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 SPAG17 200162 broad.mit.edu 37 1 118550748 118550748 + Silent SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr1:118550748G>A uc001ehk.2 - 31 4574 c.4506C>T c.(4504-4506)ATC>ATT p.I1502I NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1502 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CACAGTTGGCGATAACAGTGG 0.502000 CFH 3075 broad.mit.edu 37 1 196696029 196696029 + Missense_Mutation SNP C C T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr1:196696029C>T uc001gtj.3 + 14 2435 c.2195C>T c.(2194-2196)ACG>ATG p.T732M NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 732 Sushi 12. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AGATCAATTACGTGTATTCAT 0.383000 DENND5A 23258 broad.mit.edu 37 11 9199806 9199806 + Missense_Mutation SNP A A T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr11:9199806A>T uc001mhl.2 - 8 2034 c.1779T>A c.(1777-1779)GAT>GAA p.D593E DENND5A_uc010rbw.1_Missense_Mutation_p.D593E|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 593 Poly-Asp. liver(1) 1 TATCATCATCATCATGACACA 0.458000 MDM2 4193 broad.mit.edu 37 12 69230464 69230464 + Missense_Mutation SNP A A C TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr12:69230464A>C uc001sui.2 + 10 1140 c.853A>C c.(853-855)ACT>CCT p.T285P MDM2_uc009zri.2_Missense_Mutation_p.T240P|MDM2_uc009zqx.2_Missense_Mutation_p.T230P|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Missense_Mutation_p.T104P|MDM2_uc009zqz.2_Missense_Mutation_p.T232P|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Missense_Mutation_p.T79P|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron NM_002392 NP_002383 Q00987 MDM2_HUMAN mouse double minute 2 homolog isoform MDM2 279 Necessary for interaction with USP2.|ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|central_nervous_system(1) 3 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATATCAAGTTACTGTGTATCA 0.323000 A sarcoma|glioma|colorectal|other CMKLR1 1240 broad.mit.edu 37 12 108686331 108686331 + Missense_Mutation SNP G G A rs148287464 by1000genomes TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr12:108686331G>A uc009zuw.2 - 3 600 c.409C>T c.(409-411)CGC>TGC p.R137C CMKLR1_uc001tmw.2_Missense_Mutation_p.R137C|CMKLR1_uc001tmv.2_Missense_Mutation_p.R135C|CMKLR1_uc009zuv.2_Missense_Mutation_p.R137C NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 137 Cytoplasmic (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 GAGATGCAGCGGTCAGAGCTG 0.557000 SLITRK5 26050 broad.mit.edu 37 13 88329455 88329455 + Silent SNP C C A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr13:88329455C>A uc001vln.2 + 2 2031 c.1812C>A c.(1810-1812)CGC>CGA p.R604R SLITRK5_uc010tic.1_Silent_p.R363R NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 604 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGACATGCGCTCCATTAAGT 0.567000 C14orf118 55668 broad.mit.edu 37 14 76620846 76620846 + Missense_Mutation SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr14:76620846G>A uc001xsh.2 + 2 226 c.140G>A c.(139-141)CGT>CAT p.R47H C14orf118_uc001xsi.2_Missense_Mutation_p.R47H|C14orf118_uc001xsj.1_Missense_Mutation_p.R47H|C14orf118_uc001xsk.1_Missense_Mutation_p.R47H|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 47 Arg-rich. ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) GGTCGGAAGCGTCGTTCTGAC 0.582000 SEPT12 124404 broad.mit.edu 37 16 4833960 4833960 + Missense_Mutation SNP C C T rs144420035 byFrequency TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr16:4833960C>T uc002cxq.2 - 5 625 c.484G>A c.(484-486)GTG>ATG p.V162M SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 162 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 ACAAAGTACACGCAGCAGTGC 0.632000 KCNH6 81033 broad.mit.edu 37 17 61601589 61601589 + Nonsense_Mutation SNP C C T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr17:61601589C>T uc002jay.2 + 2 246 c.166C>T c.(166-168)CGA>TGA p.R56* KCNH6_uc002jax.1_Nonsense_Mutation_p.R56*|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Nonsense_Mutation_p.R56*|KCNH6_uc002jaz.1_Nonsense_Mutation_p.R56* NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 56 PAS.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CGGCTACTCCCGAGTGGAGGT 0.617000 PITPNC1 26207 broad.mit.edu 37 17 65628319 65628319 + Missense_Mutation SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr17:65628319G>A uc002jgc.2 + 6 774 c.427G>A c.(427-429)GAT>AAT p.D143N PITPNC1_uc002jgb.2_Missense_Mutation_p.D143N NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 143 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) TATTGCCTGCGATGAAATTCC 0.358000 TUBB4 10382 broad.mit.edu 37 19 6495726 6495726 + Missense_Mutation SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr19:6495726G>A uc002mfg.1 - 4 891 c.784C>T c.(784-786)CGC>TGC p.R262C TUBB4_uc002mff.1_Missense_Mutation_p.R190C|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 262 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) AAGTGCAGGCGAGGAAAGGGA 0.677000 GALNT13 114805 broad.mit.edu 37 2 155099307 155099307 + Missense_Mutation SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr2:155099307G>A uc002tyr.3 + 6 1142 c.575G>A c.(574-576)CGT>CAT p.R192H GALNT13_uc002tyt.3_Missense_Mutation_p.R192H|GALNT13_uc010foc.1_Missense_Mutation_p.R11H NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 192 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ATACGTGCCCGTCTTCGAGGA 0.423000 CERKL 375298 broad.mit.edu 37 2 182409462 182409462 + Missense_Mutation SNP T T G TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr2:182409462T>G uc002unx.2 - 12 1509 c.1408A>C c.(1408-1410)AAA>CAA p.K470Q CERKL_uc002uny.2_Missense_Mutation_p.K444Q|CERKL_uc010zfm.1_Missense_Mutation_p.K426Q|CERKL_uc002unz.2_Missense_Mutation_p.K192Q|CERKL_uc002uoa.2_Missense_Mutation_p.K375Q|CERKL_uc002uob.2_Missense_Mutation_p.K192Q|CERKL_uc002uoc.2_Missense_Mutation_p.K331Q|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.K239Q|CERKL_uc002unw.2_Missense_Mutation_p.K40Q NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 470 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTCAGGTGTTTTATAAATTCT 0.289000 CLK1 1195 broad.mit.edu 37 2 201722526 201722526 + Silent SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr2:201722526G>A uc002uwe.2 - 7 928 c.747C>T c.(745-747)TAC>TAT p.Y249Y CLK1_uc002uwd.2_Silent_p.Y72Y|CLK1_uc010zhi.1_Silent_p.Y291Y|CLK1_uc002uwf.2_Silent_p.Y23Y|CLK1_uc002uwg.2_Silent_p.Y98Y|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 249 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 TAATGAAGTCGTAAGTACTAA 0.363000 HJURP 55355 broad.mit.edu 37 2 234749948 234749948 + Missense_Mutation SNP T T C TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr2:234749948T>C uc002vvg.2 - 8 1544 c.1478A>G c.(1477-1479)AAA>AGA p.K493R HJURP_uc010znd.1_Missense_Mutation_p.K432R|HJURP_uc010zne.1_Missense_Mutation_p.K401R NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 493 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACTTTTTGCTTTTGCTTTGCT 0.502000 ASTE1 28990 broad.mit.edu 37 3 130737361 130737361 + Missense_Mutation SNP A A C TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr3:130737361A>C uc003env.1 - 4 1944 c.1502T>G c.(1501-1503)ATC>AGC p.I501S ASTE1_uc010htm.1_Missense_Mutation_p.I501S|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 501 DNA repair nuclease activity 0 AGGGCTGTTGATTATGGCAAT 0.433000 GPR87 53836 broad.mit.edu 37 3 151012949 151012949 + Missense_Mutation SNP C C G TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr3:151012949C>G uc003eyt.2 - 3 446 c.85G>C c.(85-87)GGG>CGG p.G29R MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 29 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTCCTGGCCCGTCGCTCCTG 0.483000 HDAC3 8841 broad.mit.edu 37 5 141014457 141014457 + Missense_Mutation SNP C C T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr5:141014457C>T uc003llf.2 - 3 268 c.202G>A c.(202-204)GAC>AAC p.D68N HDAC3_uc003lle.1_Missense_Mutation_p.D11N|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank NM_003883 NP_003874 O15379 HDAC3_HUMAN histone deacetylase 3 68 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) TGCAGGAAGTCAATGTAGTCC 0.542000 DDX56 54606 broad.mit.edu 37 7 44611094 44611094 + Missense_Mutation SNP G G T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr7:44611094G>T uc003tlg.2 - 6 1530 c.887C>A c.(886-888)TCC>TAC p.S296Y DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.S232Y|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.S296Y|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 296 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 GGCAGACCTGGAGCGCAGTGG 0.438000 FBXL13 222235 broad.mit.edu 37 7 102572363 102572363 + Nonsense_Mutation SNP G G A rs149803390 TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr7:102572363G>A uc003vaq.2 - 9 1169 c.742C>T c.(742-744)CAA>TAA p.Q248* FBXL13_uc010liq.1_Nonsense_Mutation_p.Q63*|FBXL13_uc010lir.1_Nonsense_Mutation_p.Q248*|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Nonsense_Mutation_p.Q248*|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 248 LRR 1. 0 TTCAACTCTTGCAAGTTCCTA 0.353000 XKR6 286046 broad.mit.edu 37 8 10755990 10755990 + Silent SNP C C T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr8:10755990C>T uc003wtk.1 - 3 1425 c.1398G>A c.(1396-1398)CCG>CCA p.P466P NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 466 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CAGTGGTCTCCGGGTCTCTGT 0.473000 NCALD 83988 broad.mit.edu 37 8 102731642 102731642 + Silent SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr8:102731642G>A uc003yke.2 - 2 585 c.216C>T c.(214-216)TTC>TTT p.F72F NCALD_uc003ykf.2_Silent_p.F72F|NCALD_uc003ykg.2_Silent_p.F72F|NCALD_uc003ykh.2_Silent_p.F72F|NCALD_uc003yki.2_Silent_p.F72F|NCALD_uc003ykj.2_Silent_p.F72F|NCALD_uc003ykk.2_Silent_p.F72F|NCALD_uc003ykl.2_Silent_p.F72F NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 72 EF-hand 2. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CATTTGCATCGAAGGTGCGGA 0.443000 SEC16A 9919 broad.mit.edu 37 9 139370971 139370971 + Missense_Mutation SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr9:139370971G>A uc004chx.2 - 3 1406 c.1097C>T c.(1096-1098)TCA>TTA p.S366L SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.S366L|SEC16A_uc010nbn.2_Missense_Mutation_p.S366L|SEC16A_uc010nbo.1_Missense_Mutation_p.S366L NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 188 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) TGAAGCTCCTGAGTCTGCTTC 0.582000 SATL1 340562 broad.mit.edu 37 X 84363373 84363373 + Missense_Mutation SNP G G A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chrX:84363373G>A uc011mqx.1 - 1 602 c.602C>T c.(601-603)CCA>CTA p.P201L SATL1_uc004een.2_Missense_Mutation_p.P201L NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 14 Gln-rich. N-acetyltransferase activity breast(2) 2 GCTGATGCCTGGTTGTTGCAC 0.572000 ARID1A 8289 broad.mit.edu 37 1 27057722 27057723 + Frame_Shift_Ins INS - - A TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr1:27057721_27057722C>CA uc001bmv.1 + 2 1802_1803 c.1429_1430C>CA c.(1429-1431)cacfs p.H477fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.H477fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.H477fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.H94fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 477 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAAAGTCCTCACCCTCAGCAG 0.545 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-BR-8365-01A-21D-2340-08 TCGA-BR-8365-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 094f7fc0-9c0c-4dad-aad5-d1b4d91b976a 10f5d5aa-736e-4108-a459-c3274df8814e g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653