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 ZZZ3 26009 broad.mit.edu 37 1 78099026 78099026 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:78099026C>T uc001dhq.2 - 5 490 c.14G>A c.(13-15)CGA>CAA p.R5Q ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R5Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R5Q NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 ACGAGTAGATCGGGAAGCAGC 0.403 NA 4 28 0 0 0 0 PTBP2 58155 broad.mit.edu 37 1 97272478 97272478 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:97272478C>T uc001drq.2 + 11 1381 c.1135C>T c.(1135-1137)CTA>TTA p.L379L PTBP2_uc001drn.2_Silent_p.L384L|PTBP2_uc001dro.2_Silent_p.L379L|PTBP2_uc010otz.1_Silent_p.L395L|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.L327L|PTBP2_uc001drr.2_Silent_p.L384L|PTBP2_uc010oua.1_Silent_p.L387L|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 379 RRM 3. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGACAGCGCTCTAATACAGAT 0.348 NA 4 52 0 0 0 0 OLFM3 118427 broad.mit.edu 37 1 102270200 102270200 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:102270200A>G uc001duf.2 - 6 1102 c.1031T>C c.(1030-1032)TTC>TCC p.F344S OLFM3_uc001dug.2_Missense_Mutation_p.F324S|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.F249S|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 344 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GATGTCAGAGAATCCACCCCA 0.453 NA 13 37 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109812137 109812137 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:109812137G>T uc001dxa.3 + 21 6965 c.6904G>T c.(6904-6906)GTC>TTC p.V2302F NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2302 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGACAAACCCGTCACGGTGCA 0.607 NA 8 32 0.000157383 0.000180132 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 4 57 0 0 0 0 LY9 4063 broad.mit.edu 37 1 160769743 160769743 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:160769743A>T uc001fwu.2 + 2 375 c.325A>T c.(325-327)ATC>TTC p.I109F LY9_uc001fwt.2_Missense_Mutation_p.I109F|LY9_uc010pjs.1_Missense_Mutation_p.I109F|LY9_uc001fwv.2_Missense_Mutation_p.I109F|LY9_uc001fww.2_Missense_Mutation_p.I109F|LY9_uc001fwx.2_Missense_Mutation_p.I109F|LY9_uc001fwy.1_Missense_Mutation_p.I11F NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 109 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCGACTAGACATCACCAAGTG 0.453 NA 21 74 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175046803 175046803 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:175046803C>T uc001gkl.1 + 2 362 c.249C>T c.(247-249)AAC>AAT p.N83N TNN_uc010pmx.1_Silent_p.N83N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 83 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGAACAGAACATCATCTTCA 0.617 NA 17 50 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215940123 215940123 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:215940123C>G uc001hku.1 - 56 11334 c.10947G>C c.(10945-10947)CAG>CAC p.Q3649H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3649 Extracellular (Potential).|Fibronectin type-III 21. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTGTATGGCTGGAGACCTA 0.423 NA HNSCC(13;0.011) 11 50 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216373318 216373318 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:216373318T>A uc001hku.1 - 17 3849 c.3462A>T c.(3460-3462)TTA>TTT p.L1154F USH2A_uc001hkv.2_Missense_Mutation_p.L1154F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1154 Extracellular (Potential).|Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGATATAACTTAAAGTCAAGT 0.423 NA HNSCC(13;0.011) 16 95 0 0 0 0 PGBD3 267004 broad.mit.edu 37 10 50724315 50724315 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr10:50724315G>A uc001jht.2 - 2 1101 c.846C>T c.(844-846)TGC>TGT p.C282C ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.C750C|PGBD3_uc001jhu.2_Silent_p.C750C NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 282 pancreas(1)|breast(1)|skin(1) 3 TAAATTGTTTGCACCCGTGAC 0.413 NA 7 30 0 0 0 0 DNMBP 23268 broad.mit.edu 37 10 101731794 101731794 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr10:101731794C>T uc001kqj.2 - 2 180 c.88G>A c.(88-90)GAG>AAG p.E30K NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 30 SH3 1. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GCCAGCACCTCAATAATATCT 0.468 NA 32 103 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1263968 1263968 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:1263968C>T uc009ycr.1 + 47 8063 c.7937C>T c.(7936-7938)GCC>GTC p.A2646V MUC5B_uc001ltb.2_Missense_Mutation_p.A1956V NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1953 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCTCCAAAGCCACTCCCTCC 0.632 NA 25 94 0 0 0 0 C11orf53 341032 broad.mit.edu 37 11 111156591 111156591 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:111156591G>A uc001plc.2 + 4 670 c.523G>A c.(523-525)GGG>AGG p.G175R NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 175 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CCACACTCCGGGGTACCCTAC 0.622 NA 24 103 0 0 0 0 FAM55A 120400 broad.mit.edu 37 11 114393075 114393075 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:114393075G>C uc001ppa.2 - 6 1250 c.833C>G c.(832-834)CCT>CGT p.P278R FAM55A_uc010rxd.1_Missense_Mutation_p.P127R NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 420 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) AATTTCCCGAGGGATATAATC 0.433 NA 23 92 0 0 0 0 ANO2 57101 broad.mit.edu 37 12 5908715 5908715 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:5908715C>T uc001qnm.2 - 10 1073 c.1001G>A c.(1000-1002)CGC>CAC p.R334H NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 339 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.R335H(1) ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CACTCCATAGCGCGCCCATTC 0.418 NA 4 32 0 0 0 0 CD163L1 283316 broad.mit.edu 37 12 7527960 7527960 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:7527960T>A uc001qsy.2 - 11 2944 c.2918A>T c.(2917-2919)GAG>GTG p.E973V CD163L1_uc010sge.1_Missense_Mutation_p.E983V NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 973 SRCR 9.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CAGAAGTGACTCATTCCCTAA 0.458 NA 10 45 0 0 0 0 RACGAP1 29127 broad.mit.edu 37 12 50386143 50386143 + Missense_Mutation SNP T T G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:50386143T>G uc001rvt.2 - 16 1773 c.1463A>C c.(1462-1464)CAT>CCT p.H488P RACGAP1_uc009zlm.1_Missense_Mutation_p.H488P|RACGAP1_uc001rvs.2_Missense_Mutation_p.H488P|RACGAP1_uc001rvu.2_Missense_Mutation_p.H488P NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 488 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 CATTTTAGTATGTGGACTCTG 0.393 NA 8 46 0 0 0 0 APAF1 317 broad.mit.edu 37 12 99065373 99065373 + Nonsense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:99065373C>T uc001tfz.2 + 12 2246 c.1669C>T c.(1669-1671)CGA>TGA p.R557* APAF1_uc001tfy.2_Nonsense_Mutation_p.R546*|APAF1_uc001tga.2_Nonsense_Mutation_p.R546*|APAF1_uc001tgb.2_Nonsense_Mutation_p.R557*|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Translation_Start_Site NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 557 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) CCTTCTTGGACGACAGCCATT 0.413 NA 10 110 0 0 0 0 MED13L 23389 broad.mit.edu 37 12 116445306 116445306 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:116445306A>G uc001tvw.2 - 11 2203 c.2148T>C c.(2146-2148)TAT>TAC p.Y716Y NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 716 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CTTCAAAGGTATATGGGTCAT 0.433 NA 23 135 0 0 0 0 RPLP0 6175 broad.mit.edu 37 12 120634606 120634606 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:120634606G>A uc001txp.2 - 8 1161 c.924C>T c.(922-924)GAC>GAT p.D308D GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.D308D|RPLP0_uc001txr.2_Silent_p.D246D NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 308 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCATATCCTCGTCCGACTCCT 0.313 NA 10 50 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124341683 124341683 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:124341683G>T uc001uft.3 + 36 6190 c.6165G>T c.(6163-6165)TTG>TTT p.L2055F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2055 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) TCCTTGGTTTGATTTCGGATC 0.532 NA 6 54 0.00307968 0.00339465 1 0 LATS2 26524 broad.mit.edu 37 13 21562740 21562740 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr13:21562740G>A uc009zzs.2 - 4 1544 c.1179C>T c.(1177-1179)CAC>CAT p.H393H LATS2_uc001unr.3_Silent_p.H393H NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 393 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGAAGGCCACGTGCGCGCGCG 0.736 NA 3 7 0 0 0 0 NEK5 341676 broad.mit.edu 37 13 52682493 52682493 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr13:52682493G>T uc001vge.2 - 8 655 c.515C>A c.(514-516)TCC>TAC p.S172Y NEK5_uc001vgf.2_Missense_Mutation_p.S172Y NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 172 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GATCTCTGGGGACAGGTAGTA 0.338 NA 24 53 1.55e-18 2.03e-18 1 0 GZMH 2999 broad.mit.edu 37 14 25076508 25076508 + Silent SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:25076508A>C uc001wpr.1 - 4 489 c.444T>G c.(442-444)GGT>GGG p.G148G GZMH_uc010aly.1_Intron|GZMH_uc010alz.1_Intron NM_033423 NP_219491 P20718 GRAH_HUMAN granzyme H precursor 148 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(265;0.0267) TTGAGACATAACCCCAGCCAG 0.557 NA 10 65 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237527 29237527 + Missense_Mutation SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:29237527A>C uc001wqe.2 + 1 1241 c.1042A>C c.(1042-1044)AAC>CAC p.N348H NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 348 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTTGACTCAGAACTCGCTGGG 0.657 NA 18 117 0 0 0 0 ARHGAP5 394 broad.mit.edu 37 14 32586346 32586346 + Nonsense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:32586346C>T uc001wrl.2 + 3 3957 c.3718C>T c.(3718-3720)CAG>TAG p.Q1240* ARHGAP5_uc001wrm.2_Intron|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.Q1240*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1240 Lys-rich. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTCTTATAGCAGAAAAAGAA 0.323 NA 9 38 0 0 0 0 FERMT2 10979 broad.mit.edu 37 14 53345312 53345312 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:53345312A>G uc001xad.2 - 7 1006 c.951T>C c.(949-951)TTT>TTC p.F317F FERMT2_uc001xac.2_Silent_p.F317F|FERMT2_uc001xae.2_Silent_p.F317F|FERMT2_uc001xaf.2_Silent_p.F317F NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 317 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) GCAGGGCTGCAAACATCATCA 0.413 NA 26 80 0 0 0 0 RPAP1 26015 broad.mit.edu 37 15 41819777 41819777 + Nonsense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:41819777C>T uc001zod.2 - 12 1579 c.1455G>A c.(1453-1455)TGG>TGA p.W485* NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 485 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTCCATGGTACCAAGAGAAGG 0.552 NA 3 19 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44900683 44900683 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:44900683T>C uc001ztx.2 - 19 3443 c.3412A>G c.(3412-3414)AGT>GGT p.S1138G SPG11_uc010ueh.1_Missense_Mutation_p.S1138G|SPG11_uc010uei.1_Missense_Mutation_p.S1138G NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1138 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GGCAGGACACTAGGAGGAGTG 0.368 NA 12 54 0 0 0 0 GLDN 342035 broad.mit.edu 37 15 51696913 51696913 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:51696913T>C uc002aba.2 + 10 1787 c.1618T>C c.(1618-1620)TAT>CAT p.Y540H GLDN_uc002abb.2_Missense_Mutation_p.Y416H NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 540 Extracellular (Potential).|Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TTTAATGCTTTATCCTGTGCA 0.413 NA 19 99 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350798 79350798 + Missense_Mutation SNP C C T rs150686548 TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:79350798C>T uc002beq.2 - 3 784 c.409G>A c.(409-411)GAG>AAG p.E137K RASGRF1_uc002bep.2_Missense_Mutation_p.E137K|RASGRF1_uc010blm.1_Missense_Mutation_p.E59K|RASGRF1_uc002ber.3_Missense_Mutation_p.E137K NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 137 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 ATTAATGCCTCATGCTCTGTG 0.572 NA 5 45 0 0 0 0 CLDN6 9074 broad.mit.edu 37 16 3065430 3065430 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:3065430G>A uc002csu.3 - 2 653 c.593C>T c.(592-594)GCC>GTC p.A198V NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 198 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 TGAGTAGCGGGCCATGTAATG 0.652 NA 13 60 0 0 0 0 TEKT5 146279 broad.mit.edu 37 16 10788235 10788235 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:10788235T>C uc002czz.1 - 1 568 c.496A>G c.(496-498)AAC>GAC p.N166D NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 166 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 AAGTTCTGGTTCTCAGTCAGA 0.607 NA 49 249 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31087784 31087784 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:31087784C>G uc002eap.2 + 2 428 c.139C>G c.(139-141)CCC>GCC p.P47A ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CATCCCTCGGCCCTACCGTTG 0.632 NA 13 81 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31087829 31087829 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:31087829A>G uc002eap.2 + 2 473 c.184A>G c.(184-186)AGC>GGC p.S62G ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 62 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TCACCCCGGGAGCCTGGTTAA 0.602 NA 13 61 0 0 0 0 DUS2L 54920 broad.mit.edu 37 16 68112759 68112759 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:68112759G>A uc002evi.2 + 17 1501 c.1352G>A c.(1351-1353)CGA>CAA p.R451Q DUS2L_uc002evj.2_Missense_Mutation_p.R451Q|DUS2L_uc010vkk.1_Missense_Mutation_p.R416Q|DUS2L_uc010cez.2_Missense_Mutation_p.R364Q NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 451 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TTGCACAAGCGAAAGAGGGAG 0.627 NA 13 57 0 0 0 0 NUP88 4927 broad.mit.edu 37 17 5290432 5290432 + Splice_Site SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:5290432T>C uc002gbo.1 - 15 1943 c.1917_splice c.e15-1 p.R639_splice NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Splice_Site_p.R655_splice NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 TTTTTCATCCTTTAGAAAAGG 0.373 NA 11 29 0 0 0 0 CHRNB1 1140 broad.mit.edu 37 17 7350422 7350422 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:7350422C>T uc002ghb.2 + 5 455 c.414C>T c.(412-414)TCC>TCT p.S138S CHRNB1_uc010vty.1_Silent_p.S66S|CHRNB1_uc010vtz.1_5'UTR NM_000747 NP_000738 P11230 ACHB_HUMAN nicotinic acetylcholine receptor beta 1 subunit 138 Extracellular (Potential). behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity ovary(2) 2 Prostate(122;0.157) CCGACGGCTCCGTGCGTTGGC 0.527 NA 9 37 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7574034 7574034 + Splice_Site SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:7574034C>A uc002gim.2 - 10 1188 c.994_splice c.e10-1 p.I332_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site|TP53_uc010cng.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cnh.1_Splice_Site|TP53_uc010cni.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.?(4)|p.I332fs*49(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) GCCCACGGATCTGCAGCAACA 0.403 111 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) 5 15 0.000602214 0.000675316 1 0 MYH2 4620 broad.mit.edu 37 17 10432731 10432731 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:10432731T>A uc010coi.2 - 25 3313 c.3185A>T c.(3184-3186)GAG>GTG p.E1062V uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1062V|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1062 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CAAGTCACCCTCAAGTTTCCT 0.373 NA 8 62 0 0 0 0 NF1 4763 broad.mit.edu 37 17 29548868 29548868 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:29548868G>T uc002hgg.2 + 15 1975 c.1642G>T c.(1642-1644)GCT>TCT p.A548S NF1_uc002hgf.1_Missense_Mutation_p.A548S|NF1_uc002hgh.2_Missense_Mutation_p.A548S|NF1_uc010csn.1_Missense_Mutation_p.A408S NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 548 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAAAATTCAGGCTCTGCTGGT 0.313 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 40 0.00909568 0.0096954 1 0 WNK4 65266 broad.mit.edu 37 17 40940808 40940808 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:40940808C>A uc002ibj.2 + 11 2171 c.2150C>A c.(2149-2151)GCT>GAT p.A717D WNK4_uc010wgx.1_Missense_Mutation_p.A381D|WNK4_uc002ibk.1_Missense_Mutation_p.A489D|WNK4_uc010wgy.1_Missense_Mutation_p.A61D NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 717 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GAGATTGCAGCTGCCATGGTG 0.537 NA 11 51 0.000151284 0.000173664 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48602250 48602250 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:48602250G>T uc010wmr.1 + 13 1939 c.1777G>T c.(1777-1779)GCC>TCC p.A593S MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 556 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CAAGCTGACTGCCCATGAGGC 0.582 NA 19 80 5.04e-11 6.41e-11 1 0 ABCA6 23460 broad.mit.edu 37 17 67094145 67094145 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:67094145C>T uc002jhw.1 - 23 3211 c.3036G>A c.(3034-3036)GGG>GGA p.G1012G NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1012 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) CATCCGGCAACCCAGTCCAGA 0.368 NA 6 27 0 0 0 0 ABCA6 23460 broad.mit.edu 37 17 67111520 67111520 + Nonsense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:67111520C>A uc002jhw.1 - 12 1778 c.1603G>T c.(1603-1605)GAA>TAA p.E535* ABCA6_uc002jhx.1_5'UTR NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 535 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TACTCACCTTCTGTTGGAACA 0.358 NA 16 85 1.03e-11 1.31e-11 1 0 DNAH17 8632 broad.mit.edu 37 17 76540009 76540009 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:76540009C>A uc002jvv.1 - 13 1674 c.1568G>T c.(1567-1569)AGA>ATA p.R523I RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTTGGCAATTCTTCCATCCAA 0.498 NA 29 175 6.39e-12 8.18e-12 1 0 RNF213 57674 broad.mit.edu 37 17 78318661 78318661 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:78318661C>A uc002jyh.1 + 4 968 c.745C>A c.(745-747)CAA>AAA p.Q249K NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACGATTCAATCAAAACCAAGA 0.493 NA 16 53 6.94e-10 8.78e-10 1 0 EPB41L3 23136 broad.mit.edu 37 18 5419778 5419778 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr18:5419778C>T uc002kmt.1 - 12 1524 c.1438G>A c.(1438-1440)GAG>AAG p.E480K EPB41L3_uc010wzh.1_Missense_Mutation_p.E498K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E498K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E389K|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.E59K NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 480 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 tcctcttcctcgtcccgctcc 0.388 NA 9 46 0 0 0 0 ATP9B 374868 broad.mit.edu 37 18 76873335 76873335 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr18:76873335A>G uc002lmx.2 + 4 553 c.539A>G c.(538-540)TAC>TGC p.Y180C ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.Y180C|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'UTR|ATP9B_uc002lmu.2_Missense_Mutation_p.Y180C NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 180 Helical; (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GGCTATCTCTACACCTACTGG 0.289 NA 6 39 0 0 0 0 RPL36 25873 broad.mit.edu 37 19 5691434 5691434 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:5691434C>A uc002mcv.2 + 3 267 c.198C>A c.(196-198)GAC>GAA p.D66E RPL36_uc002mcw.2_Missense_Mutation_p.D66E NM_033643 NP_378669 Q9Y3U8 RL36_HUMAN ribosomal protein L36 66 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|structural constituent of ribosome 0 TCTCCAAGGACAAACGGGCCC 0.627 NA OREG0025183 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 77 0.00185496 0.00206817 1 0 TMEM205 374882 broad.mit.edu 37 19 11456289 11456289 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:11456289C>T uc002mrb.2 - 2 195 c.7G>A c.(7-9)GAA>AAA p.E3K TMEM205_uc002mra.2_Missense_Mutation_p.E3K|TMEM205_uc002mqz.2_Missense_Mutation_p.E3K|TMEM205_uc002mrc.2_Missense_Mutation_p.E3K|CCDC159_uc010xlr.1_5'Flank|CCDC159_uc010xls.1_5'Flank|CCDC159_uc010xlt.1_5'Flank|CCDC159_uc010xlu.1_5'Flank|CCDC159_uc010xlv.1_5'Flank NM_001145416 NP_001138888 Q6UW68 TM205_HUMAN transmembrane protein 205 3 integral to membrane 0 TTCCCGCCTTCCTCCATCTTG 0.587 NA 3 31 0 0 0 0 ZNF136 7695 broad.mit.edu 37 19 12297983 12297983 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:12297983C>T uc002mti.2 + 4 890 c.790C>T c.(790-792)CTG>TTG p.L264L ZNF136_uc010xmh.1_Silent_p.L198L NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 264 C2H2-type 5. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 CTTTCATTCTCTGAGTTCATT 0.388 NA 24 47 0 0 0 0 UPF1 5976 broad.mit.edu 37 19 18966828 18966828 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:18966828A>G uc002nkg.2 + 12 1947 c.1672A>G c.(1672-1674)AAG>GAG p.K558E UPF1_uc002nkf.2_Missense_Mutation_p.K547E NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 558 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTCTGCGCCAAGAGCCGTGA 0.612 NA 5 18 0 0 0 0 NCAN 1463 broad.mit.edu 37 19 19338426 19338426 + Missense_Mutation SNP C C T rs111534277 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:19338426C>T uc002nlz.2 + 8 2096 c.1997C>T c.(1996-1998)ACG>ATG p.T666M NCAN_uc010ecc.1_Missense_Mutation_p.T230M NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 666 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCCACCGCCACGGCTCCACCC 0.612 NA 20 108 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23544891 23544891 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:23544891T>A uc002nre.2 - 4 1003 c.890A>T c.(889-891)GAA>GTA p.E297V ZNF91_uc010xrj.1_Missense_Mutation_p.E265V NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 297 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GCCACATTCTTCACATTTGTA 0.393 NA 18 86 0 0 0 0 ATP4A 495 broad.mit.edu 37 19 36051747 36051747 + Missense_Mutation SNP C C T rs148572774 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:36051747C>T uc002oal.1 - 5 537 c.508G>A c.(508-510)GCC>ACC p.A170T ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 170 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TTAAAGCTGGCGATGATGTTG 0.562 NA 13 95 0 0 0 0 IRGC 56269 broad.mit.edu 37 19 44222644 44222644 + Splice_Site SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:44222644G>A uc002oxh.2 + 2 82 c.-65_splice c.e2-1 NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CTCCTCTGCAGGCGCTGAGGA 0.627 NA 20 64 0 0 0 0 BCL3 602 broad.mit.edu 37 19 45262845 45262845 + Silent SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:45262845C>A uc010xxe.1 + 9 1408 c.1338C>A c.(1336-1338)CCC>CCA p.P446P NM_005178 NP_005169 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 446 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding ovary(1)|lung(1) 2 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GGCCGGTGCCCCCCTCCCCAG 0.667 NA T IGH@ CLL 19 60 2.94e-08 3.67e-08 1 0 ZNF415 55786 broad.mit.edu 37 19 53611805 53611805 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:53611805C>A uc002qax.2 - 7 1986 c.1637G>T c.(1636-1638)TGT>TTT p.C546F ZNF415_uc002qat.2_Missense_Mutation_p.C510F|ZNF415_uc002qaw.2_Missense_Mutation_p.C498F|ZNF415_uc010yds.1_Missense_Mutation_p.C498F|ZNF415_uc010ydt.1_Missense_Mutation_p.C498F|ZNF415_uc002qau.2_Missense_Mutation_p.C485F|ZNF415_uc002qav.2_Missense_Mutation_p.C510F|ZNF415_uc002qba.2_Missense_Mutation_p.C268F|ZNF415_uc002qay.2_Missense_Mutation_p.C485F|ZNF415_uc002qaz.2_Missense_Mutation_p.C546F NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 546 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) ACACTCATTACATTTGTAAGG 0.413 NA 25 161 4.88e-14 6.29e-14 1 0 LILRA1 11024 broad.mit.edu 37 19 55106221 55106221 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:55106221G>A uc002qgh.1 + 4 344 c.162G>A c.(160-162)GAG>GAA p.E54E LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.E54E NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 54 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) GGATCCTGGAGACCCAGGAGT 0.582 NA 15 85 0 0 0 0 APOB 338 broad.mit.edu 37 2 21255246 21255246 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:21255246C>T uc002red.2 - 10 1460 c.1332G>A c.(1330-1332)GCG>GCA p.A444A NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 444 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGTGGCTCAGCGCATACAAGG 0.547 NA 4 75 0 0 0 0 DNMT3A 1788 broad.mit.edu 37 2 25463264 25463264 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:25463264G>A uc002rgc.2 - 19 2486 c.2229C>T c.(2227-2229)CCC>CCT p.P743P DNMT3A_uc002rgd.2_Silent_p.P743P|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.P554P NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 743 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCCTCCTTGGGCCGCGCAT 0.567 NA Mis|F|N|S AML 22 85 0 0 0 0 SMEK2 57223 broad.mit.edu 37 2 55808822 55808822 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:55808822T>A uc002rzc.2 - 8 1621 c.1246A>T c.(1246-1248)ATT>TTT p.I416F SMEK2_uc002rzb.2_Missense_Mutation_p.I416F|SMEK2_uc002rzd.2_Missense_Mutation_p.I416F|SMEK2_uc002rza.2_Missense_Mutation_p.I292F NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 416 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACCACATTAATAAGAAGAATA 0.348 NA 12 48 0 0 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459975 107459975 + Silent SNP G G A rs142520495 TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:107459975G>A uc002tdq.2 - 2 578 c.459C>T c.(457-459)CCC>CCT p.P153P ST6GAL2_uc002tdr.2_Silent_p.P153P|ST6GAL2_uc002tds.3_Silent_p.P153P NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 153 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CTGGCTCCCCGGGGGAAGGGA 0.622 NA 16 252 0 0 0 0 SPOPL 339745 broad.mit.edu 37 2 139316621 139316621 + Silent SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:139316621A>C uc002tvh.2 + 6 910 c.510A>C c.(508-510)ATA>ATC p.I170I NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 170 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) CAGTAAACATATCAGGACATA 0.353 NA 14 77 0 0 0 0 SPOPL 339745 broad.mit.edu 37 2 139316682 139316683 + Missense_Mutation DNP GG GG TT TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:139316682_139316683GG>TT uc002tvh.2 + 6 971_972 c.571_572GG>TT c.(571-573)GGT>TTT p.G191F NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 191 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) AGAAGATTTAGGTAATCTCTGG 0.366 NA 27 100 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160031502 160031502 + Nonsense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:160031502C>G uc002uag.2 + 12 1816 c.1542C>G c.(1540-1542)TAC>TAG p.Y514* TANC1_uc010fol.1_Nonsense_Mutation_p.Y408*|TANC1_uc010zcm.1_Nonsense_Mutation_p.Y506*|TANC1_uc010fom.1_Nonsense_Mutation_p.Y320*|TANC1_uc002uai.1_5'Flank NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 514 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 ACAACACGTACACTTGCCTGG 0.577 NA 46 308 0 0 0 0 GAD1 2571 broad.mit.edu 37 2 171686090 171686090 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:171686090G>T uc002ugi.2 + 4 673 c.251G>T c.(250-252)CGG>CTG p.R84L GAD1_uc002ugh.2_Missense_Mutation_p.R84L NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 84 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AACAGCGACCGGGATGCCCGC 0.547 NA 4 89 0.000602214 0.000675316 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098950 178098950 + Missense_Mutation SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:178098950A>C uc002ulh.3 - 2 650 c.95T>G c.(94-96)GTA>GGA p.V32G NFE2L2_uc002ulg.3_Missense_Mutation_p.V16G|NFE2L2_uc010zfa.1_Missense_Mutation_p.V16G|NFE2L2_uc002uli.3_Missense_Mutation_p.V16G|NFE2L2_uc010fra.2_Missense_Mutation_p.V16G|NFE2L2_uc010frb.2_Missense_Mutation_p.V16G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 32 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTCTCGACTTACTCCAAGATC 0.368 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 6 34 0 0 0 0 PDE11A 50940 broad.mit.edu 37 2 178936794 178936794 + Missense_Mutation SNP C C T rs149522660 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:178936794C>T uc002ulq.2 - 1 689 c.371G>A c.(370-372)AGT>AAT p.S124N PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 124 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GCGGGCAAAACTCTTCCTTAG 0.612 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 17 54 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179598558 179598558 + Silent SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:179598558G>T uc010zfg.1 - 50 12050 c.11826C>A c.(11824-11826)ACC>ACA p.T3942T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T603T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4869 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTTGCAGGGTAACGGTTT 0.413 NA 14 72 1.36e-06 1.68e-06 1 0 TTN 7273 broad.mit.edu 37 2 179640610 179640610 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:179640610G>A uc010zfg.1 - 28 6205 c.5981C>T c.(5980-5982)TCG>TTG p.S1994L TTN_uc010zfh.1_Missense_Mutation_p.S1948L|TTN_uc010zfi.1_Missense_Mutation_p.S1948L|TTN_uc010zfj.1_Missense_Mutation_p.S1948L|TTN_uc002unb.2_Missense_Mutation_p.S1994L|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1994 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTCTTCCGACTCTTCAGG 0.438 NA 21 126 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211532931 211532931 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:211532931A>T uc002vee.3 + 34 4156 c.4024A>T c.(4024-4026)ATT>TTT p.I1342F CPS1_uc010fur.2_Missense_Mutation_p.I1348F|CPS1_uc010fus.2_Missense_Mutation_p.I891F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1342 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGGTGAAGGTATTCATACAGC 0.378 NA 14 56 0 0 0 0 TTLL4 9654 broad.mit.edu 37 2 219609873 219609873 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:219609873A>G uc002viy.2 + 6 2073 c.1703A>G c.(1702-1704)GAG>GGG p.E568G TTLL4_uc010zkl.1_Missense_Mutation_p.E403G|TTLL4_uc010fvx.2_Missense_Mutation_p.E568G|TTLL4_uc010zkm.1_5'Flank NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 568 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCCAATCATGAGAAAGTTGTC 0.473 NA 30 94 0 0 0 0 CUL3 8452 broad.mit.edu 37 2 225365129 225365129 + Nonsense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:225365129T>A uc002vny.2 - 11 1945 c.1561A>T c.(1561-1563)AAG>TAG p.K521* CUL3_uc010zls.1_Nonsense_Mutation_p.K455*|CUL3_uc010fwy.1_Nonsense_Mutation_p.K527*|CUL3_uc002vnz.1_5'UTR NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 521 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATGTTGCACTTTGGTGTGGCT 0.413 NA 20 105 0 0 0 0 MACROD2 140733 broad.mit.edu 37 20 15210612 15210612 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:15210612G>T uc002wou.2 + 6 709 c.445G>T c.(445-447)GCC>TCC p.A149S MACROD2_uc002wot.2_Missense_Mutation_p.A149S|MACROD2_uc002woz.2_5'UTR NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 149 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGGGCCAATAGCCAGGGGCCA 0.358 NA 5 31 2.77e-08 3.47e-08 1 0 C20orf26 26074 broad.mit.edu 37 20 20150070 20150070 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:20150070G>A uc002wru.2 + 13 1427 c.1351G>A c.(1351-1353)GAC>AAC p.D451N C20orf26_uc010zse.1_Missense_Mutation_p.D431N|C20orf26_uc010zsf.1_Missense_Mutation_p.D451N NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 451 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCTCGAGCAGGACCTCTACGT 0.493 NA 14 71 0 0 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060815 35060815 + Missense_Mutation SNP G G A rs141000110 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:35060815G>A uc002xff.2 + 3 1130 c.695G>A c.(694-696)CGC>CAC p.R232H DLGAP4_uc010zvp.1_Missense_Mutation_p.R232H NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 232 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACACTAGGCCGCCAGGCAGAA 0.597 NA 9 85 0 0 0 0 NCOA3 8202 broad.mit.edu 37 20 46254145 46254145 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:46254145G>A uc002xtk.2 + 5 482 c.277G>A c.(277-279)GAT>AAT p.D93N NCOA3_uc010ght.1_Missense_Mutation_p.D93N|NCOA3_uc002xtl.2_Missense_Mutation_p.D93N|NCOA3_uc002xtm.2_Missense_Mutation_p.D93N|NCOA3_uc002xtn.2_Missense_Mutation_p.D93N|NCOA3_uc010zyc.1_5'Flank NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 93 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TTCCAATGATGATGATGTTCA 0.368 NA 18 45 0 0 0 0 PHACTR3 116154 broad.mit.edu 37 20 58330263 58330263 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:58330263G>A uc002yau.2 + 4 852 c.385G>A c.(385-387)GAT>AAT p.D129N PHACTR3_uc002yat.2_Missense_Mutation_p.D126N|PHACTR3_uc010zzw.1_Missense_Mutation_p.D88N|PHACTR3_uc002yav.2_Missense_Mutation_p.D88N|PHACTR3_uc002yaw.2_Missense_Mutation_p.D88N|PHACTR3_uc002yax.2_Missense_Mutation_p.D88N NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 129 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TTGCAACCCCGATGGAGGACC 0.567 NA 9 30 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10920139 10920139 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:10920139C>T uc002yip.1 - 19 1483 c.1115G>A c.(1114-1116)AGG>AAG p.R372K TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R354K|TPTE_uc002yir.1_Missense_Mutation_p.R334K|TPTE_uc010gkv.1_Missense_Mutation_p.R234K NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 372 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCTGTTCGCCTTTCTCCAAA 0.378 NA 15 131 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10944746 10944746 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:10944746G>T uc002yip.1 - 11 856 c.488C>A c.(487-489)ACT>AAT p.T163N TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T145N|TPTE_uc002yir.1_Missense_Mutation_p.T125N|TPTE_uc010gkv.1_Missense_Mutation_p.T25N NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 163 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATAATGGCAGTATCTAAAAT 0.318 NA 10 189 2.18e-05 2.59e-05 1 0 NCAM2 4685 broad.mit.edu 37 21 22906914 22906914 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:22906914C>A uc002yld.1 + 17 2588 c.2339C>A c.(2338-2340)ACT>AAT p.T780N NCAM2_uc011acb.1_Missense_Mutation_p.T638N NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 780 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GAAAGAGTTACTAATCACGAA 0.398 NA 8 32 0.00448238 0.00492681 1 0 C2CD2 25966 broad.mit.edu 37 21 43332500 43332500 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:43332500C>A uc002yzw.2 - 7 1136 c.894G>T c.(892-894)AGG>AGT p.R298S C2CD2_uc002yzu.2_Missense_Mutation_p.R130S|C2CD2_uc002yzv.2_Missense_Mutation_p.R143S|C2CD2_uc002yzx.1_Missense_Mutation_p.R143S NM_015500 NP_056315 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 isoform 298 C2. cytosol|extracellular region|nucleus ovary(1) 1 TGCTGGAGAACCTCTGAACAG 0.488 NA 4 18 0.00909568 0.0096954 1 0 MYO18B 84700 broad.mit.edu 37 22 26194047 26194047 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr22:26194047C>T uc003abz.1 + 12 2754 c.2504C>T c.(2503-2505)GCG>GTG p.A835V MYO18B_uc003aca.1_Missense_Mutation_p.A716V|MYO18B_uc010guy.1_Missense_Mutation_p.A716V|MYO18B_uc010guz.1_Missense_Mutation_p.A716V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.A348V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 835 Myosin head-like. A -> G (in a lung squamous cell carcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CACCTGGGTGCGGCGGGGGCC 0.662 NA 9 17 0 0 0 0 RFTN1 23180 broad.mit.edu 37 3 16475413 16475413 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:16475413C>T uc003cay.2 - 3 559 c.277G>A c.(277-279)GAG>AAG p.E93K RFTN1_uc010hes.2_Missense_Mutation_p.E57K NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 93 plasma membrane ovary(3)|central_nervous_system(1) 4 GGCGTCTTCTCCCGCTCATGG 0.632 NA 23 86 0 0 0 0 ARPP21 10777 broad.mit.edu 37 3 35730853 35730853 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:35730853T>A uc003cgb.2 + 7 725 c.461T>A c.(460-462)ATT>AAT p.I154N ARPP21_uc003cga.2_Missense_Mutation_p.I154N|ARPP21_uc011axy.1_Missense_Mutation_p.I154N|ARPP21_uc003cgf.2_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 154 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GAGTTTCTGATTAACACATTA 0.343 NA 13 53 0 0 0 0 KIF9 64147 broad.mit.edu 37 3 47277951 47277951 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:47277951G>A uc010hjp.2 - 19 2687 c.2083C>T c.(2083-2085)CGC>TGC p.R695C KIF9_uc003cqx.2_Missense_Mutation_p.R695C|KIF9_uc003cqy.2_Missense_Mutation_p.R630C|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 695 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGGCGGTGGCGACACTGATCC 0.592 NA 11 31 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 96533606 96533606 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:96533606G>T uc010how.1 + 1 182 c.139G>T c.(139-141)GGG>TGG p.G47W EPHA6_uc003drp.1_Missense_Mutation_p.G47W NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a Error:Variant_position_missing_in_Q9UF33_after_alignment integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GGGGCGCCCCGGGACACCCCC 0.627 NA 5 26 1.24e-05 1.48e-05 1 0 COL6A6 131873 broad.mit.edu 37 3 130283942 130283942 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:130283942G>T uc010htl.2 + 3 797 c.766G>T c.(766-768)GTA>TTA p.V256L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 256 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GGAAGAAAGTGTATCTGCCCT 0.408 NA 32 181 1.08e-15 1.41e-15 1 0 COL6A6 131873 broad.mit.edu 37 3 130287412 130287412 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:130287412G>C uc010htl.2 + 5 2396 c.2365G>C c.(2365-2367)GAT>CAT p.D789H NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 789 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GCGCATTGAAGATGATCTTGT 0.463 NA 8 85 0 0 0 0 TOPBP1 11073 broad.mit.edu 37 3 133372361 133372361 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:133372361C>T uc003eps.2 - 7 882 c.750G>A c.(748-750)AAG>AAA p.K250K NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 250 BRCT 2. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 CACACTCATACTTCTGACCTG 0.348 NA Other_conserved_DNA_damage_response_genes 7 27 0 0 0 0 TF 7018 broad.mit.edu 37 3 133495987 133495987 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:133495987G>A uc003epu.1 + 21 3695 c.1967G>A c.(1966-1968)TGT>TAT p.C656Y TF_uc011blt.1_Missense_Mutation_p.C529Y|TF_uc003epw.1_Missense_Mutation_p.C95Y|TF_uc003epv.1_Missense_Mutation_p.C656Y NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 656 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GACACAGTATGTTTGGCCAAA 0.433 NA 5 75 0 0 0 0 IL20RB 53833 broad.mit.edu 37 3 136714353 136714353 + Silent SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:136714353G>T uc003eri.1 + 6 1029 c.780G>T c.(778-780)CTG>CTT p.L260L IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Silent_p.L118L NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta precursor 260 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1) 1 TGGGCCGGCTGCTCCAGTACT 0.522 NA 11 472 3.86e-05 4.53e-05 1 0 ZIC4 84107 broad.mit.edu 37 3 147109007 147109007 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:147109007C>T uc003ewd.1 - 4 988 c.715G>A c.(715-717)GAG>AAG p.E239K ZIC4_uc003ewc.1_Missense_Mutation_p.E169K|ZIC4_uc011bno.1_Missense_Mutation_p.E289K NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 239 C2H2-type 4. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TCGCAGCCCTCGAACTCGCAT 0.617 NA 6 38 0 0 0 0 ZIC4 84107 broad.mit.edu 37 3 147113980 147113980 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:147113980A>T uc003ewd.1 - 3 620 c.347T>A c.(346-348)TTC>TAC p.F116Y ZIC4_uc003ewc.1_Missense_Mutation_p.F46Y|ZIC4_uc011bno.1_Missense_Mutation_p.F166Y NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 116 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GTAGCGGAAGAAAGCGCCAGG 0.677 NA 8 72 0 0 0 0 GPR149 344758 broad.mit.edu 37 3 154138953 154138953 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:154138953T>C uc003faa.2 - 3 1598 c.1498A>G c.(1498-1500)ATT>GTT p.I500V NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 500 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCATAGTTAATATCACCTCCT 0.398 NA 35 201 0 0 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852192 20852192 + Nonsense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:20852192G>A uc003gqe.2 - 2 295 c.211C>T c.(211-213)CAG>TAG p.Q71* KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Q67*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Q26*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Q63*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Q26*|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Q68*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Q51* NM_147182 NP_671711 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 3 88 EF-hand 1; degenerate. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) TAAAGGATCTGAAGCTCTTTC 0.458 NA 16 79 0 0 0 0 GABRG1 2565 broad.mit.edu 37 4 46043265 46043265 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:46043265G>T uc003gxb.2 - 9 1290 c.1138C>A c.(1138-1140)CCT>ACT p.P380T NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 380 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGGAGACCAGGAGTCATCTGA 0.393 NA 5 24 8.13e-05 9.36e-05 1 0 CHIC2 26511 broad.mit.edu 37 4 54915177 54915177 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:54915177C>A uc003haj.1 - 3 596 c.275G>T c.(274-276)TGT>TTT p.C92F PDGFRA_uc003haa.2_Intron NM_012110 NP_036242 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 92 CHIC motif (Cys-rich). CGCLCCCC->SGSLSSSS: Loss of palmitoylation. Abolishes membrane association. plasma membrane protein binding central_nervous_system(1) 1 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) GCAGCAGCAACAAAGGCAGCC 0.373 NA T ETV6 AML 5 11 0.000602214 0.000675316 1 0 C4orf21 55345 broad.mit.edu 37 4 113468532 113468532 + Missense_Mutation SNP T T G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:113468532T>G uc003iau.2 - 24 5718 c.5507A>C c.(5506-5508)GAT>GCT p.D1836A C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.D294A NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 658 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CTGTTTGGGATCCCCAACAAG 0.358 NA 3 19 0 0 0 0 PRDM5 11107 broad.mit.edu 37 4 121742406 121742406 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:121742406T>A uc003idn.2 - 4 645 c.395A>T c.(394-396)GAG>GTG p.E132V PRDM5_uc003ido.2_Missense_Mutation_p.E132V|PRDM5_uc010ine.2_Missense_Mutation_p.E132V|PRDM5_uc010inf.2_Missense_Mutation_p.E132V NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 132 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 CTGTTCTTCCTCCTCAGCCTC 0.403 NA 28 94 0 0 0 0 FGA 2243 broad.mit.edu 37 4 155505421 155505421 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:155505421C>G uc003iod.1 - 6 2514 c.2456G>C c.(2455-2457)GGA>GCA p.G819A NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 819 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTAGTAGATTCCATTGAGATT 0.493 NA 26 85 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162697070 162697070 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:162697070G>T uc003iqh.2 - 5 1002 c.566C>A c.(565-567)GCA>GAA p.A189E FSTL5_uc003iqi.2_Missense_Mutation_p.A188E|FSTL5_uc010iqv.2_Missense_Mutation_p.A188E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 189 1 (Potential).|EF-hand 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATTACTGTCTGCATCAAAATA 0.294 NA 10 50 5.51e-06 6.64e-06 1 0 STOX2 56977 broad.mit.edu 37 4 184938290 184938290 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:184938290C>T uc003ivz.1 + 4 4069 c.2634C>T c.(2632-2634)AAC>AAT p.N878N uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 878 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TTGAAAGTAACCGTCGTCAGA 0.498 NA 4 14 0 0 0 0 IRF2 3660 broad.mit.edu 37 4 185310135 185310135 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:185310135C>T uc003iwf.3 - 9 1027 c.827G>A c.(826-828)GGC>GAC p.G276D NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 276 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GGACGCCATGCCGGGCAGCAG 0.552 NA 4 156 0 0 0 0 FBXL7 23194 broad.mit.edu 37 5 15928334 15928334 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:15928334A>T uc003jfn.1 + 3 944 c.463A>T c.(463-465)AGG>TGG p.R155W NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 155 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GCGGCTCTGGAGGACTATCCG 0.657 NA 4 8 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576173 33576173 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:33576173C>T uc003jia.1 - 19 4121 c.3958G>A c.(3958-3960)GGA>AGA p.G1320R ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1235R NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1320 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTCCAGTTTCCGACGATCCAG 0.448 NA HNSCC(64;0.19) 18 60 0 0 0 0 HSD17B4 3295 broad.mit.edu 37 5 118810155 118810155 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:118810155G>A uc003ksj.2 + 4 403 c.280G>A c.(280-282)GAT>AAT p.D94N HSD17B4_uc011cwg.1_Missense_Mutation_p.D70N|HSD17B4_uc011cwh.1_Missense_Mutation_p.D76N|HSD17B4_uc011cwi.1_Missense_Mutation_p.D119N|HSD17B4_uc003ksk.3_5'UTR|HSD17B4_uc011cwj.1_5'Flank|HSD17B4_uc010jcn.1_5'Flank NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 94 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TGGAAGAATAGGTGATGTTTC 0.388 NA 12 82 0 0 0 0 TIMD4 91937 broad.mit.edu 37 5 156349204 156349204 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:156349204C>A uc003lwh.2 - 7 975 c.918G>T c.(916-918)ATG>ATT p.M306I TIMD4_uc010jii.2_Missense_Mutation_p.M278I|TIMD4_uc003lwg.2_Missense_Mutation_p.M8I NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 306 Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTCATTCTTCATTGACATGG 0.502 NA 5 28 3.6e-05 4.23e-05 1 0 STK10 6793 broad.mit.edu 37 5 171517330 171517330 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:171517330G>A uc003mbo.1 - 10 1891 c.1591C>T c.(1591-1593)CGC>TGC p.R531C NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 531 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACAAATTTGCGTGTCCGCTTG 0.502 NA 7 188 0 0 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834730 27834730 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:27834730G>T uc003njx.2 - 1 630 c.578C>A c.(577-579)CCC>CAC p.P193H NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 193 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 AACTGCCTTGGGCTTGGCAGG 0.572 NA 19 77 1.26e-06 1.56e-06 1 0 PPP1R10 5514 broad.mit.edu 37 6 30574254 30574254 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:30574254G>A uc003nqn.1 - 8 1177 c.625C>T c.(625-627)CGT>TGT p.R209C PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 209 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 CCAGTGGAACGGAACTTGGCA 0.567 NA 12 78 0 0 0 0 VPS52 6293 broad.mit.edu 37 6 33236966 33236966 + Nonsense_Mutation SNP G G A rs148755872 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:33236966G>A uc003odm.1 - 6 583 c.373C>T c.(373-375)CGA>TGA p.R125* VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_Nonsense_Mutation_p.R50*|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 125 Potential. protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 TGCTCCATTCGCTGTAGGGAG 0.498 NA 7 99 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51923195 51923195 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:51923195G>T uc003pah.1 - 16 1714 c.1438C>A c.(1438-1440)CCT>ACT p.P480T PKHD1_uc003pai.2_Missense_Mutation_p.P480T NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 480 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ACCACATCAGGATTCAGCCAG 0.552 NA 29 94 3.65e-15 4.72e-15 1 0 PHF3 23469 broad.mit.edu 37 6 64416739 64416739 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:64416739A>G uc003pep.1 + 12 3710 c.3684A>G c.(3682-3684)GTA>GTG p.V1228V PHF3_uc010kah.1_Silent_p.V1042V|PHF3_uc003pen.2_Silent_p.V1140V|PHF3_uc011dxs.1_Silent_p.V497V NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1228 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCTATCCAGTATCTGGCTCCC 0.398 NA 29 102 0 0 0 0 SLC16A10 117247 broad.mit.edu 37 6 111409193 111409193 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:111409193T>C uc003pus.2 + 1 413 c.238T>C c.(238-240)TGC>CGC p.C80R SLC16A10_uc003pur.3_Missense_Mutation_p.C80R NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 80 Helical; (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GGCCATGTGGTGCAACGGGTC 0.662 NA 6 20 0 0 0 0 FABP7 2173 broad.mit.edu 37 6 123101594 123101594 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:123101594G>T uc003pzf.2 + 2 526 c.232G>T c.(232-234)GAT>TAT p.D78Y FABP7_uc003pzd.2_Missense_Mutation_p.D78Y|FABP7_uc003pze.1_Missense_Mutation_p.D78Y NM_001446 NP_001437 O15540 FABP7_HUMAN fatty acid binding protein 7, brain 78 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity 0 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) CACTGCAGATGATAGAAACTG 0.413 NA 3 29 0.004672 0.0050494 1 0 EPB41L2 2037 broad.mit.edu 37 6 131191188 131191188 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:131191188C>T uc003qch.2 - 15 2304 c.2122G>A c.(2122-2124)GAA>AAA p.E708K EPB41L2_uc003qce.1_Missense_Mutation_p.E86K|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.E638K|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.E638K|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.E105K NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 708 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCATTCATTTCTTCTGTGATT 0.458 NA 5 64 0 0 0 0 EYA4 2070 broad.mit.edu 37 6 133783834 133783834 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:133783834G>T uc003qec.3 + 9 1114 c.656G>T c.(655-657)TGC>TTC p.C219F EYA4_uc011ecq.1_Missense_Mutation_p.C165F|EYA4_uc011ecr.1_Missense_Mutation_p.C165F|EYA4_uc003qed.3_Missense_Mutation_p.C219F|EYA4_uc003qee.3_Missense_Mutation_p.C196F|EYA4_uc011ecs.1_Missense_Mutation_p.C219F|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 219 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGAGTGGCTGCCTCAGTTAC 0.468 NA 13 46 6.5e-13 8.35e-13 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151152187 151152187 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:151152187G>C uc003qny.1 + 16 2252 c.1940G>C c.(1939-1941)GGG>GCG p.G647A PLEKHG1_uc011eel.1_Missense_Mutation_p.G687A|PLEKHG1_uc011eem.1_Missense_Mutation_p.G706A|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G647A NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 647 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ACTCCCTTTGGGTCATCCATA 0.448 NA 7 34 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152501328 152501328 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:152501328G>T uc010kiw.2 - 129 24005 c.23403C>A c.(23401-23403)AGC>AGA p.S7801R SYNE1_uc010kiv.2_Missense_Mutation_p.S2325R|SYNE1_uc003qos.3_Missense_Mutation_p.S2325R|SYNE1_uc003qot.3_Missense_Mutation_p.S7730R|SYNE1_uc003qou.3_Missense_Mutation_p.S7801R|SYNE1_uc003qop.3_5'Flank|SYNE1_uc011eez.1_Missense_Mutation_p.S3R|SYNE1_uc003qoq.3_Missense_Mutation_p.S3R|SYNE1_uc003qor.3_Missense_Mutation_p.S701R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7801 Spectrin 27.|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) GAGAAACTTTGCTTTCCATTT 0.403 NA HNSCC(10;0.0054) 18 75 2e-07 2.48e-07 1 0 SYNE1 23345 broad.mit.edu 37 6 152529258 152529258 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:152529258A>T uc010kiw.2 - 125 23275 c.22673T>A c.(22672-22674)ATT>AAT p.I7558N SYNE1_uc010kiv.2_Missense_Mutation_p.I2082N|SYNE1_uc003qos.3_Missense_Mutation_p.I2082N|SYNE1_uc003qot.3_Missense_Mutation_p.I7487N|SYNE1_uc003qou.3_Missense_Mutation_p.I7558N|SYNE1_uc003qor.3_Missense_Mutation_p.I458N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7558 HAT 11.|Cytoplasmic (Potential).|Spectrin 25. 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) CTGGCTGTCAATGATCCCCCG 0.502 NA HNSCC(10;0.0054) 4 39 0 0 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225151 26225151 + Silent SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:26225151T>C uc003sxq.2 + 4 2105 c.1833T>C c.(1831-1833)TGT>TGC p.C611C NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 611 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 ATGATGTATGTAACTTGCAAG 0.353 NA 9 58 0 0 0 0 MLXIPL 51085 broad.mit.edu 37 7 73008629 73008629 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:73008629G>A uc003tyn.1 - 16 2463 c.2415C>T c.(2413-2415)TAC>TAT p.Y805Y MLXIPL_uc003tyj.1_Silent_p.Y184Y|MLXIPL_uc003tyk.1_Silent_p.Y784Y|MLXIPL_uc003tyl.1_Silent_p.Y803Y|MLXIPL_uc003tym.1_Silent_p.Y786Y|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Silent_p.Y711Y NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 805 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) GCAGAGAGCAGTACTGGTCCA 0.627 NA 14 56 0 0 0 0 ABHD11 83451 broad.mit.edu 37 7 73151996 73151996 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:73151996T>A uc003tzb.2 - 3 415 c.358A>T c.(358-360)AGC>TGC p.S120C RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Missense_Mutation_p.S120C|ABHD11_uc003tzc.2_Missense_Mutation_p.S113C|ABHD11_uc003tza.2_Missense_Mutation_p.S7C NM_148912 NP_683710 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 isoform 1 120 hydrolase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) AGGTCCTGGCTCATGATCTCG 0.637 NA 4 31 0 0 0 0 FZD1 8321 broad.mit.edu 37 7 90895658 90895658 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:90895658G>T uc003ula.2 + 1 1876 c.1463G>T c.(1462-1464)CGT>CTT p.R488L NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 488 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GACGCGCTGCGTGGCTTCGTG 0.622 NA 32 165 6.01e-18 7.82e-18 1 0 CCDC132 55610 broad.mit.edu 37 7 92905556 92905556 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:92905556A>T uc003umo.2 + 12 1009 c.881A>T c.(880-882)GAA>GTA p.E294V CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.E264V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.E294V NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 294 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GGTTATGTGGAACTATGTGCA 0.378 NA 29 90 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94058730 94058730 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:94058730A>G uc003ung.1 + 51 4413 c.3942A>G c.(3940-3942)GTA>GTG p.V1314V COL1A2_uc011kib.1_Silent_p.V166V NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1314 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGTTCTTGTAGATGGCTGCT 0.478 NA HNSCC(75;0.22) 7 59 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103207056 103207056 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:103207056G>C uc003vca.2 - 32 4899 c.4739C>G c.(4738-4740)CCG>CGG p.P1580R RELN_uc010liz.2_Missense_Mutation_p.P1580R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1580 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACCATGTTGCGGTTGCCACCA 0.483 NA 14 43 0 0 0 0 PAX4 5078 broad.mit.edu 37 7 127251714 127251714 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:127251714A>G uc010lld.1 - 8 970 c.764T>C c.(763-765)GTG>GCG p.V255A PAX4_uc003vmf.2_Missense_Mutation_p.V253A|PAX4_uc003vmg.1_Missense_Mutation_p.V255A NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 263 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGCTGTGGGCACACTGCCAGG 0.582 NA 15 71 0 0 0 0 CREB3L2 64764 broad.mit.edu 37 7 137567275 137567275 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:137567275G>A uc003vtw.2 - 11 1765 c.1370C>T c.(1369-1371)TCC>TTC p.S457F CREB3L2_uc003vtv.2_Missense_Mutation_p.S394F NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 457 Lumenal (Potential). chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1) 160 GAGCAGGGAGGAACCTCTATC 0.582 NA T FUS fibromyxoid sarcoma 6 42 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138604033 138604033 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:138604033C>T uc011kql.1 - 2 388 c.339G>A c.(337-339)CCG>CCA p.P113P KIAA1549_uc003vuk.3_Silent_p.P63P|KIAA1549_uc011kqj.1_Silent_p.P113P NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 113 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TAGTGGCAGACGGCGGGGCTG 0.517 NA O BRAF pilocytic astrocytoma 11 95 0 0 0 0 OR6V1 346517 broad.mit.edu 37 7 142749510 142749510 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:142749510C>T uc011ksv.1 + 1 73 c.73C>T c.(73-75)CTG>TTG p.L25L NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 25 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) GCAGGCCCTTCTGTATGGCCC 0.512 NA 4 154 0 0 0 0 C7orf33 202865 broad.mit.edu 37 7 148288032 148288032 + Silent SNP T T G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:148288032T>G uc003wew.2 + 1 376 c.15T>G c.(13-15)GTT>GTG p.V5V NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 5 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAGTGGAAGTTCAAAGCCTCA 0.537 NA 10 37 0 0 0 0 CLVS1 157807 broad.mit.edu 37 8 62212794 62212794 + Nonsense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:62212794C>A uc003xuh.2 + 2 732 c.408C>A c.(406-408)TAC>TAA p.Y136* CLVS1_uc003xug.2_Nonsense_Mutation_p.Y136*|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Nonsense_Mutation_p.Y136* NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 136 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GAGACCATTACGGCAGGAAGA 0.443 NA 9 28 2.18e-05 2.59e-05 1 0 NCOA2 10499 broad.mit.edu 37 8 71036232 71036232 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:71036232T>A uc003xyn.1 - 21 4342 c.4180A>T c.(4180-4182)ATG>TTG p.M1394L NCOA2_uc011lfb.1_Missense_Mutation_p.M482L NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1394 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTGGTCGCCATGGACACATTG 0.517 NA T RUNXBP2 AML 6 30 0 0 0 0 C8orf37 157657 broad.mit.edu 37 8 96259940 96259940 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:96259940G>A uc003yho.1 - 6 549 c.529C>T c.(529-531)CGG>TGG p.R177W NM_177965 NP_808880 Q96NL8 CH037_HUMAN hypothetical protein LOC157657 177 0 Breast(36;3.41e-05) GCATATGCCCGTGTTCCTTTC 0.393 NA 7 45 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 114449052 114449052 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:114449052G>C uc003ynu.2 - 1 191 c.32C>G c.(31-33)GCA>GGA p.A11G CSMD3_uc011lhx.1_Missense_Mutation_p.A11G|CSMD3_uc010mcx.1_Missense_Mutation_p.A11G|CSMD3_uc003ynx.3_Missense_Mutation_p.A11G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 11 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGATTCCTTTGCTCGGCTTTC 0.517 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) OREG0018933 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 79 0 0 0 0 ENPP2 5168 broad.mit.edu 37 8 120595959 120595959 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:120595959C>G uc003yot.1 - 17 1627 c.1541G>C c.(1540-1542)TGT>TCT p.C514S ENPP2_uc011lic.1_Missense_Mutation_p.C31S|ENPP2_uc003yor.1_Missense_Mutation_p.C153S|ENPP2_uc003yos.1_Missense_Mutation_p.C566S|ENPP2_uc010mdd.1_Missense_Mutation_p.C514S NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 514 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGACTTACCACACATAACATT 0.318 NA 10 63 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139649017 139649017 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:139649017C>T uc003yvd.2 - 48 3970 c.3523G>A c.(3523-3525)GCA>ACA p.A1175T COL22A1_uc011ljo.1_Missense_Mutation_p.A455T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1175 Pro-rich.|Gly-rich.|Collagen-like 11. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCACCATCTGCACCACGTTCT 0.373 NA HNSCC(7;0.00092) 33 162 0 0 0 0 SPATC1 375686 broad.mit.edu 37 8 145095233 145095233 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:145095233A>T uc011lkw.1 + 2 737 c.635A>T c.(634-636)AAC>ATC p.N212I SPATC1_uc011lkx.1_Missense_Mutation_p.N212I NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 212 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCTCTCAGAACCTGCTGGCC 0.687 NA 5 56 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35707795 35707795 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:35707795T>A uc003zxt.2 - 35 4919 c.4565A>T c.(4564-4566)AAG>ATG p.K1522M NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1522 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AAACTGGCGCTTGGCAGTAGG 0.547 NA 73 132 0 0 0 0 TRIM14 9830 broad.mit.edu 37 9 100862405 100862405 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:100862405G>A uc004ayd.2 - 3 363 c.345C>T c.(343-345)TTC>TTT p.F115F TRIM14_uc004ayf.1_Silent_p.F22F|TRIM14_uc004ayg.1_Silent_p.F115F|TRIM14_uc004ayh.1_Silent_p.F115F|TRIM14_uc004ayi.1_Silent_p.F115F|TRIM14_uc004ayj.1_Silent_p.F22F NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 115 cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGAGTTCAGTGAATTTCCCCT 0.353 NA 14 71 0 0 0 0 INVS 27130 broad.mit.edu 37 9 103046750 103046750 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:103046750C>T uc004bap.1 + 13 2145 c.1933C>T c.(1933-1935)CCT>TCT p.P645S INVS_uc011lve.1_Missense_Mutation_p.P549S|INVS_uc004bao.1_Missense_Mutation_p.P645S|INVS_uc004baq.1_Missense_Mutation_p.P549S|INVS_uc004bar.1_Missense_Mutation_p.P549S|INVS_uc010mtb.1_Missense_Mutation_p.P319S NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 645 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) CAAGCAGCCTCCTGCTGGCAA 0.652 NA 9 40 0 0 0 0 SEC16A 9919 broad.mit.edu 37 9 139345823 139345823 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:139345823G>C uc004chx.2 - 23 6506 c.6197C>G c.(6196-6198)CCA>CGA p.P2066R SEC16A_uc004chr.2_5'Flank|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Missense_Mutation_p.P97R|SEC16A_uc004chu.2_Missense_Mutation_p.P251R|SEC16A_uc004chv.3_Missense_Mutation_p.P1456R|SEC16A_uc004chw.2_Missense_Mutation_p.P2066R|SEC16A_uc010nbn.2_Missense_Mutation_p.P2066R NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1888 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ATCCCACCCTGGGGGGGCCTC 0.632 NA 3 23 0 0 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221839 118221839 + Silent SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chrX:118221839C>A uc004era.3 - 11 3354 c.3354G>T c.(3352-3354)CTG>CTT p.L1118L NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1118 ovary(4)|skin(1) 5 GTCTGGGAAGCAGCTGCTCCT 0.488 NA 6 77 0.00116845 0.0013065 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105434423 105434423 + Frame_Shift_Del DEL C C - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:105434423delC uc001tlc.2 - 16 2040 c.1913delG c.(1912-1914)GGCfs p.G638fs ALDH1L2_uc009zuo.2_Frame_Shift_Del_p.G93fs|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 638 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 CTTTGGAAAGCCTGCTTTCAC 0.483 NA 36 420 --- --- --- --- NA NA NA NA WDR72 256764 broad.mit.edu 37 15 53889325 53889325 + Frame_Shift_Del DEL C C - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:53889325delC uc002acj.2 - 18 3141 c.3099delG c.(3097-3099)TGGfs p.W1033fs NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1033 lung(1)|skin(1) 2 all cancers(107;0.0511) GTTCTTCTGTCCATTCCAGCT 0.393 NA 40 231 --- --- --- --- NA NA NA NA ZNF132 7691 broad.mit.edu 37 19 58945525 58945526 + Frame_Shift_Ins INS - - T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:58945525_58945526insT uc002qst.3 - 3 1686_1687 c.1285_1286insA c.(1285-1287)AGAfs p.R429fs NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 429 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TTCATACGGTCTTTCTCCAGTG 0.465 NA 9 95 --- --- --- --- NA NA NA NA HMGXB4 10042 broad.mit.edu 37 22 35689036 35689037 + Frame_Shift_Del DEL TG TG - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr22:35689036_35689037delTG uc003anl.2 + 10 1864_1865 c.1690_1691delTG c.(1690-1692)TGTfs p.C564fs HMGXB4_uc003ank.2_Frame_Shift_Del_p.C455fs NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN high-mobility group protein 2-like 1 564 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|skin(1) 2 TTCCATTATCTGTGCCCTTGGC 0.49 NA 12 76 --- --- --- --- NA NA NA NA CNTN6 27255 broad.mit.edu 37 3 1363354 1363355 + Frame_Shift_Ins INS - - GA TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:1363354_1363355insGA uc003boz.2 + 8 1049_1050 c.782_783insGA c.(781-783)TGGfs p.W261fs CNTN6_uc011asj.1_Frame_Shift_Ins_p.W189fs|CNTN6_uc003bpa.2_Frame_Shift_Ins_p.W261fs NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 261 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GATATTAGTTGGAGAAGGTTGG 0.416 NA 20 124 --- --- --- --- NA NA NA NA