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 PTCHD2 57540 broad.mit.edu 37 1 11561291 11561291 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:11561291G>A uc001ash.3 + 2 380 c.242G>A c.(241-243)GGC>GAC p.G81D PTCHD2_uc001asi.1_Missense_Mutation_p.G81D NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 81 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTCTTCCTGGGCTGCAGCATC 0.612 NA 11 69 0 0 0.001368 0 0 VPS13D 55187 broad.mit.edu 37 1 12364726 12364726 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:12364726C>T uc001atv.2 + 26 6521 c.6380C>T c.(6379-6381)TCC>TTC p.S2127F VPS13D_uc001atw.2_Missense_Mutation_p.S2127F|VPS13D_uc001atx.2_Missense_Mutation_p.S1315F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2127 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCCAGTACCTCCACCAAGCAG 0.547 NA 6 46 0 0 0.001984 0 0 PUM1 9698 broad.mit.edu 37 1 31532134 31532134 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:31532134C>A uc001bsi.1 - 2 393 c.280G>T c.(280-282)GGG>TGG p.G94W PUM1_uc001bsh.1_Missense_Mutation_p.G94W|PUM1_uc001bsj.1_Missense_Mutation_p.G94W|PUM1_uc010oga.1_Missense_Mutation_p.G94W|PUM1_uc001bsk.1_Missense_Mutation_p.G130W|PUM1_uc010ogb.1_Missense_Mutation_p.G130W NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 94 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CCTCCTCCCCCAAGCTGCTCA 0.507 NA 16 43 7.07596e-05 8.44318e-05 0.006122 1 0 NFYC 4802 broad.mit.edu 37 1 41215346 41215346 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:41215346C>T uc001cge.2 + 3 287 c.279C>T c.(277-279)CGC>CGT p.R93R NFYC_uc010ojm.1_Intron|NFYC_uc001cfx.3_Silent_p.R93R|NFYC_uc009vwd.2_Silent_p.R93R|NFYC_uc001cfz.2_Silent_p.R93R|NFYC_uc010ojn.1_Intron|NFYC_uc001cfy.3_Silent_p.R93R|NFYC_uc001cgc.2_Silent_p.R93R|NFYC_uc001cgb.2_Silent_p.R93R|NFYC_uc001cgd.3_Silent_p.R93R NM_001142588 NP_001136060 Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma isoform 1 93 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|kidney(1) 3 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) ATAACAAGCGCCGGACTCTAC 0.473 NA 32 55 0 0 0.001786 0 0 PLK3 1263 broad.mit.edu 37 1 45270044 45270044 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:45270044A>T uc001cmn.2 + 12 1476 c.1376A>T c.(1375-1377)GAG>GTG p.E459V PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 459 membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) GCCCAGCCAGAGCCTCTGGTG 0.617 NA 33 115 0 0 0.003271 0 0 INADL 10207 broad.mit.edu 37 1 62367102 62367102 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:62367102G>A uc001dab.2 + 24 3466 c.3352G>A c.(3352-3354)GCA>ACA p.A1118T INADL_uc009waf.1_Missense_Mutation_p.A1118T|INADL_uc001daa.2_Missense_Mutation_p.A1118T|INADL_uc001dad.3_Missense_Mutation_p.A815T|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1118 PDZ 6. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GAAGACGAACGCACTTAAAAC 0.343 NA 4 20 0 0 0.000248 0 0 BCL10 8915 broad.mit.edu 37 1 85733446 85733446 + Nonsense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:85733446G>C uc001dkz.2 - 4 1271 c.566C>G c.(565-567)TCA>TGA p.S189* NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 189 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) AAGTGTAGTTGAAGAGAAGAT 0.453 NSCLC(34;993 1034 12176 32621 50182) NA T IGH@ MALT 8 26 0 0 0.00308 0 0 CLCA4 22802 broad.mit.edu 37 1 87041018 87041018 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:87041018G>T uc009wcs.2 + 11 1731 c.1687G>T c.(1687-1689)GGC>TGC p.G563C CLCA4_uc009wct.2_Missense_Mutation_p.G326C|CLCA4_uc009wcu.2_Missense_Mutation_p.G383C NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 563 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CTTTTAGGTGGGCACTTGGGC 0.353 NA 7 30 1.26484e-09 1.66751e-09 0.00308 1 0 DPYD 1806 broad.mit.edu 37 1 98187218 98187218 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:98187218C>T uc001drv.2 - 5 468 c.331G>A c.(331-333)GGA>AGA p.G111R DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G111R NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 111 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTAGCAGCTCCATAATAGTTC 0.318 NA 5 26 0 0 0.000602 0 0 PALMD 54873 broad.mit.edu 37 1 100152304 100152304 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:100152304G>C uc001dsg.2 + 4 767 c.324G>C c.(322-324)AAG>AAC p.K108N PALMD_uc001dsf.2_Missense_Mutation_p.K108N NM_017734 NP_060204 Q9NP74 PALMD_HUMAN palmdelphin 108 regulation of cell shape cytoplasm|membrane ovary(2)|pancreas(1) 3 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CCATTTTAAAGAAACTAAAGT 0.333 NA 3 76 0 0 0.004672 0 0 MYBPHL 343263 broad.mit.edu 37 1 109839703 109839703 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:109839703T>A uc001dxk.1 - 4 589 c.539A>T c.(538-540)TAC>TTC p.Y180F MYBPHL_uc010ovh.1_Missense_Mutation_p.Y157F|MYBPHL_uc001dxl.2_Intron NM_001010985 NP_001010985 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 180 Fibronectin type-III. ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) CTGCACCGTGTATCCCAGAAG 0.577 NA 27 104 0 0 0.005443 0 0 RBM15 64783 broad.mit.edu 37 1 110882411 110882411 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:110882411C>T uc001dzl.1 + 1 467 c.384C>T c.(382-384)TCC>TCT p.S128S RBM15_uc001dzm.1_Silent_p.S128S|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 128 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GTTATAGCTCCCCGAGCACCA 0.657 NA T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 20 0 0 0.004672 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858580 149858580 + Nonsense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:149858580C>A uc001etd.2 + 1 56 c.56C>A c.(55-57)TCG>TAG p.S19* HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 19 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AAGTCGCGCTCGTCCCGCGCT 0.637 NA 7 168 1.76689e-08 2.28657e-08 0.006214 1 0 CRNN 49860 broad.mit.edu 37 1 152382721 152382721 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:152382721G>A uc001ezx.2 - 3 911 c.837C>T c.(835-837)AGC>AGT p.S279S NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 279 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCACAGCCTGGCTGGTCTGGC 0.607 NA 55 437 0 0 0.00361 0 0 INSRR 3645 broad.mit.edu 37 1 156821927 156821927 + Missense_Mutation SNP C C T rs140347940 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:156821927C>T uc010pht.1 - 3 948 c.694G>A c.(694-696)GAA>AAA p.E232K NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.E232K NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 232 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCAGGCATTCGGTGTGGCAG 0.672 NA 8 54 0 0 0.00308 0 0 NTRK1 4914 broad.mit.edu 37 1 156834552 156834552 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:156834552C>T uc001fqh.1 + 3 376 c.320C>T c.(319-321)GCG>GTG p.A107V NTRK1_uc001fqf.1_Missense_Mutation_p.A77V|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.A107V|NTRK1_uc009wsk.1_Missense_Mutation_p.A107V NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 107 LRR 1.|Extracellular (Potential). A -> V (in an ovarian serous carcinoma sample; somatic mutation). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A107V(1) lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CGTTTCGTGGCGCCAGATGCC 0.637 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 5 67 0 0 0.000602 0 0 OR6K3 391114 broad.mit.edu 37 1 158687287 158687287 + Missense_Mutation SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:158687287T>C uc010pip.1 - 1 667 c.667A>G c.(667-669)ATC>GTC p.I223V NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 223 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AAGGTAATGATGATGGTCACA 0.448 NA 15 120 0 0 0.003163 0 0 NR1I3 9970 broad.mit.edu 37 1 161202597 161202597 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:161202597C>T uc001fzx.2 - 5 751 c.548G>A c.(547-549)CGT>CAT p.R183H TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R183H|NR1I3_uc001fzg.2_Missense_Mutation_p.R154H|NR1I3_uc001fzh.2_Missense_Mutation_p.R154H|NR1I3_uc001fzi.2_Missense_Mutation_p.R154H|NR1I3_uc001fzj.2_Missense_Mutation_p.R154H|NR1I3_uc001fzk.2_Missense_Mutation_p.R154H|NR1I3_uc001fzl.2_Missense_Mutation_p.R154H|NR1I3_uc001fzm.2_Missense_Mutation_p.R108H|NR1I3_uc001fzn.2_Missense_Mutation_p.R16H|NR1I3_uc009wug.2_Missense_Mutation_p.R16H|NR1I3_uc001fzp.2_Missense_Mutation_p.R183H|NR1I3_uc001fzo.2_Missense_Mutation_p.R16H|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Missense_Mutation_p.R16H|NR1I3_uc001fzt.2_Missense_Mutation_p.R16H|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R183H|NR1I3_uc001fzy.2_Missense_Mutation_p.R183H|NR1I3_uc001fzz.2_Missense_Mutation_p.R183H|NR1I3_uc001gaa.2_Missense_Mutation_p.R183H|NR1I3_uc001gab.2_Missense_Mutation_p.R183H|NR1I3_uc001gac.2_Missense_Mutation_p.R154H|NR1I3_uc010pkm.1_Missense_Mutation_p.R154H|NR1I3_uc010pkn.1_Missense_Mutation_p.R183H NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 183 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GGTCACTCACCGGAAGACGGG 0.493 NA 11 121 0 0 0.008291 0 0 FMO1 2326 broad.mit.edu 37 1 171254448 171254448 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:171254448C>T uc009wvz.2 + 9 1500 c.1364C>T c.(1363-1365)ACG>ATG p.T455M FMO1_uc010pme.1_Missense_Mutation_p.T392M|FMO1_uc001ghl.2_Missense_Mutation_p.T455M|FMO1_uc001ghm.2_Missense_Mutation_p.T455M|FMO1_uc001ghn.2_3'UTR NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 455 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGCTCCTAACGGATCCACAT 0.468 NA 9 88 0 0 0.004482 0 0 ASPM 259266 broad.mit.edu 37 1 197112506 197112506 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:197112506C>T uc001gtu.2 - 3 1133 c.876G>A c.(874-876)GAG>GAA p.E292E ASPM_uc001gtv.2_Silent_p.E292E|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 292 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GTTTACTATTCTCTCCTCTTT 0.328 NA 4 86 0 0 0.000248 0 0 LHX9 56956 broad.mit.edu 37 1 197886998 197886998 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:197886998C>T uc001guk.1 + 1 482 c.45C>T c.(43-45)TTC>TTT p.F15F LHX9_uc009wzc.1_Intron|LHX9_uc001gui.1_Intron|LHX9_uc001guj.1_Intron NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 15 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CGTGTCCTTTCCGCCCCCCAG 0.592 NA 6 155 0 0 0.001168 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200819231 200819231 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:200819231C>G uc001gvl.2 + 12 3637 c.3367C>G c.(3367-3369)CTG>GTG p.L1123V CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.L1112V|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.L1096V NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1123 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 AAATGTTAATCTGATTGAAGT 0.408 NA 8 142 0 0 0.006214 0 0 LAX1 54900 broad.mit.edu 37 1 203743399 203743399 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:203743399C>G uc001haa.2 + 5 1197 c.787C>G c.(787-789)CAG>GAG p.Q263E LAX1_uc010pql.1_Missense_Mutation_p.Q247E|LAX1_uc001hab.2_Missense_Mutation_p.Q187E NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 263 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) AGGTTCTTCTCAGATCTCAAA 0.488 NA 3 46 0 0 0.004672 0 0 NUAK2 81788 broad.mit.edu 37 1 205290688 205290688 + Silent SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:205290688C>A uc001hce.2 - 1 196 c.69G>T c.(67-69)CTG>CTT p.L23L NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 23 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GCCCTTCCGCCAGCGGCCGGG 0.682 NA 8 52 0.00307968 0.00346341 0.00308 1 0 ESRRG 2104 broad.mit.edu 37 1 216850650 216850650 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:216850650G>A uc001hkw.1 - 2 406 c.240C>T c.(238-240)GAC>GAT p.D80D ESRRG_uc001hky.1_Silent_p.D57D|ESRRG_uc009xdp.1_Silent_p.D57D|ESRRG_uc001hkz.1_Silent_p.D57D|ESRRG_uc010puc.1_Silent_p.D57D|ESRRG_uc001hla.1_Silent_p.D57D|ESRRG_uc001hlb.1_Silent_p.D57D|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.D57D|ESRRG_uc001hld.1_Silent_p.D57D|ESRRG_uc001hkx.1_Silent_p.D85D|ESRRG_uc009xdo.1_Silent_p.D57D|ESRRG_uc001hle.1_Silent_p.D57D NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 80 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GAGGTGGCGAGTCAAGTCCGT 0.562 NA 22 83 0 0 0.001523 0 0 OBSCN 84033 broad.mit.edu 37 1 228432127 228432127 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:228432127G>C uc009xez.1 + 11 3380 c.3336G>C c.(3334-3336)AAG>AAC p.K1112N OBSCN_uc001hsn.2_Missense_Mutation_p.K1112N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1112 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGATGGGAAGAAGCTGAGCT 0.617 NA 12 132 0 0 0.000978 0 0 OBSCN 84033 broad.mit.edu 37 1 228495874 228495874 + Nonsense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:228495874G>T uc009xez.1 + 47 12573 c.12529G>T c.(12529-12531)GAG>TAG p.E4177* OBSCN_uc001hsn.2_Nonsense_Mutation_p.E4177* NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4177 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGAGGATGTTGAGTTCAGCTG 0.612 NA 33 45 9.17885e-22 1.3134e-21 0.003271 1 0 DISC1 27185 broad.mit.edu 37 1 231829772 231829772 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:231829772T>A uc001huz.2 + 2 321 c.268T>A c.(268-270)TCG>ACG p.S90T TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.S45T|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.S79T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.S90T|DISC1_uc010pwp.1_Missense_Mutation_p.S90T|DISC1_uc010pwq.1_Missense_Mutation_p.S90T|DISC1_uc010pwr.1_Missense_Mutation_p.S90T|DISC1_uc010pws.1_Missense_Mutation_p.S90T|DISC1_uc010pwt.1_Missense_Mutation_p.S90T|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.S90T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.S90T|DISC1_uc010pxb.1_Missense_Mutation_p.S90T|DISC1_uc010pxc.1_Missense_Mutation_p.S90T|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.S90T|DISC1_uc009xfr.2_Missense_Mutation_p.S45T|DISC1_uc010pxf.1_Missense_Mutation_p.S90T|DISC1_uc010pxg.1_Missense_Mutation_p.S90T|DISC1_uc010pxh.1_Missense_Mutation_p.S90T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S90T|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.S90T|DISC1_uc010pwm.1_Missense_Mutation_p.S90T|DISC1_uc001hux.1_Missense_Mutation_p.S90T|DISC1_uc001hvc.3_Missense_Mutation_p.S90T|DISC1_uc010pwn.1_Missense_Mutation_p.S90T NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 90 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding p.S90S(1) skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) TGGCCTTGACTCGAGAGGCCT 0.622 NA 7 33 0 0 0.00308 0 0 ZNF496 84838 broad.mit.edu 37 1 247492647 247492647 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:247492647C>T uc001ico.2 - 3 699 c.234G>A c.(232-234)AAG>AAA p.K78K ZNF496_uc009xgv.2_Silent_p.K78K|ZNF496_uc001icp.2_Silent_p.K78K|ZNF496_uc010pyv.1_Silent_p.K78K NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 78 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GAATCTGCTCCTTGGTGTGCC 0.711 NA 11 91 0 0 0.008291 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256429 15256429 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:15256429C>T uc001iob.2 - 8 1165 c.1158G>A c.(1156-1158)GAG>GAA p.E386E NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 386 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 TGCCGGGGGCCTCGGGGCGGC 0.607 NA 9 38 0 0 0.004482 0 0 ZEB1 6935 broad.mit.edu 37 10 31815845 31815845 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:31815845C>A uc001ivs.3 + 9 3091 c.3028C>A c.(3028-3030)CAC>AAC p.H1010N ZEB1_uc001ivr.3_Missense_Mutation_p.H792N|ZEB1_uc010qee.1_Missense_Mutation_p.H792N|ZEB1_uc010qef.1_Missense_Mutation_p.H792N|ZEB1_uc001ivt.3_Missense_Mutation_p.H792N|ZEB1_uc001ivu.3_Missense_Mutation_p.H1011N|ZEB1_uc001ivv.3_Missense_Mutation_p.H990N|ZEB1_uc010qeh.1_Missense_Mutation_p.H943N|ZEB1_uc009xlp.2_Missense_Mutation_p.H994N NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 1010 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CTCGAATGAGCACGTGGGTGC 0.488 Ovarian(40;423 959 14296 36701 49589) NA 10 28 0.000442599 0.000515877 0.006214 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37451585 37451585 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:37451585G>T uc001iza.1 + 16 1840 c.1741G>T c.(1741-1743)GGG>TGG p.G581W NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 637 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AGAGCCTCCGGGGAAGCCATC 0.318 NA 16 65 6.94344e-10 9.29313e-10 0.006122 1 0 NODAL 4838 broad.mit.edu 37 10 72195563 72195563 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:72195563C>T uc001jrc.2 - 2 412 c.370G>A c.(370-372)GCT>ACT p.A124T NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 124 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 CTGTCTGAAGCCTGCTCTGTG 0.567 NA 16 49 0 0 0.00499 0 0 PIPSL 266971 broad.mit.edu 37 10 95720287 95720287 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:95720287G>A uc009xuj.2 - 1 1386 c.867C>T c.(865-867)AGC>AGT p.S289S NR_002319 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 ATTGTGTTTCGCTGCTTAAGG 0.488 NA 6 55 0 0 0.001984 0 0 NFKB2 4791 broad.mit.edu 37 10 104161068 104161068 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:104161068G>A uc001kvb.2 + 19 2468 c.2203G>A c.(2203-2205)GAC>AAC p.D735N NFKB2_uc001kva.2_Missense_Mutation_p.D735N|NFKB2_uc001kvd.2_Missense_Mutation_p.D735N|NFKB2_uc009xxc.2_Missense_Mutation_p.D735N NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 735 ANK 7. Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CACGCCTCTTGACCTCACTTG 0.597 NA T IGH@ B-NHL 10 59 0 0 0.008291 0 0 EIF3A 8661 broad.mit.edu 37 10 120802184 120802184 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:120802184G>A uc001ldu.2 - 19 2994 c.2848C>T c.(2848-2850)CTT>TTT p.L950F EIF3A_uc010qsu.1_Missense_Mutation_p.L916F|EIF3A_uc009xzg.1_5'UTR NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 950 3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCTGGTCTAAGAGAGGGCTCT 0.582 NA 23 135 0 0 0.001882 0 0 MMP21 118856 broad.mit.edu 37 10 127461230 127461230 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:127461230C>T uc001liu.2 - 3 787 c.787G>A c.(787-789)GAC>AAC p.D263N NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 263 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAGTGCTCGTCGTCGTCAAAG 0.622 NA 10 50 0 0 0.008291 0 0 Unknown 0 broad.mit.edu 37 10 134648863 134648863 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr10:134648863C>T uc010qux.1 - 39 5867 c.5867G>A c.(5866-5868)CGG>CAG p.R1956Q NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. NA GGTCTGCTTCCGGAACTGCTG 0.637 NA 7 62 0 0 0.001984 0 0 IRF7 3665 broad.mit.edu 37 11 612770 612770 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:612770C>G uc001lqh.2 - 11 1757 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q IRF7_uc009ycb.2_Missense_Mutation_p.E357Q|IRF7_uc010qwf.1_Missense_Mutation_p.E462Q|IRF7_uc001lqf.2_Missense_Mutation_p.E170Q|IRF7_uc010qwg.1_Missense_Mutation_p.E170Q|IRF7_uc001lqg.2_Missense_Mutation_p.E476Q|IRF7_uc001lqi.2_Missense_Mutation_p.E434Q|IRF7_uc010qwh.1_Missense_Mutation_p.E170Q NM_001572 NP_001563 Q92985 IRF7_HUMAN interferon regulatory factor 7 isoform a 463 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCGTGCCCTCTAGGTGCACT 0.647 NA 3 40 0 0 0.004672 0 0 RRP8 23378 broad.mit.edu 37 11 6622800 6622800 + Missense_Mutation SNP C C T rs142207265 by1000genomes TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:6622800C>T uc001med.2 - 3 575 c.496G>A c.(496-498)GAT>AAT p.D166N ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 166 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 TTTGGTGGATCATTTGTAGTA 0.512 NA 6 78 0 0 0.001168 0 0 EIF4G2 1982 broad.mit.edu 37 11 10822547 10822547 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:10822547C>T uc001mjc.2 - 15 1918 c.1501G>A c.(1501-1503)GCA>ACA p.A501T EIF4G2_uc001mjb.2_Missense_Mutation_p.A295T|EIF4G2_uc009ygf.2_Missense_Mutation_p.A295T|EIF4G2_uc001mjd.2_Missense_Mutation_p.A463T|EIF4G2_uc001mjf.1_Missense_Mutation_p.A257T NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 501 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GGTGGTTGTGCACTAGGAGGA 0.418 NA 8 63 0 0 0.004482 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955453 18955453 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:18955453C>A uc001mpg.2 - 1 1097 c.879G>T c.(877-879)AGG>AGT p.R293S NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 293 Cytoplasmic (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 CCTGCAGAGCCCTCTGGAGAA 0.552 NA 12 66 1.08611e-07 1.38518e-07 0.000978 1 0 MPPED2 744 broad.mit.edu 37 11 30557637 30557637 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:30557637C>A uc001msr.2 - 2 334 c.214G>T c.(214-216)GGT>TGT p.G72C MPPED2_uc001msq.3_Missense_Mutation_p.G72C|MPPED2_uc009yji.2_5'UTR NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 72 nervous system development hydrolase activity|metal ion binding skin(1) 1 ATCTGGATACCATCTGTTCTG 0.502 NA 13 21 4.3838e-07 5.57075e-07 0.001855 1 0 RAG1 5896 broad.mit.edu 37 11 36596541 36596541 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:36596541G>T uc001mwu.3 + 2 1811 c.1687G>T c.(1687-1689)GAT>TAT p.D563Y RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 563 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GTTCCGCTATGATTCAGCTTT 0.473 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 8 42 0.00621372 0.00694358 0.006214 1 0 GYLTL1B 120071 broad.mit.edu 37 11 45949867 45949867 + Missense_Mutation SNP C C T rs150478912 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:45949867C>T uc001nbv.1 + 13 2005 c.1894C>T c.(1894-1896)CGC>TGC p.R632C GYLTL1B_uc001nbw.1_Missense_Mutation_p.R601C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R632C|GYLTL1B_uc001nby.1_Missense_Mutation_p.R315C|GYLTL1B_uc001nbz.1_Intron NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 632 Lumenal (Potential). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.226) CTATGATCCTCGCTTTGTGGG 0.567 NA 18 153 0 0 0.007413 0 0 LRP4 4038 broad.mit.edu 37 11 46911554 46911554 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:46911554C>T uc001ndn.3 - 15 2179 c.2033G>A c.(2032-2034)CGC>CAC p.R678H NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 678 Extracellular (Potential).|LDL-receptor class B 5. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GAGTTTGTTGCGAATGATTTC 0.517 NA OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 82 0 0 0.001855 0 0 MADD 8567 broad.mit.edu 37 11 47306564 47306564 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:47306564C>T uc001ner.1 + 13 2421 c.2230C>T c.(2230-2232)CCC>TCC p.P744S MADD_uc001neq.2_Missense_Mutation_p.P744S|MADD_uc001nev.1_Missense_Mutation_p.P744S|MADD_uc001nes.1_Missense_Mutation_p.P744S|MADD_uc001net.1_Missense_Mutation_p.P744S|MADD_uc009yln.1_Missense_Mutation_p.P744S|MADD_uc001neu.1_Missense_Mutation_p.P744S|MADD_uc001nex.2_Missense_Mutation_p.P744S|MADD_uc001nez.2_Missense_Mutation_p.P744S|MADD_uc001new.2_Missense_Mutation_p.P744S NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 744 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity p.P744L(1) ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TTCCGTGCCTCCCAGCATTGG 0.532 NA 14 63 0 0 0.001855 0 0 MTCH2 23788 broad.mit.edu 37 11 47653245 47653245 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:47653245C>A uc010rho.1 - 6 577 c.388G>T c.(388-390)GCT>TCT p.A130S MTCH2_uc001nge.2_Missense_Mutation_p.A3S|MTCH2_uc010rhp.1_Intron NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 130 Solcar 2. transport integral to membrane|mitochondrial inner membrane 0 GCAGAACGAGCGATCATCTCT 0.428 NA 11 51 6.40141e-05 7.66427e-05 0.000978 1 0 FOLH1 2346 broad.mit.edu 37 11 49196483 49196483 + Missense_Mutation SNP A A C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:49196483A>C uc001ngy.2 - 9 1327 c.1066T>G c.(1066-1068)TAC>GAC p.Y356D FOLH1_uc001ngz.2_Missense_Mutation_p.Y356D|FOLH1_uc009yly.2_Missense_Mutation_p.Y341D|FOLH1_uc009ylz.2_Missense_Mutation_p.Y341D|FOLH1_uc009yma.2_Missense_Mutation_p.Y48D NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 356 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATCACATTGTAAATTCTTGTC 0.254 NA 7 39 0 0 0.00308 0 0 OR4A15 81328 broad.mit.edu 37 11 55136241 55136241 + Silent SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:55136241C>A uc010rif.1 + 1 882 c.882C>A c.(880-882)CCC>CCA p.P294P NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 294 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTACTTTTCCCATTGATAAAT 0.403 NA 38 135 1.07637e-12 1.47424e-12 0.004878 1 0 SLC43A1 8501 broad.mit.edu 37 11 57261530 57261530 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:57261530C>G uc001nkk.2 - 8 925 c.807G>C c.(805-807)GAG>GAC p.E269D SLC43A1_uc001nkl.2_Missense_Mutation_p.E269D NM_003627 NP_003618 O75387 LAT3_HUMAN solute carrier family 43, member 1 269 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity 0 CCGAACCGTCCTCCAGGCTGG 0.607 NA OREG0020651 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0 0 0.00308 0 0 ZBTB3 79842 broad.mit.edu 37 11 62521022 62521022 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:62521022G>C uc001nuz.2 - 2 387 c.265C>G c.(265-267)CGG>GGG p.R89G NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 89 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 AGCACAGCCCGATGGGCCAAG 0.557 NA 3 40 0 0 0.004672 0 0 C11orf84 144097 broad.mit.edu 37 11 63585711 63585711 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:63585711G>A uc001nxt.2 + 3 717 c.481G>A c.(481-483)GAC>AAC p.D161N NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 161 Pro-rich. 0 TGCCCACCCAGACCCAGACGC 0.602 NA 10 87 0 0 0.006214 0 0 DDI1 414301 broad.mit.edu 37 11 103908471 103908471 + Silent SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:103908471T>A uc001phr.2 + 1 1164 c.921T>A c.(919-921)ATT>ATA p.I307I PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 307 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) TAGCTCAGATTCAAATTGAAG 0.473 NA 8 41 0 0 0.004482 0 0 KBTBD3 143879 broad.mit.edu 37 11 105925172 105925172 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:105925172C>T uc001pja.2 - 4 884 c.244G>A c.(244-246)GAA>AAA p.E82K KBTBD3_uc001pjb.2_Missense_Mutation_p.E82K|KBTBD3_uc009yxm.2_Missense_Mutation_p.E3K NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 78 BTB. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ATGTTTACTTCAAACATAGCC 0.318 NA 4 13 0 0 0.000248 0 0 USP28 57646 broad.mit.edu 37 11 113679033 113679033 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:113679033G>A uc001poh.2 - 18 2324 c.2291C>T c.(2290-2292)GCG>GTG p.A764V USP28_uc001pog.2_Missense_Mutation_p.A472V|USP28_uc010rwy.1_Missense_Mutation_p.A639V|USP28_uc001poi.2_Missense_Mutation_p.A119V NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 764 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACTCAGTGCCGCTTCTACACC 0.517 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 28 104 0 0 0.008361 0 0 SIDT2 51092 broad.mit.edu 37 11 117062658 117062658 + Silent SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:117062658G>C uc001pqh.1 + 19 1841 c.1800G>C c.(1798-1800)CCG>CCC p.P600P SIDT2_uc010rxe.1_Silent_p.P600P|SIDT2_uc001pqg.2_Silent_p.P621P|SIDT2_uc001pqi.1_Silent_p.P597P|SIDT2_uc001pqj.1_5'Flank NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 600 Extracellular (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) AGCGGCACCCGGACATCAACG 0.587 NA 6 75 0 0 0.001984 0 0 ASAM 79827 broad.mit.edu 37 11 122944421 122944421 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:122944421G>A uc001pyt.2 - 7 1242 c.883C>T c.(883-885)CGG>TGG p.R295W NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 295 Ser-rich.|Cytoplasmic (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) CGTGAGCTCCGAGAGCCTGAG 0.547 NA 10 73 0 0 0.006214 0 0 OR6T1 219874 broad.mit.edu 37 11 123813876 123813876 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:123813876T>A uc010sab.1 - 1 670 c.670A>T c.(670-672)ACT>TCT p.T224S NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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;0.0401) CTGAGAACAGTGGCAAGAATG 0.532 NA 6 32 0 0 0.001168 0 0 OR10G7 390265 broad.mit.edu 37 11 123909323 123909323 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:123909323A>T uc001pzq.1 - 1 386 c.386T>A c.(385-387)CTC>CAC p.L129H NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;0.0521) GGTGTACCTGAGCGGGTAACT 0.557 NA 24 106 0 0 0.00333 0 0 OR8D1 283159 broad.mit.edu 37 11 124180000 124180000 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:124180000G>C uc010sag.1 - 1 663 c.663C>G c.(661-663)ATC>ATG p.I221M NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TGCTGTAGAGGATGAAGGCAT 0.512 NA 8 20 0 0 0.004482 0 0 PRMT8 56341 broad.mit.edu 37 12 3701483 3701483 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:3701483G>T uc001qmf.2 + 9 1433 c.1066G>T c.(1066-1068)GGG>TGG p.G356W PRMT8_uc009zed.2_Missense_Mutation_p.G347W|PRMT8_uc001qmg.2_Missense_Mutation_p.G170W|PRMT8_uc001qmh.2_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 356 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GGAAATCTACGGGACCATATC 0.557 NA 24 48 2.70639e-06 3.3544e-06 0.002299 1 0 KCNA6 3742 broad.mit.edu 37 12 4919377 4919377 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:4919377G>A uc001qng.2 + 1 1036 c.170G>A c.(169-171)CGC>CAC p.R57H NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 57 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 ACACAATTGCGCACCCTGTCG 0.652 NA HNSCC(72;0.22) 5 27 0 0 0.000602 0 0 KCNA1 3736 broad.mit.edu 37 12 5021642 5021642 + Silent SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:5021642G>T uc001qnh.2 + 2 2203 c.1098G>T c.(1096-1098)GCG>GCT p.A366A NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 366 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTGGTGGGCGGTGGTGTCCA 0.537 NA 37 114 4.62619e-21 6.59279e-21 0.004289 1 0 ETNK1 55500 broad.mit.edu 37 12 22813996 22813997 + Splice_Site DNP GG GG TT TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:22813996_22813997GG>TT uc001rft.2 + 4 847 c.825_splice c.e4-1 p.R275_splice ETNK1_uc009ziz.2_Splice_Site_p.R275_splice NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 AAAACTAAAAGGTTCCTAAGTG 0.351 Esophageal Squamous(42;87 913 3224 6226 43339) NA 13 19 0 0 0.004672 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:25398285C>T uc001rgp.1 - 2 215 c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 10 0 0 0.00308 0 0 KIF21A 55605 broad.mit.edu 37 12 39763916 39763916 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:39763916G>A uc001rly.2 - 2 338 c.192C>T c.(190-192)ATC>ATT p.I64I KIF21A_uc001rlx.2_Silent_p.I64I|KIF21A_uc001rlz.2_Silent_p.I64I|KIF21A_uc010skl.1_Silent_p.I64I|KIF21A_uc001rma.1_Silent_p.I64I NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 64 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) ATTGAATGTAGATCTGCTCTT 0.378 NA 10 51 0 0 0.006214 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43825133 43825133 + Splice_Site SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:43825133A>T uc010skx.1 - 22 3261 c.3261_splice c.e22+1 p.P1087_splice ADAMTS20_uc001rno.1_Splice_Site_p.P241_splice|ADAMTS20_uc001rnp.1_Splice_Site_p.P241_splice NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCATATACTCACAGGACCCCA 0.388 NA 12 48 0 0 0.001855 0 0 KRT80 144501 broad.mit.edu 37 12 52567495 52567495 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:52567495C>T uc001rzx.2 - 5 818 c.720G>A c.(718-720)ATG>ATA p.M240I KRT80_uc001rzw.2_Missense_Mutation_p.M275I|KRT80_uc001rzy.2_Missense_Mutation_p.M240I NM_182507 NP_872313 Q6KB66 K2C80_HUMAN keratin 80 isoform a 240 Linker 12.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.108) AGCGGCTGTCCATGCCGACGG 0.662 GBM(178;2309 2916 15678 35873) NA 7 52 0 0 0.001984 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54678090 54678090 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:54678090G>C uc001sfl.2 + 10 1216 c.1112G>C c.(1111-1113)AGA>ACA p.R371T HNRNPA1_uc001sfm.2_Missense_Mutation_p.R319T|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Missense_Mutation_p.R319T|HNRNPA1_uc009zni.2_Missense_Mutation_p.R306T|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R266T|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc009znj.1_Missense_Mutation_p.R274T NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 371 Gly-rich. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 AGTGGCAGAAGATTTTAATTA 0.378 Colon(83;502 1289 8436 16406 24870) NA 9 21 0 0 0.008291 0 0 DGKA 1606 broad.mit.edu 37 12 56333946 56333946 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:56333946G>T uc001sij.2 + 10 1054 c.790G>T c.(790-792)GAC>TAC p.D264Y DGKA_uc009zoc.1_Missense_Mutation_p.D264Y|DGKA_uc001sih.1_Missense_Mutation_p.D152Y|DGKA_uc001sii.1_Missense_Mutation_p.D122Y|DGKA_uc009zod.1_Missense_Mutation_p.D183Y|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Missense_Mutation_p.D264Y|DGKA_uc001sil.2_Missense_Mutation_p.D264Y|DGKA_uc001sim.2_Missense_Mutation_p.D264Y|DGKA_uc001sin.2_Missense_Mutation_p.D264Y|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.R6S NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 264 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) GTCTCGGAAGGACATTGGTGT 0.572 NA OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 60 2.48551e-13 3.44448e-13 0.00499 1 0 NAV3 89795 broad.mit.edu 37 12 78515721 78515721 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:78515721T>A uc001syp.2 + 16 3924 c.3751T>A c.(3751-3753)TTG>ATG p.L1251M NAV3_uc001syo.2_Missense_Mutation_p.L1251M|NAV3_uc010sub.1_Missense_Mutation_p.L751M|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1251 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTCTTTTAGGTTGTTTGGTGC 0.433 NA HNSCC(70;0.22) 3 21 0 0 0.004672 0 0 DCN 1634 broad.mit.edu 37 12 91572199 91572199 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:91572199C>T uc001tbs.2 - 1 225 c.131G>A c.(130-132)CGC>CAC p.R44H DCN_uc001tbo.2_Missense_Mutation_p.R44H|DCN_uc001tbp.2_Missense_Mutation_p.R44H|DCN_uc001tbq.2_Missense_Mutation_p.R44H|DCN_uc001tbr.2_Missense_Mutation_p.R44H|DCN_uc001tbt.2_Missense_Mutation_p.R44H|DCN_uc001tbu.2_Missense_Mutation_p.R44H NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 44 organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 CTCGAAGTCGCGGTCATCAGG 0.532 NA OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 89 0 0 0.00499 0 0 NCOR2 9612 broad.mit.edu 37 12 124821386 124821386 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr12:124821386C>G uc010tay.1 - 40 6214 c.6058G>C c.(6058-6060)GCG>CCG p.A2020P NCOR2_uc010taz.1_Missense_Mutation_p.A2004P|NCOR2_uc010tax.1_Missense_Mutation_p.A131P NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2021 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCAGGTGGCGCCGGCGGGTCC 0.662 NA 5 23 0 0 0.000602 0 0 RNF17 56163 broad.mit.edu 37 13 25417962 25417962 + Missense_Mutation SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr13:25417962A>G uc001upr.2 + 20 2725 c.2684A>G c.(2683-2685)CAC>CGC p.H895R RNF17_uc010tdd.1_Missense_Mutation_p.H754R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H895R|RNF17_uc001ups.2_Missense_Mutation_p.H834R|RNF17_uc010aac.2_Missense_Mutation_p.H93R|RNF17_uc010aad.2_5'UTR NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 895 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AATGAAGTACACAACTTAAAT 0.313 NA 4 18 0 0 0.000248 0 0 ABCC4 10257 broad.mit.edu 37 13 95723952 95723952 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr13:95723952C>T uc001vmd.3 - 25 3293 c.3174G>A c.(3172-3174)CTG>CTA p.L1058L ABCC4_uc010afk.2_Silent_p.L1011L NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 1058 ABC transporter 2.|Helical; (Potential). platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TCAGATGCTTCAGTACCAGAG 0.438 NA 7 78 0 0 0.001984 0 0 NALCN 259232 broad.mit.edu 37 13 101759838 101759838 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr13:101759838G>T uc001vox.1 - 22 2768 c.2579C>A c.(2578-2580)GCA>GAA p.A860E NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 860 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTGTACTTACGCGTTGAAGCG 0.502 NA 10 57 7.48243e-07 9.47415e-07 0.006214 1 0 FAM70B 348013 broad.mit.edu 37 13 114504650 114504650 + Nonsense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr13:114504650T>A uc001vuh.2 + 7 561 c.534T>A c.(532-534)TAT>TAA p.Y178* NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 178 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) CCGCCTACTATGAGTTCATCG 0.627 NA 5 19 0 0 0.001168 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216239 20216239 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:20216239C>A uc010tkt.1 + 1 653 c.653C>A c.(652-654)TCT>TAT p.S218Y NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTACTATTCTCTTATGCTATC 0.507 NA 8 71 1.26484e-09 1.66751e-09 0.00308 1 0 OR4N2 390429 broad.mit.edu 37 14 20296152 20296152 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:20296152C>T uc010tkv.1 + 1 545 c.545C>T c.(544-546)CCA>CTA p.P182L NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGATGTCCCACAGGTCATC 0.537 NA 39 154 0 0 0.007835 0 0 CHD8 57680 broad.mit.edu 37 14 21871246 21871246 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:21871246C>A uc001was.1 - 18 2901 c.2807G>T c.(2806-2808)GGT>GTT p.G936V CHD8_uc001war.1_Missense_Mutation_p.G832V|CHD8_uc001wav.1_Missense_Mutation_p.G378V NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1215 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AAGATTAATACCAAGTCCACC 0.478 NA 8 46 0.000274275 0.000321816 0.004482 1 0 BAZ1A 11177 broad.mit.edu 37 14 35245502 35245502 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:35245502G>C uc001wsk.2 - 18 3024 c.2456C>G c.(2455-2457)TCT>TGT p.S819C BAZ1A_uc001wsl.2_Missense_Mutation_p.S787C NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 819 Interaction with SMARCA5. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCCAGGAATAGAAGGGAAAAT 0.408 NA 3 49 0 0 0.004672 0 0 LRFN5 145581 broad.mit.edu 37 14 42356775 42356775 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:42356775C>A uc001wvm.2 + 3 2145 c.947C>A c.(946-948)CCT>CAT p.P316H LRFN5_uc010ana.2_Missense_Mutation_p.P316H NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 316 Extracellular (Potential).|Ig-like. 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) GACCCTGAGCCTGCAATTCAC 0.463 NA HNSCC(30;0.082) 19 25 8.00594e-06 9.81913e-06 0.007413 1 0 PTGDR 5729 broad.mit.edu 37 14 52734683 52734683 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:52734683C>T uc001wzq.2 + 1 253 c.151C>T c.(151-153)CGG>TGG p.R51W NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 51 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GTGGTGCTCGCGGCGTCCACT 0.701 NA 7 26 0 0 0.001984 0 0 ERH 2079 broad.mit.edu 37 14 69847288 69847288 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:69847288G>A uc001xlc.2 - 4 353 c.282C>T c.(280-282)CTC>CTT p.L94L NM_004450 NP_004441 P84090 ERH_HUMAN enhancer of rudimentary homolog 94 cell cycle|pyrimidine nucleoside metabolic process midbody protein binding 0 all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507) GCCGACGAAGGAGCACGTAGA 0.507 NA 17 59 0 0 0.007413 0 0 SNW1 22938 broad.mit.edu 37 14 78189553 78189553 + Silent SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:78189553C>G uc001xuf.2 - 11 1128 c.1101G>C c.(1099-1101)CGG>CGC p.R367R SNW1_uc010tvm.1_Silent_p.R292R|SNW1_uc010asu.2_Silent_p.R205R|SNW1_uc010tvn.1_Silent_p.R367R NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 367 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TGGAAAGATTCCGGTCATGCT 0.383 NA 13 80 0 0 0.00245 0 0 NRXN3 9369 broad.mit.edu 37 14 79454429 79454429 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:79454429G>T uc001xun.2 + 12 2579 c.2088G>T c.(2086-2088)GAG>GAT p.E696D NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.E821D NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1069 EGF-like 3.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AACAATGGGAGGGCTTCACCT 0.443 NA 10 28 9.70103e-10 1.29347e-09 0.008291 1 0 KIAA1409 57578 broad.mit.edu 37 14 94084571 94084571 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:94084571C>A uc001ybv.1 + 27 3876 c.3793C>A c.(3793-3795)CTG>ATG p.L1265M KIAA1409_uc001ybs.1_Missense_Mutation_p.L1243M NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1420 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) CAGCAAGATCCTGCTGCATCT 0.438 NA 8 29 5.4927e-09 7.18748e-09 0.004482 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102474660 102474660 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:102474660C>T uc001yks.2 + 29 6127 c.5963C>T c.(5962-5964)CCC>CTC p.P1988L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1988 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CATTCCAACCCCAACTACGAC 0.473 NA 8 32 0 0 0.006214 0 0 INF2 64423 broad.mit.edu 37 14 105169539 105169539 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:105169539C>T uc001ypb.2 + 3 632 c.489C>T c.(487-489)GAC>GAT p.D163D INF2_uc010tyi.1_Silent_p.D163D|INF2_uc001ypc.2_Silent_p.D163D|INF2_uc001yoy.3_Silent_p.D163D|INF2_uc001ypa.2_Silent_p.D163D NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 163 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TGACCCTGGACGCCCTGGACC 0.662 NA 8 53 0 0 0.00308 0 0 AKT1 207 broad.mit.edu 37 14 105239420 105239420 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:105239420C>A uc001ypk.2 - 11 1521 c.967G>T c.(967-969)GAC>TAC p.D323Y INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.D323Y|AKT1_uc010axa.2_Missense_Mutation_p.D323Y|AKT1_uc001ypm.2_Missense_Mutation_p.D323Y|AKT1_uc001ypn.2_Missense_Mutation_p.D323Y|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.D261Y NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 323 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TAGTCATTGTCCTCCAGCACC 0.632 1 Mis breast|colorectal|ovarian|NSCLC 7 41 8.12818e-05 9.6334e-05 0.001984 1 0 ADAM6 8755 broad.mit.edu 37 14 106919436 106919436 + Splice_Site SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr14:106919436A>T uc010tyt.1 - 242 c.10445_splice c.e242+1 uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 TCGGGGACCCACCCAGGCTGT 0.582 NA 11 30 0 0 0.000978 0 0 SNURF 8926 broad.mit.edu 37 15 25213175 25213175 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:25213175A>T uc001ywu.2 + 3 333 c.207A>T c.(205-207)AGA>AGT p.R69S SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Missense_Mutation_p.R69S NM_022804 NP_073715 Q9Y675 SNURF_HUMAN SNRPN upstream reading frame protein 69 nucleus 0 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) AGACACCAAGAGGTGGTTAAA 0.458 NA 6 36 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 15 28599954 28599954 + Silent SNP A A G rs144345425 by1000genomes TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:28599954A>G uc010uaf.1 - 4 306 c.288T>C c.(286-288)CTT>CTC p.L96L SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment; NA GGCTGTAGTAAAGTGCCATCT 0.478 NA 3 19 0 0 0.000248 0 0 EXD1 161829 broad.mit.edu 37 15 41482169 41482169 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:41482169C>T uc001znk.2 - 9 1039 c.848G>A c.(847-849)CGC>CAC p.R283H EXD1_uc001znj.2_Missense_Mutation_p.R81H|EXD1_uc010ucv.1_Missense_Mutation_p.R341H NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 283 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 AGACCCTTCGCGATACGTGTT 0.542 NA 11 73 0 0 0.001368 0 0 SLTM 79811 broad.mit.edu 37 15 59192029 59192029 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:59192029T>A uc002afp.2 - 7 785 c.697A>T c.(697-699)ACG>TCG p.T233S SLTM_uc002afo.2_Missense_Mutation_p.T215S|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.T132S NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 233 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTCACAGTCGTATGAGCTTCC 0.473 NA 10 57 0 0 0.000978 0 0 SLTM 79811 broad.mit.edu 37 15 59192032 59192032 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:59192032G>A uc002afp.2 - 7 782 c.694C>T c.(694-696)CAT>TAT p.H232Y SLTM_uc002afo.2_Missense_Mutation_p.H214Y|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.H131Y NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 232 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 ACAGTCGTATGAGCTTCCATC 0.473 NA 11 59 0 0 0.000978 0 0 C15orf42 90381 broad.mit.edu 37 15 90166906 90166906 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:90166906G>C uc002boe.2 + 20 3365 c.3365G>C c.(3364-3366)AGA>ACA p.R1122T C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1122 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ACTACACCAAGAAGGATCTCT 0.413 NA 5 168 0 0 0.000602 0 0 ANPEP 290 broad.mit.edu 37 15 90328672 90328672 + Nonsense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr15:90328672C>A uc002bop.3 - 21 3104 c.2812G>T c.(2812-2814)GAG>TAG p.E938* NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 938 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) AGGGCTTGCTCCAGGGCCCGG 0.552 NSCLC(30;827 977 2459 19669 26125) NA 21 91 5.26018e-13 7.26111e-13 0.001882 1 0 PRSS22 64063 broad.mit.edu 37 16 2903248 2903248 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:2903248G>C uc002cry.1 - 6 866 c.800C>G c.(799-801)GCC>GGC p.A267G PRSS22_uc002crz.1_Missense_Mutation_p.A157G NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 267 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 GTTGCGCTCGGCACAGCCCTC 0.716 NA 6 17 0 0 0.001984 0 0 CREBBP 1387 broad.mit.edu 37 16 3817818 3817818 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:3817818C>G uc002cvv.2 - 16 3357 c.3153G>C c.(3151-3153)AAG>AAC p.K1051N CREBBP_uc002cvw.2_Missense_Mutation_p.K1013N NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1051 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTTCAGGTTTCTTTTCATCCA 0.433 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 3 87 0 0 0.004672 0 0 CLEC16A 23274 broad.mit.edu 37 16 11038605 11038605 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:11038605G>A uc002dao.2 + 1 261 c.31G>A c.(31-33)GGG>AGG p.G11R CLEC16A_uc002dan.3_Missense_Mutation_p.G11R|DEXI_uc002dal.2_5'Flank NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 11 ovary(1)|central_nervous_system(1) 2 CTGGGTGGGCGGGGGCCATGG 0.711 NA 3 12 0 0 0.004672 0 0 UMOD 7369 broad.mit.edu 37 16 20347991 20347991 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:20347991T>A uc002dgz.2 - 9 1928 c.1799A>T c.(1798-1800)AAC>ATC p.N600I UMOD_uc002dha.2_Missense_Mutation_p.N600I|UMOD_uc002dhb.2_Missense_Mutation_p.N633I NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 600 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GGGACCCAAGTTCAGGACACG 0.527 NA 18 31 0 0 0.00278 0 0 CACNG3 10368 broad.mit.edu 37 16 24366257 24366257 + Silent SNP C C T rs147734423 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:24366257C>T uc002dmf.2 + 3 1599 c.399C>T c.(397-399)AAC>AAT p.N133N NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 133 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) GCAGACACAACGTCATTCTCA 0.587 NA 7 51 0 0 0.004482 0 0 TNRC6A 27327 broad.mit.edu 37 16 24762097 24762097 + Missense_Mutation SNP A A C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:24762097A>C uc002dmm.2 + 3 218 c.104A>C c.(103-105)AAA>ACA p.K35T NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 35 Potential. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) aaaaagaaaaaagacgacaag 0.199 NA 3 21 0 0 0.004672 0 0 ZNF276 92822 broad.mit.edu 37 16 89799734 89799734 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr16:89799734C>A uc002fos.3 + 7 1291 c.1194C>A c.(1192-1194)AGC>AGA p.S398R ZNF276_uc010ciq.2_Missense_Mutation_p.S184R|ZNF276_uc002fop.2_Missense_Mutation_p.S306R|ZNF276_uc002foq.3_Missense_Mutation_p.S323R|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.S184R|ZNF276_uc010cis.2_Missense_Mutation_p.S157R|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.S236R|ZNF276_uc010cit.1_Missense_Mutation_p.S157R NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) AGAGTGAAAGCAAAGAAGCCA 0.448 NA 14 93 0.000219431 0.000258327 0.00245 1 0 SMYD4 114826 broad.mit.edu 37 17 1703946 1703946 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:1703946C>T uc002ftm.3 - 5 910 c.742G>A c.(742-744)GTT>ATT p.V248I SMYD4_uc002ftn.1_Missense_Mutation_p.V103I NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 248 zinc ion binding skin(3)|kidney(2) 5 TTTGTGGCAACGAGACAGCGA 0.517 NA 14 104 0 0 0.004007 0 0 SMG6 23293 broad.mit.edu 37 17 2202976 2202976 + Silent SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:2202976T>C uc002fub.1 - 2 1126 c.1071A>G c.(1069-1071)GAA>GAG p.E357E SMG6_uc002fud.1_Silent_p.E326E NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 357 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 TGTTCATGGCTTCTGCATCGA 0.498 Melanoma(59;28 1088 11621 25887 46638 50814) NA 16 60 0 0 0.003163 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4446343 4446343 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:4446343G>A uc002fyb.3 - 20 2819 c.2757C>T c.(2755-2757)ACC>ACT p.T919T MYBBP1A_uc002fxz.3_Silent_p.T919T|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 919 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 GGTAGAGGGCGGTGGGGGAGT 0.667 NA 13 95 0 0 0.004007 0 0 KIAA0753 9851 broad.mit.edu 37 17 6531765 6531765 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:6531765C>T uc002gde.3 - 3 749 c.390G>A c.(388-390)CAG>CAA p.Q130Q KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 130 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) GTCCACACTTCTGAGAGCTTT 0.433 NA 4 41 0 0 0.000602 0 0 TP53 7157 broad.mit.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:7578500G>A uc002gim.2 - 5 624 c.430C>T c.(430-432)CAG>TAG p.Q144* TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 144 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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) ACCCACAGCTGCACAGGGCAG 0.597 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) 8 36 0 0 0.004482 0 0 AURKB 9212 broad.mit.edu 37 17 8109862 8109862 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:8109862C>A uc002gkm.2 - 7 694 c.633G>T c.(631-633)AAG>AAT p.K211N AURKB_uc010cnu.2_Missense_Mutation_p.K31N|AURKB_uc002gkn.2_Missense_Mutation_p.K212N|AURKB_uc010vuu.1_Missense_Mutation_p.K170N|AURKB_uc002gko.2_RNA NM_004217 NP_004208 Q96GD4 AURKB_HUMAN aurora kinase B 211 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(1)|central_nervous_system(1) 4 TCAGCTCTCCCTTGAGCCCTA 0.547 NSCLC(134;1161 2470 43664 51568) NA 11 31 1.08611e-07 1.38518e-07 0.000978 1 0 NCRNA00188 125144 broad.mit.edu 37 17 16342531 16342531 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:16342531G>C uc002gqc.2 + 1 231 c.76G>C c.(76-78)GTG>CTG p.V26L NCRNA00188_uc010vwf.1_Intron|NCRNA00188_uc010vwg.1_Intron|NCRNA00188_uc010vwh.1_Intron|NCRNA00188_uc010cpd.2_Intron|NCRNA00188_uc002gqb.3_Intron|NCRNA00188_uc010vwi.1_Intron|NCRNA00188_uc010vwj.1_Intron|NCRNA00188_uc002gqa.3_Intron|NCRNA00188_uc010vwk.1_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|SNORD49B_uc010cpf.2_5'Flank|SNORD49A_uc010cpg.1_5'Flank|SNORD65_uc002gqf.1_5'Flank NR_027667 RecName: Full=Putative uncharacterized protein C17orf45, mitochondrial; Flags: Precursor; 0 CTGCGCCCGCGTGGCTTTCGC 0.687 Pancreas(170;1717 2016 9057 29149 45168) NA 8 45 0 0 0.006214 0 0 SPAG5 10615 broad.mit.edu 37 17 26925630 26925630 + Silent SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:26925630A>T uc002hbq.2 - 2 167 c.75T>A c.(73-75)CCT>CCA p.P25P SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 25 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) GTTCACGGAGAGGAGTTCTCA 0.587 NA 9 38 0 0 0.008291 0 0 TMEM132E 124842 broad.mit.edu 37 17 32957127 32957127 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:32957127C>G uc002hif.2 + 6 1497 c.1169C>G c.(1168-1170)TCC>TGC p.S390C NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 390 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CTGGACATCTCCGCCCTAGTG 0.572 NA 4 29 0 0 0.000248 0 0 AOC3 8639 broad.mit.edu 37 17 41004733 41004733 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:41004733C>T uc002ibv.2 + 1 1533 c.1373C>T c.(1372-1374)ACG>ATG p.T458M NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 458 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CTTGCGGAAACGGTGCTGGTC 0.527 NSCLC(3;192 220 10664 11501 16477) NA 10 82 0 0 0.008291 0 0 SLC4A1 6521 broad.mit.edu 37 17 42337806 42337806 + Nonsense_Mutation SNP C C A rs55708136 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:42337806C>A uc002igf.3 - 6 600 c.451G>T c.(451-453)GAG>TAG p.E151* SLC4A1_uc002igg.3_Nonsense_Mutation_p.E151* NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 151 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AGCAGCTCCTCTCGGTCCTGA 0.607 NA 9 19 1.12685e-05 1.37726e-05 0.004482 1 0 WNT9B 7484 broad.mit.edu 37 17 44952530 44952530 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:44952530G>A uc002ikw.1 + 3 435 c.398G>A c.(397-399)CGG>CAG p.R133Q WNT9B_uc002ikx.1_Missense_Mutation_p.R133Q NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 133 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding p.R133W(1) lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) ACCCTGGCCCGGGCCTGCAGC 0.637 NA 8 199 0 0 0.00308 0 0 DNAI2 64446 broad.mit.edu 37 17 72301535 72301536 + Missense_Mutation DNP CG CG TT TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:72301535_72301536CG>TT uc002jkf.2 + 9 1264_1265 c.1165_1166CG>TT c.(1165-1167)CGC>TTC p.R389F DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 389 WD 4. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CTGGACAGCCCGCATTTGGTCT 0.594 NA Kartagener_syndrome 16 30 0 0 0.004672 0 0 ENGASE 64772 broad.mit.edu 37 17 77077994 77077994 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr17:77077994C>T uc002jwv.2 + 7 895 c.887C>T c.(886-888)TCC>TTC p.S296F ENGASE_uc002jwu.1_Missense_Mutation_p.S296F|ENGASE_uc010wtz.1_Missense_Mutation_p.S110F|ENGASE_uc002jww.2_5'UTR NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 296 BRCT. cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 TTCTTTGATTCCTGCGACGGC 0.622 NA 11 122 0 0 0.000978 0 0 DSC3 1825 broad.mit.edu 37 18 28588469 28588469 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr18:28588469C>A uc002kwj.3 - 10 1441 c.1286G>T c.(1285-1287)CGT>CTT p.R429L DSC3_uc002kwi.3_Missense_Mutation_p.R429L NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 429 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTTCACTTGACGGTTTTCTTC 0.388 NA 3 32 0.004672 0.0052374 0.004672 1 0 ASXL3 80816 broad.mit.edu 37 18 31323805 31323805 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr18:31323805T>A uc010dmg.1 + 12 4048 c.3993T>A c.(3991-3993)AGT>AGA p.S1331R ASXL3_uc002kxq.2_Missense_Mutation_p.S1038R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1331 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCAGTGCTAGTAACTTAGTCT 0.463 NA 56 99 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9089456 9089456 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:9089456T>A uc002mkp.2 - 1 2563 c.2359A>T c.(2359-2361)AAT>TAT p.N787Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 787 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 GAAGTTGCATTTCTGACTCTT 0.507 NA 26 127 0 0 0.005443 0 0 STX10 8677 broad.mit.edu 37 19 13260564 13260564 + Silent SNP G G C rs143886134 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:13260564G>C uc010xnb.1 - 2 183 c.183C>G c.(181-183)CTC>CTG p.L61L STX10_uc002mwn.2_5'Flank|STX10_uc002mwo.2_5'Flank|STX10_uc010xna.1_5'Flank|STX10_uc010xnc.1_Missense_Mutation_p.S10W|IER2_uc002mwr.2_5'Flank NM_003765 NP_003756 O60499 STX10_HUMAN syntaxin 10 61 Cytoplasmic (Potential).|Potential. Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) CCAGGTCCTCGAGGTCCCACT 0.652 NA OREG0025290 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 78 0 0 0.004672 0 0 EMR3 84658 broad.mit.edu 37 19 14736360 14736360 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:14736360C>G uc002mzi.3 - 15 2012 c.1864G>C c.(1864-1866)GAG>CAG p.E622Q EMR3_uc010dzp.2_Missense_Mutation_p.E570Q|EMR3_uc010xnv.1_Missense_Mutation_p.E496Q NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 622 Cytoplasmic (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 GTCTCAGACTCAGATTTTGAT 0.388 NA 10 71 0 0 0.000978 0 0 EMR2 30817 broad.mit.edu 37 19 14866474 14866474 + Missense_Mutation SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:14866474A>G uc002mzp.1 - 13 1864 c.1408T>C c.(1408-1410)TCC>CCC p.S470P EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Missense_Mutation_p.S470P|EMR2_uc002mzo.1_Missense_Mutation_p.S459P|EMR2_uc002mzq.1_Missense_Mutation_p.S410P|EMR2_uc002mzr.1_Missense_Mutation_p.S421P|EMR2_uc002mzs.1_Missense_Mutation_p.S328P|EMR2_uc002mzt.1_Missense_Mutation_p.S366P|EMR2_uc002mzu.1_Missense_Mutation_p.S377P|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 470 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 ACACGGTGGGAGAAGGTGAAG 0.587 NA 9 89 0 0 0.004482 0 0 ARMC6 93436 broad.mit.edu 37 19 19168365 19168365 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:19168365C>T uc002nld.2 + 9 1782 c.1434C>T c.(1432-1434)GCC>GCT p.A478A ARMC6_uc002nlc.2_Silent_p.A453A|ARMC6_uc010xql.1_Silent_p.A385A|ARMC6_uc002nle.2_Silent_p.A453A|ARMC6_uc010xqm.1_Silent_p.A478A NM_033415 NP_219483 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 478 protein binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) CCAAGGCCGCCCTGCGGGACC 0.672 NA 11 58 0 0 0.000978 0 0 GMIP 51291 broad.mit.edu 37 19 19753363 19753363 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:19753363C>T uc002nnd.2 - 2 202 c.85G>A c.(85-87)GAA>AAA p.E29K GMIP_uc010xrb.1_Missense_Mutation_p.E29K|GMIP_uc010xrc.1_Missense_Mutation_p.E29K NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 29 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 AGTGAGATTTCGAGGTTGTCC 0.567 NA 25 117 0 0 0.004656 0 0 ZNF99 7652 broad.mit.edu 37 19 22940023 22940023 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:22940023C>A uc010xrh.1 - 6 2308 c.2308G>T c.(2308-2310)GGG>TGG p.G770W NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGTTTCTTCCCAGTATAAATT 0.373 NA 7 38 2.0095e-06 2.50831e-06 0.001984 1 0 ZNF254 9534 broad.mit.edu 37 19 24309344 24309344 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:24309344C>T uc002nru.2 + 4 676 c.542C>T c.(541-543)TCT>TTT p.S181F ZNF254_uc010xrk.1_Missense_Mutation_p.S96F NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 181 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GAAAAGAAATCTTTCAAATGT 0.284 NA 9 71 0 0 0.006214 0 0 ZNF507 22847 broad.mit.edu 37 19 32845809 32845809 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:32845809C>G uc002nte.2 + 3 2345 c.2073C>G c.(2071-2073)CAC>CAG p.H691Q ZNF507_uc002ntc.2_Missense_Mutation_p.H691Q|ZNF507_uc010xrn.1_Missense_Mutation_p.H691Q|ZNF507_uc002ntd.2_Missense_Mutation_p.H691Q NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 691 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) TGATCCACCACTGTAAGACAA 0.398 NA 6 28 0 0 0.001168 0 0 SUPT5H 6829 broad.mit.edu 37 19 39957358 39957358 + Missense_Mutation SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:39957358A>G uc002olo.3 + 13 1189 c.1010A>G c.(1009-1011)CAG>CGG p.Q337R SUPT5H_uc002olp.3_Missense_Mutation_p.Q337R|SUPT5H_uc002olq.3_Missense_Mutation_p.Q333R|SUPT5H_uc002oln.3_Missense_Mutation_p.Q337R|SUPT5H_uc002olr.3_Missense_Mutation_p.Q337R|SUPT5H_uc002ols.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 337 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) CGGCCTCCACAGAGGCTGTTT 0.577 NA 16 65 0 0 0.004007 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50453257 50453257 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:50453257C>T uc010ybh.1 - 11 2158 c.2067G>A c.(2065-2067)GAG>GAA p.E689E SIGLEC11_uc010ybi.1_Silent_p.E593E NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 689 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) ACATCTCCCTCTCCAATTGAA 0.597 NA 6 17 0 0 0.001168 0 0 ZNF677 342926 broad.mit.edu 37 19 53741564 53741564 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:53741564G>C uc002qbf.1 - 5 601 c.416C>G c.(415-417)TCC>TGC p.S139C ZNF677_uc002qbg.1_Missense_Mutation_p.S139C NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) ATGTATTGAGGATTTATTATG 0.333 NA 12 32 0 0 0.000978 0 0 LILRB3 11025 broad.mit.edu 37 19 54726852 54726852 + Translation_Start_Site SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:54726852G>A uc002qef.1 - 1 108 c.-3C>T c.(-5--1)GACGC>GATGC LILRB3_uc002qee.1_Translation_Start_Site|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 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) GCGTCATGGCGTCTCCTCCCG 0.642 NA 6 56 0 0 0.001168 0 0 LILRB5 10990 broad.mit.edu 37 19 54758820 54758820 + Nonsense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:54758820G>A uc002qex.2 - 6 1144 c.1033C>T c.(1033-1035)CAG>TAG p.Q345* LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.Q336*|LILRB5_uc002qey.2_Nonsense_Mutation_p.Q345*|LILRB5_uc002qez.2_Nonsense_Mutation_p.Q245*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.Q235*|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 345 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGCCATGACTGACACAGCAGG 0.567 NA 4 41 0 0 0.000248 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55607673 55607673 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:55607673G>A uc002qix.2 - 7 998 c.982C>T c.(982-984)CGG>TGG p.R328W PPP1R12C_uc010yfs.1_Missense_Mutation_p.R254W|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R328W NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 328 Potential. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TCCTGGCCCCGGCTCTGGGAA 0.647 NA 25 95 0 0 0.005443 0 0 PXDN 7837 broad.mit.edu 37 2 1642712 1642712 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:1642712G>A uc002qxa.2 - 21 4176 c.4112C>T c.(4111-4113)TCA>TTA p.S1371L NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1371 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCTGAAGGCTGAGGTGCTGTT 0.527 NA 5 68 0 0 0.000602 0 0 RNASEH1 246243 broad.mit.edu 37 2 3596650 3596650 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:3596650G>T uc002qxt.2 - 5 652 c.562C>A c.(562-564)CAT>AAT p.H188N RNASEH1_uc002qxs.2_Missense_Mutation_p.H71N NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 188 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) TAACTTACATGAATTTCCGCT 0.308 NA 5 195 0.000602214 0.000695015 0.000602 1 0 APOB 338 broad.mit.edu 37 2 21224710 21224710 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:21224710G>A uc002red.2 - 29 13712 c.13584C>T c.(13582-13584)TAC>TAT p.Y4528Y NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4528 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAAATGTGTGGTAGTTTTGAA 0.363 NA 23 75 0 0 0.001882 0 0 APOB 338 broad.mit.edu 37 2 21231013 21231013 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:21231013C>G uc002red.2 - 26 8855 c.8727G>C c.(8725-8727)GAG>GAC p.E2909D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2909 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGTCTTGATCTCGTTGCGCA 0.468 NA 14 146 0 0 0.003163 0 0 CDKL4 344387 broad.mit.edu 37 2 39414782 39414782 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:39414782C>G uc002rrm.2 - 6 721 c.721G>C c.(721-723)GAG>CAG p.E241Q CDKL4_uc010fal.1_Missense_Mutation_p.E241Q NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 241 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) TCTTCTGGCTCAGGTATACTG 0.303 NA 4 33 0 0 0.000248 0 0 CDKL4 344387 broad.mit.edu 37 2 39431698 39431698 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:39431698T>A uc002rrm.2 - 4 424 c.424A>T c.(424-426)ATT>TTT p.I142F CDKL4_uc010fal.1_Missense_Mutation_p.I142F NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 142 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) AAGTCACAAATCTTGATTATT 0.279 NA 3 29 0 0 0.000248 0 0 SIX2 10736 broad.mit.edu 37 2 45235795 45235795 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:45235795C>A uc002ruo.2 - 1 748 c.455G>T c.(454-456)CGC>CTC p.R152L SIX2_uc002rup.2_Missense_Mutation_p.R152L NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 152 Homeobox. nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACGCTTCTCGCGGGGTGAAGG 0.667 NA 18 82 9.16793e-09 1.19523e-08 0.00499 1 0 CCDC88A 55704 broad.mit.edu 37 2 55562132 55562132 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:55562132C>G uc002ryv.2 - 15 2667 c.1825G>C c.(1825-1827)GAA>CAA p.E609Q CCDC88A_uc010yoz.1_Missense_Mutation_p.E609Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E609Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.E511Q|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 609 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TGTCTTTTTTCAAATTCAATC 0.289 NA 2 16 0 0 0.004672 0 0 ALMS1 7840 broad.mit.edu 37 2 73675658 73675658 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:73675658C>T uc002sje.1 + 10 2118 c.2007C>T c.(2005-2007)TCC>TCT p.S669S ALMS1_uc002sjf.1_Silent_p.S625S|ALMS1_uc002sjg.2_Silent_p.S55S|ALMS1_uc002sjh.1_Silent_p.S55S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 667 3.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CCTCTACATCCCACTCACATG 0.493 NA 4 105 0 0 0.000248 0 0 THNSL2 55258 broad.mit.edu 37 2 88484874 88484874 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:88484874G>T uc002ssz.3 + 8 1258 c.1105G>T c.(1105-1107)GTG>TTG p.V369L THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.V369L|THNSL2_uc010fhe.2_Intron NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 369 threonine biosynthetic process threonine synthase activity ovary(1) 1 ATCCGTGTCAGTGTCGGATGA 0.572 NA 11 40 1.61879e-10 2.20006e-10 0.001368 1 0 MRPS5 64969 broad.mit.edu 37 2 95766250 95766250 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:95766250C>A uc002sub.2 - 10 1118 c.900G>T c.(898-900)AGG>AGT p.R300S MRPS5_uc002suc.2_RNA NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 300 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome p.R300K(1) ovary(2)|central_nervous_system(1) 3 TGATATGCGTCCTTTTAAATC 0.333 NA 15 44 7.93312e-07 1.00088e-06 0.00245 1 0 GALNT5 11227 broad.mit.edu 37 2 158115947 158115947 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:158115947G>T uc002tzg.2 + 1 1608 c.1353G>T c.(1351-1353)AAG>AAT p.K451N GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 451 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 CCCATGGAAAGGAGAAGGAGG 0.498 NA 7 72 1.06961e-07 1.3741e-07 0.00308 1 0 SCN3A 6328 broad.mit.edu 37 2 165997469 165997469 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:165997469G>A uc002ucx.2 - 13 2203 c.1711C>T c.(1711-1713)CGC>TGC p.R571C SCN3A_uc002ucy.2_Missense_Mutation_p.R571C|SCN3A_uc002ucz.2_Missense_Mutation_p.R571C|SCN3A_uc002uda.1_Missense_Mutation_p.R440C|SCN3A_uc002udb.1_Missense_Mutation_p.R440C NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 571 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTGCTATTGCGTCTTGGGGAA 0.443 NA 6 45 0 0 0.001168 0 0 SCN9A 6335 broad.mit.edu 37 2 167085246 167085246 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:167085246C>T uc010fpl.2 - 22 4469 c.4128G>A c.(4126-4128)GTG>GTA p.V1376V uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1387 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TATCAAAGTTCACTTTCAGGT 0.398 NA 5 127 0 0 0.001168 0 0 XIRP2 129446 broad.mit.edu 37 2 167760139 167760139 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:167760139G>A uc002udx.2 + 1 165 c.147G>A c.(145-147)GAG>GAA p.E49E XIRP2_uc010fpn.2_Silent_p.E49E|XIRP2_uc010fpo.2_Silent_p.E49E|XIRP2_uc010fpp.2_Silent_p.E49E NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTGAAGGAGAGGTAGTATCAG 0.488 NA 6 41 0 0 0.001984 0 0 DHRS9 10170 broad.mit.edu 37 2 169938262 169938262 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:169938262C>T uc002uep.2 + 5 1675 c.171C>T c.(169-171)ATC>ATT p.I57I DHRS9_uc002ueq.2_Silent_p.I57I|DHRS9_uc010zdc.1_Silent_p.I117I|DHRS9_uc002uer.1_Silent_p.I57I|DHRS9_uc010zdd.1_Silent_p.I57I|DHRS9_uc010zde.1_Silent_p.I57I NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 57 NAD (By similarity). 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 TTCATGTAATCGCTGCCTGTC 0.433 NA 20 39 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179406266 179406266 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:179406266C>T uc010zfg.1 - 299 90058 c.89834G>A c.(89833-89835)CGT>CAT p.R29945H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23640H|TTN_uc010zfi.1_Missense_Mutation_p.R23573H|TTN_uc010zfj.1_Missense_Mutation_p.R23448H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30872 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) CATGCCATCACGGGAAACATC 0.458 NA 6 16 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179427449 179427449 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:179427449C>T uc010zfg.1 - 275 75930 c.75706G>A c.(75706-75708)GAA>AAA p.E25236K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E18931K|TTN_uc010zfi.1_Missense_Mutation_p.E18864K|TTN_uc010zfj.1_Missense_Mutation_p.E18739K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26163 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) TCTCGTTTTTCGACAATGTAG 0.358 NA 14 35 0 0 0.001855 0 0 ITGA4 3676 broad.mit.edu 37 2 182347286 182347286 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:182347286G>T uc002unu.2 + 9 1712 c.949G>T c.(949-951)GCA>TCA p.A317S ITGA4_uc010zfl.1_Missense_Mutation_p.A317S NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 317 Potential.|FG-GAP 5.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GGACCTCAATGCAGATGGCTT 0.498 NA 21 191 2.32416e-17 3.28556e-17 0.002299 1 0 PLCL1 5334 broad.mit.edu 37 2 198949565 198949565 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:198949565G>A uc010fsp.2 + 2 1615 c.1324G>A c.(1324-1326)GTT>ATT p.V442I PLCL1_uc002uuv.3_Missense_Mutation_p.V363I NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 442 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CTGTCGAAGCGTTGAACTCGA 0.408 NA 4 53 0 0 0.000248 0 0 KCTD18 130535 broad.mit.edu 37 2 201355337 201355337 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:201355337C>T uc002uvs.2 - 7 1284 c.767G>A c.(766-768)CGA>CAA p.R256Q KCTD18_uc002uvt.2_Missense_Mutation_p.R256Q NM_152387 NP_689600 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain 256 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 CGTTATCAGTCGCCTAGAAAT 0.393 NA 4 51 0 0 0.000248 0 0 AOX1 316 broad.mit.edu 37 2 201515740 201515740 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:201515740A>T uc002uvx.2 + 26 2992 c.2891A>T c.(2890-2892)TAC>TTC p.Y964F AOX1_uc010zhf.1_Missense_Mutation_p.Y520F|AOX1_uc010fsu.2_Missense_Mutation_p.Y330F NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 964 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CAAACACCCTACAAACAAGAG 0.403 NA 13 58 0 0 0.001855 0 0 CHPF 79586 broad.mit.edu 37 2 220404493 220404493 + Missense_Mutation SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:220404493A>G uc002vmc.3 - 4 2167 c.1940T>C c.(1939-1941)TTC>TCC p.F647S CHPF_uc010zlh.1_Missense_Mutation_p.F485S NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 647 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCTGGGTGGAAGGCTTGGAA 0.662 NA 7 87 0 0 0.001984 0 0 COL4A3 1285 broad.mit.edu 37 2 228148568 228148568 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr2:228148568G>C uc002vom.1 + 33 2904 c.2742G>C c.(2740-2742)CAG>CAC p.Q914H COL4A3_uc002von.1_Missense_Mutation_p.Q914H|COL4A3_uc002voo.1_Missense_Mutation_p.Q914H|COL4A3_uc002vop.1_Missense_Mutation_p.Q914H|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 914 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CACCAGGGCAGAGGGGTAAGT 0.448 NA 7 62 0 0 0.001984 0 0 PLCB1 23236 broad.mit.edu 37 20 8717773 8717773 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:8717773G>T uc002wnb.2 + 20 2145 c.2142G>T c.(2140-2142)AAG>AAT p.K714N PLCB1_uc010zrb.1_Missense_Mutation_p.K613N|PLCB1_uc002wna.2_Missense_Mutation_p.K714N|PLCB1_uc002wnc.1_Missense_Mutation_p.K613N|PLCB1_uc002wnd.1_Missense_Mutation_p.K291N NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 714 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AGGCATTTAAGACCAAAACAT 0.388 NA 11 38 0.000978159 0.0011179 0.000978 1 0 FLRT3 23767 broad.mit.edu 37 20 14306548 14306548 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:14306548C>T uc002wov.1 - 3 2072 c.1605G>A c.(1603-1605)GGG>GGA p.G535G MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.G535G NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 535 Helical; (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGGCCACAGCCCCACCAATGA 0.473 NA 4 78 0 0 0.000248 0 0 KIF16B 55614 broad.mit.edu 37 20 16352372 16352372 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:16352372G>A uc002wpg.1 - 21 3543 c.3385C>T c.(3385-3387)CGC>TGC p.R1129C KIF16B_uc002wpe.1_Missense_Mutation_p.R511C|KIF16B_uc002wpf.1_Missense_Mutation_p.R511C|KIF16B_uc010gch.1_Missense_Mutation_p.R1078C|KIF16B_uc010gci.1_Missense_Mutation_p.R1129C NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1129 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TCCTGAAGGCGTCTTTGGACT 0.438 NA 6 44 0 0 0.001168 0 0 RRBP1 6238 broad.mit.edu 37 20 17640864 17640864 + Nonsense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:17640864G>A uc010zrq.1 - 3 643 c.289C>T c.(289-291)CGA>TGA p.R97* RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Nonsense_Mutation_p.R97*|RRBP1_uc002wpw.1_Nonsense_Mutation_p.R97*|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Nonsense_Mutation_p.R97* Q9P2E9 RRBP1_HUMAN SubName: Full=RRBP1 protein; Flags: Fragment; 97 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 ACTGGTTCTCGAAGGAGGACA 0.458 NA 5 19 0 0 0.000602 0 0 SLC12A5 57468 broad.mit.edu 37 20 44664453 44664453 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:44664453C>T uc010zxl.1 + 4 462 c.386C>T c.(385-387)CCG>CTG p.P129L SLC12A5_uc002xra.2_Missense_Mutation_p.P106L|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.P106L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 129 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTGTACCTGCCGTGCCTGCAG 0.597 NA 4 28 0 0 0.000602 0 0 CDH22 64405 broad.mit.edu 37 20 44806630 44806630 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:44806630G>A uc002xrm.2 - 10 2271 c.1870C>T c.(1870-1872)CCC>TCC p.P624S CDH22_uc010ghk.1_Missense_Mutation_p.P624S NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 624 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) AGGGCGCCGGGGCTGAGGGAG 0.652 NA 8 26 0 0 0.00308 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886812 47886812 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:47886812C>G uc002xui.2 - 3 1784 c.1537G>C c.(1537-1539)GAG>CAG p.E513Q NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 513 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGTAGGCCTCAAAGTATGCA 0.522 NA 5 58 0 0 0.000602 0 0 ZBP1 81030 broad.mit.edu 37 20 56188371 56188371 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:56188371C>G uc002xyo.2 - 5 799 c.518G>C c.(517-519)AGA>ACA p.R173T ZBP1_uc010gjm.2_Missense_Mutation_p.R172T|ZBP1_uc002xyp.2_Missense_Mutation_p.R98T|ZBP1_uc010zzn.1_Missense_Mutation_p.R173T NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 173 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) TGACTTTGCTCTTCTTCCAGA 0.343 NA 4 77 0 0 0.000602 0 0 CTSZ 1522 broad.mit.edu 37 20 57576612 57576612 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:57576612C>A uc002yai.2 - 3 521 c.395G>T c.(394-396)TGT>TTT p.C132F CTSZ_uc002yaj.3_Missense_Mutation_p.C132F NM_001336 NP_001327 Q9UBR2 CATZ_HUMAN cathepsin Z preproprotein 132 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity kidney(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) ACCCCCTTCACAGGAGCCAGC 0.602 NA 8 46 5.18039e-06 6.37587e-06 0.00308 1 0 CDH26 60437 broad.mit.edu 37 20 58587739 58587739 + Missense_Mutation SNP C C T rs145724462 by1000genomes TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr20:58587739C>T uc002ybe.2 + 18 2753 c.2453C>T c.(2452-2454)GCG>GTG p.A818V CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.A309V|CDH26_uc002ybh.2_Missense_Mutation_p.A151V|CDH26_uc002ybi.2_Missense_Mutation_p.A110V NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a Error:Variant_position_missing_in_Q8IXH8_after_alignment homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GGTTCAAAAGCGACTCCGTTT 0.453 NA 20 47 0 0 0.001882 0 0 MRPL39 54148 broad.mit.edu 37 21 26976215 26976215 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr21:26976215G>A uc002ylo.2 - 3 327 c.313C>T c.(313-315)CTG>TTG p.L105L MRPL39_uc002yln.2_Silent_p.L105L NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 105 mitochondrial ribosome nucleotide binding 0 ACCAGAGCCAGAATGGACTTC 0.363 NA 4 23 0 0 0.000602 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28306881 28306881 + Silent SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr21:28306881G>T uc002ymg.2 - 4 2322 c.1593C>A c.(1591-1593)ACC>ACA p.T531T NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 531 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCAGCTTCTTGGTCAGACAGA 0.542 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 7 52 2.0095e-06 2.50831e-06 0.001984 1 0 DSCAM 1826 broad.mit.edu 37 21 41416149 41416149 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr21:41416149C>A uc002yyq.1 - 31 5691 c.5239G>T c.(5239-5241)GCC>TCC p.A1747S DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1747 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACTGGCTGGCATAGCGGTTT 0.597 Melanoma(134;970 1778 1785 21664 32388) NA 10 32 3.86212e-05 4.63982e-05 0.008291 1 0 ZNF295 49854 broad.mit.edu 37 21 43411294 43411294 + Nonsense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr21:43411294C>A uc002zab.3 - 3 3125 c.2911G>T c.(2911-2913)GAA>TAA p.E971* ZNF295_uc002yzz.3_Nonsense_Mutation_p.E770*|ZNF295_uc002yzy.3_Nonsense_Mutation_p.E971*|ZNF295_uc002zaa.3_Nonsense_Mutation_p.E971* NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 971 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACCTCAGATTCCTTATGTGCC 0.537 NA 8 72 2.17888e-05 2.63562e-05 0.006214 1 0 ZNF295 49854 broad.mit.edu 37 21 43412359 43412359 + Nonsense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr21:43412359C>A uc002zab.3 - 3 2060 c.1846G>T c.(1846-1848)GAA>TAA p.E616* ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Nonsense_Mutation_p.E616*|ZNF295_uc002zaa.3_Nonsense_Mutation_p.E616* NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 616 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 TGGAATTTTTCATCCAAAACA 0.453 NA 7 78 2.17888e-05 2.63562e-05 0.006214 1 0 TTC38 55020 broad.mit.edu 37 22 46682990 46682990 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr22:46682990C>T uc003bhi.2 + 10 931 c.855C>T c.(853-855)GCC>GCT p.A285A TTC38_uc011aqx.1_Silent_p.A227A NM_017931 NP_060401 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 285 TPR 3. binding ovary(1) 1 GCCTGCAGGCCAACGATGCAA 0.647 NA 9 15 0 0 0.004482 0 0 CHL1 10752 broad.mit.edu 37 3 396330 396330 + Silent SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:396330T>C uc003bou.2 + 10 1264 c.993T>C c.(991-993)CCT>CCC p.P331P CHL1_uc003bot.2_Silent_p.P347P|CHL1_uc003bow.1_Silent_p.P331P|CHL1_uc011asi.1_Silent_p.P347P NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 331 Ig-like C2-type 4.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAGAGCCTCCTCGCTGGACAA 0.453 NA 18 103 0 0 0.006122 0 0 TIMP4 7079 broad.mit.edu 37 3 12195027 12195027 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:12195027G>A uc003bwo.2 - 5 970 c.663C>T c.(661-663)ATC>ATT p.I221I SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN tissue inhibitor of metalloproteinase 4 221 metal ion binding|metalloendopeptidase inhibitor activity 0 AGGGCTGAACGATGTCAACAA 0.532 Melanoma(199;1446 2144 30617 38794 51714) NA 10 82 0 0 0.006214 0 0 WDR6 11180 broad.mit.edu 37 3 49051255 49051255 + Nonsense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:49051255C>G uc003cvj.2 + 2 2516 c.2378C>G c.(2377-2379)TCA>TGA p.S793* WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Nonsense_Mutation_p.S241*|WDR6_uc010hkn.2_Nonsense_Mutation_p.S737*|WDR6_uc011bbz.1_Nonsense_Mutation_p.S712* NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 763 WD 12. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) ACCACAGGCTCAGCCCACGCA 0.577 NA OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 40 0 0 0.001368 0 0 GTPBP8 29083 broad.mit.edu 37 3 112710151 112710151 + Missense_Mutation SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:112710151T>C uc003dzn.2 + 1 352 c.305T>C c.(304-306)ATC>ACC p.I102T GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.I102T NM_014170 NP_054889 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 isoform 1 102 barrier septum formation GTP binding 0 GCCGTCCGTATCGACCACGCC 0.652 NA 6 28 0 0 0.001168 0 0 KIAA1407 57577 broad.mit.edu 37 3 113755597 113755597 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:113755597G>A uc003eax.2 - 5 599 c.452C>T c.(451-453)ACC>ATC p.T151I KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.T129I|KIAA1407_uc011bip.1_Missense_Mutation_p.T138I NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 151 ovary(2) 2 TTGAACGGTGGTACTTTCCTC 0.328 NA 6 30 0 0 0.001168 0 0 ADCY5 111 broad.mit.edu 37 3 123071356 123071356 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:123071356A>T uc003egh.1 - 2 1207 c.1207T>A c.(1207-1209)TCC>ACC p.S403T ADCY5_uc003egg.1_Missense_Mutation_p.S36T|ADCY5_uc003egi.1_5'UTR NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 403 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGTCTCTGGGAGACCTCAGCC 0.607 NA 12 43 0 0 0.001855 0 0 EPHB1 2047 broad.mit.edu 37 3 134670690 134670690 + Nonsense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:134670690C>T uc003eqt.2 + 3 821 c.601C>T c.(601-603)CAA>TAA p.Q201* EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 201 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CAGCATTGTGCAAAATTTTGC 0.478 NA 32 135 0 0 0.002096 0 0 XRN1 54464 broad.mit.edu 37 3 142095375 142095375 + Missense_Mutation SNP T T A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:142095375T>A uc003eus.2 - 24 2844 c.2777A>T c.(2776-2778)TAC>TTC p.Y926F XRN1_uc010huu.2_Missense_Mutation_p.Y392F|XRN1_uc003eut.2_Missense_Mutation_p.Y926F|XRN1_uc003euu.2_Missense_Mutation_p.Y926F|XRN1_uc003euv.1_Missense_Mutation_p.Y787F NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 926 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TGAAACAAGGTATCCACTCAC 0.323 NA 3 8 0 0 0.000248 0 0 SI 6476 broad.mit.edu 37 3 164737452 164737452 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:164737452C>A uc003fei.2 - 28 3423 c.3361G>T c.(3361-3363)GCA>TCA p.A1121S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1121 Sucrase.|Lumenal. 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) CGCTTAAATGCTGTATGTTCC 0.438 NA HNSCC(35;0.089) 6 45 8.12818e-05 9.6334e-05 0.001984 1 0 SI 6476 broad.mit.edu 37 3 164786586 164786586 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:164786586G>T uc003fei.2 - 5 469 c.407C>A c.(406-408)CCT>CAT p.P136H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 136 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) AAATAGTGTAGGTGAAGGTAT 0.333 NA HNSCC(35;0.089) 7 44 5.18039e-06 6.37587e-06 0.00308 1 0 OPA1 4976 broad.mit.edu 37 3 193372741 193372741 + Silent SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr3:193372741A>T uc003ftm.2 + 20 2172 c.1938A>T c.(1936-1938)TCA>TCT p.S646S OPA1_uc003ftg.2_Silent_p.S701S|OPA1_uc003fth.2_Silent_p.S665S|OPA1_uc003fti.2_Silent_p.S683S|OPA1_uc003ftj.2_Silent_p.S664S|OPA1_uc003ftk.2_Silent_p.S647S|OPA1_uc003ftl.2_Silent_p.S628S|OPA1_uc003ftn.2_Silent_p.S610S NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 646 Mitochondrial intermembrane (By similarity). S -> L (in OPA1). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CCATGAATTCAGGAACTTTTA 0.363 NA 4 9 0 0 0.000248 0 0 ZNF718 255403 broad.mit.edu 37 4 155318 155318 + Missense_Mutation SNP A A C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:155318A>C uc003fzt.3 + 8 976 c.843A>C c.(841-843)AAA>AAC p.K281N ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N61T NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CTGCACAAAAATACTACAAAT 0.363 NA 5 29 0 0 0.001168 0 0 GAK 2580 broad.mit.edu 37 4 884359 884359 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:884359G>A uc003gbm.3 - 10 1241 c.1042C>T c.(1042-1044)CCC>TCC p.P348S GAK_uc003gbn.3_Missense_Mutation_p.P269S|GAK_uc010ibk.1_Missense_Mutation_p.P242S|GAK_uc003gbl.3_Missense_Mutation_p.P212S NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 348 Poly-Pro. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) ACGGGAGGGGGTGGCCCTCGG 0.647 NA 6 36 0 0 0.001984 0 0 HGFAC 3083 broad.mit.edu 37 4 3451002 3451002 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:3451002C>T uc003ghc.2 + 14 1827 c.1824C>T c.(1822-1824)GGC>GGT p.G608G HGFAC_uc010icw.2_Silent_p.G615G NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 608 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AGAAGAACGGCGTGGCTTACC 0.677 NA 14 72 0 0 0.00499 0 0 GPR125 166647 broad.mit.edu 37 4 22390066 22390066 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:22390066G>A uc003gqm.1 - 19 3493 c.3228C>T c.(3226-3228)CCC>CCT p.P1076P GPR125_uc010ieo.1_Silent_p.P932P|GPR125_uc003gql.1_Silent_p.P203P NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1076 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TAGAGTTGGGGGGCTGGACGT 0.498 NA 5 27 0 0 0.000602 0 0 MRPL1 65008 broad.mit.edu 37 4 78830471 78830471 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:78830471A>T uc003hku.2 + 7 920 c.722A>T c.(721-723)CAT>CTT p.H241L MRPL1_uc010iji.1_Missense_Mutation_p.H164L NM_020236 NP_064621 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 precursor 241 RNA binding 0 AAAAATGGACATGAAATTAAG 0.308 NA 11 69 0 0 0.003163 0 0 HADH 3033 broad.mit.edu 37 4 108935703 108935703 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:108935703G>A uc003hyq.2 + 3 527 c.378G>A c.(376-378)GTG>GTA p.V126V HADH_uc010ilx.2_Silent_p.V126V|HADH_uc010ily.2_Intron|HADH_uc003hyr.2_Silent_p.V130V NM_005327 NP_005318 Q16836 HCDH_HUMAN L-3-hydroxyacyl-Coenzyme A dehydrogenase 126 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) ATCTGAAGGTGAAAAACGAGC 0.438 NA 46 39 0 0 0.00361 0 0 PDE5A 8654 broad.mit.edu 37 4 120528141 120528141 + Nonsense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:120528141A>T uc003idh.2 - 2 619 c.464T>A c.(463-465)TTA>TAA p.L155* PDE5A_uc003idf.2_Nonsense_Mutation_p.L113*|PDE5A_uc003idg.2_Nonsense_Mutation_p.L103* NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 155 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) ATCCTTCACTAATTCCAAGAG 0.438 NA 5 40 0 0 0.000602 0 0 FAT4 79633 broad.mit.edu 37 4 126411587 126411587 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:126411587C>A uc003ifj.3 + 17 13610 c.13610C>A c.(13609-13611)CCC>CAC p.P4537H FAT4_uc011cgp.1_Missense_Mutation_p.P2778H|FAT4_uc003ifi.1_Missense_Mutation_p.P2014H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4537 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCCAAAAATCCCAAAGAGGAG 0.527 NA 6 58 0.00116845 0.00133104 0.001168 1 0 PCDH10 57575 broad.mit.edu 37 4 134071517 134071517 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:134071517C>T uc003iha.2 + 1 1048 c.222C>T c.(220-222)TAC>TAT p.Y74Y uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Y74Y NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 74 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GGGTGCTGTACGTGAACGAGA 0.547 NA 6 92 0 0 0.001984 0 0 DCHS2 54798 broad.mit.edu 37 4 155155846 155155846 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:155155846G>A uc003inw.2 - 25 8593 c.8593C>T c.(8593-8595)CTG>TTG p.L2865L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2865 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) CCTTCTGGCAGAGAACCAAGA 0.527 NA 4 88 0 0 0.000602 0 0 TLL1 7092 broad.mit.edu 37 4 166924542 166924542 + Splice_Site SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr4:166924542G>C uc003irh.1 + 6 1280 c.633_splice c.e6-1 p.G211_splice TLL1_uc011cjn.1_Splice_Site_p.G211_splice|TLL1_uc011cjo.1_Splice_Site_p.G35_splice NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTATTCCAGATGCTGCTCC 0.418 NA 7 52 0 0 0.004482 0 0 SEMA5A 9037 broad.mit.edu 37 5 9190395 9190395 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:9190395G>A uc003jek.2 - 11 1969 c.1257C>T c.(1255-1257)ATC>ATT p.I419I NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 419 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCAAATAGATGATGTGGACGA 0.498 NA 5 34 0 0 0.001168 0 0 CDH12 1010 broad.mit.edu 37 5 21752319 21752319 + Nonsense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:21752319G>A uc010iuc.2 - 12 2370 c.1912C>T c.(1912-1914)CGA>TGA p.R638* CDH12_uc011cno.1_Nonsense_Mutation_p.R598*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R638*|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 638 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TTCTGCCTTCGCAGTGCTACA 0.398 NA HNSCC(59;0.17) 9 48 0 0 0.000978 0 0 HCN1 348980 broad.mit.edu 37 5 45262226 45262226 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:45262226C>T uc003jok.2 - 8 2495 c.2470G>A c.(2470-2472)GGA>AGA p.G824R NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 824 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGGCCCGTTCCGGGGACCGCC 0.677 NA 4 36 0 0 0.000602 0 0 HCN1 348980 broad.mit.edu 37 5 45262359 45262359 + Silent SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:45262359C>A uc003jok.2 - 8 2362 c.2337G>T c.(2335-2337)CTG>CTT p.L779L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 779 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTTCCCGGGTCAGGTTGGTGT 0.582 NA 7 39 0.00307968 0.00346341 0.00308 1 0 DMGDH 29958 broad.mit.edu 37 5 78324334 78324334 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:78324334C>T uc003kfs.2 - 12 1960 c.1954G>A c.(1954-1956)GAT>AAT p.D652N DMGDH_uc011cte.1_Missense_Mutation_p.D502N|DMGDH_uc011ctf.1_Missense_Mutation_p.D451N|DMGDH_uc011ctg.1_Missense_Mutation_p.D272N NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 652 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTGAAAACATCATCACTAAGA 0.393 NA 11 84 0 0 0.008291 0 0 ERAP1 51752 broad.mit.edu 37 5 96126056 96126056 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:96126056A>T uc003kmm.2 - 10 1814 c.1467T>A c.(1465-1467)GAT>GAA p.D489E ERAP1_uc003kml.2_Missense_Mutation_p.D489E|ERAP1_uc010jbm.1_Missense_Mutation_p.D301E|ERAP1_uc003kmn.2_Missense_Mutation_p.D489E NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 489 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CTTTTACACCATCTGTAGGGC 0.363 NA 3 44 0 0 0.000602 0 0 HARS 3035 broad.mit.edu 37 5 140070834 140070834 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:140070834C>G uc003lgv.2 - 1 138 c.56G>C c.(55-57)CGA>CCA p.R19P HARS_uc011czm.1_Missense_Mutation_p.R19P|HARS_uc003lgw.2_Missense_Mutation_p.R19P|HARS_uc011czn.1_Missense_Mutation_p.R19P|HARS_uc010jfu.2_Missense_Mutation_p.R19P|HARS_uc011czo.1_Missense_Mutation_p.R19P|HARS_uc011czp.1_Missense_Mutation_p.R19P|HARS_uc011czq.1_Missense_Mutation_p.R19P|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.2_5'Flank|HARS2_uc011czr.1_5'Flank|HARS2_uc011czs.1_5'Flank|HARS2_uc011czt.1_5'Flank NM_002109 NP_002100 P12081 SYHC_HUMAN histidyl-tRNA synthetase 19 WHEP-TRS. histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CTTGAGGCCTCGCACGCGCTC 0.647 NA 3 23 0 0 0.004672 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255829 140255829 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:140255829G>A uc003lic.2 + 1 899 c.772G>A c.(772-774)GAC>AAC p.D258N 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_Missense_Mutation_p.D258N NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 258 Cadherin 3.|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) TGTCCAAAACGACACAAGAGT 0.418 Pancreas(113;759 1672 13322 24104 50104) NA 12 71 0 0 0.000978 0 0 NIPAL4 348938 broad.mit.edu 37 5 156890126 156890126 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:156890126C>A uc003lwx.3 + 2 364 c.248C>A c.(247-249)TCC>TAC p.S83Y ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.S83Y|NIPAL4_uc010jin.1_Missense_Mutation_p.P18T NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 83 Extracellular (Potential). integral to membrane receptor activity 0 CTCTACTGCTCCTCCCAAGAA 0.512 NA 9 78 1.58986e-06 1.99869e-06 0.008291 1 0 NPM1 4869 broad.mit.edu 37 5 170834751 170834751 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr5:170834751G>C uc011dex.1 + 11 954 c.819G>C c.(817-819)AAG>AAC p.K273N NPM1_uc003mbi.2_Missense_Mutation_p.K273N|NPM1_uc003mbj.2_Missense_Mutation_p.K244N NM_002520 NP_002511 P06748 NPM_HUMAN nucleophosmin 1 isoform 1 273 Required for nucleolar localization. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) haematopoietic_and_lymphoid_tissue(3109)|skin(1) 3110 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATTATGTGAAGAATTGCTTCC 0.373 NA T|F ALK|RARA|MLF1 NHL|APL|AML 8 34 0 0 0.004482 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045730 26045730 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:26045730C>T uc003nfv.2 + 1 92 c.92C>T c.(91-93)CCG>CTG p.P31L HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 31 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 AAGAGCGCTCCGGCCACCGGT 0.612 NA 7 72 0 0 0.001984 0 0 BTN3A1 11119 broad.mit.edu 37 6 26410240 26410240 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:26410240G>C uc003nhv.2 + 7 1312 c.944G>C c.(943-945)AGA>ACA p.R315T BTN3A1_uc011dkj.1_Missense_Mutation_p.R315T|BTN3A1_uc011dkk.1_Missense_Mutation_p.R263T|BTN3A1_uc010jqj.2_Missense_Mutation_p.R315T NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 315 Cytoplasmic (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 GCAGGATGGAGAAGTATCCAG 0.463 NA 6 177 0 0 0.001168 0 0 VARS2 57176 broad.mit.edu 37 6 30891283 30891283 + Splice_Site SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:30891283G>C uc003nsc.1 + 24 3098 c.2466_splice c.e24+1 p.L822_splice VARS2_uc011dmx.1_Splice_Site_p.L822_splice|VARS2_uc011dmy.1_Splice_Site_p.L682_splice|VARS2_uc011dmz.1_Splice_Site_p.L852_splice|VARS2_uc011dna.1_Splice_Site_p.L820_splice|VARS2_uc011dnb.1_Splice_Site|VARS2_uc011dnc.1_Splice_Site|VARS2_uc011dnd.1_Splice_Site_p.L260_splice|VARS2_uc010jsg.1_Splice_Site_p.L194_splice|VARS2_uc010jsh.1_5'UTR NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 CGTCTACCTGGTGAGTGAGGC 0.547 NA 9 66 0 0 0.008291 0 0 CYP21A2 1589 broad.mit.edu 37 6 31975113 31975113 + Missense_Mutation SNP G G C rs62402680 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:31975113G>C uc010jtp.2 + 8 924 c.806G>C c.(805-807)AGC>ACC p.S269T CYP21A2_uc011dpb.1_Missense_Mutation_p.S239T P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 268 S->C,M,T: No loss of function. glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 GCGCAGCCGAGCATGGAAGAG 0.627 Melanoma(174;1669 1998 3915 34700 46447) NA 3 86 0 0 0.000248 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406331 33406331 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:33406331G>C uc011dri.1 + 9 1717 c.1522G>C c.(1522-1524)GAT>CAT p.D508H SYNGAP1_uc003oeo.1_Missense_Mutation_p.D493H|SYNGAP1_uc010juy.2_Missense_Mutation_p.D493H|SYNGAP1_uc010juz.2_Missense_Mutation_p.D220H NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 508 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 ATACCTCAAGGATGCCATTGG 0.522 NA 5 120 0 0 0.000602 0 0 PPARD 5467 broad.mit.edu 37 6 35388010 35388010 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:35388010C>G uc003okm.2 + 4 546 c.237C>G c.(235-237)GAC>GAG p.D79E PPARD_uc003okl.2_Missense_Mutation_p.D79E|PPARD_uc003okn.2_Missense_Mutation_p.D79E|PPARD_uc011dtb.1_Missense_Mutation_p.D40E|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_Intron NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 79 Nuclear receptor.|NR C4-type. D -> G (in Ref. 5; BAF84350). apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) TGTGCGGGGACAAGGCATCGG 0.652 NA 5 59 0 0 0.000602 0 0 C6orf138 442213 broad.mit.edu 37 6 47847083 47847083 + Silent SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:47847083C>A uc011dwm.1 - 3 1531 c.1446G>T c.(1444-1446)TCG>TCT p.S482S C6orf138_uc011dwn.1_Silent_p.S246S NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 499 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AAACACTTGGCGAATCACTGG 0.453 NA 18 23 0.00074312 0.000854831 0.006122 1 0 IL17A 3605 broad.mit.edu 37 6 52052547 52052547 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:52052547C>T uc003pak.1 + 2 219 c.174C>T c.(172-174)ACC>ACT p.T58T NM_002190 NP_002181 Q16552 IL17_HUMAN interleukin 17A precursor 58 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity 0 Lung NSC(77;0.116) ATACCAATACCAATCCCAAAA 0.453 NA 17 141 0 0 0.004007 0 0 DST 667 broad.mit.edu 37 6 56458704 56458704 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:56458704C>A uc003pdf.2 - 42 6154 c.6126G>T c.(6124-6126)GAG>GAT p.E2042D DST_uc003pcz.3_Missense_Mutation_p.E1864D|DST_uc011dxj.1_Missense_Mutation_p.E1893D|DST_uc011dxk.1_Missense_Mutation_p.E1904D|DST_uc003pcy.3_Missense_Mutation_p.E1538D|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3950 Spectrin 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGCACCTGCCTCCAGGTTTT 0.413 NA 13 116 0.00136819 0.00155356 0.001368 1 0 NUDT1 4521 broad.mit.edu 37 7 2289541 2289541 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:2289541G>A uc003slp.1 + 4 373 c.271G>A c.(271-273)GGC>AGC p.G91S NUDT1_uc003slq.1_Missense_Mutation_p.G68S|NUDT1_uc003slr.1_Missense_Mutation_p.G68S|NUDT1_uc003sls.1_Missense_Mutation_p.G91S|NUDT1_uc003slt.1_Missense_Mutation_p.G68S|NUDT1_uc003slu.1_Missense_Mutation_p.G91S|NUDT1_uc003slv.1_Missense_Mutation_p.G68S NM_198949 NP_945187 P36639 8ODP_HUMAN nudix-type motif 1 isoform p22 109 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding 0 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GCACAAGGTGGGCCAGATCGT 0.652 NA Direct_reversal_of_damage|Modulation_of_nucleotide_pools 14 86 0 0 0.003163 0 0 CARD11 84433 broad.mit.edu 37 7 2984046 2984046 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:2984046C>T uc003smv.2 - 5 888 c.484G>A c.(484-486)GAG>AAG p.E162K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 162 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCTTCTTCTCATCCTCCAGC 0.577 NA Mis DLBCL 8 112 0 0 0.006214 0 0 FKBP14 55033 broad.mit.edu 37 7 30058645 30058645 + Silent SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:30058645A>G uc003tal.1 - 3 588 c.444T>C c.(442-444)GAT>GAC p.D148D FKBP14_uc010kvq.1_RNA NM_017946 NP_060416 Q9NWM8 FKB14_HUMAN FK506 binding protein 14 precursor 148 EF-hand 1.|1 (Potential). protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 CATCATTAAGATCCATTTCTT 0.363 NA 8 53 0 0 0.004482 0 0 FAM188B 84182 broad.mit.edu 37 7 30915236 30915236 + Missense_Mutation SNP T T G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:30915236T>G uc003tbt.2 + 15 2013 c.1936T>G c.(1936-1938)TTC>GTC p.F646V FAM188B_uc010kwe.2_Missense_Mutation_p.F617V|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.F166V NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 646 0 TGATATTGGCTTCTTATCTCT 0.498 NA 22 105 0 0 0.00278 0 0 NT5C3 51251 broad.mit.edu 37 7 33057183 33057183 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:33057183G>A uc003tdk.2 - 7 653 c.576C>T c.(574-576)CTC>CTT p.L192L AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.L153L|NT5C3_uc003tdj.2_Silent_p.L153L NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 192 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding p.L192H(1) ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) TATGTTGTTGGAGCTTATCAA 0.373 NA 35 42 0 0 0.004878 0 0 NPSR1 387129 broad.mit.edu 37 7 34867158 34867159 + Missense_Mutation DNP CC CC AA TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:34867158_34867159CC>AA uc003teg.1 + 5 752_753 c.624_625CC>AA c.(622-627)ACCCCA>ACAACA p.P209T AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.P209T|NPSR1_uc010kwt.1_Missense_Mutation_p.P56T|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.P143T|NPSR1_uc003tei.1_Missense_Mutation_p.P209T|NPSR1_uc010kww.1_Missense_Mutation_p.P198T|NPSR1_uc011kar.1_Missense_Mutation_p.P143T|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 209 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) CCTACTGGACCCCATACATGAC 0.574 NA 11 130 0 0 0.004672 0 0 CALN1 83698 broad.mit.edu 37 7 71252772 71252772 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:71252772G>T uc003twa.3 - 6 1175 c.648C>A c.(646-648)AGC>AGA p.S216R CALN1_uc003twb.3_Missense_Mutation_p.S258R|CALN1_uc003twc.3_Missense_Mutation_p.S216R NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 216 Extracellular (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ACTCCATGCCGCTCCGGAGTA 0.587 NA 9 24 0.000442599 0.000515877 0.006214 1 0 HGF 3082 broad.mit.edu 37 7 81372711 81372711 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:81372711C>A uc003uhl.2 - 7 988 c.823G>T c.(823-825)GAC>TAC p.D275Y HGF_uc003uhm.2_Missense_Mutation_p.D270Y|HGF_uc003uhn.1_Missense_Mutation_p.D275Y|HGF_uc003uho.1_Missense_Mutation_p.D270Y NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 275 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 GTGTGAGGGTCAAGAGTATAG 0.478 NA 16 38 4.7546e-09 6.24485e-09 0.004007 1 0 PCLO 27445 broad.mit.edu 37 7 82545902 82545902 + Nonsense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:82545902G>T uc003uhx.2 - 7 11689 c.11400C>A c.(11398-11400)TAC>TAA p.Y3800* PCLO_uc003uhv.2_Nonsense_Mutation_p.Y3800*|PCLO_uc010lec.2_Nonsense_Mutation_p.Y765* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3731 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCATTTCCAGGTATCGTAGCT 0.443 NA 14 67 1.05317e-09 1.39893e-09 0.00245 1 0 STAG3 10734 broad.mit.edu 37 7 99795408 99795408 + Missense_Mutation SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:99795408A>G uc003utx.1 + 11 1228 c.1073A>G c.(1072-1074)GAA>GGA p.E358G STAG3_uc010lgs.1_Missense_Mutation_p.E146G|STAG3_uc011kjk.1_Missense_Mutation_p.E300G|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 358 SCD. chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCACCGAGAAGTCCGCCTG 0.562 NA 10 111 0 0 0.000978 0 0 SRRT 51593 broad.mit.edu 37 7 100483532 100483532 + Silent SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:100483532A>G uc003uwy.2 + 13 1696 c.1428A>G c.(1426-1428)AAA>AAG p.K476K SRRT_uc010lhl.1_Silent_p.K475K|SRRT_uc003uxa.2_Silent_p.K475K|SRRT_uc003uwz.2_Silent_p.K476K NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 476 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TTAACATTAAAGAGATCTGTT 0.527 NA 13 105 0 0 0.001855 0 0 IRF5 3663 broad.mit.edu 37 7 128588302 128588302 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:128588302C>T uc003vog.2 + 9 1310 c.1189C>T c.(1189-1191)CCA>TCA p.P397S IRF5_uc003voh.2_Missense_Mutation_p.P381S|IRF5_uc010llt.2_Missense_Mutation_p.P305S|IRF5_uc003voi.2_Missense_Mutation_p.P381S|IRF5_uc003voj.3_Missense_Mutation_p.P381S NM_002200 NP_002191 Q13568 IRF5_HUMAN interferon regulatory factor 5 isoform a 391 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CAACACCCCACCACCCTTCGA 0.537 NA 28 87 0 0 0.00632 0 0 OR6V1 346517 broad.mit.edu 37 7 142749587 142749587 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:142749587C>T uc011ksv.1 + 1 150 c.150C>T c.(148-150)GAC>GAT p.D50D NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) TCATAGCTGACACCCACCTAC 0.502 NA 59 201 0 0 0.00361 0 0 ATG9B 285973 broad.mit.edu 37 7 150721177 150721177 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr7:150721177G>C uc011kvc.1 - 1 410 c.334C>G c.(334-336)CCC>GCC p.P112A ATG9B_uc003wig.3_5'Flank NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 112 Pro-rich.|Cytoplasmic (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCCAGGAGGGAGATGCAGAG 0.657 NA 3 19 0 0 0.004672 0 0 CSMD1 64478 broad.mit.edu 37 8 2808709 2808709 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:2808709G>T uc011kwk.1 - 66 10521 c.10131C>A c.(10129-10131)GAC>GAA p.D3377E CSMD1_uc011kwj.1_Missense_Mutation_p.D2691E|CSMD1_uc010lrg.2_Missense_Mutation_p.D1268E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3377 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATTGAACCAGTCAACAGTTA 0.473 NA 9 11 1.61879e-10 2.20006e-10 0.001368 1 0 PRKDC 5591 broad.mit.edu 37 8 48790322 48790322 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:48790322C>T uc003xqi.2 - 41 5383 c.5326G>A c.(5326-5328)GAA>AAA p.E1776K PRKDC_uc003xqj.2_Missense_Mutation_p.E1776K|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1776 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAAATAATTCTTCCATGACA 0.403 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 7 91 0 0 0.001984 0 0 RALYL 138046 broad.mit.edu 37 8 85441676 85441676 + Silent SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:85441676C>A uc003ycq.3 + 3 536 c.120C>A c.(118-120)GCC>GCA p.A40A RALYL_uc003ycr.3_Silent_p.A40A|RALYL_uc003ycs.3_Silent_p.A40A|RALYL_uc010lzy.2_Silent_p.A40A|RALYL_uc003yct.3_Silent_p.A53A NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 40 RRM. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 ACATTGAAGCCATTTTTTCAA 0.423 NA 18 24 6.49762e-13 8.93423e-13 0.006122 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885892 88885892 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:88885892G>T uc003ydz.2 - 1 405 c.308C>A c.(307-309)ACC>AAC p.T103N NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 103 ovary(1) 1 GCCTCGCATGGTGATGATGCC 0.542 NA 44 76 1.81118e-26 2.60219e-26 0.00361 1 0 TRPS1 7227 broad.mit.edu 37 8 116426524 116426524 + Silent SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:116426524T>C uc003ynz.2 - 6 4032 c.3573A>G c.(3571-3573)GTA>GTG p.V1191V TRPS1_uc011lhy.1_Silent_p.V1195V|TRPS1_uc003yny.2_Silent_p.V1204V|TRPS1_uc010mcy.2_Silent_p.V1191V NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1191 Transcriptional repressor domain (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTTCATTTTTTACATTTGGTG 0.423 NA Langer-Giedion_syndrome 13 42 0 0 0.001368 0 0 TRPS1 7227 broad.mit.edu 37 8 116631652 116631652 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:116631652G>T uc003ynz.2 - 2 1093 c.634C>A c.(634-636)CCG>ACG p.P212T TRPS1_uc011lhy.1_Missense_Mutation_p.P216T|TRPS1_uc003yny.2_Missense_Mutation_p.P225T|TRPS1_uc010mcy.2_Missense_Mutation_p.P212T NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 212 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGAGGTGCCGGGTCTGGGTTG 0.468 NA Langer-Giedion_syndrome 18 130 6.94344e-10 9.29313e-10 0.006122 1 0 TRPS1 7227 broad.mit.edu 37 8 116631786 116631786 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:116631786G>T uc003ynz.2 - 2 959 c.500C>A c.(499-501)GCA>GAA p.A167E TRPS1_uc011lhy.1_Missense_Mutation_p.A171E|TRPS1_uc003yny.2_Missense_Mutation_p.A180E|TRPS1_uc010mcy.2_Missense_Mutation_p.A167E NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 167 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACCACTCTGTGCTTGCCCTGT 0.502 NA Langer-Giedion_syndrome 4 101 0.000602214 0.000695015 0.000602 1 0 EIF2C2 27161 broad.mit.edu 37 8 141583013 141583013 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:141583013C>T uc003yvn.2 - 3 274 c.234G>A c.(232-234)ATG>ATA p.M78I EIF2C2_uc010men.2_Missense_Mutation_p.M1I|EIF2C2_uc010meo.2_Missense_Mutation_p.M78I NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 78 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) AGTGCTGGACCATGTGTTCCA 0.443 NA 5 64 0 0 0.001168 0 0 LYNX1 66004 broad.mit.edu 37 8 143857024 143857024 + Missense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr8:143857024C>G uc003yxc.1 - 3 411 c.141G>C c.(139-141)ATG>ATC p.M47I LYNX1_uc003yxb.2_Missense_Mutation_p.M47I|LYNX1_uc003yxd.1_Missense_Mutation_p.M47I|LYNX1_uc003yxe.1_Missense_Mutation_p.M47I NM_177476 NP_803429 Q9BZG9 LYNX1_HUMAN Ly-6 neurotoxin-like protein 1 isoform c 47 UPAR/Ly6. anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGCGCGTGGTCATGCAGTAGG 0.662 NA 4 13 0 0 0.000248 0 0 FAM154A 158297 broad.mit.edu 37 9 18928737 18928737 + Silent SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:18928737G>T uc003zni.1 - 4 1016 c.738C>A c.(736-738)GGC>GGA p.G246G FAM154A_uc010mip.1_Silent_p.G54G NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 246 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) CCCCCATCAGGCCCCGGTAGG 0.532 NA 20 36 2.94398e-08 3.7959e-08 0.007413 1 0 ACO1 48 broad.mit.edu 37 9 32436252 32436252 + Missense_Mutation SNP A A T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:32436252A>T uc003zqw.3 + 18 2259 c.2104A>T c.(2104-2106)ACT>TCT p.T702S ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.T702S|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 702 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TCTTAGCCTAACTCCACGAGA 0.408 NA 11 53 0 0 0.000978 0 0 LOC442421 442421 broad.mit.edu 37 9 66499680 66499680 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:66499680C>A uc004aee.1 + 1 490 c.490C>A c.(490-492)CCC>ACC p.P164T LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 TCATGTTAACCCCTTCCCAGG 0.582 NA 4 35 2.56e-06 3.18417e-06 0.000248 1 0 C9orf79 286234 broad.mit.edu 37 9 90502131 90502131 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:90502131G>A uc004app.3 + 4 2764 c.2729G>A c.(2728-2730)AGC>AAC p.S910N C9orf79_uc004apo.1_Missense_Mutation_p.S722N NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 910 integral to membrane ovary(3) 3 AGAACAACAAGCAAGTCAGTC 0.597 NA 7 40 0 0 0.00308 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536166 90536166 + Silent SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:90536166C>T uc010mqi.2 + 4 1373 c.1344C>T c.(1342-1344)AAC>AAT p.N448N FAM75C1_uc004apq.3_Silent_p.N431N NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 TGCCTGAGAACTTTCCAGTCA 0.493 NA 17 98 0 0 0.00333 0 0 PHF2 5253 broad.mit.edu 37 9 96421880 96421880 + Nonsense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:96421880G>T uc004aub.2 + 11 1474 c.1327G>T c.(1327-1329)GAG>TAG p.E443* PHF2_uc011lug.1_Nonsense_Mutation_p.E326* NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 443 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCGGCTCAGTGAGGTGGGGCC 0.617 NA 12 14 3.03607e-14 4.24086e-14 0.001368 1 0 PTCH1 5727 broad.mit.edu 37 9 98241374 98241374 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:98241374G>A uc004avk.3 - 8 1311 c.1123C>T c.(1123-1125)CAC>TAC p.H375Y PTCH1_uc010mro.2_Missense_Mutation_p.H224Y|PTCH1_uc010mrp.2_Missense_Mutation_p.H224Y|PTCH1_uc010mrq.2_Missense_Mutation_p.H224Y|PTCH1_uc004avl.3_Missense_Mutation_p.H224Y|PTCH1_uc010mrr.2_Missense_Mutation_p.H309Y|PTCH1_uc004avm.3_Missense_Mutation_p.H374Y|PTCH1_uc010mrs.1_Missense_Mutation_p.H95Y NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 375 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCCTTGAAGTGCTCGTACATT 0.537 NA Basal_Cell_Nevus_syndrome 9 51 0 0 0.006214 0 0 OR13C8 138802 broad.mit.edu 37 9 107331812 107331812 + Missense_Mutation SNP C C T rs79042036 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:107331812C>T uc011lvo.1 + 1 364 c.364C>T c.(364-366)CGC>TGC p.R122C NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGCACTGGACCGCTATGTGGC 0.527 NA 16 62 0 0 0.004007 0 0 OR13C5 138799 broad.mit.edu 37 9 107361392 107361392 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:107361392C>T uc011lvp.1 - 1 303 c.303G>A c.(301-303)ATG>ATA p.M101I NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 AGCTGAGGAACATCTGCACTG 0.517 NA 8 110 0 0 0.008291 0 0 SVEP1 79987 broad.mit.edu 37 9 113194760 113194760 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:113194760C>T uc010mtz.2 - 31 5552 c.5215G>A c.(5215-5217)GTT>ATT p.V1739I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1739 Sushi 6. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GATGGTGAAACGCCGTTCCAG 0.443 NA 16 61 0 0 0.006122 0 0 C9orf84 158401 broad.mit.edu 37 9 114454670 114454670 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:114454670G>A uc004bfr.2 - 25 3530 c.3395C>T c.(3394-3396)GCT>GTT p.A1132V C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.A1093V|C9orf84_uc010mug.2_Missense_Mutation_p.A1043V NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 1132 ovary(2) 2 TAAATCAGAAGCTGAACTTTG 0.358 NA 7 35 0 0 0.001984 0 0 ZNF883 169834 broad.mit.edu 37 9 115760036 115760036 + Silent SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:115760036T>C uc011lwy.1 - 5 1743 c.504A>G c.(502-504)CTA>CTG p.L168L NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 168 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GATGTTCAATTAGGTGTGTGC 0.403 NA 4 42 0 0 0.000248 0 0 ZNF618 114991 broad.mit.edu 37 9 116779005 116779005 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:116779005G>T uc004bid.2 + 10 884 c.785G>T c.(784-786)GGC>GTC p.G262V ZNF618_uc004bib.1_Missense_Mutation_p.G230V|ZNF618_uc004bic.2_Missense_Mutation_p.G250V|ZNF618_uc011lxi.1_Missense_Mutation_p.G230V|ZNF618_uc011lxj.1_Missense_Mutation_p.G230V NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 262 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAATTCTGCGGCAAACAGTAC 0.552 NA 4 22 0.000602214 0.000695015 0.000602 1 0 AMBP 259 broad.mit.edu 37 9 116824992 116824992 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:116824992C>T uc004bie.3 - 7 913 c.650G>A c.(649-651)GGT>GAT p.G217D AMBP_uc011lxk.1_Missense_Mutation_p.G158D|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 217 Glycopeptide (secretory piece). cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CAGTTGCCCACCCCCTGATCC 0.542 NA 17 66 0 0 0.007413 0 0 STXBP1 6812 broad.mit.edu 37 9 130430376 130430376 + Missense_Mutation SNP T T C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:130430376T>C uc004brl.2 + 10 1009 c.812T>C c.(811-813)ATC>ACC p.I271T STXBP1_uc004brk.2_Missense_Mutation_p.I271T NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 271 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 ACCAGCGGCATCGGGGAGGCA 0.587 NA 11 34 0 0 0.001368 0 0 TLR8 51311 broad.mit.edu 37 X 12937480 12937480 + Silent SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:12937480C>A uc004cve.2 + 2 389 c.321C>A c.(319-321)CCC>CCA p.P107P TLR8_uc004cvd.2_Silent_p.P125P NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 107 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 ACGGAAATCCCGGTATACAAT 0.408 NA 19 101 6.94344e-10 9.29313e-10 0.006122 1 0 RS1 6247 broad.mit.edu 37 X 18665334 18665334 + Silent SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:18665334G>T uc004cyo.2 - 4 338 c.303C>A c.(301-303)GCC>GCA p.A101A CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein 101 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) TGTTGAGCCGGGCCTTGTTTG 0.468 NA 15 56 2.62699e-14 3.68406e-14 0.003163 1 0 NONO 4841 broad.mit.edu 37 X 70511691 70511691 + Nonsense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:70511691C>T uc004dzo.2 + 5 927 c.217C>T c.(217-219)CGA>TGA p.R73* BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.R73*|NONO_uc004dzp.2_Nonsense_Mutation_p.R73*|NONO_uc011mpv.1_Translation_Start_Site|NONO_uc004dzq.2_5'Flank NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 73 DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) CTTCACCCAACGAAGCCGTCT 0.428 NA T TFE3 papillary renal cancer 4 31 0 0 0.000248 0 0 ATRX 546 broad.mit.edu 37 X 76938254 76938254 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:76938254C>A uc004ecp.3 - 9 2726 c.2494G>T c.(2494-2496)GGT>TGT p.G832C ATRX_uc004ecq.3_Missense_Mutation_p.G794C|ATRX_uc004eco.3_Missense_Mutation_p.G617C|ATRX_uc004ecr.2_Missense_Mutation_p.G764C|ATRX_uc010nlx.1_Missense_Mutation_p.G803C|ATRX_uc010nly.1_Missense_Mutation_p.G777C NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 832 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CTGGcagcaccaattttactc 0.224 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 11 185 0.000978159 0.0011179 0.000978 1 0 TEX13B 56156 broad.mit.edu 37 X 107224449 107224449 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:107224449C>T uc004enn.1 - 3 893 c.800G>A c.(799-801)TGT>TAT p.C267Y NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 267 ovary(1) 1 GGGAGCTGGACAGGAAGAGGC 0.537 NA 21 127 0 0 0.001882 0 0 TRPC5 7224 broad.mit.edu 37 X 111078148 111078148 + Splice_Site SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:111078148C>T uc004epl.1 - 7 2815 c.1896_splice c.e7+1 p.A632_splice TRPC5_uc004epm.1_Splice_Site_p.A632_splice NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AAGCTACTCACGGCAATAAGC 0.448 NA 29 127 0 0 0.00632 0 0 NDUFA1 4694 broad.mit.edu 37 X 119007299 119007299 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:119007299G>C uc004esc.3 + 2 276 c.135G>C c.(133-135)TGG>TGC p.W45C RNF113A_uc004esb.2_5'Flank NM_004541 NP_004532 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 45 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1) 1 NADH(DB00157) GGTATCACTGGAGTCTGATGG 0.408 NA 10 52 0 0 0.001368 0 0 STAG2 10735 broad.mit.edu 37 X 123179212 123179212 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:123179212C>A uc004etz.3 + 7 1000 c.661C>A c.(661-663)CTG>ATG p.L221M STAG2_uc004eua.2_Missense_Mutation_p.L221M|STAG2_uc004eub.2_Missense_Mutation_p.L221M|STAG2_uc004euc.2_Missense_Mutation_p.L221M|STAG2_uc004eud.2_Missense_Mutation_p.L221M|STAG2_uc004eue.2_Missense_Mutation_p.L221M NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 221 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TACAAGCACCCTGGCAGGTCG 0.328 NA 20 99 1.96292e-10 2.65749e-10 0.001523 1 0 FAM45B 55855 broad.mit.edu 37 X 129629658 129629658 + Missense_Mutation SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:129629658G>A uc010nrh.2 + 1 744 c.526G>A c.(526-528)GCA>ACA p.A176T uc004evu.2_Intron NM_207009 NP_996892 hypothetical protein LOC404636 skin(1) 1 all cancers(201;0.0293) CTTACACACAGCACTGATGCT 0.483 NA 11 46 0 0 0.003163 0 0 GPR112 139378 broad.mit.edu 37 X 135455108 135455108 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:135455108G>T uc004ezu.1 + 15 7952 c.7661G>T c.(7660-7662)GGG>GTG p.G2554V GPR112_uc010nsb.1_Missense_Mutation_p.G2349V NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2554 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GAGTTTTCTGGGCAGATAGCA 0.488 NA 7 222 0.00198382 0.00224535 0.001984 1 0 F9 2158 broad.mit.edu 37 X 138643931 138643931 + Missense_Mutation SNP G G C TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:138643931G>C uc004fas.1 + 8 1116 c.1087G>C c.(1087-1089)GGG>CGG p.G363R F9_uc004fat.1_Missense_Mutation_p.G325R NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 363 Peptidase S1. G -> W (in HEMB). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CTTCCACAAAGGGAGATCAGC 0.428 NA 5 96 0 0 0.000602 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995417 140995417 + Missense_Mutation SNP C C A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:140995417C>A uc004fbt.2 + 4 2513 c.2227C>A c.(2227-2229)CCT>ACT p.P743T MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 743 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGAGTCCTGTGAGTAT 0.557 NA HNSCC(15;0.026) 48 202 8.00217e-19 1.13579e-18 0.00361 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291161 141291161 + Missense_Mutation SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:141291161A>G uc004fbu.1 - 3 961 c.613T>C c.(613-615)TTC>CTC p.F205L NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 205 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AACACACAGAAGTGGTCAGGG 0.478 NA HNSCC(46;0.14) 27 120 0 0 0.003954 0 0 FLNA 2316 broad.mit.edu 37 X 153577354 153577355 + Nonsense_Mutation DNP CC CC AA TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:153577354_153577355CC>AA uc004fkk.2 - 48 8055_8056 c.7806_7807GG>TT c.(7804-7809)GAGGAG>GATTAG p.2602_2603EE>D* FLNA_uc004fki.2_Nonsense_Mutation_p.642_643EE>D*|FLNA_uc011mzn.1_Nonsense_Mutation_p.735_736EE>D*|FLNA_uc010nuu.1_Nonsense_Mutation_p.2594_2595EE>D* NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2602_2603 Self-association site, tail.|Filamin 24. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCAGGATCTCCTCGCAGGGGG 0.634 NA 9 26 0 0 0.004672 0 0 BRCC3 79184 broad.mit.edu 37 X 154348404 154348404 + Silent SNP A A G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chrX:154348404A>G uc004fna.2 + 11 1023 c.930A>G c.(928-930)CAA>CAG p.Q310Q BRCC3_uc004fnb.2_Silent_p.Q285Q NM_024332 NP_077308 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 310 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(3)|ovary(1)|large_intestine(1)|breast(1) 6 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGCTTATGCAAGAACTTTCTT 0.418 NA 11 49 0 0 0.001855 0 0 HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr1:154245864_154245866delGAA uc001fes.2 + 2 267_269 c.106_108delGAA c.(106-108)GAAdel p.E40del HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 NA Kostmann_syndrome 7 85 --- --- --- --- NA NA NA NA NA HTR3A 3359 broad.mit.edu 37 11 113857333 113857333 + Frame_Shift_Del DEL C C - TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr11:113857333delC uc010rxb.1 + 7 1050 c.817delC c.(817-819)CCCfs p.P273fs HTR3A_uc010rxa.1_Frame_Shift_Del_p.P273fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.P252fs NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 267 Helical; Name=1; (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CTTCTACCTGCCCCCCAACAG 0.592 NA 8 45 --- --- --- --- NA NA NA NA NA ZNF208 7757 broad.mit.edu 37 19 22154074 22154074 + Frame_Shift_Del DEL T T - TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:22154074delT uc002nqp.2 - 6 3527 c.3378delA c.(3376-3378)AAAfs p.K1126fs ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTCTTCACATTTGTAGGGTT 0.383 NA 13 42 --- --- --- --- NA NA NA NA NA MED25 81857 broad.mit.edu 37 19 50333452 50333452 + Frame_Shift_Del DEL C C - TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr19:50333452delC uc002ppw.1 + 7 849 c.796delC c.(796-798)CCCfs p.P266fs MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_Frame_Shift_Del_p.P47fs NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 266 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCAGCCTCTGCCCCCCGTCCC 0.662 GBM(51;894 1657 37868) NA 16 21 --- --- --- --- NA NA NA NA NA NDUFA6 4700 broad.mit.edu 37 22 42486758 42486758 + Frame_Shift_Del DEL G G - TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr22:42486758delG uc003bcb.2 - 1 131 c.69delC c.(67-69)TGCfs p.C23fs uc003bcc.1_5'Flank|uc003bcd.1_5'Flank NM_002490 NP_002481 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 23 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) TCTTGCCAAAGCATCCACTCC 0.612 NA OREG0026602 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 165 --- --- --- --- NA NA NA NA NA HLA-A 3105 broad.mit.edu 37 6 29911171 29911171 + Frame_Shift_Del DEL G G - TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr6:29911171delG uc003nol.2 + 3 470 c.470delG c.(469-471)TGGfs p.W157fs HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Del_p.W36fs|HLA-A_uc003nok.2_Frame_Shift_Del_p.W36fs|HLA-A_uc003non.2_Frame_Shift_Del_p.W157fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.W157fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.W157fs|HLA-A_uc003nom.2_Frame_Shift_Del_p.W36fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.W129fs|HLA-A_uc011dmc.1_Frame_Shift_Del_p.W36fs|HLA-A_uc011dmd.1_Frame_Shift_Del_p.W36fs NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 157 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTGCGCTCTTGGACCGCGGCG 0.677 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 9 67 --- --- --- --- NA NA NA NA NA FOXD4L5 653427 broad.mit.edu 37 9 70177785 70177785 + Frame_Shift_Del DEL C C - TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a16e4263-6135-4ce4-929a-5e98395fa60a fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83 g.chr9:70177785delC uc010moc.2 - 1 1031 c.199delG c.(199-201)GTTfs p.V67fs NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 67 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GGAAGCGCAACCCCGCCCCAC 0.567 NA 7 113 --- --- --- --- NA NA NA NA NA