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 ZEB1 6935 broad.mit.edu 37 10 31810592 31810592 + Missense_Mutation SNP C C G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr10:31810592C>G uc001ivs.3 + 7 2392 c.2329C>G c.(2329-2331)CCA>GCA p.P777A ZEB1_uc001ivr.3_Missense_Mutation_p.P559A|ZEB1_uc010qee.1_Missense_Mutation_p.P559A|ZEB1_uc010qef.1_Missense_Mutation_p.P559A|ZEB1_uc009xlj.1_Missense_Mutation_p.P703A|ZEB1_uc010qeg.1_Missense_Mutation_p.P636A|ZEB1_uc009xlk.1_Missense_Mutation_p.P559A|ZEB1_uc001ivt.3_Missense_Mutation_p.P559A|ZEB1_uc001ivu.3_Missense_Mutation_p.P778A|ZEB1_uc001ivv.3_Missense_Mutation_p.P757A|ZEB1_uc010qeh.1_Missense_Mutation_p.P710A|ZEB1_uc009xlo.1_Missense_Mutation_p.P760A|ZEB1_uc009xlp.2_Missense_Mutation_p.P761A NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 777 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) AAAAAAGGAGCCACAAAAGGA 0.423 Ovarian(40;423 959 14296 36701 49589) NA 12 53 0 0 0.013537 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr10:37431050G>C uc001iza.1 + 7 1156 c.1057G>C c.(1057-1059)GCA>CCA p.A353P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGGCAGCAAAAGG 0.408 NA 3 34 0 0 0.009096 0 0 GLB1L3 112937 broad.mit.edu 37 11 134158730 134158730 + Silent SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr11:134158730G>A uc009zdf.2 + 7 1035 c.675G>A c.(673-675)GAG>GAA p.E225E GLB1L3_uc010scs.1_Silent_p.E225E|GLB1L3_uc010sct.1_Silent_p.E77E NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 225 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TGCAAGTGGAGAATGAGTATG 0.502 NA 5 26 0 0 0.02938 0 0 LOC100288778 100288778 broad.mit.edu 37 12 90862 90862 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:90862C>T uc010scy.1 + 10 1283 c.728C>T c.(727-729)TCC>TTC p.S243F LOC100288778_uc010scz.1_RNA|LOC100288778_uc010sdd.1_3'UTR|LOC100288778_uc010sde.1_Missense_Mutation_p.S243F|LOC100288778_uc010sdf.1_Missense_Mutation_p.S243F|LOC100288778_uc010sdg.1_Missense_Mutation_p.S243F|LOC100288778_uc010sdh.1_RNA SubName: Full=Actin nucleation promoting factor; Flags: Fragment; 0 GTGTCAGACTCCATCCCTCCT 0.647 NA 5 14 0 0 0.014758 0 0 KCNA5 3741 broad.mit.edu 37 12 5154827 5154827 + Missense_Mutation SNP T T C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:5154827T>C uc001qni.2 + 1 1743 c.1514T>C c.(1513-1515)GTC>GCC p.V505A NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 505 Helical; Name=Segment S6; (Potential). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 ATCGCCGGGGTCCTCACCATT 0.607 NA 8 59 0 0 0.008291 0 0 WBP11 51729 broad.mit.edu 37 12 14947586 14947586 + Silent SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:14947586A>G uc001rci.2 - 7 767 c.606T>C c.(604-606)CCT>CCC p.P202P NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 202 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 GACCAGGGGGAGGGCCAGGAG 0.512 NA 4 114 0 0 0.009096 0 0 IL26 55801 broad.mit.edu 37 12 68619484 68619484 + Missense_Mutation SNP A A T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:68619484A>T uc001stx.1 - 1 88 c.53T>A c.(52-54)CTT>CAT p.L18H NM_018402 NP_060872 Q9NPH9 IL26_HUMAN interleukin 26 precursor 18 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) GGCAATGGCAAGAGACAGAGT 0.483 NA 25 96 0 0 0.030593 0 0 DRAM1 55332 broad.mit.edu 37 12 102315025 102315025 + Missense_Mutation SNP A A G rs61748066 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:102315025A>G uc001tix.2 + 7 1167 c.704A>G c.(703-705)AAT>AGT p.N235S DRAM1_uc010svv.1_Missense_Mutation_p.N125S NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 235 apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 ACAGAAATCAATGGTGATATT 0.388 NA 14 76 0 0 0.043863 0 0 Unknown 0 broad.mit.edu 37 15 102294648 102294648 + Missense_Mutation SNP T T C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr15:102294648T>C uc010usj.1 + 5 535 c.476T>C c.(475-477)CTG>CCG p.L159P uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA TTCTCAGAGCTGCTGTCCAAC 0.587 NA 4 34 0 0 0.021553 0 0 Unknown 0 broad.mit.edu 37 15 102294651 102294651 + Missense_Mutation SNP T T G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr15:102294651T>G uc010usj.1 + 5 538 c.479T>G c.(478-480)CTG>CGG p.L160R uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA TCAGAGCTGCTGTCCAACCTG 0.587 NA 3 35 0 0 0.021553 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943638 9943638 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr16:9943638G>A uc002czo.3 - 5 1851 c.1303C>T c.(1303-1305)CCA>TCA p.P435S GRIN2A_uc010uym.1_Missense_Mutation_p.P435S|GRIN2A_uc010uyn.1_Missense_Mutation_p.P278S|GRIN2A_uc002czr.3_Missense_Mutation_p.P435S NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 435 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCCGACATGGCACGGTGTTC 0.512 NA 3 115 0 0 0.004672 0 0 SKA1 220134 broad.mit.edu 37 18 47911673 47911673 + Missense_Mutation SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr18:47911673T>A uc002let.2 + 5 583 c.399T>A c.(397-399)AGT>AGA p.S133R SKA1_uc002leu.2_Missense_Mutation_p.S133R|SKA1_uc010xdl.1_Intron NM_145060 NP_659497 Q96BD8 SKA1_HUMAN spindle and KT associated 1 133 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 AGCAAAGAAGTATTAAGGAAA 0.348 NA 3 29 0 0 0.009096 0 0 ZNF208 7757 broad.mit.edu 37 19 22155850 22155850 + Silent SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:22155850C>T uc002nqp.2 - 5 1835 c.1686G>A c.(1684-1686)GAG>GAA p.E562E 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) TGTAGGGCTTCTCTCCAGCAT 0.383 NA 4 42 0 0 0.009096 0 0 ZNF208 7757 broad.mit.edu 37 19 22155934 22155934 + Silent SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:22155934C>T uc002nqp.2 - 5 1751 c.1602G>A c.(1600-1602)GAG>GAA p.E534E 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) TGTAGGGCTTCTCTCCAGCAT 0.398 NA 3 69 0 0 0.009096 0 0 DPF1 8193 broad.mit.edu 37 19 38704349 38704349 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:38704349G>A uc002ohl.2 - 9 922 c.895C>T c.(895-897)CGG>TGG p.R299W DPF1_uc002ohm.2_Missense_Mutation_p.R343W|DPF1_uc002ohn.2_Missense_Mutation_p.R261W|DPF1_uc010xtu.1_Missense_Mutation_p.R317W|DPF1_uc010xtv.1_Missense_Mutation_p.R317W NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 299 PHD-type 1. induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGTAGGTCCGCACGGCTGCC 0.667 NA 3 103 0 0 0.004672 0 0 PSG8 440533 broad.mit.edu 37 19 43258606 43258606 + Silent SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:43258606T>A uc002ouo.2 - 5 1220 c.1122A>T c.(1120-1122)CTA>CTT p.L374L PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.L213L|PSG8_uc002ouh.2_Silent_p.L374L|PSG8_uc010ein.2_Silent_p.L252L|PSG8_uc002ouj.3_Silent_p.L156L|PSG8_uc002ouk.3_Silent_p.L213L|PSG8_uc002oul.3_Silent_p.L374L|PSG8_uc002oum.3_Silent_p.L281L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.L281L NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 374 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) TTTGTCCTGATAGCTGAAACT 0.463 NA 21 212 0 0 0.030593 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:49926533G>C uc002pnn.1 - 1 166 c.64C>G c.(64-66)CTG>GTG p.L22V NM_178449 NP_848544 Q96A98 TIP39_HUMAN parathyroid hormone 2 preproprotein 22 neuropeptide signaling pathway extracellular region 0 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.597 NA 3 25 0 0 0.009096 0 0 ID2 3398 broad.mit.edu 37 2 8822342 8822342 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:8822342C>T uc010yiu.1 + 3 542 c.47C>T c.(46-48)TCG>TTG p.S16L ID2_uc002qza.2_Missense_Mutation_p.S16L NM_002166 NP_002157 Q02363 ID2_HUMAN inhibitor of DNA binding 2 16 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AACAGCCTGTCGGACCACAGC 0.597 NA 5 39 0 0 0.02938 0 0 TTN 7273 broad.mit.edu 37 2 179592542 179592542 + Missense_Mutation SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:179592542T>A uc010zfg.1 - 65 16255 c.16031A>T c.(16030-16032)GAT>GTT p.D5344V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2005V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6271 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) CACTGTAGAATCAGGTATGGC 0.353 NA 8 22 0 0 0.006214 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20600000 20600000 + Missense_Mutation SNP A A C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr20:20600000A>C uc002wrz.2 - 12 1603 c.1460T>G c.(1459-1461)TTC>TGC p.F487C RALGAPA2_uc010gcx.2_Missense_Mutation_p.F191C|RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 487 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGCACTTGTGAAGGAGTATGT 0.483 NA 3 13 0 0 0.004672 0 0 MYT1 4661 broad.mit.edu 37 20 62839705 62839705 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr20:62839705G>A uc002yii.2 + 7 1520 c.1156G>A c.(1156-1158)GCC>ACC p.A386T MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.A18T NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 386 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCAGGCCATCGCCCTGAAGGC 0.662 GBM(59;481 1041 20555 21139 33705) NA 9 32 0 0 0.016723 0 0 ITSN1 6453 broad.mit.edu 37 21 35147397 35147397 + Silent SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr21:35147397A>G uc002yta.1 + 14 1849 c.1581A>G c.(1579-1581)CTA>CTG p.L527L DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.L527L|ITSN1_uc010gmg.2_Silent_p.L490L|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.L527L|ITSN1_uc010gmi.2_Silent_p.L490L|ITSN1_uc010gmj.2_Silent_p.L411L|ITSN1_uc002ysy.2_Silent_p.L527L|ITSN1_uc002ysx.2_Silent_p.L490L|ITSN1_uc002ytb.1_Silent_p.L527L|ITSN1_uc002ytc.1_Silent_p.L527L|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.L490L|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.L527L|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.L461L NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 527 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TCACCCATCTACAGCAACAAT 0.333 NA 6 34 0 0 0.02938 0 0 RRP1 8568 broad.mit.edu 37 21 45220445 45220445 + Silent SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr21:45220445C>T uc002zds.2 + 10 1032 c.939C>T c.(937-939)CGC>CGT p.R313R RRP1_uc011aez.1_Silent_p.R313R|RRP1_uc010gpk.1_Silent_p.R163R|RRP1_uc010gpl.1_Silent_p.R211R|RRP1_uc010gpm.1_Silent_p.R180R NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 313 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGGCCAGCCGCCAGAGCACCC 0.552 NA 4 24 0 0 0.014758 0 0 ZNF74 7625 broad.mit.edu 37 22 20760303 20760303 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr22:20760303C>T uc010gsm.2 + 6 1192 c.980C>T c.(979-981)ACG>ATG p.T327M ZNF74_uc002zsg.2_Missense_Mutation_p.T256M|ZNF74_uc002zsh.2_Missense_Mutation_p.T327M|ZNF74_uc002zsi.2_Missense_Mutation_p.T256M|ZNF74_uc010gsn.2_Missense_Mutation_p.T256M NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 327 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGCATCCACACGGGCGAGCGG 0.672 NA 7 38 0 0 0.038147 0 0 SCN10A 6336 broad.mit.edu 37 3 38798590 38798590 + Silent SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:38798590G>C uc003ciq.2 - 8 1011 c.1011C>G c.(1009-1011)ACC>ACG p.T337T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 337 I. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AATCAAAGCTGGTGTAGTTAA 0.498 NA 9 39 0 0 0.008291 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454284 48454284 + Missense_Mutation SNP C C G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:48454284C>G uc003csw.2 - 25 4991 c.4721G>C c.(4720-4722)AGG>ACG p.R1574T PLXNB1_uc003cst.2_Missense_Mutation_p.R24T|PLXNB1_uc003csu.2_Missense_Mutation_p.R1391T|PLXNB1_uc003csx.2_Missense_Mutation_p.R1574T NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1574 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAAGAAGATCCTCTCCGCATA 0.612 NA 8 71 0 0 0.004482 0 0 FRYL 285527 broad.mit.edu 37 4 48622705 48622705 + Nonsense_Mutation SNP C C A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr4:48622705C>A uc003gyh.1 - 6 870 c.265G>T c.(265-267)GAA>TAA p.E89* FRYL_uc003gyk.2_Nonsense_Mutation_p.E89*|FRYL_uc003gyl.1_Nonsense_Mutation_p.E140*|FRYL_uc003gym.1_Nonsense_Mutation_p.E89* NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GATTCATCTTCCGTTCCATTT 0.428 NA 7 74 1.12685e-05 1.2771e-05 0.004482 1 0 ALPK1 80216 broad.mit.edu 37 4 113356393 113356393 + Nonsense_Mutation SNP A A T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr4:113356393A>T uc003iap.3 + 12 3403 c.3124A>T c.(3124-3126)AAA>TAA p.K1042* ALPK1_uc003ian.3_Nonsense_Mutation_p.K1042*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.K964*|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Nonsense_Mutation_p.K870* NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1042 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GACTGTGAAGAAAAAAGGCAG 0.348 NA 11 111 0 0 0.020292 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79733547 79733547 + Missense_Mutation SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr5:79733547G>C uc003kgr.3 + 4 1345 c.1043G>C c.(1042-1044)AGT>ACT p.S348T ZFYVE16_uc010jak.1_Missense_Mutation_p.S348T|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S348T|ZFYVE16_uc003kgq.3_Missense_Mutation_p.S348T|ZFYVE16_uc003kgs.3_Missense_Mutation_p.S348T NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 348 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) GACTCAAAAAGTTTAGACCTT 0.353 Melanoma(150;1452 1854 16018 17851 37292) NA 10 27 0 0 0.010729 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625619 140625619 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr5:140625619G>A uc003lje.2 + 1 473 c.473G>A c.(472-474)CGG>CAG p.R158Q NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 158 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAAAAGCTCGGGACTTGGAC 0.448 NA 3 38 0 0 0.009096 0 0 BTN2A2 10385 broad.mit.edu 37 6 26384103 26384103 + Silent SNP C C G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr6:26384103C>G uc003nhq.2 + 2 140 c.54C>G c.(52-54)CTC>CTG p.L18L BTN2A2_uc011dkf.1_Silent_p.L18L|BTN2A2_uc011dkg.1_Silent_p.L18L|BTN2A2_uc003nhr.2_Silent_p.L18L|BTN2A2_uc011dkh.1_Silent_p.L18L|BTN2A2_uc003nhs.2_Silent_p.L18L|BTN2A2_uc003nht.2_Silent_p.L18L NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 18 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 tcctcctcctcctgctcctcc 0.488 NA 3 70 0 0 0.009096 0 0 CD109 135228 broad.mit.edu 37 6 74497176 74497176 + Splice_Site SNP G G T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr6:74497176G>T uc003php.2 + 21 2981 c.2556_splice c.e21+1 p.K852_splice CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Splice_Site_p.K852_splice|CD109_uc010kba.2_Splice_Site_p.K775_splice NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TTTAGTAAAGGTAAATATTTG 0.378 NA 10 30 3.03607e-14 3.51908e-14 0.013537 1 0 PCLO 27445 broad.mit.edu 37 7 82763935 82763935 + Missense_Mutation SNP T T G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr7:82763935T>G uc003uhx.2 - 3 3220 c.2931A>C c.(2929-2931)CAA>CAC p.Q977H PCLO_uc003uhv.2_Missense_Mutation_p.Q977H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 923 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGGGTGGCCCTTGTGAAGTAG 0.507 NA 4 14 0 0 0.014758 0 0 DPYSL2 1808 broad.mit.edu 37 8 26441458 26441458 + Missense_Mutation SNP A A G rs113269672 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:26441458A>G uc003xfb.1 + 3 622 c.272A>G c.(271-273)CAA>CGA p.Q91R DPYSL2_uc003xfa.2_Missense_Mutation_p.Q196R|DPYSL2_uc011lag.1_Missense_Mutation_p.Q91R|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.Q55R NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 91 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GATTTCTTCCAAGGAACCAAG 0.498 NA 18 84 0 0 0.01892 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68140474 68140474 + Missense_Mutation SNP C C A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:68140474C>A uc003xxo.1 - 24 3796 c.3406G>T c.(3406-3408)GAT>TAT p.D1136Y ARFGEF1_uc003xxl.1_Missense_Mutation_p.D590Y|ARFGEF1_uc003xxn.1_Missense_Mutation_p.D119Y NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1136 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCATTTCCATCTAGCCTTGTA 0.308 NA 9 102 0.00829132 0.00919255 0.008291 1 0 TOP1MT 116447 broad.mit.edu 37 8 144406735 144406735 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:144406735C>T uc003yxz.2 - 6 755 c.736G>A c.(736-738)GTC>ATC p.V246I TOP1MT_uc011lkd.1_Missense_Mutation_p.V148I|TOP1MT_uc011lke.1_Missense_Mutation_p.V148I|TOP1MT_uc010mfb.2_Missense_Mutation_p.V148I|TOP1MT_uc011lkf.1_Missense_Mutation_p.V41I|TOP1MT_uc010mfd.1_Missense_Mutation_p.V41I NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 246 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGCCACGTGACGGTGTTATCG 0.592 NA 6 113 0 0 0.021553 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62944546 62944546 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrX:62944546G>A uc004dvl.2 - 2 894 c.55C>T c.(55-57)CAC>TAC p.H19Y ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_5'UTR|ARHGEF9_uc004dvm.1_5'UTR|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.H26Y NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 19 SH3. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 ATGGTGACGTGATCCCATACT 0.512 NA 3 38 0 0 0.009096 0 0 OGT 8473 broad.mit.edu 37 X 70775057 70775057 + Missense_Mutation SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrX:70775057T>A uc004eaa.1 + 7 963 c.746T>A c.(745-747)CTT>CAT p.L249H BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.L239H|OGT_uc004eac.2_Missense_Mutation_p.L110H|OGT_uc004ead.2_Intron NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 249 TPR 6. cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) GCAGCTTATCTTCGTGCCCTA 0.348 NA 3 16 0 0 0.004672 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449409 85449409 + Frame_Shift_Del DEL T T - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:85449409delT uc001tac.2 + 8 949 c.838delT c.(838-840)TTAfs p.L280fs LRRIQ1_uc001tab.1_Frame_Shift_Del_p.L280fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.L255fs NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 280 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AAATTCTTTGTTAAAACAGCA 0.274 NA 7 21 --- --- --- --- NA NA NA NA NA ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr17:73732157_73732158delGT uc002jpg.2 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)CAGTGTfs p.Q561fs ITGB4_uc002jph.2_Frame_Shift_Del_p.Q561fs|ITGB4_uc010dgo.2_Frame_Shift_Del_p.Q561fs|ITGB4_uc002jpi.3_Frame_Shift_Del_p.Q561fs|ITGB4_uc010dgp.1_Frame_Shift_Del_p.Q561fs|ITGB4_uc002jpj.2_Frame_Shift_Del_p.Q561fs|ITGB4_uc010wsh.1_Frame_Shift_Del_p.Q116fs NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 561_562 III.|Extracellular (Potential).|Cysteine-rich tandem repeats. C -> R (in EB-PA; mild form). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 NA 7 260 --- --- --- --- NA NA NA NA NA ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:197943383_197943384delTG uc002uub.2 - 16 1860_1861 c.1693_1694delCA c.(1693-1695)CATfs p.H565fs ANKRD44_uc002utz.3_Intron|ANKRD44_uc002uua.1_Intron|ANKRD44_uc010zgw.1_Frame_Shift_Del_p.H493fs NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.342 NA 4 6 --- --- --- --- NA NA NA NA NA GLT8D1 55830 broad.mit.edu 37 3 52730605 52730609 + Frame_Shift_Del DEL CCAAA CCAAA - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 CCAAA CCAAA - - CCAAA CCAAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:52730605_52730609delCCAAA uc003dfi.3 - 5 535_539 c.396_400delTTTGG c.(394-402)CTTTTGGAAfs p.L132fs GLT8D1_uc003dfj.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.L132fs NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 132_134 Lumenal (Potential). integral to membrane|mitochondrion transferase activity, transferring glycosyl groups 0 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACTTTTCCTTCCAAAAGTTTAGGGT 0.39 NA 7 30 --- --- --- --- NA NA NA NA NA WWC2 80014 broad.mit.edu 37 4 184182555 184182555 + Frame_Shift_Del DEL T T - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr4:184182555delT uc010irx.2 + 11 1961 c.1779delT c.(1777-1779)CATfs p.H593fs WWC2_uc003ivk.3_Frame_Shift_Del_p.H388fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.H275fs|WWC2_uc003ivn.3_Intron NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 593 ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TGAGTAGCCATTTTGCAGATA 0.448 NA 2 4 --- --- --- --- NA NA NA NA NA MTUS1 57509 broad.mit.edu 37 8 17611606 17611606 + Frame_Shift_Del DEL T T - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:17611606delT uc003wxv.2 - 2 2185 c.1711delA c.(1711-1713)ATTfs p.I571fs MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Frame_Shift_Del_p.I571fs|MTUS1_uc010lsz.2_Frame_Shift_Del_p.I571fs NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 571 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GTCTTGTTAATTAGAATTTCT 0.398 NA 42 198 --- --- --- --- NA NA NA NA NA ZNF367 195828 broad.mit.edu 37 9 99180258 99180259 + In_Frame_Ins INS - - GGC TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr9:99180258_99180259insGGC uc004awf.2 - 1 411_412 c.56_57insGCC c.(55-57)CCC>CCGCCC p.19_19P>PP ZNF367_uc004awg.2_In_Frame_Ins_p.19_19P>PP NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN zinc finger protein 367 19 Pro-rich. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0167) AGAAGATGACGggcggcggcgg 0.653 NA 6 7 --- --- --- --- NA NA NA NA NA