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 TNR 7143 broad.mit.edu 37 1 175334302 175334302 + Silent SNP T T G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr1:175334302T>G uc001gkp.1 - 10 2512 c.2431A>C c.(2431-2433)AGG>CGG p.R811R TNR_uc009wwu.1_Silent_p.R811R NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 811 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCTCATCCCTGGGGCTGTAG 0.522 NA 17 48 0 0 0 0 NUAK2 81788 broad.mit.edu 37 1 205290569 205290569 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr1:205290569G>A uc001hce.2 - 1 315 c.188C>T c.(187-189)ACC>ATC p.T63I NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 63 Protein kinase.|ATP (By similarity). actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CTTCCCGTAGGTGCCTTTGCC 0.697 NA 7 42 0 0 0 0 EFCAB4A 283229 broad.mit.edu 37 11 828915 828915 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr11:828915C>T uc001lrv.2 + 2 607 c.229C>T c.(229-231)CGG>TGG p.R77W EFCAB4A_uc010qwt.1_Missense_Mutation_p.R77W|EFCAB4A_uc009ycm.1_Missense_Mutation_p.R77W|EFCAB4A_uc001lrw.2_5'Flank Q8N4Y2 EFC4A_HUMAN RecName: Full=EF-hand calcium-binding domain-containing protein 4A; 77 EF-hand 2. store-operated calcium entry calcium ion binding 0 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGTCTGGACCGGGCTCACAC 0.657 NA 7 91 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68548198 68548198 + Silent SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr11:68548198C>T uc001oog.3 - 12 1538 c.1368G>A c.(1366-1368)TCG>TCA p.S456S CPT1A_uc001oof.3_Silent_p.S456S|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 456 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CAAACGTGAACGACTTGTCAA 0.493 NA 15 53 0 0 0 0 UCP3 7352 broad.mit.edu 37 11 73717220 73717220 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr11:73717220C>T uc001our.2 - 3 686 c.331G>A c.(331-333)GCG>ACG p.A111T UCP3_uc001ous.2_Missense_Mutation_p.A111T NM_003356 NP_003347 P55916 UCP3_HUMAN uncoupling protein 3 isoform UCP3L 111 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding pancreas(1) 1 Breast(11;2.08e-05) TCACTGTCCGCGCCTTTGGGG 0.612 NA 15 34 0 0 0 0 UPF3A 65110 broad.mit.edu 37 13 115048325 115048325 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr13:115048325C>T uc001vup.2 + 3 365 c.328C>T c.(328-330)CTC>TTC p.L110F UPF3A_uc010tkn.1_Missense_Mutation_p.L110F|UPF3A_uc001vuq.2_Missense_Mutation_p.L110F|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 110 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) TTATCCTCATCTCTACTCAAG 0.343 NA 8 45 0 0 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85165178 85165178 + Silent SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr15:85165178G>A uc002bkr.2 + 3 1978 c.1752G>A c.(1750-1752)AAG>AAA p.K584K ZSCAN2_uc010bmz.1_Silent_p.K582K|ZSCAN2_uc010bna.2_Silent_p.K434K|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 584 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CTGGGGAGAAGCCCTACAAAT 0.483 NA 10 71 0 0 0 0 C15orf32 145858 broad.mit.edu 37 15 93015669 93015669 + Silent SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr15:93015669G>A uc002brc.1 + 1 763 c.291G>A c.(289-291)CTG>CTA p.L97L C15orf32_uc010bod.1_RNA NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 97 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) GTTTGATGCTGAAGCCAACAT 0.294 NA 4 75 0 0 0 0 ZNF434 54925 broad.mit.edu 37 16 3433182 3433182 + Missense_Mutation SNP C C A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr16:3433182C>A uc002cuz.2 - 6 1930 c.1128G>T c.(1126-1128)CAG>CAT p.Q376H ZNF434_uc002cux.3_Missense_Mutation_p.Q587H|ZNF434_uc010uwx.1_Missense_Mutation_p.Q299H|ZNF434_uc002cuy.3_Missense_Mutation_p.Q299H NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 376 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGCTGGAACTCTGGTTGAAGC 0.532 NA 18 61 7.08e-05 0.000106139 1 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 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) 16 9 0 0 0 0 ALOXE3 59344 broad.mit.edu 37 17 8000028 8000028 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:8000028C>T uc010cnr.2 - 16 2423 c.2053G>A c.(2053-2055)GAC>AAC p.D685N ALOXE3_uc002gka.2_Missense_Mutation_p.D841N|ALOXE3_uc010vuo.1_Missense_Mutation_p.D817N NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 685 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 TCCTGGATGTCCCTTGAGATC 0.632 NA 7 138 0 0 0 0 CCL3 6348 broad.mit.edu 37 17 34416628 34416628 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:34416628G>A uc002hkv.2 - 2 191 c.89C>T c.(88-90)CCG>CTG p.P30L NM_002983 NP_002974 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 30 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCAGGCGGTCGGCGTGTCAGC 0.552 NA 14 147 0 0 0 0 KRT28 162605 broad.mit.edu 37 17 38950249 38950249 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:38950249G>A uc002hvh.1 - 6 1094 c.1028C>T c.(1027-1029)ACG>ATG p.T343M NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 343 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CGCCAGCTGCGTACAGTAGTT 0.572 NA 39 154 0 0 0 0 SEPT4 5414 broad.mit.edu 37 17 56604314 56604314 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:56604314G>A uc002iwm.1 - 2 214 c.86C>T c.(85-87)ACG>ATG p.T29M SEPT4_uc002iwk.1_Translation_Start_Site|SEPT4_uc010wnw.1_Translation_Start_Site|SEPT4_uc002iwl.1_Translation_Start_Site|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Missense_Mutation_p.T10M|SEPT4_uc002iwp.1_Missense_Mutation_p.T10M|SEPT4_uc010wnx.1_Missense_Mutation_p.T44M|SEPT4_uc010wny.1_Missense_Mutation_p.T21M|SEPT4_uc010dcy.1_Intron NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 29 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCATCATCCGTGGTGTCCTC 0.478 NA 13 129 0 0 0 0 PIAS4 51588 broad.mit.edu 37 19 4013192 4013192 + Missense_Mutation SNP C C T rs2289867 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr19:4013192C>T uc002lzg.2 + 2 309 c.299C>T c.(298-300)CCG>CTG p.P100L NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 100 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGGACTCCGCTGGCAGGC 0.652 NA 5 88 0 0 0 0 CLC 1178 broad.mit.edu 37 19 40224981 40224981 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr19:40224981G>A uc002omh.2 - 3 321 c.245C>T c.(244-246)CCC>CTC p.P82L NM_001828 NP_001819 Q05315 LPPL_HUMAN Charcot-Leyden crystal protein 82 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding 0 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) ATCCTGAAAGGGCATATTCTT 0.537 NA 9 90 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241658530 241658530 + Missense_Mutation SNP G G T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr2:241658530G>T uc002vzy.2 - 45 4950 c.4804C>A c.(4804-4806)CCC>ACC p.P1602T KIF1A_uc010fzk.2_Missense_Mutation_p.P1703T|KIF1A_uc002vzw.2_Missense_Mutation_p.P263T|KIF1A_uc002vzx.2_Missense_Mutation_p.P329T NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1602 PH. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TAGGCATAGGGGCGCCGCACC 0.617 NA 8 93 1.13e-05 1.71e-05 1 0 APCDD1L 164284 broad.mit.edu 37 20 57035926 57035926 + Missense_Mutation SNP G G C TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr20:57035926G>C uc002xze.1 - 4 1612 c.1426C>G c.(1426-1428)CCC>GCC p.P476A APCDD1L_uc010zzp.1_Missense_Mutation_p.P487A NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 476 integral to membrane ovary(1) 1 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CCTGTGCTGGGGTGCTTCTGC 0.612 NA 12 55 0 0 0 0 MORC2 22880 broad.mit.edu 37 22 31328614 31328614 + Missense_Mutation SNP A A C TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr22:31328614A>C uc003aje.1 - 24 3843 c.2479T>G c.(2479-2481)TCC>GCC p.S827A NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 889 ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 AGGCATTCGGAAGTGGAGGGC 0.592 NA 8 62 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707784 126707784 + Missense_Mutation SNP G G T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr3:126707784G>T uc003ejg.2 + 1 283 c.279G>T c.(277-279)AAG>AAT p.K93N NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 116 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) ACGTCAACAAGCTGCTGCTGC 0.647 NA 8 55 1.13e-05 1.71e-05 1 0 UGT2B4 7363 broad.mit.edu 37 4 70355227 70355227 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr4:70355227G>A uc003hek.3 - 3 979 c.932C>T c.(931-933)TCG>TTG p.S311L UGT2B4_uc011cap.1_Missense_Mutation_p.S175L|UGT2B4_uc003hel.3_Missense_Mutation_p.S311L NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 311 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 ACTGACCATCGACCCCAGAGA 0.373 NA 40 166 0 0 0 0 STC2 8614 broad.mit.edu 37 5 172755126 172755126 + Missense_Mutation SNP C C A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr5:172755126C>A uc003mco.1 - 1 1381 c.71G>T c.(70-72)GGG>GTG p.G24V STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 24 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCGTCGGTCCCCCGCGCCGG 0.637 NA 18 78 3.33e-07 5.25e-07 1 0 SKIV2L 6499 broad.mit.edu 37 6 31928456 31928456 + Silent SNP A A G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:31928456A>G uc003nyn.1 + 6 872 c.483A>G c.(481-483)GAA>GAG p.E161E RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Silent_p.E3E|SKIV2L_uc011dov.1_Intron NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 161 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GGATGGATGAACCCACCATAA 0.527 NA 36 127 0 0 0 0 SKIV2L 6499 broad.mit.edu 37 6 31931705 31931705 + Silent SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:31931705C>T uc003nyn.1 + 16 2052 c.1663C>T c.(1663-1665)CTG>TTG p.L555L SKIV2L_uc011dou.1_Silent_p.L397L|SKIV2L_uc011dov.1_Silent_p.L362L NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 555 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CGGAGTGTACCTGTCCCTCCT 0.622 NA 66 165 0 0 0 0 SCUBE3 222663 broad.mit.edu 37 6 35209013 35209013 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:35209013C>T uc003okf.1 + 10 1171 c.1165C>T c.(1165-1167)CGG>TGG p.R389W SCUBE3_uc003okg.1_Missense_Mutation_p.R388W|SCUBE3_uc003okh.1_Missense_Mutation_p.R276W NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 389 EGF-like 9; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AGGCCAGGGTCGGCTGCACTG 0.582 NA OREG0017372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 99 0 0 0 0 FAM188B 84182 broad.mit.edu 37 7 30830851 30830851 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:30830851G>A uc003tbt.2 + 5 811 c.734G>A c.(733-735)AGC>AAC p.S245N FAM188B_uc010kwe.2_Missense_Mutation_p.S216N NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 245 0 CAAGAAGAGAGCCGGAAGGTC 0.547 NA 16 133 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48390325 48390325 + Silent SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:48390325C>T uc003toq.2 + 30 10315 c.10290C>T c.(10288-10290)TGC>TGT p.C3430C ABCA13_uc010kys.1_Silent_p.C504C|ABCA13_uc003tos.1_Silent_p.C256C NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3430 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TCTCTTCCTGCGTGGCACTGA 0.522 NA 34 70 0 0 0 0 SEMA3D 223117 broad.mit.edu 37 7 84651711 84651711 + Silent SNP T T G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:84651711T>G uc003uic.2 - 11 1450 c.1410A>C c.(1408-1410)GGA>GGC p.G470G SEMA3D_uc010led.2_Silent_p.G470G|SEMA3D_uc003uib.2_Silent_p.G109G NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 470 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 GCTTACCTGTTCCAAGAAACA 0.333 NA 20 124 0 0 0 0 ERICH1 157697 broad.mit.edu 37 8 642491 642491 + Silent SNP C C G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr8:642491C>G uc003wph.2 - 3 356 c.291G>C c.(289-291)GGG>GGC p.G97G ERICH1_uc011kwh.1_Silent_p.G97G|ERICH1_uc003wpe.1_Intron NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 97 large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CTGTGTCATCCCCGCTGGAGG 0.557 NA 6 88 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92988161 92988161 + Silent SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr8:92988161G>A uc003yfd.2 - 9 1404 c.1320C>T c.(1318-1320)TAC>TAT p.Y440Y RUNX1T1_uc003yfc.1_Silent_p.Y413Y|RUNX1T1_uc003yfe.1_Silent_p.Y403Y|RUNX1T1_uc010mao.2_Silent_p.Y413Y|RUNX1T1_uc011lgi.1_Silent_p.Y451Y|RUNX1T1_uc010man.1_Silent_p.Y65Y|RUNX1T1_uc003yfb.1_Silent_p.Y403Y NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 440 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCTCTGGCACGTATCCAGACG 0.483 NA 25 143 0 0 0 0 NR6A1 2649 broad.mit.edu 37 9 127287138 127287138 + Missense_Mutation SNP T T G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr9:127287138T>G uc004bor.1 - 9 1394 c.1216A>C c.(1216-1218)ACC>CCC p.T406P NR6A1_uc004boq.1_Missense_Mutation_p.T401P|NR6A1_uc010mwq.1_Missense_Mutation_p.T402P NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 406 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GAGGCACTGGTCAGACCCCTG 0.413 NA 11 22 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152188526 152188527 + Frame_Shift_Ins INS - - G rs145041332 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr1:152188526_152188527insG uc001ezt.1 - 3 5654_5655 c.5578_5579insC c.(5578-5580)CGAfs p.R1860fs NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1860 20 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCCATGTCGGCCACTGCTG 0.594 NA 12 793 --- --- --- --- NA NA NA NA MAPRE1 22919 broad.mit.edu 37 20 31424527 31424528 + Frame_Shift_Del DEL TA TA - rs142135206 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr20:31424527_31424528delTA uc002wyh.2 + 4 494_495 c.355_356delTA c.(355-357)TATfs p.Y119fs NM_012325 NP_036457 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, 119 cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding 0 CGATGCAAACTATGATGGAAAA 0.411 NA 14 111 --- --- --- --- NA NA NA NA ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:6621848_6621849insT uc003sqi.2 + 6 694_695 c.336_337insT c.(334-339)CTGTTTfs p.L112fs ZDHHC4_uc003sqg.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sql.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqk.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqm.2_Frame_Shift_Ins_p.L112fs NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112_113 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.45 NA 7 258 --- --- --- --- NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21971048 21971058 + Frame_Shift_Del DEL GCCGCGCCCCG GCCGCGCCCCG - rs143282362 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr9:21971048_21971058delGCCGCGCCCCG uc003zpk.2 - 2 512_522 c.300_310delCGGGGCGCGGC c.(298-312)GCCGGGGCGCGGCTGfs p.A100fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.R156fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 100_104 ANK 3. Missing. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.G101G(3)|p.A100S(3)|p.A102V(3)|p.L104fs*42(2)|p.A102A(2)|p.A102E(2)|p.A100P(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCACGTCCAGCCGCGCCCCGGCCCGGTGCA 0.758 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 38 --- --- --- --- NA NA NA NA ZNF185 7739 broad.mit.edu 37 X 152083334 152083334 + Frame_Shift_Del DEL A A - TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chrX:152083334delA uc010ntv.1 + 2 152 c.115delA c.(115-117)AAGfs p.K39fs ZNF185_uc011myg.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myh.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myi.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myj.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myk.1_Frame_Shift_Del_p.K39fs NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 39 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAAGGGGGACAAGAGCTGGAT 0.607 NA 2 4 --- --- --- --- NA NA NA NA