Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MTOR 2475 broad.mit.edu 37 1 11297982 11297982 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:11297982T>C uc001asd.2 - 13 2247 c.2126A>G c.(2125-2127)GAG>GGG p.E709G NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 709 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GATGGCCAGCTCCCGGATCTC 0.582 NA 12 33 0 0 0 0 PQLC2 54896 broad.mit.edu 37 1 19653876 19653876 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:19653876C>T uc001bby.2 + 8 1126 c.774C>T c.(772-774)GGC>GGT p.G258G PQLC2_uc001bbz.2_Silent_p.G193G|PQLC2_uc001bca.2_Silent_p.G258G|PQLC2_uc001bcb.2_Silent_p.G147G|PQLC2_uc001bcc.2_Silent_p.G147G NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 258 Helical; (Potential). integral to membrane 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTGTGGGCAGCCTGGGCG 0.652 NA 8 32 0 0 0 0 DCST2 127579 broad.mit.edu 37 1 155006045 155006045 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:155006045G>T uc001fgm.2 - 1 213 c.133C>A c.(133-135)CTA>ATA p.L45I DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 45 Helical; (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCACCAGTAGCTCCAGAAGC 0.632 NA 14 69 1.57e-10 1.76e-10 1 0 GON4L 54856 broad.mit.edu 37 1 155736338 155736338 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:155736338C>T uc001flz.2 - 21 3023 c.2926G>A c.(2926-2928)GGT>AGT p.G976S GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.G976S|GON4L_uc009wrh.1_Missense_Mutation_p.G976S|GON4L_uc001fma.1_Missense_Mutation_p.G976S|GON4L_uc001fmb.3_Missense_Mutation_p.G172S|GON4L_uc001fmc.2_Missense_Mutation_p.G976S|GON4L_uc001fmd.3_Missense_Mutation_p.G976S|GON4L_uc009wri.2_Missense_Mutation_p.G562S NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 976 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGGACTACACCCTTAGGCAAT 0.498 NA 19 66 0 0 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926233 156926233 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:156926233C>T uc001fqo.2 - 18 2570 c.1530G>A c.(1528-1530)CCG>CCA p.P510P ARHGEF11_uc001fqn.2_Silent_p.P550P|ARHGEF11_uc001fqp.1_Silent_p.P39P NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 510 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TAGGGAAGAACGGTAGCCACT 0.338 NA 21 86 0 0 0 0 CD1E 913 broad.mit.edu 37 1 158326543 158326543 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:158326543C>T uc001fse.2 + 6 1263 c.1024C>T c.(1024-1026)CAC>TAC p.H342Y CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.H252Y|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.H153Y|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Missense_Mutation_p.H98Y|CD1E_uc001fsf.2_Intron|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.H243Y|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_Intron NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 342 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TCTTTCTCCCCACACACCCAG 0.343 NA 9 50 0 0 0 0 IL24 11009 broad.mit.edu 37 1 207072852 207072852 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:207072852G>A uc001hes.1 + 3 506 c.232G>A c.(232-234)GAC>AAC p.D78N IL24_uc001het.1_Intron|IL24_uc001heu.1_Missense_Mutation_p.D79N|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Missense_Mutation_p.D79N|IL24_uc001hex.1_Intron NM_006850 NP_006841 Q13007 IL24_HUMAN interleukin 24 isoform 1 precursor 78 apoptosis extracellular space cytokine activity 0 Breast(84;0.201) GGCTGTGAAAGACACTATGGT 0.547 NA 15 56 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63661489 63661489 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:63661489G>A uc001jlt.1 + 1 47 c.21G>A c.(19-21)CAG>CAA p.Q7Q ARID5B_uc010qil.1_Silent_p.Q7Q NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 7 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) ACTCACTCCAGGTATTTCGCT 0.587 NA 7 32 0 0 0 0 DNA2 1763 broad.mit.edu 37 10 70204742 70204742 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:70204742T>C uc001jof.2 - 8 1414 c.1414A>G c.(1414-1416)ATA>GTA p.I472V DNA2_uc001jog.1_Missense_Mutation_p.I386V|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 386 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 TCCTCAATTATTTGTGGCAAA 0.343 NA 20 44 0 0 0 0 DLG5 9231 broad.mit.edu 37 10 79569435 79569435 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:79569435T>C uc001jzk.2 - 24 4587 c.4517A>G c.(4516-4518)AAA>AGA p.K1506R DLG5_uc001jzi.2_Missense_Mutation_p.K261R|DLG5_uc001jzj.2_Missense_Mutation_p.K921R|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1506 PDZ 4. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTGGGACTTTTTGATGAAGAC 0.542 NA 70 162 0 0 0 0 GRID1 2894 broad.mit.edu 37 10 87615919 87615919 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:87615919A>G uc001kdl.1 - 7 1081 c.980T>C c.(979-981)GTT>GCT p.V327A GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 327 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CAGCATCAGAACACTGTCATA 0.498 NA Multiple Myeloma(13;0.14) 18 36 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704198 117704198 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr10:117704198A>G uc001lcg.2 + 29 4434 c.4048A>G c.(4048-4050)ATT>GTT p.I1350V ATRNL1_uc010qsm.1_Missense_Mutation_p.I479V|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1350 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CCTAATAGATATTTCACAACA 0.423 NA 22 49 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6662135 6662135 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:6662135G>T uc001mem.1 - 2 1120 c.710C>A c.(709-711)GCC>GAC p.A237D NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 237 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGCCTGGGCCCTCCGGGG 0.597 NA 25 115 1.43e-11 1.6e-11 1 0 ST5 6764 broad.mit.edu 37 11 8728695 8728695 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:8728695C>T uc001mgt.2 - 13 2694 c.2508G>A c.(2506-2508)TCG>TCA p.S836S ST5_uc009yfr.2_Silent_p.S416S|ST5_uc001mgu.2_Silent_p.S416S|ST5_uc001mgv.2_Silent_p.S836S|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Silent_p.S349S|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 836 DENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CTGGGAAGGGCGACTCCATGA 0.592 NA 11 33 0 0 0 0 CSRP3 8048 broad.mit.edu 37 11 19209725 19209725 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:19209725A>T uc001mpk.2 - 3 356 c.239T>A c.(238-240)CTC>CAC p.L80H NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 80 cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 GTCTGTGCTGAGACAGCCAGC 0.567 NA 18 97 0 0 0 0 HIPK3 10114 broad.mit.edu 37 11 33308310 33308310 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:33308310A>G uc001mul.1 + 2 620 c.350A>G c.(349-351)CAT>CGT p.H117R HIPK3_uc001mum.1_Missense_Mutation_p.H117R|HIPK3_uc009yjv.1_Missense_Mutation_p.H117R NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 117 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 AACAGATTGCATTTCCTAGAA 0.498 NA 11 39 0 0 0 0 ALKBH3 221120 broad.mit.edu 37 11 43923092 43923092 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:43923092G>C uc001mxs.2 + 8 929 c.486G>C c.(484-486)AAG>AAC p.K162N ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.K15N NM_139178 NP_631917 Q96Q83 ALKB3_HUMAN AlkB homolog 3 162 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) GCACACTAAAGAACCGCATTG 0.488 NA Direct_reversal_of_damage 11 32 0 0 0 0 NUMA1 4926 broad.mit.edu 37 11 71717271 71717271 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:71717271C>T uc001orl.1 - 22 5674 c.5502G>A c.(5500-5502)TCG>TCA p.S1834S NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1834 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TGCTGTAGAACGATGAGTTGG 0.552 NA T RARA APL 6 56 0 0 0 0 PRDM10 56980 broad.mit.edu 37 11 129827743 129827743 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr11:129827743G>A uc001qfm.2 - 3 364 c.132C>T c.(130-132)CGC>CGT p.R44R PRDM10_uc001qfn.2_Silent_p.R44R|PRDM10_uc009zct.1_Silent_p.R44R NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GCTGTGGGGGGCGAACCTGGT 0.537 NA 51 182 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40715964 40715964 + Silent SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:40715964A>T uc001rmg.3 + 36 5419 c.5298A>T c.(5296-5298)ACA>ACT p.T1766T LRRK2_uc009zjw.2_Silent_p.T604T|LRRK2_uc001rmi.2_Silent_p.T599T NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1766 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TAAAAATTACAGTTCCTTCTT 0.303 NA 9 35 0 0 0 0 ITGA7 3679 broad.mit.edu 37 12 56091493 56091493 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:56091493G>A uc001shh.2 - 9 1627 c.1407C>T c.(1405-1407)ACC>ACT p.T469T ITGA7_uc001shg.2_Silent_p.T465T|ITGA7_uc010sps.1_Silent_p.T372T|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.T352T NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 509 FG-GAP 7.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 AGAGCACTGCGGTGTCAGCCA 0.597 NA 19 53 0 0 0 0 CCDC60 160777 broad.mit.edu 37 12 119917004 119917004 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:119917004C>G uc001txe.2 + 4 912 c.447C>G c.(445-447)CAC>CAG p.H149Q uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 149 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCGAGGCTCACGTGTAAGTAG 0.478 NA 5 28 0 0 0 0 WDR66 144406 broad.mit.edu 37 12 122369654 122369654 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:122369654C>T uc009zxk.2 + 4 892 c.750C>T c.(748-750)ACC>ACT p.T250T NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 250 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCTTCCAGACCATGACCTGGT 0.502 NA 3 25 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124371815 124371815 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr12:124371815G>A uc001uft.3 + 51 8621 c.8596G>A c.(8596-8598)GCT>ACT p.A2866T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2866 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGCCCATGTGGCTGAGGAGGG 0.542 NA 6 30 0 0 0 0 CKAP2 26586 broad.mit.edu 37 13 53048164 53048164 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:53048164A>G uc001vgv.2 + 8 1947 c.1750A>G c.(1750-1752)ACG>GCG p.T584A CKAP2_uc001vgu.2_Missense_Mutation_p.T583A|CKAP2_uc010tha.1_Missense_Mutation_p.T535A NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 584 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CAATACAGAAACGAGGACAAG 0.328 NA 12 43 0 0 0 0 DACH1 1602 broad.mit.edu 37 13 72440352 72440352 + Nonsense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:72440352G>A uc010thn.1 - 2 973 c.550C>T c.(550-552)CAG>TAG p.Q184* DACH1_uc010tho.1_Nonsense_Mutation_p.Q184*|DACH1_uc010thp.1_Nonsense_Mutation_p.Q184* NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCATTATTCTGAGGGGTGTTT 0.488 NA 7 21 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77625998 77625998 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:77625998T>C uc001vkf.2 - 82 13680 c.13589A>G c.(13588-13590)TAT>TGT p.Y4530C MYCBP2_uc010aev.2_Missense_Mutation_p.Y3934C|MYCBP2_uc001vke.2_Missense_Mutation_p.Y1147C NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCTGGGATCATAATCATCTCC 0.428 NA 7 22 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672743 77672743 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:77672743T>C uc001vkf.2 - 57 8523 c.8432A>G c.(8431-8433)AAT>AGT p.N2811S MYCBP2_uc010aev.2_Missense_Mutation_p.N2215S|MYCBP2_uc001vkg.1_Missense_Mutation_p.N334S|MYCBP2_uc010aew.2_Missense_Mutation_p.N197S NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2811 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGAGGTAGATTTTTATCATG 0.483 NA 22 56 0 0 0 0 SPRY2 10253 broad.mit.edu 37 13 80911560 80911560 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr13:80911560A>C uc001vli.2 - 2 1259 c.281T>G c.(280-282)CTC>CGC p.L94R SPRY2_uc001vlj.2_Missense_Mutation_p.L94R NM_005842 NP_005833 O43597 SPY2_HUMAN sprouty 2 94 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity ovary(1)|lung(1) 2 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CGAGTGCTGGAGCCTAGGAGG 0.622 NA 17 62 0 0 0 0 OR4N5 390437 broad.mit.edu 37 14 20612330 20612330 + Silent SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr14:20612330T>C uc010tla.1 + 1 436 c.436T>C c.(436-438)TTG>CTG p.L146L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGCATTATCGTTGGTTCTGTG 0.498 NA 12 117 0 0 0 0 FNTB 2342 broad.mit.edu 37 14 65390788 65390788 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr14:65390788T>C uc010tsl.1 + 2 193 c.119T>C c.(118-120)CTG>CCG p.L40P CHURC1_uc010tsj.1_Missense_Mutation_p.L40P|CHURC1_uc010tsk.1_RNA|FNTB_uc010tsm.1_5'UTR|CHURC1_uc001xhv.1_Missense_Mutation_p.L40P|CHURC1_uc001xhw.1_Missense_Mutation_p.L40P NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta Error:Variant_position_missing_in_P49356_after_alignment protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) GATTTTATGCTGATCACAAAC 0.383 NA 14 63 0 0 0 0 C16orf11 146325 broad.mit.edu 37 16 614994 614994 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:614994C>G uc002chk.2 + 3 1682 c.1403C>G c.(1402-1404)TCT>TGT p.S468C NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 468 central_nervous_system(1) 1 CTCGACCTCTCTGTGAAACGT 0.726 NA 3 13 0 0 0 0 USP31 57478 broad.mit.edu 37 16 23117549 23117549 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:23117549G>A uc002dll.2 - 4 938 c.938C>T c.(937-939)CCT>CTT p.P313L NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 313 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) GTGGGGCAGAGGAATTGGCAA 0.388 NA 9 46 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 30002109 30002109 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:30002109G>A uc002dvc.1 + 18 3233 c.2450G>A c.(2449-2451)CGG>CAG p.R817Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004783 NP_004774 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CCCCAGCTGCGGCTTGATGAG 0.592 NA 18 48 0 0 0 0 CHD9 80205 broad.mit.edu 37 16 53289642 53289642 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:53289642C>T uc002ehb.2 + 18 4324 c.4160C>T c.(4159-4161)ACA>ATA p.T1387I CHD9_uc002egy.2_Missense_Mutation_p.T1387I|CHD9_uc002ehc.2_Missense_Mutation_p.T1387I|CHD9_uc002ehf.2_Missense_Mutation_p.T501I|CHD9_uc002ehd.2_Missense_Mutation_p.T913I NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1387 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CTACGTCGTACAAAAACTATT 0.393 NA 21 197 0 0 0 0 HERPUD1 9709 broad.mit.edu 37 16 56974084 56974084 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:56974084C>T uc002eke.1 + 6 1241 c.832C>T c.(832-834)CTC>TTC p.L278F HERPUD1_uc002ekf.1_Missense_Mutation_p.L277F|HERPUD1_uc002ekg.1_Missense_Mutation_p.L253F|HERPUD1_uc010cco.1_Intron|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Missense_Mutation_p.L96F NM_014685 NP_055500 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum 278 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 TTCTGTTTTTCTCAGTATCCT 0.433 NA T ERG prostate 81 70 0 0 0 0 FAM192A 80011 broad.mit.edu 37 16 57188404 57188404 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:57188404T>G uc010vhk.1 - 7 822 c.563A>C c.(562-564)AAG>ACG p.K188T FAM192A_uc002ekz.3_Missense_Mutation_p.K187T|FAM192A_uc002ekv.3_Missense_Mutation_p.K110T|FAM192A_uc002ekw.3_Missense_Mutation_p.K187T|FAM192A_uc002ekx.3_Missense_Mutation_p.K187T|FAM192A_uc002eky.3_Missense_Mutation_p.K187T NM_024946 NP_079222 Q9GZU8 F192A_HUMAN NEFA-interacting nuclear protein NIP30 188 nucleus 0 TCCGAGAGACTTGCAGGATGA 0.488 NA 8 35 0 0 0 0 CDH3 1001 broad.mit.edu 37 16 68712178 68712178 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr16:68712178C>G uc002ewf.2 + 4 1520 c.388C>G c.(388-390)CAG>GAG p.Q130E CDH3_uc010vli.1_Missense_Mutation_p.Q75E NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 130 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) GAGACTGAATCAGGTACGACT 0.527 NA 9 34 0 0 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867251 2867251 + Silent SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:2867251G>C uc010ckd.2 + 7 471 c.381G>C c.(379-381)GGG>GGC p.G127G RAP1GAP2_uc010cke.2_Silent_p.G112G NM_015085 NP_055900 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 isoform 1 127 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity ovary(1) 1 CATCGCTGGGGAGCAGCATCT 0.602 NA 11 35 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T rs28934874 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:7578479G>T uc002gim.2 - 5 645 c.451C>A c.(451-453)CCC>ACC p.P151T TP53_uc002gig.1_Missense_Mutation_p.P151T|TP53_uc002gih.2_Missense_Mutation_p.P151T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19T|TP53_uc010cng.1_Missense_Mutation_p.P19T|TP53_uc002gii.1_Missense_Mutation_p.P19T|TP53_uc010cnh.1_Missense_Mutation_p.P151T|TP53_uc010cni.1_Missense_Mutation_p.P151T|TP53_uc002gij.2_Missense_Mutation_p.P151T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58T|TP53_uc002gio.2_Missense_Mutation_p.P19T|TP53_uc010vug.1_Missense_Mutation_p.P112T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(10)|p.P152fs*18(9)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P58A(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19A(1)|p.P152fs*14(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 33 3.65e-15 4.19e-15 1 0 SLC47A2 146802 broad.mit.edu 37 17 19605988 19605988 + Splice_Site SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr17:19605988C>G uc002gwe.3 - 13 1378 c.1203_splice c.e13-1 p.E401_splice SLC47A2_uc002gwg.3_Splice_Site_p.E365_splice|SLC47A2_uc002gwf.3_Splice_Site_p.E379_splice|SLC47A2_uc002gwh.3_Splice_Site|SLC47A2_uc002gwi.2_Splice_Site|SLC47A2_uc010cqs.1_Splice_Site NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) AATGACATCTCTGCAGAAGAA 0.453 NA 6 13 0 0 0 0 ADCYAP1 116 broad.mit.edu 37 18 909585 909585 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:909585G>C uc010dkg.2 + 5 599 c.480G>C c.(478-480)AAG>AAC p.K160N ADCYAP1_uc010dkh.2_Missense_Mutation_p.K160N NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 160 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 TCCTAGGGAAGAGGTATAAAC 0.507 NA 13 194 0 0 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257171 9257171 + Silent SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:9257171A>G uc002knv.2 + 9 4163 c.3906A>G c.(3904-3906)AGA>AGG p.R1302R ANKRD12_uc002knw.2_Silent_p.R1279R|ANKRD12_uc002knx.2_Silent_p.R1279R|ANKRD12_uc010dkx.1_Silent_p.R1009R NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1302 nucleus ovary(2)|central_nervous_system(1) 3 GCGAGGGGAGACCTACCATAG 0.398 NA 50 70 0 0 0 0 MIB1 57534 broad.mit.edu 37 18 19424087 19424087 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:19424087A>T uc002ktq.2 + 15 2084 c.2084A>T c.(2083-2085)CAG>CTG p.Q695L MIB1_uc002ktp.2_Missense_Mutation_p.Q334L NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 695 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CTTGATATTCAGGATAAGGAT 0.433 NA 7 63 0 0 0 0 KIAA0427 9811 broad.mit.edu 37 18 46238063 46238063 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr18:46238063G>A uc002ldc.2 + 7 866 c.581G>A c.(580-582)CGA>CAA p.R194Q KIAA0427_uc002ldd.2_Missense_Mutation_p.R194Q NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 194 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 AGAAATGATCGAAGGTAGGAG 0.547 NA OREG0024973 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 71 0 0 0 0 WDR18 57418 broad.mit.edu 37 19 985937 985937 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:985937G>A uc002lqm.1 + 2 309 c.283G>A c.(283-285)GTC>ATC p.V95I WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Intron|WDR18_uc010dry.1_Missense_Mutation_p.V95I NM_024100 NP_077005 Q9BV38 WDR18_HUMAN WD repeat domain 18 95 WD 2. skin(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCTCTACGTCCTGGCAGG 0.572 NA 4 37 0 0 0 0 C19orf35 374872 broad.mit.edu 37 19 2276476 2276476 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:2276476C>T uc002lvn.2 - 4 725 c.625G>A c.(625-627)GGG>AGG p.G209R SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN hypothetical protein LOC374872 209 pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTCCGCCCCGGGCTTGGGC 0.701 NA 5 11 0 0 0 0 PEX11G 92960 broad.mit.edu 37 19 7550795 7550795 + Missense_Mutation SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:7550795T>A uc002mgk.1 - 2 187 c.178A>T c.(178-180)AGG>TGG p.R60W PEX11G_uc002mgl.1_5'UTR NM_080662 NP_542393 Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma 60 Cytoplasmic (Potential). integral to membrane|peroxisomal membrane 0 AAGATGGTCCTGCAGTGGCTG 0.567 NA 17 42 0 0 0 0 EVI5L 115704 broad.mit.edu 37 19 7916349 7916349 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:7916349C>T uc002min.2 + 7 937 c.783C>T c.(781-783)TTC>TTT p.F261F EVI5L_uc010xjz.1_Silent_p.F261F|EVI5L_uc002mio.1_5'UTR NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 261 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 ACACCCACTTCCGTTCCCAAA 0.632 NA 11 68 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728770 20728770 + Missense_Mutation SNP T T G rs61742876 by1000genomes TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:20728770T>G uc002npa.2 - 4 419 c.239A>C c.(238-240)CAT>CCT p.H80P NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 80 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TCGGGCAAAATGAGAACACGT 0.323 NA 4 19 0 0 0 0 RBM42 79171 broad.mit.edu 37 19 36124784 36124784 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:36124784G>A uc002oan.2 + 7 956 c.880G>A c.(880-882)GAG>AAG p.E294K RBM42_uc010eef.2_Missense_Mutation_p.E240K|RBM42_uc002oao.2_Missense_Mutation_p.E272K|RBM42_uc002oap.2_Missense_Mutation_p.E264K|RBM42_uc002oaq.2_Missense_Mutation_p.E265K|RBM42_uc010eeg.2_Missense_Mutation_p.E265K NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 294 Necessary for interaction with HNRNPK (By similarity).|Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCATTGCCCGAGCCTGAGCC 0.746 NA 4 8 0 0 0 0 ZNF527 84503 broad.mit.edu 37 19 37879538 37879538 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:37879538A>T uc010efk.1 + 5 698 c.587A>T c.(586-588)TAT>TTT p.Y196F ZNF527_uc002ogf.3_Missense_Mutation_p.Y164F|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTGATATTTATGATAAACTC 0.323 NA 7 68 0 0 0 0 ZNF320 162967 broad.mit.edu 37 19 53384668 53384668 + Missense_Mutation SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:53384668T>A uc002qag.2 - 4 902 c.711A>T c.(709-711)AGA>AGT p.R237S ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R183S|ZNF320_uc002qai.2_Missense_Mutation_p.R237S NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 237 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) CAGTATGACTTCTATGATGAC 0.398 NA 10 66 0 0 0 0 ZNF446 55663 broad.mit.edu 37 19 58991828 58991828 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr19:58991828C>T uc002qsz.2 + 7 1205 c.1088C>T c.(1087-1089)CCG>CTG p.P363L ZNF446_uc002qta.2_Missense_Mutation_p.R335W|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 363 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GTGCAGTCCCCGGGGCTAGCC 0.657 NA 7 30 0 0 0 0 KCNF1 3754 broad.mit.edu 37 2 11053801 11053801 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:11053801C>T uc002rax.2 + 1 1739 c.1249C>T c.(1249-1251)CGC>TGC p.R417C NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 417 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CAACAAGCAGCGCGTCCTGGA 0.617 NA 6 20 0 0 0 0 FAM161A 84140 broad.mit.edu 37 2 62067206 62067206 + Missense_Mutation SNP C C A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:62067206C>A uc010ypo.1 - 3 1035 c.933G>T c.(931-933)AAG>AAT p.K311N FAM161A_uc002sbm.3_Missense_Mutation_p.K311N|FAM161A_uc002sbn.3_Missense_Mutation_p.K121N|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.K202N NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 311 Potential. response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 TGCTTTTCTCCTTCAGAGACC 0.443 NA 17 132 4.97e-08 5.45e-08 1 0 DLX1 1745 broad.mit.edu 37 2 172951395 172951395 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:172951395G>A uc002uhl.2 + 2 525 c.327G>A c.(325-327)GAG>GAA p.E109E DLX1_uc010fqj.1_Silent_p.E109E|DLX1_uc002uhm.2_Intron NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 109 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) CGGACTCGGAGAAGAGCACGG 0.567 NA 21 90 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202131498 202131498 + Nonsense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:202131498C>T uc002uxr.1 + 3 498 c.289C>T c.(289-291)CAA>TAA p.Q97* CASP8_uc010ftc.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxo.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxp.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxs.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q156*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxy.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxx.1_Nonsense_Mutation_p.Q97*|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q97* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 97 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 AGGCAGGGCTCAAATTTCTGC 0.488 NA HNSCC(4;0.00038) 5 18 0 0 0 0 OR6B2 389090 broad.mit.edu 37 2 240969562 240969562 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr2:240969562G>T uc002vyr.2 - 2 331 c.285C>A c.(283-285)GTC>GTA p.V95V OR6B2_uc010zoc.1_Silent_p.V95V NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TCATGCACCCGACGAAAGAGA 0.577 NA 8 46 1.77e-08 1.96e-08 1 0 ZSWIM3 140831 broad.mit.edu 37 20 44507028 44507028 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr20:44507028G>A uc002xqd.2 + 2 2034 c.1831G>A c.(1831-1833)GAG>AAG p.E611K ZSWIM3_uc010zxg.1_Missense_Mutation_p.E605K|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 611 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) AGGCCAGCCTGAGAAGCAAGG 0.587 NA 18 80 0 0 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011580 46011580 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr21:46011580G>T uc002zfm.2 - 1 807 c.786C>A c.(784-786)ACC>ACA p.T262T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 262 23.|29 X 5 AA repeats of C-C-X(3). keratin filament 0 AGGGGGAGGAGGTGCAGCAAG 0.652 NA 28 84 2.68e-12 3.03e-12 1 0 TPST2 8459 broad.mit.edu 37 22 26932363 26932363 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr22:26932363C>T uc003acv.2 - 3 1100 c.932G>A c.(931-933)CGG>CAG p.R311Q TPST2_uc003acw.2_Missense_Mutation_p.R311Q|TPST2_uc003acx.2_Missense_Mutation_p.R311Q NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 311 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 GGCCATGTCCCGCACCACATC 0.602 NA 5 26 0 0 0 0 SMTN 6525 broad.mit.edu 37 22 31492832 31492832 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr22:31492832G>A uc003ajl.1 + 14 2193 c.1975G>A c.(1975-1977)GAT>AAT p.D659N SMTN_uc003ajk.1_Missense_Mutation_p.D659N|SMTN_uc003ajm.1_Missense_Mutation_p.D659N|SMTN_uc011ale.1_Missense_Mutation_p.D744N|SMTN_uc011alf.1_Missense_Mutation_p.D715N|SMTN_uc003ajn.1_Missense_Mutation_p.D682N|SMTN_uc011alg.1_Missense_Mutation_p.D115N|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 659 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GCGGGCAGCTGATGGCTCTGC 0.687 NA 19 55 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 86114798 86114798 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:86114798C>T uc003dqj.2 + 9 1733 c.1107C>T c.(1105-1107)CTC>CTT p.L369L CADM2_uc003dqk.2_Silent_p.L338L|CADM2_uc003dql.2_Silent_p.L371L NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 369 Helical; (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACCATGCTCTCATAGGAGGAA 0.403 NA 6 18 0 0 0 0 ABHD10 55347 broad.mit.edu 37 3 111697969 111697969 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:111697969G>T uc003dyk.3 + 1 142 c.61G>T c.(61-63)GCA>TCA p.A21S ABHD10_uc011bhq.1_5'UTR NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 21 mitochondrion serine-type peptidase activity 0 CTGGGGCTGGGCAGCCGTCCC 0.687 NA 6 31 0.00116845 0.0012296 1 0 CCDC80 151887 broad.mit.edu 37 3 112324383 112324383 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:112324383G>A uc003dzf.2 - 8 2952 c.2734C>T c.(2734-2736)CGC>TGC p.R912C CCDC80_uc011bhv.1_Missense_Mutation_p.R885C|CCDC80_uc003dzg.2_Missense_Mutation_p.R912C NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 912 ovary(2) 2 TCTGGGCAGCGCATCCCCAGT 0.473 NA 3 38 0 0 0 0 GP5 2814 broad.mit.edu 37 3 194118839 194118839 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr3:194118839A>T uc003ftv.1 - 2 204 c.173T>A c.(172-174)TTC>TAC p.F58Y NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 58 Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GCCCATTCCGAAGAGCAGGAT 0.677 NA 46 73 0 0 0 0 NAT8L 339983 broad.mit.edu 37 4 2065645 2065645 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:2065645G>A uc003geq.1 + 3 352 c.196G>A c.(196-198)GAG>AAG p.E66K NM_178557 NP_848652 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, 234 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity 0 OV - Ovarian serous cystadenocarcinoma(23;0.0315) GAAGGTGCTGGAGTTCGCCGT 0.652 NA 6 24 0 0 0 0 UGDH 7358 broad.mit.edu 37 4 39512453 39512453 + Missense_Mutation SNP A A G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:39512453A>G uc003guk.1 - 4 609 c.293T>C c.(292-294)ATG>ACG p.M98T UGDH_uc011byp.1_Missense_Mutation_p.M1T|UGDH_uc003gul.1_Intron NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 98 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) GCCTTTCCCCATTCCATAGGT 0.413 NA 20 67 0 0 0 0 NFXL1 152518 broad.mit.edu 37 4 47898591 47898591 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:47898591G>A uc010igh.2 - 10 1455 c.1278C>T c.(1276-1278)ATC>ATT p.I426I NFXL1_uc003gxp.2_Silent_p.I426I|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.I426I NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 426 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AACATCTATGGATTCCGCATT 0.373 NA 7 38 0 0 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156431 70156431 + Silent SNP T T A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:70156431T>A uc003hej.2 + 5 1214 c.1212T>A c.(1210-1212)GCT>GCA p.A404A UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 404 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) ATAACATTGCTCACATGAAGG 0.453 NA 21 129 0 0 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156461 70156462 + Missense_Mutation DNP AC AC TT TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:70156461_70156462AC>TT uc003hej.2 + 5 1244_1245 c.1242_1243AC>TT c.(1240-1245)AGACTG>AGTTTG p.R414S UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 414 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CAGCTGTTAGACTGGACTTCCA 0.441 NA 12 132 0 0 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661382 77661382 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:77661382G>A uc011cbx.1 + 5 3009 c.2056G>A c.(2056-2058)GAG>AAG p.E686K SHROOM3_uc011cbz.1_Missense_Mutation_p.E510K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E561K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E464K NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 686 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GGGAACCCAGGAGGGTTACCC 0.607 NA 53 72 0 0 0 0 RRH 10692 broad.mit.edu 37 4 110758732 110758732 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:110758732G>T uc003hzv.2 + 5 725 c.691G>T c.(691-693)GAC>TAC p.D231Y NM_006583 NP_006574 O14718 OPSX_HUMAN peropsin 231 Cytoplasmic. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) CCTCAACAGAGACTGGTCAGA 0.403 NA 7 23 0.000157383 0.000167934 1 0 TKTL2 84076 broad.mit.edu 37 4 164394114 164394114 + Missense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:164394114G>T uc003iqp.3 - 1 934 c.773C>A c.(772-774)GCA>GAA p.A258E NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 258 cytoplasm metal ion binding|transketolase activity p.A258V(1) ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CCAATTTTCTGCATCCTCAAT 0.408 NA 24 93 5.62e-17 6.46e-17 1 0 KIAA1712 80817 broad.mit.edu 37 4 175232005 175232005 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:175232005T>G uc003itr.2 + 9 1371 c.957T>G c.(955-957)AAT>AAG p.N319K KIAA1712_uc010iro.2_Missense_Mutation_p.N319K|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 319 centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) ACCTTCTGAATCCTCGTAAGT 0.274 NA 22 65 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187524850 187524850 + Nonsense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:187524850G>C uc003izf.2 - 19 11018 c.10830C>G c.(10828-10830)TAC>TAG p.Y3610* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3610 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CATTGAGAAGGTATTGCCCTA 0.498 NA HNSCC(5;0.00058) 6 20 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82817939 82817939 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:82817939G>A uc003kii.3 + 7 4170 c.3814G>A c.(3814-3816)GAA>AAA p.E1272K VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E1272K|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1272 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAAGGAAACAGAAACCGATAT 0.453 NA 10 68 0 0 0 0 FAM172A 83989 broad.mit.edu 37 5 93294538 93294538 + Missense_Mutation SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:93294538T>C uc010jbd.2 - 6 718 c.511A>G c.(511-513)ATA>GTA p.I171V FAM172A_uc011cuf.1_Missense_Mutation_p.I125V|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.I171V NM_032042 NP_114431 Q8WUF8 F172A_HUMAN hypothetical protein LOC83989 isoform 1 171 endoplasmic reticulum|extracellular region 0 TCTTCATTTATAATAAGTCTT 0.388 NA 16 81 0 0 0 0 NUDT12 83594 broad.mit.edu 37 5 102894926 102894926 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:102894926A>T uc003koi.2 - 3 543 c.450T>A c.(448-450)TTT>TTA p.F150L NUDT12_uc011cvb.1_Missense_Mutation_p.F132L NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 150 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AGAAAAGAATAAAAACTGTGG 0.378 NA 8 42 0 0 0 0 KIF3A 11127 broad.mit.edu 37 5 132069993 132069993 + Missense_Mutation SNP T T G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:132069993T>G uc003kxo.2 - 2 338 c.184A>C c.(184-186)ACT>CCT p.T62P KIF3A_uc003kxn.2_Missense_Mutation_p.T21P|KIF3A_uc011cxf.1_Missense_Mutation_p.T62P|KIF3A_uc003kxp.2_Missense_Mutation_p.T62P NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 62 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTATCAAAAGTAAATGTCTTT 0.368 NA 38 126 0 0 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188217 140188217 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:140188217C>T uc003lhi.2 + 1 1546 c.1445C>T c.(1444-1446)GCG>GTG p.A482V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482V|PCDHA4_uc011daa.1_Missense_Mutation_p.A482V NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 482 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGGACGCGGACGCGCAG 0.657 NA 16 59 0 0 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558908 140558908 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:140558908G>C uc011dai.1 + 1 1479 c.1293G>C c.(1291-1293)AGG>AGC p.R431S PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 431 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACACCCAGGCTGACAACAC 0.532 NA 19 69 0 0 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627104 140627104 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:140627104C>T uc003lje.2 + 1 1958 c.1958C>T c.(1957-1959)TCG>TTG p.S653L NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 653 Extracellular (Potential).|Cadherin 6. 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) CCTCCGCGCTCGGCCACCGCC 0.697 NA 19 60 0 0 0 0 FGF1 2246 broad.mit.edu 37 5 141974914 141974914 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:141974914G>A uc003lmm.2 - 4 489 c.409C>T c.(409-411)CGG>TGG p.R137W FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.R137W|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.R137W|FGF1_uc010jgj.2_Missense_Mutation_p.R136W|FGF1_uc003lmr.2_Missense_Mutation_p.R137W|FGF1_uc003lms.3_Missense_Mutation_p.R137W NM_001144892 NP_001138364 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) isoform 1 137 Heparin-binding. angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding 0 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) TAGTGAGTCCGAGGACCGCGT 0.478 NA 15 41 0 0 0 0 TCERG1 10915 broad.mit.edu 37 5 145878147 145878147 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:145878147C>G uc003lob.2 + 16 2320 c.2280C>G c.(2278-2280)TTC>TTG p.F760L TCERG1_uc003loc.2_Missense_Mutation_p.F739L NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 760 FF 2. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTCAAGATTCAAAGCAATTG 0.388 NA 16 43 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160063201 160063201 + Silent SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr5:160063201G>T uc003lym.1 - 11 1963 c.1116C>A c.(1114-1116)ATC>ATA p.I372I ATP10B_uc003lyp.2_Silent_p.I372I|ATP10B_uc011deg.1_Silent_p.I416I|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Silent_p.I344I NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 372 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGCAGGATGATCATTGTGA 0.493 NA 10 48 3.86e-05 4.14e-05 1 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115271 27115271 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:27115271G>A uc003niz.2 + 1 364 c.364G>A c.(364-366)GAG>AAG p.E122K HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 122 nucleosome assembly nucleosome|nucleus DNA binding 0 TAAGAAGACTGAGAGCCACCA 0.522 NA 5 43 0 0 0 0 VARS 7407 broad.mit.edu 37 6 31749380 31749380 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:31749380C>T uc003nxe.2 - 21 2845 c.2422G>A c.(2422-2424)GAA>AAA p.E808K VARS_uc003nxf.1_5'Flank NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 808 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CTCAGGTCTTCTGACTGAGGG 0.637 NA 13 40 0 0 0 0 TFEB 7942 broad.mit.edu 37 6 41655657 41655657 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:41655657C>T uc003oqs.1 - 6 961 c.659G>A c.(658-660)CGA>CAA p.R220Q TFEB_uc003oqt.1_Missense_Mutation_p.R220Q|TFEB_uc003oqu.1_Missense_Mutation_p.R234Q|TFEB_uc003oqv.1_Missense_Mutation_p.R220Q|TFEB_uc010jxo.1_Missense_Mutation_p.R220Q|TFEB_uc003oqr.1_Missense_Mutation_p.R135Q NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 220 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TGTGAGCTCTCGCTTCTGGGT 0.478 NA T ALPHA renal (childhood epithelioid) 14 53 0 0 0 0 KIAA1919 91749 broad.mit.edu 37 6 111587430 111587430 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:111587430G>A uc003puv.3 + 4 1087 c.665G>A c.(664-666)CGA>CAA p.R222Q NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 222 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GAGACATTTCGAAGAGCAAAA 0.343 NA 13 32 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117687343 117687343 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:117687343A>C uc003pxp.1 - 18 2907 c.2708T>G c.(2707-2709)ATT>AGT p.I903S ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 903 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGTTGTGATAATCCTAAAGCC 0.423 NA T GOPC|ROS1 glioblastoma|NSCLC 16 106 0 0 0 0 SERINC1 57515 broad.mit.edu 37 6 122777667 122777667 + Silent SNP T T C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:122777667T>C uc003pyy.1 - 3 400 c.330A>G c.(328-330)AAA>AAG p.K110K NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 110 Cytoplasmic (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) TACTCTTCACTTTGATCATTA 0.378 NA 11 38 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597369 136597369 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:136597369C>T uc003qgx.1 - 5 1547 c.1294G>A c.(1294-1296)GAG>AAG p.E432K BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E430K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E430K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 432 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCTTCCTCCTCAGTATTCCGG 0.413 NA 13 218 0 0 0 0 MAP7 9053 broad.mit.edu 37 6 136710510 136710510 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:136710510C>G uc003qgz.2 - 4 636 c.390G>C c.(388-390)CAG>CAC p.Q130H MAP7_uc011edf.1_Missense_Mutation_p.Q115H|MAP7_uc011edg.1_Missense_Mutation_p.Q152H|MAP7_uc010kgu.2_Missense_Mutation_p.Q152H|MAP7_uc011edh.1_Missense_Mutation_p.Q152H|MAP7_uc010kgv.2_Missense_Mutation_p.Q152H|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Intron|MAP7_uc003qha.1_Missense_Mutation_p.Q130H|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.Q152H NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 130 Potential. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CCTCAAGTCTCTGCCTCCGCT 0.562 NA 20 89 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152694261 152694261 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr6:152694261C>T uc010kiw.2 - 59 10020 c.9418G>A c.(9418-9420)GCG>ACG p.A3140T SYNE1_uc003qot.3_Missense_Mutation_p.A3147T|SYNE1_uc003qou.3_Missense_Mutation_p.A3140T|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.A218T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3140 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCCCTTTCGCTTTCTCTTTG 0.393 NA HNSCC(10;0.0054) 29 118 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11630197 11630197 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:11630197C>T uc003ssf.3 - 4 1595 c.1343G>A c.(1342-1344)CGC>CAC p.R448H NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 448 Extracellular (Potential).|TSP type-1 4. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTGGTTGCCGCGCCTCTTGTC 0.557 NA HNSCC(18;0.044) 9 29 0 0 0 0 NPY 4852 broad.mit.edu 37 7 24324986 24324986 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:24324986G>A uc003sww.1 + 2 213 c.127G>A c.(127-129)GAG>AAG p.E43K NM_000905 NP_000896 P01303 NPY_HUMAN neuropeptide Y precursor 43 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity 0 CGCACCAGCGGAGGACATGGC 0.682 NA 7 27 0 0 0 0 UPP1 7378 broad.mit.edu 37 7 48146983 48146983 + Silent SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:48146983C>G uc003toj.2 + 9 1201 c.672C>G c.(670-672)CTC>CTG p.L224L UPP1_uc003tok.2_Silent_p.L224L|UPP1_uc003tol.2_Silent_p.L224L|UPP1_uc011kch.1_Silent_p.L17L|UPP1_uc003ton.2_Silent_p.L87L|UPP1_uc003too.2_Silent_p.L87L NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 224 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 ATGGGGCTCTCTGCTCCTACA 0.582 NA 21 36 0 0 0 0 ZNF107 51427 broad.mit.edu 37 7 64167053 64167053 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:64167053G>A uc003ttd.2 + 7 1157 c.371G>A c.(370-372)AGA>AAA p.R124K ZNF107_uc003tte.2_Missense_Mutation_p.R124K NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 124 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CAGCATAGAAGAATTCATACT 0.328 NA 6 27 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82585177 82585177 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:82585177C>T uc003uhx.2 - 5 5381 c.5092G>A c.(5092-5094)GAA>AAA p.E1698K PCLO_uc003uhv.2_Missense_Mutation_p.E1698K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1629 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATTTCCAATTCTGGCTCTTCG 0.433 NA 8 26 0 0 0 0 SLC12A9 56996 broad.mit.edu 37 7 100457855 100457855 + Splice_Site SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:100457855G>A uc003uwp.2 + 9 1360 c.1218_splice c.e9+1 p.Q406_splice SLC12A9_uc003uwq.2_Splice_Site_p.Q317_splice|SLC12A9_uc011kki.1_Translation_Start_Site|SLC12A9_uc003uwr.2_Splice_Site_p.Q142_splice|SLC12A9_uc003uws.2_Translation_Start_Site|SLC12A9_uc003uwt.2_Splice_Site_p.Q142_splice|SLC12A9_uc003uwv.2_Translation_Start_Site NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCTGGTGCAGGTGAGCCTTCT 0.562 NA 8 26 0 0 0 0 PLOD3 8985 broad.mit.edu 37 7 100859997 100859997 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:100859997C>T uc003uyd.2 - 2 636 c.180G>A c.(178-180)GAG>GAA p.E60E ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 60 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGTTGAAGAACTCCGCAGAGC 0.607 NA 7 30 0 0 0 0 CFTR 1080 broad.mit.edu 37 7 117292972 117292972 + Missense_Mutation SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr7:117292972A>C uc003vjd.2 + 24 4082 c.3950A>C c.(3949-3951)AAA>ACA p.K1317T CFTR_uc011knq.1_Missense_Mutation_p.K723T NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1317 Cytoplasmic (Potential).|ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAAATATGGAAAGTTGCAGAT 0.338 NA Cystic_Fibrosis 8 32 0 0 0 0 HR 55806 broad.mit.edu 37 8 21986633 21986633 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:21986633C>T uc003xas.2 - 2 716 c.51G>A c.(49-51)ACG>ACA p.T17T HR_uc003xat.2_Silent_p.T17T|HR_uc010lts.2_Silent_p.T17T NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 17 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCTCTGGGGCCGTCTTCTCCC 0.652 NA 4 78 0 0 0 0 ADRA1A 148 broad.mit.edu 37 8 26627932 26627932 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:26627932C>T uc003xfh.1 - 2 1571 c.1135G>A c.(1135-1137)GTG>ATG p.V379M ADRA1A_uc003xfc.1_Missense_Mutation_p.V379M|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V379M|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V379M NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 379 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTTGATCCCACGGGGATGCGC 0.552 NA 23 78 0 0 0 0 DCAF13 25879 broad.mit.edu 37 8 104453792 104453792 + Missense_Mutation SNP C C G TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:104453792C>G uc003yln.2 + 10 1929 c.1652C>G c.(1651-1653)TCT>TGT p.S551C DCAF13_uc003ylo.2_Missense_Mutation_p.S262C NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing 399 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 CTACCAAAATCTATCTATAGC 0.393 NA 26 112 0 0 0 0 TTC35 9694 broad.mit.edu 37 8 109465334 109465334 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:109465334G>C uc003ymw.1 + 4 298 c.263G>C c.(262-264)AGA>ACA p.R88T NM_014673 NP_055488 Q15006 TTC35_HUMAN tetratricopeptide repeat domain 35 88 TPR 1. endoplasmic reticulum|nucleus binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) GGCAGTCACAGAGTCAAGCGA 0.398 NA 5 38 0 0 0 0 CYC1 1537 broad.mit.edu 37 8 145150852 145150852 + Silent SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr8:145150852G>C uc003zaz.3 + 2 289 c.246G>C c.(244-246)GTG>GTC p.V82V CYC1_uc003zay.2_Silent_p.V23V NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 82 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATTCGGCTGTGAGTGCCAGTG 0.662 NA OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 71 0 0 0 0 TTC39B 158219 broad.mit.edu 37 9 15185309 15185309 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:15185309G>A uc003zlr.1 - 16 1506 c.1385C>T c.(1384-1386)CCT>CTT p.P462L TTC39B_uc003zlq.1_Missense_Mutation_p.P431L|TTC39B_uc011lmp.1_Missense_Mutation_p.P363L|TTC39B_uc010mie.1_Missense_Mutation_p.P460L|TTC39B_uc011lmq.1_Missense_Mutation_p.P449L|TTC39B_uc011lmr.1_Missense_Mutation_p.P393L|TTC39B_uc003zlp.1_Missense_Mutation_p.P45L NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 462 binding ovary(1) 1 CACAGGTGCAGGTAAGGAGGC 0.473 NA 43 102 0 0 0 0 KIAA1797 54914 broad.mit.edu 37 9 20981679 20981679 + Missense_Mutation SNP G G C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:20981679G>C uc003zog.1 + 40 4995 c.4632G>C c.(4630-4632)AAG>AAC p.K1544N KIAA1797_uc003zoh.1_Missense_Mutation_p.K980N NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1544 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TGCCAAATAAGATTCGGGTGA 0.448 NA 5 48 0 0 0 0 ABCA1 19 broad.mit.edu 37 9 107564419 107564419 + Silent SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:107564419A>C uc004bcl.2 - 34 4927 c.4614T>G c.(4612-4614)GGT>GGG p.G1538G NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1538 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TATTACTGACACCCAGGGAAA 0.448 NA 8 35 0 0 0 0 COL27A1 85301 broad.mit.edu 37 9 116930511 116930511 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:116930511C>T uc011lxl.1 + 3 676 c.676C>T c.(676-678)CAC>TAC p.H226Y COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.H76Y NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 226 Laminin G-like. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GCAGGTCGCTCACAATTACTG 0.557 NA 24 64 0 0 0 0 COL5A1 1289 broad.mit.edu 37 9 137620520 137620520 + Missense_Mutation SNP C C T rs148548209 TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:137620520C>T uc004cfe.2 + 6 1173 c.791C>T c.(790-792)ACG>ATG p.T264M NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 264 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTTCAGTACACGGAAGGAGAC 0.612 NA 46 173 0 0 0 0 COL5A1 1289 broad.mit.edu 37 9 137716559 137716559 + Silent SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:137716559C>T uc004cfe.2 + 62 5194 c.4812C>T c.(4810-4812)TAC>TAT p.Y1604Y uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1604 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACGTGGACTACGCGGACGGCA 0.622 NA 12 29 0 0 0 0 CDKL5 6792 broad.mit.edu 37 X 18668577 18668577 + Missense_Mutation SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:18668577G>A uc004cym.2 + 20 3098 c.2845G>A c.(2845-2847)GTC>ATC p.V949I CDKL5_uc004cyn.2_Missense_Mutation_p.V949I|RS1_uc004cyo.2_Intron NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 949 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) CACTCCGTGCGTCCCAAACCG 0.582 NA 23 59 0 0 0 0 PJA1 64219 broad.mit.edu 37 X 68381831 68381831 + Silent SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:68381831A>C uc004dxh.2 - 2 1537 c.1251T>G c.(1249-1251)CCT>CCG p.P417P PJA1_uc011mpi.1_Silent_p.P135P|PJA1_uc004dxg.2_Silent_p.P229P|PJA1_uc004dxi.2_Silent_p.P362P NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 417 zinc ion binding 0 CACCGGGGCCAGGGCTGGTGC 0.622 NA 8 55 0 0 0 0 ARL13A 392509 broad.mit.edu 37 X 100240775 100240775 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:100240775A>T uc004ego.2 + 4 366 c.250A>T c.(250-252)AAC>TAC p.N84Y ARL13A_uc011mrf.1_Missense_Mutation_p.N84Y|ARL13A_uc010nng.2_Missense_Mutation_p.N84Y NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 84 GTP binding ovary(1) 1 AGCATGGCCAAACTACTATGC 0.468 NA 15 23 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107979062 107979062 + Silent SNP G G A TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:107979062G>A uc004eoc.2 - 1 546 c.513C>T c.(511-513)TTC>TTT p.F171F NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 171 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CGTCTTGGGTGAAAAGAGCAA 0.597 NA 7 55 0 0 0 0 DOCK11 139818 broad.mit.edu 37 X 117775197 117775197 + Nonsense_Mutation SNP G G T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:117775197G>T uc004eqp.2 + 39 4252 c.4189G>T c.(4189-4191)GAA>TAA p.E1397* DOCK11_uc004eqq.2_Nonsense_Mutation_p.E1176* NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1397 blood coagulation cytosol GTP binding ovary(3) 3 GGCACTTCTTGAAGGCAATAC 0.368 NA 20 62 1.18e-14 1.35e-14 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117959641 117959641 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chrX:117959641C>T uc004equ.2 + 4 907 c.434C>T c.(433-435)GCC>GTC p.A145V NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 ggggagaaagcctccctttat 0.01 NA 35 110 0 0 0 0 RABGGTB 5876 broad.mit.edu 37 1 76255009 76255009 + Frame_Shift_Del DEL C C - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr1:76255009delC uc001dgy.1 + 3 348 c.277delC c.(277-279)CCTfs p.P93fs RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Frame_Shift_Del_p.P47fs|SNORD45B_uc009wbv.1_5'Flank NM_004582 NP_004573 P53611 PGTB2_HUMAN RAB geranylgeranyltransferase, beta subunit 93 PFTB 2. protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity ovary(1) 1 CGGACATGATCCTCATCTTTT 0.368 NA 21 78 --- --- --- --- NA NA NA NA WHSC1 7468 broad.mit.edu 37 4 1957868 1957869 + Frame_Shift_Ins INS - - C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr4:1957868_1957869insC uc003gdz.3 + 15 3010_3011 c.2834_2835insC c.(2833-2835)GGCfs p.G945fs WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 945 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGGACCGGGGCAGCCGCTACC 0.51 NA T IGH@ MM 20 177 --- --- --- --- NA NA NA NA SEMA4D 10507 broad.mit.edu 37 9 91978793 91978793 + Frame_Shift_Del DEL T T - TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:91978793delT uc011ltm.1 - 19 2527 c.1955delA c.(1954-1956)CATfs p.H652fs SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aql.2_RNA|SEMA4D_uc004aqm.2_RNA NM_001142287 NP_001135759 Q92854 SEM4D_HUMAN semaphorin 4D isoform 2 Error:Variant_position_missing_in_Q92854_after_alignment anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GGGCAGTGCATGGGTCTGCAC 0.607 NA 8 79 --- --- --- --- NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139409935 139409936 + Frame_Shift_Ins INS - - TG TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 24ad5336-f5ee-49c0-a176-48411285fbe8 3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6 g.chr9:139409935_139409936insTG uc004chz.2 - 11 1902_1903 c.1902_1903insCA c.(1900-1905)ACAGGAfs p.T634fs NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 634_635 Extracellular (Potential).|EGF-like 16; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCGGCCACCTGTGGTCCCCT 0.698 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 14 41 --- --- --- --- NA NA NA NA