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 CDK11B 984 broad.mit.edu 37 1 1650803 1650803 + Missense_Mutation SNP C C G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:1650803C>G uc001agv.1 - 6 430 c.319G>C c.(319-321)GAG>CAG p.E107Q CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.E73Q|CDK11B_uc001agw.1_Missense_Mutation_p.E73Q|CDK11B_uc001agy.1_Missense_Mutation_p.E107Q|CDK11B_uc001agx.1_Missense_Mutation_p.E107Q|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.E107Q|CDK11A_uc009vks.2_Missense_Mutation_p.E107Q|CDK11A_uc010nys.1_Missense_Mutation_p.E107Q|CDK11A_uc010nyt.1_Missense_Mutation_p.E107Q|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.E107Q|CDK11A_uc009vku.1_Missense_Mutation_p.E107Q|CDK11A_uc009vkv.1_Missense_Mutation_p.E107Q|CDK11A_uc001aht.1_Missense_Mutation_p.E107Q|CDK11B_uc001ahu.1_Missense_Mutation_p.E107Q|CDK11B_uc001ahv.1_Missense_Mutation_p.E107Q|CDK11B_uc001ahw.1_Missense_Mutation_p.E107Q NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 107 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 CTACATTTTTCTTTTCTCTTT 0.388 NA 38 127 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103461591 103461591 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:103461591G>A uc001dul.2 - 27 2567 c.2249C>T c.(2248-2250)CCT>CTT p.P750L COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P762L|COL11A1_uc001dun.2_Missense_Mutation_p.P711L|COL11A1_uc009weh.2_Missense_Mutation_p.P634L NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 750 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTGGACCAGGGGGACCCTG 0.358 NA 23 87 0 0 0 0 PMVK 10654 broad.mit.edu 37 1 154897618 154897618 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:154897618C>T uc001ffq.2 - 5 889 c.566G>A c.(565-567)CGC>CAC p.R189H NM_006556 NP_006547 Q15126 PMVK_HUMAN phosphomevalonate kinase 189 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding 0 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAGTCTGGAGCGGATAAATTC 0.572 NA 68 116 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181767512 181767512 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:181767512G>A uc001gow.2 + 47 6520 c.6355G>A c.(6355-6357)GTC>ATC p.V2119I CACNA1E_uc009wxs.2_Missense_Mutation_p.V2007I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V1388I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2162 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GCTCCCACCCGTCCCGCCAAA 0.627 NA 43 94 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198711143 198711143 + Missense_Mutation SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:198711143T>C uc001gur.1 + 24 2723 c.2543T>C c.(2542-2544)GTG>GCG p.V848A PTPRC_uc001gus.1_Missense_Mutation_p.V800A|PTPRC_uc001gut.1_Missense_Mutation_p.V687A NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 848 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GGTCCCATTGTGGTGCACTGC 0.473 NA 5 22 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16942822 16942822 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr10:16942822G>A uc001ioo.2 - 53 8264 c.8212C>T c.(8212-8214)CCC>TCC p.P2738S CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.P94S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2738 CUB 20. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTGTATGGGGTTCAATATCA 0.433 NA 3 29 0 0 0 0 POLR2L 5441 broad.mit.edu 37 11 840466 840466 + Missense_Mutation SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr11:840466G>T uc001lsc.2 - 2 131 c.110C>A c.(109-111)GCC>GAC p.A37D TSPAN4_uc001lsd.1_5'Flank|TSPAN4_uc001lse.1_5'Flank|TSPAN4_uc001lsf.1_5'Flank|TSPAN4_uc001lsg.1_5'Flank|TSPAN4_uc001lsh.1_5'Flank NM_021128 NP_066951 P62875 RPAB5_HUMAN DNA directed RNA polymerase II polypeptide L 37 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc 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;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGGCCCAGGGCATCCAGCGC 0.622 NA 41 75 7.53e-24 8.83e-24 1 0 FAM90A1 55138 broad.mit.edu 37 12 8375146 8375146 + Missense_Mutation SNP G G C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr12:8375146G>C uc001qui.2 - 7 1226 c.667C>G c.(667-669)CTC>GTC p.L223V FAM90A1_uc001quh.2_Missense_Mutation_p.L223V NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 223 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) ACCACGAGGAGAGGCTCGGGG 0.647 NA 33 57 0 0 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57988994 57988994 + Nonsense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr12:57988994C>T uc001sou.2 + 3 489 c.358C>T c.(358-360)CAA>TAA p.Q120* PIP4K2C_uc001sot.2_Nonsense_Mutation_p.Q120*|PIP4K2C_uc010srs.1_Nonsense_Mutation_p.Q102*|PIP4K2C_uc010srt.1_Nonsense_Mutation_p.Q120* NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 120 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) CATTGATGACCAAGATTACTT 0.463 NA 130 147 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23906082 23906082 + Missense_Mutation SNP A A C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr13:23906082A>C uc001uon.2 - 10 12522 c.11933T>G c.(11932-11934)CTT>CGT p.L3978R SACS_uc001uoo.2_Missense_Mutation_p.L3831R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3978 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTGTTCTTCAAGTATACTGCT 0.398 NA 23 79 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23445688 23445688 + Missense_Mutation SNP A A T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr14:23445688A>T uc001whz.2 - 4 1592 c.1216T>A c.(1216-1218)TGT>AGT p.C406S JUB_uc001why.2_5'UTR NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 406 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) AAGTGACCACAGACACAGCAT 0.453 NA 114 60 0 0 0 0 ACOT1 641371 broad.mit.edu 37 14 74004392 74004392 + Silent SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr14:74004392C>T uc001xol.1 + 1 465 c.267C>T c.(265-267)CCC>CCT p.P89P HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.P89P NM_001037161 NP_001032238 Q86TX2 ACOT1_HUMAN acyl-CoA thioesterase 1 89 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process cytosol carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CCGAGAAACCCTTGGTGCGGC 0.736 NA 4 16 0 0 0 0 CDAN1 146059 broad.mit.edu 37 15 43023151 43023151 + Missense_Mutation SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr15:43023151T>C uc001zql.2 - 13 2096 c.1979A>G c.(1978-1980)CAG>CGG p.Q660R CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 660 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) AATGGAGTCCTGAAGCTCACC 0.607 NA 4 132 0 0 0 0 ISL2 64843 broad.mit.edu 37 15 76633517 76633517 + Missense_Mutation SNP C C G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr15:76633517C>G uc002bbw.1 + 5 916 c.838C>G c.(838-840)CCC>GCC p.P280A NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 280 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGCGGGCAGTCCCATCCGCCA 0.657 NA 15 29 0 0 0 0 SEPX1 51734 broad.mit.edu 37 16 1991308 1991308 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:1991308C>T uc010uvs.1 - 2 291 c.154G>A c.(154-156)GCC>ACC p.A52T NM_016332 NP_057416 Q9NZV6 MSRB1_HUMAN selenoprotein X, 1 52 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding ovary(1) 1 L-Methionine(DB00134) ACGCTGTCGGCGTGAATGGTC 0.622 NA 7 50 0 0 0 0 CYLD 1540 broad.mit.edu 37 16 50816274 50816274 + Missense_Mutation SNP A A T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:50816274A>T uc002egp.1 + 11 2138 c.1723A>T c.(1723-1725)ACT>TCT p.T575S CYLD_uc002ego.2_Missense_Mutation_p.T572S|CYLD_uc010cbs.1_Missense_Mutation_p.T572S|CYLD_uc002egq.1_Missense_Mutation_p.T572S|CYLD_uc002egr.1_Missense_Mutation_p.T572S|CYLD_uc002egs.1_Missense_Mutation_p.T572S NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 575 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) AGAAGAAAATACTCCACCAAA 0.303 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 12 21 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr17:7578550G>T uc002gim.2 - 5 574 c.380C>A c.(379-381)TCC>TAC p.S127Y TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 127 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(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) GAGGGCAGGGGAGTACTGTAG 0.552 111 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) 21 29 1.02e-10 1.16e-10 1 0 ARMC6 93436 broad.mit.edu 37 19 19162842 19162842 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr19:19162842C>T uc002nld.2 + 5 1039 c.691C>T c.(691-693)CAT>TAT p.H231Y ARMC6_uc002nlc.2_Missense_Mutation_p.H206Y|ARMC6_uc010xql.1_Missense_Mutation_p.H138Y|ARMC6_uc002nle.2_Missense_Mutation_p.H206Y|ARMC6_uc010xqm.1_Missense_Mutation_p.H231Y NM_033415 NP_219483 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 231 ARM 1. protein binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) TGCCATCACCCATCATGGCCA 0.592 NA 7 44 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38991629 38991629 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr19:38991629C>T uc002oit.2 + 47 7743 c.7613C>T c.(7612-7614)ACG>ATG p.T2538M RYR1_uc002oiu.2_Missense_Mutation_p.T2538M|RYR1_uc002oiv.1_Translation_Start_Site NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2538 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGCTGGACACGGTGAGCAAC 0.612 NA 8 14 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33623487 33623487 + Missense_Mutation SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:33623487T>C uc002ros.2 + 34 5044 c.5044T>C c.(5044-5046)TGC>CGC p.C1682R LTBP1_uc002rot.2_Missense_Mutation_p.C1356R|LTBP1_uc002rou.2_Missense_Mutation_p.C1355R|LTBP1_uc002rov.2_Missense_Mutation_p.C1302R|LTBP1_uc010ymz.1_Missense_Mutation_p.C1313R|LTBP1_uc010yna.1_Missense_Mutation_p.C1260R|LTBP1_uc010ynb.1_Missense_Mutation_p.C579R NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1681 EGF-like 18; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAATGCCAAGTGCATTAACAC 0.438 NA 40 50 0 0 0 0 CYP27C1 339761 broad.mit.edu 37 2 127958736 127958736 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:127958736C>T uc002tod.2 - 3 481 c.350G>A c.(349-351)CGG>CAG p.R117Q NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 117 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) GCAGAATTCCCGCCAGGGCTT 0.522 NA 64 118 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211441130 211441130 + Silent SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:211441130T>C uc002vee.3 + 3 429 c.297T>C c.(295-297)CCT>CCC p.P99P CPS1_uc010fur.2_Silent_p.P105P NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 99 Anthranilate phosphoribosyltransferase homolog. 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) TGGCCAACCCTATTATTGGGA 0.428 NA 3 117 0 0 0 0 PREX1 57580 broad.mit.edu 37 20 47244457 47244457 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr20:47244457C>T uc002xtw.1 - 38 4834 c.4811G>A c.(4810-4812)CGG>CAG p.R1604Q PREX1_uc002xtv.1_Missense_Mutation_p.R901Q NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1604 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCCGTGGCTCCGTGCCAAGAT 0.692 NA 11 30 0 0 0 0 NKTR 4820 broad.mit.edu 37 3 42676726 42676726 + Missense_Mutation SNP C C G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:42676726C>G uc003clo.2 + 12 1178 c.1031C>G c.(1030-1032)CCT>CGT p.P344R NKTR_uc003clm.1_Missense_Mutation_p.P91R|NKTR_uc003clp.2_Missense_Mutation_p.P91R|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.P234R|NKTR_uc003clr.1_Missense_Mutation_p.P91R|NKTR_uc003cls.2_Missense_Mutation_p.P44R NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 344 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) TATCACACACCTCCAAGATCA 0.398 NA 31 9 0 0 0 0 NKTR 4820 broad.mit.edu 37 3 42680280 42680280 + Missense_Mutation SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:42680280G>T uc003clo.2 + 13 3231 c.3084G>T c.(3082-3084)GAG>GAT p.E1028D NKTR_uc003clm.1_Missense_Mutation_p.E775D|NKTR_uc003clp.2_Missense_Mutation_p.E775D|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E918D|NKTR_uc003clr.1_Missense_Mutation_p.E775D|NKTR_uc003cls.2_Missense_Mutation_p.E728D NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1028 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGGAGGAGGAGGAGATTGATG 0.358 NA 48 22 2.75e-27 3.24e-27 1 0 BOC 91653 broad.mit.edu 37 3 112993314 112993314 + Missense_Mutation SNP A A G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:112993314A>G uc003dzx.2 + 9 1948 c.1327A>G c.(1327-1329)AGG>GGG p.R443G BOC_uc003dzy.2_Missense_Mutation_p.R443G|BOC_uc003dzz.2_Missense_Mutation_p.R443G|BOC_uc003eab.2_Missense_Mutation_p.R144G NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 443 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GCAGATGCTGAGGGGGCAACC 0.652 NA 36 36 0 0 0 0 PLK4 10733 broad.mit.edu 37 4 128812740 128812740 + Missense_Mutation SNP A A G rs11552117 TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr4:128812740A>G uc003ifo.2 + 9 2187 c.1942A>G c.(1942-1944)ATT>GTT p.I648V PLK4_uc011cgs.1_Missense_Mutation_p.I616V|PLK4_uc011cgt.1_Missense_Mutation_p.I607V NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 648 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GCAGATCACTATTTATTATCC 0.338 NA 53 97 0 0 0 0 AFF4 27125 broad.mit.edu 37 5 132269985 132269985 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr5:132269985G>A uc003kyd.2 - 3 1180 c.772C>T c.(772-774)CGG>TGG p.R258W AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.R258W|AFF4_uc003kyf.3_Missense_Mutation_p.R258W NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 258 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCATGGGCCGCACATAGGCA 0.517 NA 4 95 0 0 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559714 140559714 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr5:140559714C>T uc011dai.1 + 1 2285 c.2099C>T c.(2098-2100)TCG>TTG p.S700L PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 700 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGTGTCTTCGCTCTTCCTC 0.672 NA 134 38 0 0 0 0 NT5E 4907 broad.mit.edu 37 6 86197162 86197162 + Silent SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr6:86197162C>T uc003pko.3 + 5 1615 c.1059C>T c.(1057-1059)TGC>TGT p.C353C NT5E_uc010kbr.2_Silent_p.C353C NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 353 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CTCAATCATGCCGCTTTAGAG 0.348 NA 5 185 0 0 0 0 SP8 221833 broad.mit.edu 37 7 20825289 20825289 + Silent SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr7:20825289G>A uc003suy.2 - 3 334 c.93C>T c.(91-93)CAC>CAT p.H31H SP8_uc003suz.2_Silent_p.H49H NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 31 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 GTTTCCAGGGGTGGAAGCCTT 0.617 NA 21 42 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87051469 87051469 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr7:87051469C>T uc003uiv.1 - 18 2360 c.2284G>A c.(2284-2286)GGA>AGA p.G762R ABCB4_uc003uiw.1_Missense_Mutation_p.G762R|ABCB4_uc003uix.1_Missense_Mutation_p.G762R NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 762 Helical; (By similarity).|ABC transmembrane type-1 2. G -> E (in ICP). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GAAATAATTCCCAGAAATAAG 0.318 NA 3 15 0 0 0 0 ZNF282 8427 broad.mit.edu 37 7 148909533 148909533 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr7:148909533G>A uc003wfm.2 + 6 1141 c.1036G>A c.(1036-1038)GAC>AAC p.D346N ZNF282_uc011kun.1_Missense_Mutation_p.D346N|ZNF282_uc003wfn.2_Missense_Mutation_p.D286N|ZNF282_uc003wfo.2_Intron NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 346 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) GGATTTGGCAGACAGAGATAT 0.353 NA 3 31 0 0 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802031 95802031 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr8:95802031G>A uc003ygx.2 + 19 2189 c.2065G>A c.(2065-2067)GAG>AAG p.E689K NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 689 integral to membrane ovary(2) 2 Breast(36;3.85e-06) ATTTTGTCATGAGGTCAAAAT 0.303 NA 98 188 0 0 0 0 SECISBP2 79048 broad.mit.edu 37 9 91972404 91972404 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:91972404G>A uc004aqj.1 + 15 2272 c.2192G>A c.(2191-2193)CGC>CAC p.R731H SECISBP2_uc011ltk.1_Missense_Mutation_p.R730H|SECISBP2_uc004aqk.1_Missense_Mutation_p.R658H|SECISBP2_uc010mqo.1_Missense_Mutation_p.R436H|SECISBP2_uc011ltl.1_Missense_Mutation_p.R663H NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 731 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 GCTCTCAACCGCAAAGCTCTG 0.507 NA 6 205 0 0 0 0 ROR2 4920 broad.mit.edu 37 9 94519560 94519560 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:94519560G>A uc004arj.1 - 3 656 c.457C>T c.(457-459)CGG>TGG p.R153W ROR2_uc004ari.1_Missense_Mutation_p.R13W|ROR2_uc004ark.2_Missense_Mutation_p.R153W NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 153 Extracellular (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 TCACCCAGCCGCACAAACAGG 0.537 NA 4 123 0 0 0 0 SUSD1 64420 broad.mit.edu 37 9 114886703 114886703 + Silent SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:114886703G>A uc004bfu.2 - 6 761 c.720C>T c.(718-720)GGC>GGT p.G240G SUSD1_uc010mui.2_Silent_p.G240G|SUSD1_uc010muj.2_Silent_p.G240G NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 240 Sushi 2.|Extracellular (Potential). integral to membrane calcium ion binding 0 CTGGAGGGTTGCCACAGTTGA 0.483 NA 76 39 0 0 0 0 OR1N1 138883 broad.mit.edu 37 9 125288894 125288894 + Nonsense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:125288894G>A uc004bmn.1 - 1 679 c.679C>T c.(679-681)CGA>TGA p.R227* NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 CCACGGGTTCGGACCCTCAGG 0.542 NA 44 31 0 0 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273678 139273678 + Silent SNP C C A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:139273678C>A uc004chh.2 - 21 2610 c.2601G>T c.(2599-2601)GCG>GCT p.A867A NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 867 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCCGGCTGGACGCCAGTCTTC 0.642 NA 6 30 8.13e-05 8.96e-05 1 0 FAM123B 139285 broad.mit.edu 37 X 63412939 63412939 + Silent SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chrX:63412939T>C uc004dvo.2 - 2 501 c.228A>G c.(226-228)GGA>GGG p.G76G NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 76 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CTTTGCTCCGTCCCCCTCCAA 0.537 NA 3 74 0 0 0 0 RLTPR 146206 broad.mit.edu 37 16 67680147 67680148 + In_Frame_Ins INS - - CCTGGA TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:67680147_67680148insCCTGGA uc002etn.2 + 5 428_429 c.308_309insCCTGGA c.(307-309)GCC>GCCCTGGAC p.103_104insLD RLTPR_uc010cel.1_In_Frame_Ins_p.103_104insLD|RLTPR_uc010vjr.1_In_Frame_Ins_p.103_104insLD NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 103_104 LRR 2. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGTGTGGCCGCCCTGGAACAGC 0.639 NA 15 61 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577594 7577595 + Frame_Shift_Del DEL AC AC - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr17:7577594_7577595delAC uc002gim.2 - 7 880_881 c.686_687delGT c.(685-687)TGTfs p.C229fs TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 229 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> S (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.C229fs*10(10)|p.0?(7)|p.C229*(3)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229fs*18(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229G(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(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) GGATGGTGGTACAGTCAGAGCC 0.525 111 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) 33 71 --- --- --- --- NA NA NA NA SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:170665008delA uc002ufk.2 + 7 678 c.571delA c.(571-573)AAAfs p.K191fs SSB_uc002ufl.2_Frame_Shift_Del_p.K191fs|SSB_uc002ufm.2_Frame_Shift_Del_p.K191fs NM_003142 NP_003133 P05455 LA_HUMAN autoantigen La 191 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding skin(3)|pancreas(1) 4 TTACTTTGCCAAAAAAAATGA 0.323 NA 7 118 --- --- --- --- NA NA NA NA C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr22:23959767_23959769delCAT uc002zxf.2 - 7 789_791 c.512_514delATG c.(511-516)GATGCC>GCC p.D171del NM_016449 NP_057533 Q6PGQ1 CV043_HUMAN hypothetical protein LOC51233 171 Asp-rich. skin(1) 1 CTTACCTGGGcatcatcatcatc 0.261 NA 10 341 --- --- --- --- NA NA NA NA DNAJB11 51726 broad.mit.edu 37 3 186295532 186295534 + In_Frame_Del DEL TAT TAT - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:186295532_186295534delTAT uc003fqi.2 + 4 619_621 c.399_401delTAT c.(397-402)GATATT>GAT p.I135del NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 135 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GAGGAAGTGATATTATTGTAGAT 0.369 NA 20 64 --- --- --- --- NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr8:110455173_110455174insG uc003yne.2 + 36 4498 c.4394_splice c.e36-1 p.G1465_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 NA HNSCC(38;0.096) 9 193 --- --- --- --- NA NA NA NA