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253584 32253584 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr21:32253584C>G uc002yov.2 - 1 291 c.260G>C c.(259-261)CGA>CCA p.R87P NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 87 keratin filament structural molecule activity pancreas(1) 1 GGTAGTTTGTCGAGAGCAAGT 0.562 NA 3 31 0 0 0.009096 0 0 COL6A1 1291 broad.mit.edu 37 21 47423462 47423462 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr21:47423462G>T uc002zhu.1 + 35 2724 c.2622G>T c.(2620-2622)GCG>GCT p.A874A COL6A1_uc010gqd.1_Silent_p.A205A|COL6A1_uc002zhv.1_Silent_p.A205A|COL6A1_uc002zhw.1_5'UTR NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 874 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGCGGGTGGCGGTGGTGCAGT 0.697 NA 10 25 1.11149e-13 1.67132e-13 0.008291 1 0 SEZ6L 23544 broad.mit.edu 37 22 26747161 26747161 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr22:26747161C>A uc003acb.2 + 12 2707 c.2551C>A c.(2551-2553)CGT>AGT p.R851S SEZ6L_uc003acc.2_Missense_Mutation_p.R851S|SEZ6L_uc011akc.1_Missense_Mutation_p.R851S|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.R851S|SEZ6L_uc003ace.2_Missense_Mutation_p.R851S|SEZ6L_uc003acf.1_Missense_Mutation_p.R624S|SEZ6L_uc010gvc.1_Missense_Mutation_p.R624S|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 851 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTGCTACAGCCGTGAAACAGG 0.532 NA 19 43 1.10923e-09 1.5224e-09 0.00278 1 0 TTLL8 164714 broad.mit.edu 37 22 50485615 50485615 + Silent SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr22:50485615T>A uc011ark.1 - 4 375 c.375A>T c.(373-375)ACA>ACT p.T125T NM_001080447 NP_001073916 tubulin tyrosine ligase-like family, member 8 ovary(2) 2 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TGAAGGAGGCTGTCTTTGCGT 0.582 NA 5 23 0 0 0.000602 0 0 SRGAP3 9901 broad.mit.edu 37 3 9032338 9032338 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:9032338G>A uc003brf.1 - 21 3420 c.2744C>T c.(2743-2745)GCG>GTG p.A915V SRGAP3_uc003brg.1_Missense_Mutation_p.A891V NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 915 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCCGAACGTCGCCATCCTCCG 0.652 NA T RAF1 pilocytic astrocytoma 5 12 0 0 0.000602 0 0 ATP2B2 491 broad.mit.edu 37 3 10444022 10444022 + Silent SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:10444022C>G uc003bvt.2 - 4 847 c.408G>C c.(406-408)ACG>ACC p.T136T ATP2B2_uc003bvv.2_Silent_p.T136T|ATP2B2_uc003bvw.2_Silent_p.T136T|ATP2B2_uc010hdp.2_Silent_p.T136T|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 136 Extracellular (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CACCCTGGGCCGTCGCACATC 0.582 Ovarian(125;1619 1709 15675 19819 38835) NA 34 73 0 0 0.002836 0 0 ZNF662 389114 broad.mit.edu 37 3 42949613 42949613 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:42949613G>A uc003cmi.2 + 2 359 c.7G>A c.(7-9)GAG>AAG p.E3K ZNF662_uc003cmk.2_Missense_Mutation_p.E64K|ZNF662_uc003cmj.2_5'UTR NM_207404 NP_997287 Q6ZS27 ZN662_HUMAN zinc finger protein 662 isoform 1 3 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) TGTGATGCTGGAGAATTATGG 0.567 NA 7 25 0 0 0.00308 0 0 UQCRC1 7384 broad.mit.edu 37 3 48646610 48646610 + Silent SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:48646610A>G uc003cub.1 - 2 240 c.195T>C c.(193-195)TCT>TCC p.S65S UQCRC1_uc003cuc.1_Silent_p.S65S|UQCRC1_uc003cud.1_Silent_p.S65S NM_003365 NP_003356 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 65 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) AAGTGGGCTGAGAGGACTGCT 0.647 NSCLC(81;1112 1427 27031 32409 45529) NA 16 21 0 0 0.006122 0 0 BSN 8927 broad.mit.edu 37 3 49699759 49699759 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:49699759G>T uc003cxe.3 + 6 10595 c.10481G>T c.(10480-10482)CGA>CTA p.R3494L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3494 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCCGGGTACGACCCCCCATG 0.687 NA 3 22 0.004672 0.00500222 0.004672 1 0 CNTN3 5067 broad.mit.edu 37 3 74350822 74350822 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:74350822C>A uc003dpm.1 - 14 2001 c.1921G>T c.(1921-1923)GTG>TTG p.V641L NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 641 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGCCAACCCACGGAGAAAGGT 0.448 NA 17 40 2.94398e-08 3.90938e-08 0.007413 1 0 CNTN3 5067 broad.mit.edu 37 3 74350861 74350861 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:74350861C>G uc003dpm.1 - 14 1962 c.1882G>C c.(1882-1884)GTT>CTT p.V628L NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 628 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TAGGATATAACTGGGCTATGG 0.463 NA 10 55 0 0 0.008291 0 0 CASR 846 broad.mit.edu 37 3 122003983 122003983 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:122003983G>A uc003eev.3 + 7 3554 c.3182G>A c.(3181-3183)AGC>AAC p.S1061N CASR_uc003eew.3_Missense_Mutation_p.S1071N NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 1061 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGTTCACAGAGCTTTGTCATC 0.517 NA 30 70 0 0 0.002836 0 0 PLCH1 23007 broad.mit.edu 37 3 155199813 155199813 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:155199813C>A uc011bok.1 - 23 4303 c.4026G>T c.(4024-4026)GAG>GAT p.E1342D PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.E1304D NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1342 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTATTACATCCTCCAGGGTCA 0.468 NA 6 61 5.9392e-07 7.61484e-07 0.001168 1 0 ARL14 80117 broad.mit.edu 37 3 160395577 160395577 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:160395577A>G uc003fdq.2 + 1 630 c.443A>G c.(442-444)GAC>GGC p.D148G NM_025047 NP_079323 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 148 small GTPase mediated signal transduction intracellular GTP binding 0 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) CTTTGCAGTGACCGGAACTGG 0.498 NA 21 52 0 0 0.002299 0 0 SI 6476 broad.mit.edu 37 3 164766917 164766917 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr3:164766917C>A uc003fei.2 - 15 1775 c.1713G>T c.(1711-1713)GAG>GAT p.E571D NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 571 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCACTTACTGCTCTGTGGCTA 0.328 NA HNSCC(35;0.089) 6 53 8.12818e-05 9.33828e-05 0.001984 1 0 CPZ 8532 broad.mit.edu 37 4 8616159 8616159 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:8616159C>T uc003glm.2 + 9 1563 c.1437C>T c.(1435-1437)CCC>CCT p.P479P CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.P342P|CPZ_uc003glo.2_Silent_p.P468P|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 479 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 TGAAGTTCCCCCCCGAGGAGG 0.572 NA 7 27 0 0 0.001984 0 0 BOD1L 259282 broad.mit.edu 37 4 13588025 13588025 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:13588025T>A uc003gmz.1 - 17 8545 c.8428A>T c.(8428-8430)ACA>TCA p.T2810S NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2810 DNA binding ovary(5)|breast(1) 6 AATACCTTTGTGTCATGTGGC 0.363 NA 19 47 0 0 0.001882 0 0 SLIT2 9353 broad.mit.edu 37 4 20597397 20597397 + Missense_Mutation SNP A A C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:20597397A>C uc003gpr.1 + 31 3464 c.3260A>C c.(3259-3261)AAC>ACC p.N1087T SLIT2_uc003gps.1_Missense_Mutation_p.N1079T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1087 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AAGTGTAAAAACGGAGCCCAC 0.423 NA 11 110 0 0 0.000978 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814445 23814445 + Missense_Mutation SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:23814445T>G uc003gqs.2 - 10 2064 c.1944A>C c.(1942-1944)GAA>GAC p.E648D PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 648 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TGCGATATTCTTCCCTCTTCA 0.463 Esophageal Squamous(29;694 744 13796 34866 44181) NA 16 191 0 0 0.006122 0 0 PCDH7 5099 broad.mit.edu 37 4 30725632 30725632 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:30725632A>T uc003gsk.1 + 1 3596 c.2588A>T c.(2587-2589)CAG>CTG p.Q863L PCDH7_uc011bxw.1_Missense_Mutation_p.Q816L|PCDH7_uc011bxx.1_Missense_Mutation_p.Q863L NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 863 Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CCACTCACCCAGGATATAGCT 0.448 NA 16 50 0 0 0.004007 0 0 SLAIN2 57606 broad.mit.edu 37 4 48381723 48381723 + Silent SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:48381723A>G uc003gya.3 + 4 864 c.720A>G c.(718-720)TCA>TCG p.S240S SLAIN2_uc003gyb.1_5'Flank NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 240 centrosome 0 TGAAAAGCTCAGACAGAAATC 0.313 NA 10 60 0 0 0.006214 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68934421 68934421 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:68934421G>T uc003hdt.1 - 7 719 c.670C>A c.(670-672)CTC>ATC p.L224I LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 224 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ATGAGCTGGAGGCTGGCCTGC 0.507 NA 10 57 2.74318e-10 3.86883e-10 0.006214 1 0 YTHDC1 91746 broad.mit.edu 37 4 69197847 69197847 + Nonsense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:69197847C>A uc003hdx.2 - 7 1449 c.1096G>T c.(1096-1098)GAG>TAG p.E366* YTHDC1_uc003hdy.2_Nonsense_Mutation_p.E348* NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 366 YTH. upper_aerodigestive_tract(1)|ovary(1) 2 GACACATTCTCATGGTTGTTA 0.318 NA 11 62 1.15088e-07 1.49431e-07 0.004007 1 0 UGT2B28 54490 broad.mit.edu 37 4 70160247 70160247 + Splice_Site SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:70160247G>C uc003hej.2 + 6 1313 c.1311_splice c.e6-1 p.S437_splice UGT2B28_uc010ihr.2_Splice_Site_p.I335_splice NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) TTATCCTTCAGATATAAAGAG 0.333 NA 12 76 0 0 0.003163 0 0 MUC7 4589 broad.mit.edu 37 4 71347269 71347269 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:71347269G>T uc011cat.1 + 4 1096 c.808G>T c.(808-810)GAC>TAC p.D270Y MUC7_uc011cau.1_Missense_Mutation_p.D270Y|MUC7_uc003hfj.2_Missense_Mutation_p.D270Y|uc011cav.1_Intron NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 270 Thr-rich.|5. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) AACTACCCTAGACCCATCATC 0.592 NA 15 119 1.15088e-07 1.49431e-07 0.004007 1 0 CCDC158 339965 broad.mit.edu 37 4 77305770 77305770 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:77305770T>C uc003hkb.3 - 4 490 c.337A>G c.(337-339)ATT>GTT p.I113V CCDC158_uc003hkd.2_Missense_Mutation_p.I113V NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 113 Potential. skin(3)|ovary(2)|pancreas(1) 6 TGCAAATCAATGACTGACTGC 0.333 NA 42 126 0 0 0.009718 0 0 FRAS1 80144 broad.mit.edu 37 4 79373507 79373507 + Silent SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:79373507A>T uc003hlb.2 + 47 7202 c.6762A>T c.(6760-6762)CCA>CCT p.P2254P NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2253 CSPG 10.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CAGCATCACCAGGTAAGTCTA 0.463 NA 4 16 0 0 0.009096 0 0 WDFY3 23001 broad.mit.edu 37 4 85660237 85660237 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:85660237C>A uc003hpd.2 - 40 6908 c.6500G>T c.(6499-6501)CGC>CTC p.R2167L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2167 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) TGTGGTCATGCGGGCTTCTGC 0.413 NA 12 79 3.27435e-08 4.30614e-08 0.00245 1 0 MEPE 56955 broad.mit.edu 37 4 88766342 88766342 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:88766342A>T uc003hqy.2 + 4 361 c.322A>T c.(322-324)ACT>TCT p.T108S MEPE_uc010ikn.2_5'UTR NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 108 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CAAAGAGAATACTCACAATGG 0.358 NA 27 72 0 0 0.008361 0 0 USP53 54532 broad.mit.edu 37 4 120170028 120170029 + Nonsense_Mutation DNP GG GG CT rs144065914 by1000genomes TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:120170028_120170029GG>CT uc003ics.3 + 6 1429_1430 c.363_364GG>CT c.(361-366)GCGGAG>GCCTAG p.E122* USP53_uc003icr.3_Nonsense_Mutation_p.E122*|USP53_uc003icu.3_5'UTR NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 122 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 ATGATGCTGCGGAGTGCTTTGT 0.386 NA 14 130 0 0 0.004672 0 0 INTU 27152 broad.mit.edu 37 4 128584607 128584607 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:128584607G>A uc003ifk.1 + 4 910 c.840G>A c.(838-840)CAG>CAA p.Q280Q INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 280 ovary(1) 1 AAAAGACACAGTCCAACACAA 0.393 NA 26 44 0 0 0.004656 0 0 DCHS2 54798 broad.mit.edu 37 4 155155900 155155900 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:155155900C>A uc003inw.2 - 25 8539 c.8539G>T c.(8539-8541)GGG>TGG p.G2847W NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2847 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GGCACCTGCCCCAGGTTTACT 0.498 NA 19 177 5.03518e-11 7.25137e-11 0.007413 1 0 DCHS2 54798 broad.mit.edu 37 4 155155902 155155902 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:155155902A>G uc003inw.2 - 25 8537 c.8537T>C c.(8536-8538)CTG>CCG p.L2846P NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2846 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CACCTGCCCCAGGTTTACTGC 0.507 NA 20 188 0 0 0.008871 0 0 HPGD 3248 broad.mit.edu 37 4 175443105 175443105 + Silent SNP T T C rs146392763 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:175443105T>C uc003itu.2 - 2 397 c.207A>G c.(205-207)CAA>CAG p.Q69Q HPGD_uc003itv.2_Silent_p.Q69Q|HPGD_uc011ckf.1_5'UTR|HPGD_uc010irp.2_Intron|HPGD_uc010irq.2_Silent_p.Q69Q|HPGD_uc011ckg.1_Silent_p.Q69Q|HPGD_uc011ckh.1_5'UTR|HPGD_uc003itw.2_Silent_p.Q69Q|HPGD_uc003itx.2_Silent_p.Q69Q NM_000860 NP_000851 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 69 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity 0 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) CTCTCAGTTGTTGCTGGTCAG 0.537 NA 18 164 0 0 0.001882 0 0 WDR17 116966 broad.mit.edu 37 4 177061073 177061073 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:177061073T>A uc003iuj.2 + 11 1618 c.1462T>A c.(1462-1464)TGG>AGG p.W488R WDR17_uc003iuk.2_Missense_Mutation_p.W464R|WDR17_uc003ium.3_Missense_Mutation_p.W464R|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 488 WD 8. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTGCATTGCCTGGAGTCATAA 0.303 NA 23 152 0 0 0.008361 0 0 KIAA0947 23379 broad.mit.edu 37 5 5486895 5486895 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:5486895G>T uc003jdm.3 + 18 6804 c.6582G>T c.(6580-6582)TCG>TCT p.S2194S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2194 ovary(1)|central_nervous_system(1) 2 ATATTAGTTCGGTTATTGGTA 0.328 NA 20 7 1.87028e-06 2.36825e-06 0.001882 1 0 TRIO 7204 broad.mit.edu 37 5 14364019 14364019 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:14364019A>G uc003jff.2 + 14 2576 c.2570A>G c.(2569-2571)AAT>AGT p.N857S TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.N808S|TRIO_uc003jfh.1_Missense_Mutation_p.N506S NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 857 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CAGTATGTCAATGAGGTCCAG 0.507 NA 9 81 0 0 0.004482 0 0 PRDM9 56979 broad.mit.edu 37 5 23526524 23526524 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:23526524G>A uc003jgo.2 + 11 1509 c.1327G>A c.(1327-1329)GAT>AAT p.D443N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 443 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GCAATATCCAGATCCACACAG 0.473 NA HNSCC(3;0.000094) 7 112 0 0 0.00308 0 0 PRDM9 56979 broad.mit.edu 37 5 23526569 23526569 + Nonsense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:23526569G>T uc003jgo.2 + 11 1554 c.1372G>T c.(1372-1374)GAA>TAA p.E458* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 458 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAGATCAAAGAAAGGTCCAA 0.483 NA HNSCC(3;0.000094) 6 59 8.12818e-05 9.33828e-05 0.001984 1 0 PRDM9 56979 broad.mit.edu 37 5 23526586 23526586 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:23526586G>A uc003jgo.2 + 11 1571 c.1389G>A c.(1387-1389)TTG>TTA p.L463L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 463 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CCAAACTCTTGAATAAAAGGA 0.463 NA HNSCC(3;0.000094) 5 56 0 0 0.001168 0 0 PRDM9 56979 broad.mit.edu 37 5 23526601 23526601 + Nonsense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:23526601G>A uc003jgo.2 + 11 1586 c.1404G>A c.(1402-1404)TGG>TGA p.W468* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 468 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AAAGGACATGGCAGAGGGAGA 0.453 NA HNSCC(3;0.000094) 6 64 0 0 0.001984 0 0 CDH10 1008 broad.mit.edu 37 5 24487942 24487942 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:24487942G>T uc003jgr.1 - 12 2529 c.2197C>A c.(2197-2199)CTT>ATT p.L733I CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 733 Cytoplasmic (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) TAGGTTGCAAGTGAGTCGTAG 0.468 NA HNSCC(23;0.051) 21 314 1.50039e-11 2.1761e-11 0.001882 1 0 IL7R 3575 broad.mit.edu 37 5 35874576 35874576 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:35874576C>A uc003jjs.2 + 6 821 c.732C>A c.(730-732)ACC>ACA p.T244T IL7R_uc011coo.1_Intron|IL7R_uc011cop.1_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 244 Helical; (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCTTACTAACCATCAGCATTT 0.443 NA 12 304 2.68362e-12 3.96246e-12 0.001368 1 0 RICTOR 253260 broad.mit.edu 37 5 38949913 38949913 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:38949913G>C uc003jlp.2 - 31 4061 c.4037C>G c.(4036-4038)TCT>TGT p.S1346C RICTOR_uc003jlo.2_Missense_Mutation_p.S1346C|RICTOR_uc010ivf.2_Missense_Mutation_p.S1061C NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1346 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTCAGAGTGAGATAAGGATGG 0.408 NA 13 219 0 0 0.001368 0 0 C6 729 broad.mit.edu 37 5 41142965 41142965 + Missense_Mutation SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:41142965T>G uc003jmk.2 - 18 2977 c.2767A>C c.(2767-2769)AAG>CAG p.K923Q C6_uc003jml.1_Missense_Mutation_p.K923Q NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 923 Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTTCCATCTTCCTGTTTGCA 0.433 NA 11 191 0 0 0.001855 0 0 SNX18 112574 broad.mit.edu 37 5 53814525 53814525 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:53814525C>T uc003jpj.3 + 1 933 c.743C>T c.(742-744)GCG>GTG p.A248V SNX18_uc011cqg.1_Missense_Mutation_p.A248V|SNX18_uc003jpi.3_Missense_Mutation_p.A248V NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 248 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) CTGGGGGAGGCGTCAGGCTTC 0.672 NA 11 72 0 0 0.001368 0 0 PJA2 9867 broad.mit.edu 37 5 108717348 108717348 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:108717348T>C uc003kos.3 - 3 308 c.88A>G c.(88-90)ACA>GCA p.T30A NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 30 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) CCTGTAATTGTCTGATACCCT 0.418 NA 10 81 0 0 0.000978 0 0 TRPC7 57113 broad.mit.edu 37 5 135692916 135692916 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:135692916C>A uc003lbn.1 - 1 160 c.157G>T c.(157-159)GGC>TGC p.G53C TRPC7_uc010jef.1_Missense_Mutation_p.G45C|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.G45C|TRPC7_uc010jei.1_Missense_Mutation_p.G45C|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 54 Cytoplasmic (Potential).|ANK 1. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGATGTTGCCATACTCAGCC 0.622 NA 17 114 6.94344e-10 9.65942e-10 0.006122 1 0 SLC23A1 9963 broad.mit.edu 37 5 138718265 138718265 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:138718265C>T uc003leh.2 - 2 163 c.66G>A c.(64-66)CCG>CCA p.P22P SLC23A1_uc003leg.2_Silent_p.P22P NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 22 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CTGTGGGTAGCGGGGTCGAGG 0.567 NA 3 47 0 0 0.004672 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215949 140215949 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:140215949G>A uc003lhq.2 + 1 1981 c.1981G>A c.(1981-1983)GCC>ACC p.A661T 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.A661T NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 661 Cadherin 6.|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) CTCGCTGACAGCCACAGCCAC 0.657 NSCLC(160;258 2013 5070 22440 28951) NA 11 44 0 0 0.000978 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256413 140256413 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:140256413G>T uc003lic.2 + 1 1483 c.1356G>T c.(1354-1356)GCG>GCT p.A452A 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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A452A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 452 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGACAATGCGCCTGCGTTCG 0.662 Pancreas(113;759 1672 13322 24104 50104) NA 14 68 3.27435e-08 4.30614e-08 0.00245 1 0 PCDHB1 29930 broad.mit.edu 37 5 140431512 140431512 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:140431512C>T uc003lik.1 + 1 534 c.457C>T c.(457-459)CCT>TCT p.P153S NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 153 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCACGTTTTCCTCTGCAGAG 0.527 NA 8 31 0 0 0.006214 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482154 140482154 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:140482154G>A uc003lio.2 + 1 1921 c.1921G>A c.(1921-1923)GTG>ATG p.V641M uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 641 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAGGCTGGTGGTGCTGGT 0.701 NA 6 44 0 0 0.001168 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594897 140594897 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:140594897A>G uc003lja.1 + 1 1389 c.1202A>G c.(1201-1203)TAC>TGC p.Y401C NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 401 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAACTTTTACACCCTACTA 0.448 NA 6 48 0 0 0.001984 0 0 FAM71B 153745 broad.mit.edu 37 5 156592624 156592624 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:156592624G>T uc003lwn.2 - 1 656 c.556C>A c.(556-558)CCA>ACA p.P186T NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 186 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAAGTGTTGGGGTACTGCAG 0.512 NA 40 223 4.92203e-23 8.11737e-23 0.00623 1 0 ATP10B 23120 broad.mit.edu 37 5 160061467 160061467 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:160061467G>T uc003lym.1 - 12 2122 c.1275C>A c.(1273-1275)GGC>GGA p.G425G ATP10B_uc003lyp.2_Silent_p.G425G|ATP10B_uc011deg.1_Silent_p.G469G|ATP10B_uc003lyn.2_5'UTR|ATP10B_uc003lyo.2_Silent_p.G397G NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 425 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTGGATCTGGCCCAAGTCCT 0.502 NA 22 94 2.39556e-15 3.68341e-15 0.00278 1 0 DOCK2 1794 broad.mit.edu 37 5 169186763 169186763 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:169186763G>C uc003maf.2 + 24 2511 c.2431G>C c.(2431-2433)GAT>CAT p.D811H DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D303H NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 811 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATGGTCTTTGATGCGAAGTT 0.468 NA 13 84 0 0 0.003163 0 0 DOCK2 1794 broad.mit.edu 37 5 169446013 169446013 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:169446013G>A uc003maf.2 + 33 3362 c.3282G>A c.(3280-3282)GAG>GAA p.E1094E DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.E586E NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1094 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTATATTAGAGATGACACTTA 0.453 NA 33 210 0 0 0.002836 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541268 178541268 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:178541268T>C uc003mjw.2 - 22 3236 c.3236A>G c.(3235-3237)TAT>TGT p.Y1079C uc003mjv.3_5'Flank NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 1079 PLAC. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GATGGAGCAATAGCGGGACAA 0.502 NA 5 22 0 0 0.001168 0 0 BTNL3 10917 broad.mit.edu 37 5 180419856 180419856 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:180419856G>T uc003mmr.2 + 2 221 c.93G>T c.(91-93)TTG>TTT p.L31F NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 31 Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TCCAGGCCTTGGTGGGGGAGG 0.542 NA 10 21 0.00136819 0.00149623 0.001368 1 0 ATXN1 6310 broad.mit.edu 37 6 16328216 16328216 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:16328216G>A uc003nbt.2 - 8 1297 c.326C>T c.(325-327)CCG>CTG p.P109L ATXN1_uc010jpi.2_Missense_Mutation_p.P109L|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 109 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGGCTGCGGGGTGGCGTA 0.647 NA 14 56 0 0 0.00245 0 0 RBM24 221662 broad.mit.edu 37 6 17292081 17292081 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:17292081C>A uc003nbz.3 + 4 446 c.442C>A c.(442-444)CCT>ACT p.P148T RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.P90T|RBM24_uc003nca.2_Missense_Mutation_p.P103T|RBM24_uc011diy.1_Silent_p.P61P|RBM24_uc011diz.1_Silent_p.P46P NM_001143942 NP_001137414 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 isoform 1 148 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding ovary(1)|skin(1) 2 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CTCCACCACCCCTTACATTGA 0.478 NA 14 90 4.36969e-10 6.09967e-10 0.001855 1 0 TRIM39 56658 broad.mit.edu 37 6 30309955 30309955 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:30309955G>T uc010jrz.2 + 9 1788 c.1476G>T c.(1474-1476)TGG>TGT p.W492C TRIM39_uc003npz.2_Missense_Mutation_p.W462C|TRIM39_uc003nqb.2_Missense_Mutation_p.W462C|TRIM39_uc003nqc.2_Missense_Mutation_p.W462C|TRIM39_uc010jsa.1_Intron|RPP21_uc003nqd.1_5'Flank|RPP21_uc003nqe.1_5'Flank|RPP21_uc003nqf.1_5'Flank NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 492 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 AGAAACTTTGGCCCCTCTTCT 0.507 NA 8 34 3.09899e-07 3.99838e-07 0.004482 1 0 TMEM217 221468 broad.mit.edu 37 6 37186304 37186304 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:37186304C>G uc003onl.2 - 2 584 c.503G>C c.(502-504)CGA>CCA p.R168P TMEM217_uc010jwr.2_Missense_Mutation_p.R168P|TMEM217_uc010jws.2_Intron|TMEM217_uc003onm.3_Missense_Mutation_p.R168P NM_145316 NP_660359 Q8N7C4 TM217_HUMAN transmembrane protein 217 isoform 1 168 integral to membrane 0 TGTAGAAATTCGTCTCTTGTA 0.313 NA 25 138 0 0 0.007291 0 0 CUL7 9820 broad.mit.edu 37 6 43018826 43018826 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:43018826C>G uc003otq.2 - 4 1416 c.1113G>C c.(1111-1113)TTG>TTC p.L371F CUL7_uc011dvb.1_Missense_Mutation_p.L455F|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 371 Interaction with TP53. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCCGCACATACAAAGCATAGG 0.592 NA 26 49 0 0 0.003954 0 0 ZNF318 24149 broad.mit.edu 37 6 43307502 43307502 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:43307502C>T uc003oux.2 - 10 4312 c.4234G>A c.(4234-4236)GGG>AGG p.G1412R ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1412 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ACCTCTTCCCCTCCAAATGCT 0.413 NA 13 64 0 0 0.001368 0 0 TDRD6 221400 broad.mit.edu 37 6 46660740 46660740 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:46660740G>C uc003oyj.2 + 1 4875 c.4875G>C c.(4873-4875)CTG>CTC p.L1625L TDRD6_uc010jze.2_Silent_p.L1619L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1625 Tudor 7. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CTGAACTTCTGTCGGTTCCCA 0.408 NA 28 117 0 0 0.002445 0 0 PRIM2 5558 broad.mit.edu 37 6 57398139 57398139 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:57398139C>T uc003pdx.2 + 10 929 c.842C>T c.(841-843)ACC>ATC p.T281I NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 281 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) TAGCTTTCTACCAAATCCTTC 0.368 NA 21 113 0 0 0.001882 0 0 BCKDHB 594 broad.mit.edu 37 6 80838877 80838877 + Splice_Site SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:80838877G>T uc003pjd.2 + 3 342 c.275_splice c.e3-1 p.V92_splice BCKDHB_uc003pje.2_Splice_Site_p.V92_splice NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) CTGTTTTTCAGTAATATTTGG 0.254 NA 16 56 1.15088e-07 1.49431e-07 0.004007 1 0 MED23 9439 broad.mit.edu 37 6 131943063 131943063 + Silent SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:131943063T>A uc003qcs.1 - 6 627 c.453A>T c.(451-453)ACA>ACT p.T151T MED23_uc003qcq.2_Silent_p.T151T|MED23_uc003qct.1_Silent_p.T151T|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 151 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CAGAGCTCACTGTATTAGGAA 0.358 NA 24 107 0 0 0.004656 0 0 VNN2 8875 broad.mit.edu 37 6 133073886 133073886 + Nonsense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:133073886G>C uc003qdt.2 - 4 551 c.540C>G c.(538-540)TAC>TAG p.Y180* VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Nonsense_Mutation_p.Y127* NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 180 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) AGTACAGGTGGTACTACAACA 0.403 NA 11 92 0 0 0.000978 0 0 TXLNB 167838 broad.mit.edu 37 6 139598001 139598001 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:139598001T>A uc011eds.1 - 3 647 c.482A>T c.(481-483)AAG>ATG p.K161M NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 161 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) AAAATCAAACTTTTCTTCCGG 0.343 NA 6 43 0 0 0.001168 0 0 GRM1 2911 broad.mit.edu 37 6 146480615 146480615 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr6:146480615C>A uc010khw.1 + 3 1302 c.832C>A c.(832-834)CGA>AGA p.R278R GRM1_uc010khu.1_Silent_p.R278R|GRM1_uc010khv.1_Silent_p.R278R|GRM1_uc003qll.2_Silent_p.R278R|GRM1_uc011edz.1_Silent_p.R278R|GRM1_uc011eea.1_Silent_p.R278R NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 278 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GCGCAAACTCCGAGAGAGGCT 0.587 NA 7 44 8.12818e-05 9.33828e-05 0.001984 1 0 MMD2 221938 broad.mit.edu 37 7 4965100 4965100 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:4965100G>T uc003sno.3 - 2 307 c.111C>A c.(109-111)GCC>GCA p.A37A MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Silent_p.A37A|MMD2_uc010ksq.2_Silent_p.A37A NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 37 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) TGGCACAGTTGGCCGCATGTT 0.602 NA 11 126 5.50884e-06 6.7057e-06 0.001368 1 0 NOD1 10392 broad.mit.edu 37 7 30492353 30492353 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:30492353C>A uc003tav.2 - 6 1203 c.680G>T c.(679-681)GGG>GTG p.G227V NOD1_uc010kvs.2_Intron NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 227 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 GAATTTGACCCCTGCGTCTAG 0.582 NA 7 86 0.00198382 0.00214651 0.001984 1 0 TBX20 57057 broad.mit.edu 37 7 35242211 35242211 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:35242211C>T uc011kas.1 - 8 1186 c.1175G>A c.(1174-1176)CGA>CAA p.R392Q NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 392 nucleus DNA binding central_nervous_system(1) 1 CATTCCCAGTCGGCTATATGG 0.552 NA 9 34 0 0 0.008291 0 0 VPS41 27072 broad.mit.edu 37 7 38937702 38937702 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:38937702C>T uc003tgy.2 - 2 75 c.49G>A c.(49-51)GAT>AAT p.D17N VPS41_uc003tgz.2_Missense_Mutation_p.D17N|VPS41_uc010kxn.2_Missense_Mutation_p.D17N NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 17 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TCAGACTCATCTGTAGATTCT 0.428 NA 4 77 0 0 0.009096 0 0 RALA 5898 broad.mit.edu 37 7 39736360 39736360 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:39736360A>G uc003thd.2 + 4 700 c.400A>G c.(400-402)AAA>GAA p.K134E NM_005402 NP_005393 P11233 RALA_HUMAN ras related v-ral simian leukemia viral oncogene 134 actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity lung(1)|skin(1) 2 TTTAGAAGATAAAAGACAGGT 0.363 NA 22 66 0 0 0.00278 0 0 CCM2 83605 broad.mit.edu 37 7 45104118 45104118 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:45104118G>C uc003tmo.2 + 4 491 c.345G>C c.(343-345)CTG>CTC p.L115L CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.L57L|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.L115L|CCM2_uc011kcb.1_Silent_p.L78L|CCM2_uc011kcc.1_Silent_p.L108L|CCM2_uc003tms.2_Silent_p.L136L NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 115 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 TGCTCAGCCTGTCTGCGTACA 0.582 NA Familial_Cerebral_Cavernous_Angioma 6 24 0 0 0.001168 0 0 UPP1 7378 broad.mit.edu 37 7 48146550 48146550 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:48146550G>T uc003toj.2 + 8 1046 c.517G>T c.(517-519)GGG>TGG p.G173W UPP1_uc003tok.2_Missense_Mutation_p.G173W|UPP1_uc003tol.2_Missense_Mutation_p.G173W|UPP1_uc011kch.1_5'UTR|UPP1_uc003ton.2_Missense_Mutation_p.G36W|UPP1_uc003too.2_Missense_Mutation_p.G36W NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 173 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 GATTGTCCTGGGGAAGCGGGT 0.542 NA 12 82 3.07112e-06 3.79482e-06 0.000978 1 0 ZNF107 51427 broad.mit.edu 37 7 64167304 64167304 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:64167304A>T uc003ttd.2 + 7 1408 c.622A>T c.(622-624)ATA>TTA p.I208L ZNF107_uc003tte.2_Missense_Mutation_p.I208L NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 208 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TATACATAAAATAATTCATAC 0.368 NA 10 72 0 0 0.006214 0 0 CRCP 27297 broad.mit.edu 37 7 65610483 65610483 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:65610483A>T uc003tus.2 + 5 438 c.293A>T c.(292-294)CAG>CTG p.Q98L CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.Q91L|CRCP_uc003tut.2_Missense_Mutation_p.Q65L|CRCP_uc003tuu.2_Missense_Mutation_p.Q21L NM_014478 NP_055293 O75575 RPC9_HUMAN calcitonin gene-related peptide-receptor 98 acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter DNA polymerase III complex|nucleus|plasma membrane calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding 0 GTGGAGATCCAGCTGGTGAGT 0.562 NA 12 96 0 0 0.001368 0 0 ABCB1 5243 broad.mit.edu 37 7 87133638 87133638 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:87133638C>A uc003uiz.1 - 29 4182 c.3764G>T c.(3763-3765)GGC>GTC p.G1255V ABCB1_uc011khc.1_Missense_Mutation_p.G1191V NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 1255 Cytoplasmic (Potential).|ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTGATGCGTGCCATGCTCCTT 0.502 NA 16 84 3.52763e-06 4.34579e-06 0.00499 1 0 DLX5 1749 broad.mit.edu 37 7 96650229 96650229 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:96650229G>C uc003uon.2 - 3 897 c.689C>G c.(688-690)TCC>TGC p.S230C NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 230 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GAGCGAGCGGGACGAGCCCTG 0.647 NA 10 41 0 0 0.008291 0 0 MUC17 140453 broad.mit.edu 37 7 100683669 100683669 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:100683669G>C uc003uxp.1 + 3 9025 c.8972G>C c.(8971-8973)AGT>ACT p.S2991T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2991 Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCATTAACAAGTATGTCTGTC 0.512 NA 41 220 0 0 0.002522 0 0 DOCK4 9732 broad.mit.edu 37 7 111535708 111535708 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:111535708C>T uc003vfx.2 - 16 1816 c.1547G>A c.(1546-1548)AGG>AAG p.R516K DOCK4_uc003vfy.2_Missense_Mutation_p.R516K|DOCK4_uc003vga.1_Missense_Mutation_p.R121K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 516 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TGGAAGAGTCCTACCATCTTC 0.413 NA 67 236 0 0 0.00361 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117417770 117417770 + Missense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:117417770C>G uc003vjf.2 - 8 2665 c.2573G>C c.(2572-2574)AGC>ACC p.S858T NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 858 ANK 5. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AAGCTTGAGGCTGTCCACATT 0.448 NA 10 73 0 0 0.006214 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432194 117432194 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:117432194G>T uc003vjf.2 - 4 1148 c.1056C>A c.(1054-1056)GCC>GCA p.A352A NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 352 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TACCTGGTCTGGCCATGGTGG 0.498 NA 13 115 1.5842e-08 2.11744e-08 0.001855 1 0 C7orf58 79974 broad.mit.edu 37 7 120765938 120765938 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:120765938G>T uc003vjq.3 + 9 1573 c.1126G>T c.(1126-1128)GTG>TTG p.V376L C7orf58_uc003vjr.1_Missense_Mutation_p.V376L|C7orf58_uc003vjs.3_Missense_Mutation_p.V376L|C7orf58_uc003vjt.3_Missense_Mutation_p.V156L|C7orf58_uc010lkk.1_Missense_Mutation_p.V156L NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 376 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GTACCCTGTAGTGCTCCAGGT 0.388 NA 10 56 0.000442599 0.000491911 0.006214 1 0 RNF133 168433 broad.mit.edu 37 7 122338345 122338345 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:122338345T>C uc003vkj.1 - 1 864 c.628A>G c.(628-630)ATT>GTT p.I210V CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 210 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 AGTCTATGAATGTGATAAAAG 0.398 Colon(198;1778 2057 7449 19869 45985) NA 16 103 0 0 0.003163 0 0 OR2A1 346528 broad.mit.edu 37 7 144015559 144015559 + Silent SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:144015559G>A uc011kud.1 + 1 324 c.324G>A c.(322-324)CTG>CTA p.L108L OR2A9P_uc003wec.1_Intron NM_001001802 NP_001001802 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.14) GTCTCCTGCTGGTGCTGATGT 0.557 NA 10 76 0 0 0.00499 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325428 150325428 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:150325428C>A uc003whn.2 - 3 682 c.258G>T c.(256-258)TGG>TGT p.W86C GIMAP6_uc003whm.2_Intron NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 86 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTTCCCAGCCCACTCTCGGC 0.582 NA 24 150 1.66031e-10 2.37435e-10 0.003954 1 0 GIMAP5 55340 broad.mit.edu 37 7 150439764 150439764 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:150439764G>T uc003whr.1 + 3 889 c.537G>T c.(535-537)GAG>GAT p.E179D GIMAP5_uc010lpu.2_Missense_Mutation_p.E37D NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 179 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGTGCGGGAGTGTGAGAGAA 0.582 NA 8 106 5.4927e-09 7.38985e-09 0.004482 1 0 XPO7 23039 broad.mit.edu 37 8 21860812 21860812 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:21860812T>C uc003xaa.3 + 26 3128 c.3026T>C c.(3025-3027)ATA>ACA p.I1009T XPO7_uc010lti.2_Missense_Mutation_p.I1018T|XPO7_uc010ltk.2_Missense_Mutation_p.I1010T NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 1009 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CTTGGCTTGATATTGCTTAAT 0.493 NA 2 13 0 0 0.004672 0 0 ADAM7 8756 broad.mit.edu 37 8 24342845 24342845 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:24342845C>A uc003xeb.2 + 10 1044 c.931C>A c.(931-933)CTG>ATG p.L311M ADAM7_uc003xec.2_Missense_Mutation_p.L83M NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 311 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGGTATGTGCCTGCCCTATTA 0.368 NA 17 89 2.4624e-09 3.33483e-09 0.008871 1 0 DPYSL2 1808 broad.mit.edu 37 8 26513217 26513217 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:26513217G>T uc003xfb.1 + 14 2064 c.1714G>T c.(1714-1716)GGC>TGC p.G572C DPYSL2_uc003xfa.2_Missense_Mutation_p.G677C|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.G536C NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 572 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) CACCAGCCTGGGCTAGAGCTC 0.537 NA OREG0018659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 48 0.000442599 0.000491911 0.006214 1 0 TEX15 56154 broad.mit.edu 37 8 30694594 30694594 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:30694594A>T uc003xil.2 - 3 8057 c.8057T>A c.(8056-8058)GTA>GAA p.V2686E NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2686 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGATGGCTGTACTTCATATGA 0.438 NA 19 88 0 0 0.001882 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66963858 66963858 + Silent SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:66963858C>T uc003xvs.1 + 3 367 c.76C>T c.(76-78)CTG>TTG p.L26L DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 26 J. protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AATTCTTGGTCTGCATAAGGG 0.403 NA 16 162 0 0 0.004007 0 0 TRPA1 8989 broad.mit.edu 37 8 72973915 72973915 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:72973915C>A uc003xza.2 - 7 1064 c.889G>T c.(889-891)GGT>TGT p.G297C NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 297 Cytoplasmic (Potential).|ANK 7. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TCCACGCTACCAGAATAGGAC 0.428 NA 23 117 2.44723e-14 3.72088e-14 0.004656 1 0 FABP12 646486 broad.mit.edu 37 8 82437306 82437306 + Nonsense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:82437306G>T uc011lfp.1 - 4 398 c.398C>A c.(397-399)TCA>TAA p.S133* FABP12_uc003ycg.3_RNA NM_001105281 NP_001098751 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 133 lipid binding|transporter activity 0 TGAGTTTGATGATACTTTCTC 0.323 NA 4 15 0.00024832 0.000279019 0.009096 1 0 CA2 760 broad.mit.edu 37 8 86385979 86385979 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:86385979G>T uc003ydk.2 + 3 470 c.290G>T c.(289-291)TGG>TTG p.W97L NM_000067 NP_000058 P00918 CAH2_HUMAN carbonic anhydrase II 97 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(1) 1 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CACTTTCACTGGGGTTCACTT 0.318 NA 18 131 7.45023e-12 1.08439e-11 0.010504 1 0 MMP16 4325 broad.mit.edu 37 8 89209452 89209452 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:89209452G>T uc003yeb.3 - 2 498 c.216C>A c.(214-216)GCC>GCA p.A72A MMP16_uc003yec.2_Silent_p.A72A NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 72 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TGGCAGCTAGGGCAGACTGCA 0.473 NA 9 71 7.48243e-07 9.50408e-07 0.006214 1 0 RUNX1T1 862 broad.mit.edu 37 8 92999139 92999139 + Silent SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:92999139T>G uc003yfd.2 - 7 1137 c.1053A>C c.(1051-1053)GCA>GCC p.A351A RUNX1T1_uc003yfc.1_Silent_p.A324A|RUNX1T1_uc003yfe.1_Silent_p.A314A|RUNX1T1_uc010mao.2_Silent_p.A324A|RUNX1T1_uc011lgi.1_Silent_p.A362A|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.A314A NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 351 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCCACTCTTCTGCCCATTCTC 0.368 NA 16 237 0 0 0.00499 0 0 KIAA1429 25962 broad.mit.edu 37 8 95531312 95531312 + Missense_Mutation SNP T T A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:95531312T>A uc003ygo.1 - 9 2427 c.2414A>T c.(2413-2415)AAT>ATT p.N805I KIAA1429_uc003ygp.2_Missense_Mutation_p.N805I|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 805 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCCCACAGGATTAAAAGTAAT 0.408 NA 56 81 0 0 0.00361 0 0 RIMS2 9699 broad.mit.edu 37 8 104897787 104897787 + Nonsense_Mutation SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:104897787C>G uc003yls.2 + 2 535 c.294C>G c.(292-294)TAC>TAG p.Y98* RIMS2_uc003ylp.2_Nonsense_Mutation_p.Y320*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.Y128*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.Y128*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.Y128* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 351 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) GAGATGAATACGAAAGGCAAA 0.428 NA HNSCC(12;0.0054) 14 37 0 0 0.001855 0 0 CSMD3 114788 broad.mit.edu 37 8 114326964 114326964 + Silent SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:114326964A>T uc003ynu.2 - 2 396 c.237T>A c.(235-237)CCT>CCA p.P79P CSMD3_uc003ynt.2_Silent_p.P39P|CSMD3_uc011lhx.1_Silent_p.P79P|CSMD3_uc010mcx.1_Silent_p.P79P|CSMD3_uc003ynx.3_Silent_p.P79P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 79 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATGGAAAACCAGGGCTTTCTA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 181 0 0 0.001882 0 0 CSMD3 114788 broad.mit.edu 37 8 114448956 114448956 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:114448956C>A uc003ynu.2 - 1 287 c.128G>T c.(127-129)GGA>GTA p.G43V CSMD3_uc011lhx.1_Missense_Mutation_p.G43V|CSMD3_uc010mcx.1_Missense_Mutation_p.G43V|CSMD3_uc003ynx.3_Missense_Mutation_p.G43V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 43 Helical; (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAACGTAAATCCACTTTTAAT 0.502 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 199 1.10923e-09 1.5224e-09 0.00278 1 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936780 119936780 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:119936780G>T uc003yon.3 - 5 1362 c.1039C>A c.(1039-1041)CAC>AAC p.H347N NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 347 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TTTAGTGCGTGCATTAGGCCC 0.438 NA 53 217 6.3008e-33 1.05616e-32 0.00361 1 0 FER1L6 654463 broad.mit.edu 37 8 125052164 125052164 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:125052164C>A uc003yqw.2 + 20 2712 c.2506C>A c.(2506-2508)CGG>AGG p.R836R uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 836 Cytoplasmic (Potential).|C2 3. 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) GTACCAAGCCCGGGGCCTCAT 0.507 NA 22 90 2.79863e-10 3.93347e-10 0.004656 1 0 OC90 729330 broad.mit.edu 37 8 133053357 133053357 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:133053357C>A uc003ytg.2 - 4 343 c.343G>T c.(343-345)GAC>TAC p.D115Y OC90_uc011lix.1_Missense_Mutation_p.D131Y NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 131 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGGAGACAGTCCATCTCAGCG 0.587 NA 27 114 4.31634e-10 6.04583e-10 0.002445 1 0 FAM135B 51059 broad.mit.edu 37 8 139180172 139180172 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:139180172G>C uc003yuy.2 - 12 1395 c.1224C>G c.(1222-1224)ATC>ATG p.I408M FAM135B_uc003yux.2_Missense_Mutation_p.I309M|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 408 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGTCCTCAAAGATCACCGGCA 0.542 NA HNSCC(54;0.14) 25 152 0 0 0.003954 0 0 FAM135B 51059 broad.mit.edu 37 8 139209829 139209829 + Silent SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:139209829A>T uc003yuy.2 - 8 924 c.753T>A c.(751-753)GCT>GCA p.A251A FAM135B_uc003yux.2_Silent_p.A152A|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 251 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GACCCCGGTAAGCGTGGAGGA 0.597 NA HNSCC(54;0.14) 7 65 0 0 0.001984 0 0 TOP1MT 116447 broad.mit.edu 37 8 144407573 144407573 + Missense_Mutation SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:144407573T>G uc003yxz.2 - 5 633 c.614A>C c.(613-615)AAG>ACG p.K205T TOP1MT_uc011lkd.1_Missense_Mutation_p.K107T|TOP1MT_uc011lke.1_Missense_Mutation_p.K107T|TOP1MT_uc010mfb.2_Missense_Mutation_p.K107T|TOP1MT_uc011lkf.1_5'UTR|TOP1MT_uc010mfd.1_5'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 205 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CATCCCCATCTTGGGATGGTC 0.577 NA 6 72 0 0 0.001984 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620288 144620288 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:144620288C>A uc003yyd.2 - 2 1278 c.1249G>T c.(1249-1251)GGG>TGG p.G417W NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 417 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGTCTGTCCCCCGACGGGGAC 0.632 NA 6 70 0.00116845 0.00128122 0.001168 1 0 ZC3H3 23144 broad.mit.edu 37 8 144621362 144621362 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:144621362G>C uc003yyd.2 - 2 204 c.175C>G c.(175-177)CGG>GGG p.R59G NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 59 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TAGCCCCTCCGGCTTGGACGA 0.652 NA 40 76 0 0 0.002522 0 0 GRINA 2907 broad.mit.edu 37 8 145065687 145065687 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr8:145065687A>T uc003zan.1 + 2 462 c.296A>T c.(295-297)TAC>TTC p.Y99F GRINA_uc003zao.1_Missense_Mutation_p.Y99F|GRINA_uc003zap.1_Missense_Mutation_p.Y99F NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 99 Pro-rich. integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAAGGGGGCTACCCCCAGGGG 0.667 NA 4 10 0 0 0.009096 0 0 KIAA1432 57589 broad.mit.edu 37 9 5772720 5772720 + Missense_Mutation SNP A A C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:5772720A>C uc003zji.2 + 23 3629 c.3536A>C c.(3535-3537)CAT>CCT p.H1179P KIAA1432_uc003zjl.3_Missense_Mutation_p.H1142P|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1258 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AAAGGGCCTCATAAATCCCAG 0.458 NA 5 18 0 0 0.001168 0 0 PTPRD 5789 broad.mit.edu 37 9 8449818 8449818 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:8449818A>T uc003zkk.2 - 33 4606 c.3895T>A c.(3895-3897)TCT>ACT p.S1299T PTPRD_uc003zkp.2_Missense_Mutation_p.S893T|PTPRD_uc003zkq.2_Missense_Mutation_p.S892T|PTPRD_uc003zkr.2_Missense_Mutation_p.S883T|PTPRD_uc003zks.2_Missense_Mutation_p.S878T|PTPRD_uc003zkl.2_Missense_Mutation_p.S1290T|PTPRD_uc003zkm.2_Missense_Mutation_p.S1286T|PTPRD_uc003zkn.2_Missense_Mutation_p.S888T|PTPRD_uc003zko.2_Missense_Mutation_p.S889T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1299 Cytoplasmic (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) CTTTTTCTAGAGTCGGACTCT 0.423 NA TSP Lung(15;0.13) 22 145 0 0 0.001882 0 0 TAF1L 138474 broad.mit.edu 37 9 32635336 32635336 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:32635336G>T uc003zrg.1 - 1 332 c.242C>A c.(241-243)ACG>AAG p.T81K uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 81 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTCATTTGCCGTGAGTTCAGT 0.522 NA 20 93 3.7963e-18 5.99494e-18 0.00333 1 0 PIP5K1B 8395 broad.mit.edu 37 9 71509280 71509280 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:71509280T>C uc004agu.2 + 8 802 c.497T>C c.(496-498)CTT>CCT p.L166P PIP5K1B_uc011lrq.1_Missense_Mutation_p.L166P|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 166 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) CCAAGGACTCTTTTGCCAAAA 0.338 NA 18 100 0 0 0.007413 0 0 TRPM6 140803 broad.mit.edu 37 9 77436681 77436681 + Missense_Mutation SNP T T G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:77436681T>G uc004ajl.1 - 8 1152 c.914A>C c.(913-915)GAG>GCG p.E305A TRPM6_uc004ajk.1_Missense_Mutation_p.E300A|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.E305A|TRPM6_uc010mpd.1_Missense_Mutation_p.E305A|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 305 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CTTGACAGTCTCCCACACTGA 0.587 NA 4 39 0 0 0.009096 0 0 VPS13A 23230 broad.mit.edu 37 9 79890421 79890422 + Nonsense_Mutation DNP GG GG CT TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:79890421_79890422GG>CT uc004akr.2 + 25 2780_2781 c.2520_2521GG>CT c.(2518-2523)GAGGAG>GACTAG p.840_841EE>D* VPS13A_uc004akp.3_Nonsense_Mutation_p.840_841EE>D*|VPS13A_uc004akq.3_Nonsense_Mutation_p.840_841EE>D*|VPS13A_uc004aks.2_Nonsense_Mutation_p.840_841EE>D* NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 840_841 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TAGATTCAGAGGAGGAATTTTT 0.312 NA 10 88 0 0 0.004672 0 0 VPS13A 23230 broad.mit.edu 37 9 79908412 79908412 + Silent SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:79908412A>G uc004akr.2 + 32 3755 c.3495A>G c.(3493-3495)CTA>CTG p.L1165L VPS13A_uc004akp.3_Silent_p.L1165L|VPS13A_uc004akq.3_Silent_p.L1165L|VPS13A_uc004aks.2_Silent_p.L1126L|VPS13A_uc010mpo.1_5'UTR NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1165 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CGAAATTTCTATATTCTATAT 0.274 NA 19 49 0 0 0.007413 0 0 FLJ46321 389763 broad.mit.edu 37 9 84606402 84606402 + Silent SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:84606402T>C uc004amn.2 + 4 1064 c.1017T>C c.(1015-1017)TCT>TCC p.S339S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 339 integral to membrane 0 CATCCACCTCTGCCCCAACAA 0.468 NA 19 107 0 0 0.006122 0 0 C9orf3 84909 broad.mit.edu 37 9 97823056 97823056 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:97823056C>A uc004ava.2 + 13 2331 c.2196C>A c.(2194-2196)CTC>CTA p.L732L C9orf3_uc004auy.2_Silent_p.L633L|C9orf3_uc004auz.1_Silent_p.L633L|C9orf3_uc004avc.2_Silent_p.L187L|C9orf3_uc011luj.1_Silent_p.L94L|C9orf3_uc011luk.1_Silent_p.L73L|C9orf3_uc004avd.2_Silent_p.L94L NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 732 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) TGCAAAGCCTCCAGAGGACAT 0.517 NA 9 36 0.000274275 0.000307338 0.004482 1 0 ASTN2 23245 broad.mit.edu 37 9 119976834 119976834 + Missense_Mutation SNP A A T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:119976834A>T uc004bjs.1 - 3 919 c.818T>A c.(817-819)CTG>CAG p.L273Q ASTN2_uc004bjr.1_Missense_Mutation_p.L273Q|ASTN2_uc004bjt.1_Missense_Mutation_p.L273Q NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 273 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GTGGGTTTGCAGCCGGGATGA 0.602 NA 6 38 0 0 0.001168 0 0 ENG 2022 broad.mit.edu 37 9 130586661 130586661 + Silent SNP C C G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:130586661C>G uc004bsj.3 - 8 1469 c.1056G>C c.(1054-1056)CCG>CCC p.P352P ENG_uc011mam.1_Silent_p.P163P|ENG_uc004bsk.3_Silent_p.P352P NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 352 Ser/Thr-rich.|Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 TGAGCAGCTCCGGGCTACAAG 0.597 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 12 37 0 0 0.001368 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670205 131670205 + Silent SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr9:131670205G>T uc004bwl.3 + 3 1016 c.762G>T c.(760-762)GTG>GTT p.V254V LRRC8A_uc010myp.2_Silent_p.V254V|LRRC8A_uc010myq.2_Silent_p.V254V NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 254 pre-B cell differentiation integral to membrane 0 GGACCCATGTGGAGGAGGGGG 0.557 NA 11 55 3.86212e-05 4.55218e-05 0.008291 1 0 ZBED1 9189 broad.mit.edu 37 X 2406876 2406877 + Missense_Mutation DNP CC CC AA TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:2406876_2406877CC>AA uc004cqg.2 - 2 2085_2086 c.1884_1885GG>TT c.(1882-1887)GTGGTC>GTTTTC p.V629F DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.V629F NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 629 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTGGCGCTGACCACGTTGGCGG 0.673 NA 34 96 0 0 0.004672 0 0 ZBED1 9189 broad.mit.edu 37 X 2407791 2407791 + Nonsense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:2407791G>A uc004cqg.2 - 2 1171 c.970C>T c.(970-972)CAG>TAG p.Q324* DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Nonsense_Mutation_p.Q324* NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 324 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACGGCAGACTGCTGGAAGTAC 0.632 NA 15 28 0 0 0.00245 0 0 ARSF 416 broad.mit.edu 37 X 3030325 3030325 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:3030325C>A uc004cre.1 + 11 1722 c.1501C>A c.(1501-1503)CAC>AAC p.H501N ARSF_uc004crf.1_Missense_Mutation_p.H501N NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 501 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTTACCTACCACAACCCCCC 0.532 NA 16 91 8.28177e-16 1.27821e-15 0.007413 1 0 SMS 6611 broad.mit.edu 37 X 22010739 22010739 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:22010739G>T uc004dag.2 + 10 1071 c.970G>T c.(970-972)GCA>TCA p.A324S SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Intron NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 324 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) TCTGACAGAAGCACTGTCGCT 0.443 NA 7 54 2.74318e-10 3.86883e-10 0.006214 1 0 FAM47A 158724 broad.mit.edu 37 X 34149722 34149722 + Missense_Mutation SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:34149722G>C uc004ddg.2 - 1 707 c.674C>G c.(673-675)CCG>CGG p.P225R NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 225 Pro-rich. p.P225P(1) ovary(4)|central_nervous_system(1) 5 AGGAGGCTCCGGGCGGAGACT 0.662 NA 7 41 0 0 0.001984 0 0 FAM47C 442444 broad.mit.edu 37 X 37028384 37028384 + Missense_Mutation SNP C C T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:37028384C>T uc004ddl.1 + 1 1915 c.1901C>T c.(1900-1902)CCT>CTT p.P634L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 634 ovary(3) 3 CGCCCAGAGCCTCCCAAGACT 0.627 NA 10 94 0 0 0.001368 0 0 SYTL5 94122 broad.mit.edu 37 X 37984682 37984682 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:37984682T>C uc004ddu.2 + 17 2507 c.1973T>C c.(1972-1974)CTA>CCA p.L658P SYTL5_uc004ddv.2_Missense_Mutation_p.L658P|SYTL5_uc004ddx.2_Missense_Mutation_p.L680P NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 658 C2 2. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 AATGTTTGCCTAGAACTTACT 0.438 NA 12 101 0 0 0.000978 0 0 TBX22 50945 broad.mit.edu 37 X 79286020 79286020 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:79286020G>T uc010nmg.1 + 9 1107 c.973G>T c.(973-975)GTG>TTG p.V325L TBX22_uc004edi.1_Missense_Mutation_p.V205L|TBX22_uc004edj.1_Missense_Mutation_p.V325L NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 325 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CTCATCTCCAGTGACCTCTAG 0.433 NA 16 67 2.32078e-09 3.15349e-09 0.003163 1 0 COL4A5 1287 broad.mit.edu 37 X 107858176 107858177 + Missense_Mutation DNP GG GG TT rs104886182 TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:107858176_107858177GG>TT uc004enz.1 + 30 2633_2634 c.2431_2432GG>TT c.(2431-2433)GGA>TTA p.G811L COL4A5_uc011mso.1_Missense_Mutation_p.G811L|COL4A5_uc004eob.1_Missense_Mutation_p.G419L NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 811 Triple-helical region. G -> V (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 TGGACCAATGGGACCTCCTGGG 0.46 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 10 30 0 0 0.004672 0 0 DOCK11 139818 broad.mit.edu 37 X 117758564 117758564 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:117758564A>G uc004eqp.2 + 32 3597 c.3534A>G c.(3532-3534)ATA>ATG p.I1178M DOCK11_uc004eqq.2_Missense_Mutation_p.I957M NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1178 blood coagulation cytosol GTP binding ovary(3) 3 TGGAAAATATACAGCGATTAG 0.338 NA 83 186 0 0 0.00361 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128975781 128975781 + Silent SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:128975781C>A uc004euv.2 - 2 510 c.141G>T c.(139-141)GGG>GGT p.G47G ZDHHC9_uc004euw.2_Silent_p.G47G|ZDHHC9_uc004eux.1_Silent_p.G47G|ZDHHC9_uc004euy.1_Intron NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 47 Helical; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 GTGTACATGTCCCCAGGATGA 0.517 NA 33 82 6.02846e-25 1.00229e-24 0.003271 1 0 MST4 51765 broad.mit.edu 37 X 131206387 131206387 + Missense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:131206387G>T uc004ewk.1 + 9 1325 c.1024G>T c.(1024-1026)GCA>TCA p.A342S MST4_uc004ewl.1_Missense_Mutation_p.A265S|MST4_uc011mux.1_Missense_Mutation_p.A364S|MST4_uc010nrj.1_Missense_Mutation_p.A342S|MST4_uc004ewm.1_Missense_Mutation_p.A280S NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 342 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) ACAGAATGGGGCAGTATGTAT 0.388 NA 17 29 3.99206e-14 6.04723e-14 0.007413 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995890 140995890 + Missense_Mutation SNP C C A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:140995890C>A uc004fbt.2 + 4 2986 c.2700C>A c.(2698-2700)AGC>AGA p.S900R MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 900 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGATAGAGAGCGAGCCCTTGT 0.473 NA HNSCC(15;0.026) 87 171 1.52795e-29 2.55073e-29 0.00361 1 0 AFF2 2334 broad.mit.edu 37 X 148038041 148038041 + Silent SNP A A C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chrX:148038041A>C uc004fcp.2 + 11 2945 c.2466A>C c.(2464-2466)GCA>GCC p.A822A AFF2_uc004fcq.2_Silent_p.A812A|AFF2_uc004fcr.2_Silent_p.A783A|AFF2_uc011mxb.1_Silent_p.A787A|AFF2_uc004fcs.2_Silent_p.A789A|AFF2_uc011mxc.1_Silent_p.A463A NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 822 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TCCATGCAGCACCTGCCAAGC 0.532 NA 7 32 0 0 0.000978 0 0 PKLR 5313 broad.mit.edu 37 1 155261655 155261655 + Frame_Shift_Del DEL G G - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr1:155261655delG uc001fkb.3 - 10 1549 c.1510delC c.(1510-1512)CGCfs p.R504fs RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Frame_Shift_Del_p.R473fs NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 504 R -> L (in PKRD; unstability of the protein). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) TGGACCTGGCGGGCAGCCTGG 0.602 NA 18 92 --- --- --- --- NA NA NA NA NA C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr10:118424338delT uc001lcr.2 - 4 450 c.395delA c.(394-396)AACfs p.N132fs C10orf82_uc001lcs.1_3'UTR NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 132 0 all cancers(201;0.0143) CTTGTAGCAGTTTTTGGCCAT 0.567 NA 8 204 --- --- --- --- NA NA NA NA NA MKRN3 7681 broad.mit.edu 37 15 23811300 23811300 + Frame_Shift_Del DEL G G - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr15:23811300delG uc001ywh.3 + 1 847 c.371delG c.(370-372)CGGfs p.R124fs MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Frame_Shift_Del_p.R124fs NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 124 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CTTTCTGGTCGGAAGATGGCC 0.602 NA 11 65 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29562721 29562721 + Frame_Shift_Del DEL G G - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:29562721delG uc002hgg.2 + 28 4134 c.3801delG c.(3799-3801)TTGfs p.L1267fs NF1_uc002hgh.2_Frame_Shift_Del_p.L1267fs|NF1_uc010csn.1_Frame_Shift_Del_p.L1127fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L300fs NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1267 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAGTAGAATTGGCAGACTCCA 0.413 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 88 321 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29679430 29679430 + Frame_Shift_Del DEL T T - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr17:29679430delT uc002hgg.2 + 51 7946 c.7613delT c.(7612-7614)CTTfs p.L2538fs NF1_uc002hgh.2_Frame_Shift_Del_p.L2517fs|NF1_uc010cso.2_Frame_Shift_Del_p.L726fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2538 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAGAAGTTGCTTGGTTAGTTT 0.363 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 26 --- --- --- --- NA NA NA NA NA GALNT14 79623 broad.mit.edu 37 2 31178519 31178519 + Frame_Shift_Del DEL C C - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr2:31178519delC uc002rnr.2 - 6 1238 c.619delG c.(619-621)GACfs p.D207fs GALNT14_uc002rnq.2_Frame_Shift_Del_p.D187fs|GALNT14_uc002rns.2_Frame_Shift_Del_p.D212fs|GALNT14_uc010ymr.1_Frame_Shift_Del_p.D172fs|GALNT14_uc010ezo.1_Frame_Shift_Del_p.D174fs|GALNT14_uc010ezp.1_Frame_Shift_Del_p.D178fs NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 207 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TGGAGCCAGTCCCTGTTCACC 0.632 NA 18 43 --- --- --- --- NA NA NA NA NA ARHGEF38 54848 broad.mit.edu 37 4 106534548 106534549 + Frame_Shift_Ins INS - - TATC TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr4:106534548_106534549insTATC uc003hxu.2 + 3 538_539 c.392_393insTATC c.(391-393)AGGfs p.R131fs NM_017700 NP_060170 Q9NXL2 ARH38_HUMAN hypothetical protein LOC54848 131 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|breast(1) 3 CAGACTGATAGGCTGGATGTGG 0.441 NA 15 221 --- --- --- --- NA NA NA NA NA ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 GGT GGT - - GGT GGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr5:32419951_32419953delGGT uc003jhr.1 - 3 473_475 c.393_395delACC c.(391-396)CCACCC>CCC p.131_132PP>P ZFR_uc010iun.1_In_Frame_Del_p.131_132PP>P NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131_132 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 NA 7 498 --- --- --- --- NA NA NA NA NA PTPRZ1 5803 broad.mit.edu 37 7 121651908 121651909 + Frame_Shift_Ins INS - - T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 10e03053-f6e3-42b7-8638-ce58c6e7dfaa acd8a6fc-5145-499f-9d88-9bd6082a0d9b g.chr7:121651908_121651909insT uc003vjy.2 + 12 3203_3204 c.2808_2809insT c.(2806-2811)TCCCAAfs p.S936fs PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 936_937 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ATGAGGGCTCCCAACACATCTT 0.455 NA 22 106 --- --- --- --- NA NA NA NA NA