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 MUTYH 4595 broad.mit.edu 37 1 45797465 45797465 + Missense_Mutation SNP T A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:45797465T>A uc001cnm.2 - 12 1261 c.1045A>T c.(1045-1047)ACC>TCC p.T349S MUTYH_uc009vxn.2_Missense_Mutation_p.T174S|MUTYH_uc001cnf.2_Missense_Mutation_p.T324S|MUTYH_uc009vxo.2_Missense_Mutation_p.T324S|MUTYH_uc001cng.2_Missense_Mutation_p.T335S|MUTYH_uc001cnj.2_Missense_Mutation_p.T232S|MUTYH_uc001cni.2_Missense_Mutation_p.T324S|MUTYH_uc001cnh.2_Missense_Mutation_p.T325S|MUTYH_uc001cno.2_Missense_Mutation_p.T232S|MUTYH_uc001cnk.2_Missense_Mutation_p.T209S|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.T338S|MUTYH_uc009vxp.2_Missense_Mutation_p.T352S|MUTYH_uc001cnn.2_Missense_Mutation_p.T339S NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 349 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) ACTCCCAGGGTCTGGTCCCAG 0.652 Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis NBPF10 100132406 broad.mit.edu 37 1 145328401 145328406 + In_Frame_Del DEL GAAGAC - - TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:145328401_145328406delGAAGAC uc001end.3 + 35 4509_4514 c.4474_4479delGAAGAC c.(4474-4479)GAAGACdel p.ED1494del NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 1419_1420 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGAAGAGGAAGAAGACGAAGACCAAG 0.466 CTSK 1513 broad.mit.edu 37 1 150771721 150771721 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:150771721G>A uc001evp.1 - 7 937 c.813C>T c.(811-813)AGC>AGT p.S271S CTSK_uc001evq.1_Silent_p.S182S NM_000396 NP_000387 P43235 CATK_HUMAN cathepsin K preproprotein 271 proteolysis lysosome cysteine-type endopeptidase activity|protein binding skin(1) 1 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCAGATTATCGCTATTGCAGC 0.433 FCRL1 115350 broad.mit.edu 37 1 157772382 157772382 + Missense_Mutation SNP A C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:157772382A>C uc001frg.2 - 4 505 c.392T>G c.(391-393)GTC>GGC p.V131G FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.V131G|FCRL1_uc001fri.2_Missense_Mutation_p.V131G|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 131 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCAGATGAGGACCAGCCTGTC 0.542 HMCN1 83872 broad.mit.edu 37 1 186097315 186097315 + Missense_Mutation SNP C A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:186097315C>A uc001grq.1 + 83 13025 c.12796C>A c.(12796-12798)CCT>ACT p.P4266T HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4266 Ig-like C2-type 42. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TACTGAACTTCCTGGAGACGT 0.418 CACNA1S 779 broad.mit.edu 37 1 201021762 201021762 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:201021762G>A uc001gvv.2 - 32 4103 c.3876C>T c.(3874-3876)ATC>ATT p.I1292I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1292 Extracellular (Potential).|IV. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCACCAAGGCGATCTTCCCAA 0.557 C1orf69 200205 broad.mit.edu 37 1 228362831 228362831 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr1:228362831G>A uc001hsl.3 + 3 777 c.688G>A c.(688-690)GAG>AAG p.E230K C1orf69_uc010pvw.1_Missense_Mutation_p.E37K NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 230 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) AGGCGTTCCTGAGGGGGTCCG 0.627 PCDH15 65217 broad.mit.edu 37 10 55591167 55591167 + Silent SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr10:55591167T>C uc001jju.1 - 30 4505 c.4110A>G c.(4108-4110)CTA>CTG p.L1370L PCDH15_uc010qhq.1_Silent_p.L1375L|PCDH15_uc010qhr.1_Silent_p.L1370L|PCDH15_uc010qhs.1_Silent_p.L1382L|PCDH15_uc010qht.1_Silent_p.L1377L|PCDH15_uc010qhu.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhy.1_Silent_p.L1375L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc010qib.1_Silent_p.L1348L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1370 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTGTGTATCCTAGACTTTCTC 0.483 HNSCC(58;0.16) PLA2G16 11145 broad.mit.edu 37 11 63381479 63381479 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr11:63381479G>A uc001nxh.2 - 1 431 c.8C>T c.(7-9)GCG>GTG p.A3V PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V NM_007069 NP_009000 P53816 PAG16_HUMAN HRAS-like suppressor 3 3 lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding ovary(1) 1 TACAATGGGCGCACGCATCTT 0.478 DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA - - TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr11:108788635_108788637delTGA uc001pkm.2 + 17 2405_2407 c.2340_2342delTGA c.(2338-2343)AGTGAT>AGT p.D788del DDX10_uc001pkl.1_In_Frame_Del_p.D788del NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 788 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.310 T NUP98 AML* ANO6 196527 broad.mit.edu 37 12 45823037 45823037 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr12:45823037G>A uc001roo.2 + 20 3011 c.2676G>A c.(2674-2676)GTG>GTA p.V892V ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Silent_p.V913V|ANO6_uc010slg.1_Silent_p.V874V NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 892 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ATATGGGGGTGATAGCTGAGC 0.373 STAT6 6778 broad.mit.edu 37 12 57490672 57490672 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr12:57490672C>T uc009zpe.2 - 21 2566 c.2315G>A c.(2314-2316)TGC>TAC p.C772Y STAT6_uc009zpf.2_Missense_Mutation_p.C772Y|STAT6_uc001sna.2_Missense_Mutation_p.C772Y|STAT6_uc010srb.1_Missense_Mutation_p.C662Y|STAT6_uc010src.1_Missense_Mutation_p.C662Y|STAT6_uc010srd.1_Missense_Mutation_p.C662Y|STAT6_uc009zpg.2_Missense_Mutation_p.C821Y NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 772 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 CTGGCTCAGGCAGCTGTCTTC 0.642 OSBPL8 114882 broad.mit.edu 37 12 76791554 76791554 + Missense_Mutation SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr12:76791554T>C uc001sye.1 - 8 1072 c.592A>G c.(592-594)ATC>GTC p.I198V OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 198 PH. lipid transport lipid binding ovary(1) 1 CGTTCAATGATTTCACAGGCA 0.408 EP400 57634 broad.mit.edu 37 12 132551418 132551418 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr12:132551418G>A uc001ujn.2 + 48 8688 c.8653G>A c.(8653-8655)GTC>ATC p.V2885I EP400_uc001ujl.2_Missense_Mutation_p.V2884I|EP400_uc001ujm.2_Missense_Mutation_p.V2804I|EP400_uc001ujp.2_Missense_Mutation_p.V95I NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2921 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.P2885P(1) central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGTGGTGTCCGTCCCGGCAGC 0.682 LMO7 4008 broad.mit.edu 37 13 76287343 76287343 + Missense_Mutation SNP C A A rs75385907 TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr13:76287343C>A uc010thv.1 + 3 1511 c.251C>A c.(250-252)ACA>AAA p.T84K LMO7_uc001vjt.1_Missense_Mutation_p.T32K NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 1 84 CH. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AATTTTGAAACAAAAGATTTT 0.318 OR11G2 390439 broad.mit.edu 37 14 20666093 20666093 + Missense_Mutation SNP A G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr14:20666093A>G uc010tlb.1 + 1 599 c.599A>G c.(598-600)AAC>AGC p.N200S NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 200 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCTATCGTCAACATCTCCCAA 0.448 AKAP5 9495 broad.mit.edu 37 14 64936331 64936331 + Missense_Mutation SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr14:64936331T>C uc001xhd.3 + 2 1597 c.1219T>C c.(1219-1221)TCA>CCA p.S407P ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 407 S -> Y (in Ref. 3). energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) TATTCAGTTGTCAATAGAACA 0.348 HEATR4 399671 broad.mit.edu 37 14 73989140 73989140 + Missense_Mutation SNP C A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr14:73989140C>A uc010tub.1 - 3 1039 c.717G>T c.(715-717)CAG>CAT p.Q239H HEATR4_uc010tua.1_Missense_Mutation_p.Q192H NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) AGTCGTACTGCTGGCGCAGGA 0.582 LTBP2 4053 broad.mit.edu 37 14 74974771 74974771 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr14:74974771G>A uc001xqa.2 - 25 4067 c.3680C>T c.(3679-3681)CCG>CTG p.P1227L NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1227 EGF-like 13; calcium-binding (Potential).|Cys-rich. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCCCACACACGGGTCTGTGGT 0.582 RYR3 6263 broad.mit.edu 37 15 33999198 33999198 + Missense_Mutation SNP A G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr15:33999198A>G uc001zhi.2 + 43 6632 c.6562A>G c.(6562-6564)AAC>GAC p.N2188D RYR3_uc010bar.2_Missense_Mutation_p.N2188D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2188 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGTCGGCTGGAACCCCATTGA 0.517 ATP8B4 79895 broad.mit.edu 37 15 50190419 50190419 + Missense_Mutation SNP A T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr15:50190419A>T uc001zxu.2 - 22 2461 c.2319T>A c.(2317-2319)AAT>AAA p.N773K ATP8B4_uc010ber.2_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.1_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 773 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTAGGAGATCATTCTTGACAT 0.398 C15orf60 283677 broad.mit.edu 37 15 73832877 73832877 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr15:73832877G>A uc002avq.2 + 3 329 c.301G>A c.(301-303)GTG>ATG p.V101M C15orf60_uc010bjb.2_Intron NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 101 pancreas(1) 1 TGTAAGACGCGTGGATTGTCT 0.383 KIAA1199 57214 broad.mit.edu 37 15 81213426 81213426 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr15:81213426C>T uc002bfw.1 + 15 2317 c.2057C>T c.(2056-2058)GCC>GTC p.A686V KIAA1199_uc010unn.1_Missense_Mutation_p.A686V NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 686 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 ATCAACTGTGCCGCTGCAGGA 0.547 RHBDL1 9028 broad.mit.edu 37 16 727863 727863 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr16:727863G>A uc002cis.1 + 7 1155 c.1128G>A c.(1126-1128)GCG>GCA p.A376A RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 376 Helical; (Potential). proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) GCTTCATGGCGCACCTGGCAG 0.736 KIAA0430 9665 broad.mit.edu 37 16 15690712 15690712 + Silent SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr16:15690712C>T uc002ddr.2 - 27 5260 c.5067G>A c.(5065-5067)TCG>TCA p.S1689S KIAA0430_uc002ddq.2_Silent_p.S1523S|KIAA0430_uc010uzv.1_Silent_p.S1685S|KIAA0430_uc010uzw.1_Silent_p.S1688S NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1688 Poly-Ser. peroxisome nucleotide binding|RNA binding 0 AGATGCAGGACGAGCTGGAGT 0.507 ITGAX 3687 broad.mit.edu 37 16 31388543 31388543 + Missense_Mutation SNP C A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr16:31388543C>A uc002ebu.1 + 23 2813 c.2746C>A c.(2746-2748)CTG>ATG p.L916M ITGAX_uc002ebt.2_Missense_Mutation_p.L916M NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 916 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CACCTTCCAGCTGGAGCTCCC 0.537 TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr17:7577580T>C uc002gim.2 - 7 895 c.701A>G c.(700-702)TAC>TGC p.Y234C TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 234 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(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) CATGTAGTTGTAGTGGATGGT 0.572 111 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) NF1 4763 broad.mit.edu 37 17 29667528 29667528 + Frame_Shift_Del DEL G - - TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr17:29667528delG uc002hgg.2 + 47 7260 c.6927delG c.(6925-6927)TCGfs p.S2309fs NF1_uc002hgh.2_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.2_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2309 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCCAGGACTCGCCTCTGCACA 0.443 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRT31 3881 broad.mit.edu 37 17 39551111 39551111 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr17:39551111G>A uc002hwn.2 - 6 1139 c.1086C>T c.(1084-1086)AGC>AGT p.S362S KRT31_uc010cxn.2_Silent_p.S362S NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 362 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) TGCAGTCCTCGCTCTCCAGCA 0.532 MMD 23531 broad.mit.edu 37 17 53471726 53471726 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr17:53471726C>T uc002iui.2 - 7 971 c.686G>A c.(685-687)CGA>CAA p.R229Q NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 229 Lumenal (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 CGTAGGACTTCGGTAAAGGTA 0.463 KCNH6 81033 broad.mit.edu 37 17 61611547 61611547 + Missense_Mutation SNP A G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr17:61611547A>G uc002jay.2 + 5 1056 c.976A>G c.(976-978)ACC>GCC p.T326A KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.1_Missense_Mutation_p.T203A|KCNH6_uc010wpm.1_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 326 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CTATGTCAACACCAATGATGA 0.567 DNMT1 1786 broad.mit.edu 37 19 10288042 10288042 + Silent SNP A G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr19:10288042A>G uc002mng.2 - 5 627 c.447T>C c.(445-447)CCT>CCC p.P149P DNMT1_uc010xlc.1_Silent_p.A165A|DNMT1_uc002mnh.2_Silent_p.A44A|DNMT1_uc010xld.1_Silent_p.P149P|DNMT1_uc010dxb.1_RNA NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 149 Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GTGAAGGTTCAGCTGTTTAAA 0.398 PLEKHG2 64857 broad.mit.edu 37 19 39915859 39915859 + Silent SNP T G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr19:39915859T>G uc010xuz.1 + 19 4411 c.4086T>G c.(4084-4086)GCT>GCG p.A1362A PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A1140A NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1362 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACCACCCTGCTCTCTTGGCCT 0.652 NLRP13 126204 broad.mit.edu 37 19 56423467 56423467 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr19:56423467G>A uc010ygg.1 - 5 1741 c.1716C>T c.(1714-1716)CAC>CAT p.H572H NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 572 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGCAAGACGTGTTGCAGTA 0.423 TMEM18 129787 broad.mit.edu 37 2 669581 669581 + Silent SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:669581C>T uc002qwl.2 - 5 516 c.422G>A c.(421-423)TGA>TAA p.*141* TMEM18_uc002qwk.2_RNA NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 141 cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) TGCTGCCCCTCAGTCttcttt 0.448 GREB1 9687 broad.mit.edu 37 2 11750922 11750922 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:11750922G>A uc002rbk.1 + 18 3075 c.2775G>A c.(2773-2775)TCG>TCA p.S925S GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 925 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACTACACGTCGGTGGAGACGC 0.657 APOB 338 broad.mit.edu 37 2 21225763 21225763 + Silent SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:21225763T>C uc002red.2 - 29 12659 c.12531A>G c.(12529-12531)CGA>CGG p.R4177R NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4177 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTGAGTAACTCGTACCAAGC 0.463 FAM128A 653784 broad.mit.edu 37 2 132241729 132241729 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:132241729C>T uc002tsw.3 - 3 497 c.382G>A c.(382-384)GAG>AAG p.E128K FAM128A_uc002tsv.3_RNA NM_001085365 NP_001078834 Q6P582 MZT2A_HUMAN hypothetical protein LOC653784 128 centrosome|gamma-tubulin ring complex|spindle 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CTGGATCCCTCGTGGTTGCTG 0.642 FMNL2 114793 broad.mit.edu 37 2 153399316 153399316 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:153399316C>T uc002tye.2 + 3 632 c.265C>T c.(265-267)CCA>TCA p.P89S NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 89 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 CTATCTGGATCCAGCTGTAAC 0.433 ACVR1C 130399 broad.mit.edu 37 2 158485147 158485147 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:158485147C>T uc002tzk.3 - 1 253 c.10G>A c.(10-12)GCG>ACG p.A4T ACVR1C_uc002tzl.3_Missense_Mutation_p.A4T|ACVR1C_uc010fof.2_Missense_Mutation_p.A4T NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 4 apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 GAGCAGAGCGCCCGGGTCATC 0.751 CPS1 1373 broad.mit.edu 37 2 211476895 211476895 + Missense_Mutation SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:211476895T>C uc002vee.3 + 20 2578 c.2446T>C c.(2446-2448)TGC>CGC p.C816R CPS1_uc010fur.2_Missense_Mutation_p.C822R|CPS1_uc010fus.2_Missense_Mutation_p.C365R NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 816 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) TTTACGGATGTGCCACCCATC 0.413 CYP27A1 1593 broad.mit.edu 37 2 219677652 219677652 + Missense_Mutation SNP A C C rs72551319 TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:219677652A>C uc002viz.3 + 5 1284 c.850A>C c.(850-852)AAG>CAG p.K284Q NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 284 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CACAGGGAAGAAGCTGATTGA 0.517 C2orf54 79919 broad.mit.edu 37 2 241831024 241831024 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr2:241831024G>A uc002wae.3 - 2 830 c.671C>T c.(670-672)CCT>CTT p.P224L C2orf54_uc002wac.2_Missense_Mutation_p.P56L|C2orf54_uc002wad.2_Missense_Mutation_p.P75L NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN hypothetical protein LOC79919 isoform 1 224 0 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) GCTGCCCTCAGGGAATCCGGG 0.647 COL18A1 80781 broad.mit.edu 37 21 46875768 46875768 + Silent SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr21:46875768C>T uc011afs.1 + 1 345 c.324C>T c.(322-324)GCC>GCT p.A108A COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.A108A NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 108 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) AGAACATTGCCGGTGTCGGAG 0.642 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 CX3CR1 1524 broad.mit.edu 37 3 39307958 39307958 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:39307958C>T uc003cjl.2 - 2 135 c.43G>A c.(43-45)GAT>AAT p.D15N NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 15 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GCCAAATCATCGTACTCAAAG 0.448 BAP1 8314 broad.mit.edu 37 3 52442518 52442518 + Missense_Mutation SNP A G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:52442518A>G uc003ddx.2 - 4 342 c.227T>C c.(226-228)ATT>ACT p.I76T PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 76 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GTTATTCACAATATCATCATC 0.478 N|Mis|F|S|O uveal melanoma|breast|NSCLC PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G - - TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:53220653delG uc003dgl.2 + 14 1647 c.1294delG c.(1294-1296)GGGfs p.G432fs PRKCD_uc003dgm.2_Frame_Shift_Del_p.G432fs NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 432 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 ATXN7 6314 broad.mit.edu 37 3 63898472 63898472 + Silent SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:63898472C>T uc003dlw.3 + 3 751 c.198C>T c.(196-198)GGC>GGT p.G66G ATXN7_uc003dlv.2_Silent_p.G66G|ATXN7_uc010hnv.2_Silent_p.G66G|ATXN7_uc010hnu.1_RNA NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 66 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) gcgggcccggcgccgccTCCA 0.308 SR140 23350 broad.mit.edu 37 3 142731118 142731118 + Missense_Mutation SNP A G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:142731118A>G uc003evh.1 + 3 244 c.145A>G c.(145-147)AGC>GGC p.S49G SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.S49G|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.S49G NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 49 RNA processing nucleus nucleotide binding|RNA binding 0 ACGACCTAAGAGCCCAAGAAA 0.388 ZBBX 79740 broad.mit.edu 37 3 167034878 167034878 + Missense_Mutation SNP A T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:167034878A>T uc003fep.2 - 14 1432 c.1109T>A c.(1108-1110)GTA>GAA p.V370E ZBBX_uc011bpc.1_Missense_Mutation_p.V370E|ZBBX_uc003feq.2_Missense_Mutation_p.V341E NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 370 intracellular zinc ion binding ovary(2) 2 TGTGTGTTGTACTTTGGTCTC 0.328 TMEM44 93109 broad.mit.edu 37 3 194325157 194325157 + Frame_Shift_Del DEL G - - TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr3:194325157delG uc010hzn.2 - 10 1345 c.1176delC c.(1174-1176)ACCfs p.T392fs TMEM44_uc010hzm.2_Frame_Shift_Del_p.P76fs|TMEM44_uc003fuc.2_Frame_Shift_Del_p.T77fs|TMEM44_uc003fue.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fud.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuf.2_Frame_Shift_Del_p.P344fs|TMEM44_uc011bsv.1_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_RNA NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 392 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CTGGCAGCCTGGTGGCACTGC 0.597 KIAA0232 9778 broad.mit.edu 37 4 6865692 6865692 + Nonsense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr4:6865692C>T uc003gjr.3 + 7 4046 c.3583C>T c.(3583-3585)CAG>TAG p.Q1195* KIAA0232_uc003gjq.3_Nonsense_Mutation_p.Q1195* NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 1195 ATP binding ovary(2) 2 ACTGGATTCCCAGGAGGAATC 0.408 NAAA 27163 broad.mit.edu 37 4 76842123 76842123 + Missense_Mutation SNP G C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr4:76842123G>C uc003hjb.2 - 6 884 c.820C>G c.(820-822)CTA>GTA p.L274V NAAA_uc003hja.2_Missense_Mutation_p.L274V|NAAA_uc003hjc.3_Missense_Mutation_p.L274V|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.L173V NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 274 lipid metabolic process lysosome hydrolase activity skin(1) 1 AAAGGATCTAGAGGCCAAATG 0.433 PET112L 5188 broad.mit.edu 37 4 152592379 152592379 + Nonsense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr4:152592379G>A uc003iml.2 - 13 1633 c.1621C>T c.(1621-1623)CGA>TGA p.R541* PET112L_uc003imk.2_RNA NM_004564 NP_004555 O75879 GATB_HUMAN PET112-like precursor 541 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGATCTGCTCGGCTTTGAGTC 0.453 ETFDH 2110 broad.mit.edu 37 4 159603468 159603468 + Silent SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr4:159603468T>C uc003iqb.2 + 3 629 c.297T>C c.(295-297)CGT>CGC p.R99R ETFDH_uc011cjg.1_Silent_p.R52R|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Silent_p.R38R|ETFDH_uc010iqs.2_Silent_p.R38R NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 99 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) AGGACATCCGTGTGTGTCTAG 0.502 PCDHGB1 56104 broad.mit.edu 37 5 140729895 140729896 + Frame_Shift_Del DEL TC - - TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr5:140729895_140729896delTC uc003ljo.1 + 1 68_69 c.68_69delTC c.(67-69)TTCfs p.F23fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Frame_Shift_Del_p.F23fs NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 23 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTCTTTGTTCTGCGGGGCCA 0.550 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C6orf10 10665 broad.mit.edu 37 6 32260945 32260945 + Missense_Mutation SNP T A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr6:32260945T>A uc011dpy.1 - 12 1678 c.1505A>T c.(1504-1506)GAA>GTA p.E502V C6orf10_uc011dpx.1_Intron NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 502 Lys-rich. integral to membrane skin(1) 1 tctctccttttctttatcatt 0.174 HLA-DMB 3109 broad.mit.edu 37 6 32903319 32903319 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr6:32903319G>A uc003ocl.1 - 4 966 c.733C>T c.(733-735)CAC>TAC p.H245Y HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 245 Cytoplasmic (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 TCACTAGAGTGGCCAGCTCTC 0.537 GRM4 2914 broad.mit.edu 37 6 34004117 34004117 + Silent SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr6:34004117C>T uc003oir.3 - 8 1940 c.1770G>A c.(1768-1770)CTG>CTA p.L590L GRM4_uc011dsn.1_Silent_p.L543L|GRM4_uc010jvh.2_Silent_p.L590L|GRM4_uc010jvi.2_Silent_p.L282L|GRM4_uc003oio.2_Silent_p.L282L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L450L|GRM4_uc003oiq.2_Silent_p.L457L|GRM4_uc011dsm.1_Silent_p.L421L NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 590 Helical; Name=1; (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) GGAAGAGGGGCAGCACGGCCC 0.647 MCM3 4172 broad.mit.edu 37 6 52149470 52149470 + Missense_Mutation SNP C G G TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr6:52149470C>G uc003pan.1 - 1 113 c.3G>C c.(1-3)ATG>ATC p.M1I MCM3_uc011dwu.1_5'UTR NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 1 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) CGGTACCCGCCATGCCCGCTG 0.642 IKZF1 10320 broad.mit.edu 37 7 50450397 50450397 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr7:50450397C>T uc003tow.3 + 6 749 c.581C>T c.(580-582)ACG>ATG p.T194M IKZF1_uc003tox.3_Missense_Mutation_p.T194M|IKZF1_uc003toy.3_Missense_Mutation_p.T194M|IKZF1_uc011kck.1_Missense_Mutation_p.T107M|IKZF1_uc003toz.3_Missense_Mutation_p.T164M|IKZF1_uc010kyx.2_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 194 C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(74) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CACCTGAGGACGCACTCCGGT 0.657 D ALL TAF6 6878 broad.mit.edu 37 7 99711354 99711354 + Silent SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr7:99711354G>A uc003uti.2 - 4 363 c.282C>T c.(280-282)TTC>TTT p.F94F TAF6_uc003utg.2_Silent_p.F35F|TAF6_uc003uth.2_Silent_p.F151F|TAF6_uc003utk.2_Silent_p.F94F|TAF6_uc011kji.1_Silent_p.F131F|TAF6_uc003utj.2_Silent_p.F84F|TAF6_uc003utl.2_Silent_p.F94F|TAF6_uc003utm.2_Silent_p.F94F|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 94 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGGCGAAGCGGAAAGGAATGA 0.602 PIK3CG 5294 broad.mit.edu 37 7 106509904 106509904 + Missense_Mutation SNP G A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr7:106509904G>A uc003vdv.3 + 2 1983 c.1898G>A c.(1897-1899)TGC>TAC p.C633Y PIK3CG_uc003vdu.2_Missense_Mutation_p.C633Y|PIK3CG_uc003vdw.2_Missense_Mutation_p.C633Y NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 633 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CTCCTGGACTGCAACTTCTCA 0.333 ADAMDEC1 27299 broad.mit.edu 37 8 24251623 24251623 + Missense_Mutation SNP C A A TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr8:24251623C>A uc003xdz.2 + 4 546 c.326C>A c.(325-327)CCC>CAC p.P109H ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 109 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TTGTACTCACCCAGAGGAGAG 0.463 SNTB1 6641 broad.mit.edu 37 8 121644863 121644863 + Missense_Mutation SNP T C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr8:121644863T>C uc010mdg.2 - 3 1043 c.817A>G c.(817-819)AAG>GAG p.K273E SNTB1_uc003ype.2_Missense_Mutation_p.K273E NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 273 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) ACCGTGTGCTTAGCATCTGGA 0.527 SH2D3C 10044 broad.mit.edu 37 9 130507361 130507361 + Missense_Mutation SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr9:130507361C>T uc004bsc.2 - 7 1424 c.1282G>A c.(1282-1284)GCC>ACC p.A428T SH2D3C_uc010mxo.2_Missense_Mutation_p.A268T|SH2D3C_uc004bry.2_Missense_Mutation_p.A270T|SH2D3C_uc004brz.3_Missense_Mutation_p.A74T|SH2D3C_uc011mak.1_Missense_Mutation_p.A74T|SH2D3C_uc004bsa.2_Missense_Mutation_p.A271T|SH2D3C_uc004bsb.2_Missense_Mutation_p.A360T NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 428 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GCTGCAGGGGCGGCATGGACA 0.627 GFI1B 8328 broad.mit.edu 37 9 135863634 135863634 + Missense_Mutation SNP G A A rs145562579 TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chr9:135863634G>A uc004ccg.2 + 4 440 c.289G>A c.(289-291)GAC>AAC p.D97N GFI1B_uc010mzy.2_Missense_Mutation_p.D97N NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 97 Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) TCCACTGTCCGACTCACCCCC 0.587 SFRS17A 8227 broad.mit.edu 37 X 1719770 1719770 + Silent SNP C T T TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chrX:1719770C>T uc004cqa.2 + 5 1567 c.1371C>T c.(1369-1371)GGC>GGT p.G457G SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 457 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACGAGCTGGGCGTGGCACACG 0.701 CITED1 4435 broad.mit.edu 37 X 71522708 71522708 + Silent SNP C T T rs146201846 byFrequency TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chrX:71522708C>T uc011mqd.1 - 2 167 c.12G>A c.(10-12)ACG>ACA p.T4T CITED1_uc011mqc.1_Silent_p.T30T|CITED1_uc004eas.2_Silent_p.T4T|CITED1_uc004eat.2_Silent_p.T4T NM_001144887 NP_001138359 Q99966 CITE1_HUMAN melanocyte-specific gene 1 isoform 1 4 apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway cytosol|nucleus chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding 0 Renal(35;0.156) CAGGCCTCGACGTTGTTGGCA 0.428 CHRDL1 91851 broad.mit.edu 37 X 109922648 109922648 + Missense_Mutation SNP G C C TCGA-26-5133-01A-01D-1486-08 TCGA-26-5133-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 533051f3-5ea5-41a4-8727-11dc6d786607 c47b3f6f-5f47-4588-afe6-0249eaefe1b5 g.chrX:109922648G>C uc004eou.3 - 11 1511 c.1162C>G c.(1162-1164)CTC>GTC p.L388V CHRDL1_uc004eov.2_Missense_Mutation_p.L377V|CHRDL1_uc004eow.2_Missense_Mutation_p.L386V|CHRDL1_uc010nps.2_Missense_Mutation_p.L387V|CHRDL1_uc004eot.2_Missense_Mutation_p.L307V|CHRDL1_uc011mss.1_Missense_Mutation_p.L302V NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 380 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 AAGTGCTGGAGAATGCCTAGG 0.453