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 COL16A1 1307 broad.mit.edu 37 1 32163660 32163660 + Nonsense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:32163660C>T uc001btk.1 - 6 869 c.504G>A c.(502-504)TGG>TGA p.W168* COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Nonsense_Mutation_p.W168* NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 168 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TCAGCTTGTGCCAACGCAAGT 0.642 FGGY 55277 broad.mit.edu 37 1 59805657 59805657 + Nonsense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:59805657C>T uc001czi.3 + 3 441 c.229C>T c.(229-231)CAA>TAA p.Q77* FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Nonsense_Mutation_p.Q77*|FGGY_uc001czj.3_Nonsense_Mutation_p.Q77*|FGGY_uc001czk.3_5'UTR|FGGY_uc001czl.3_Intron NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 77 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TGATTTAAACCAAATTCGAGG 0.363 MSH4 4438 broad.mit.edu 37 1 76349367 76349367 + Missense_Mutation SNP A T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:76349367A>T uc001dhd.1 + 15 2009 c.1968A>T c.(1966-1968)AAA>AAT p.K656N NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 656 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TTCTTGAAAAAATATCTGCGG 0.313 MMR SYCP1 6847 broad.mit.edu 37 1 115487554 115487554 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:115487554G>A uc001efr.2 + 25 2314 c.2105G>A c.(2104-2106)CGA>CAA p.R702Q SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R702Q|SYCP1_uc009wgw.2_Missense_Mutation_p.R702Q NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 702 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGATAAGCGATGTCAACAT 0.254 PTGFRN 5738 broad.mit.edu 37 1 117484643 117484643 + Missense_Mutation SNP G T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:117484643G>T uc001egv.1 + 2 493 c.356G>T c.(355-357)TGT>TTT p.C119F NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 119 Extracellular (Potential).|Ig-like C2-type 1. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CACTACAAATGTTCAACCCCC 0.483 PRG4 10216 broad.mit.edu 37 1 186276526 186276526 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:186276526G>A uc001gru.3 + 7 1726 c.1675G>A c.(1675-1677)GAG>AAG p.E559K PRG4_uc001grt.3_Missense_Mutation_p.E518K|PRG4_uc009wyl.2_Missense_Mutation_p.E466K|PRG4_uc009wym.2_Missense_Mutation_p.E425K|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 559 28.|59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CACCACCAAGGAGCCTGCACC 0.637 CR2 1380 broad.mit.edu 37 1 207649599 207649599 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr1:207649599C>T uc001hfw.2 + 14 2654 c.2560C>T c.(2560-2562)CCG>TCG p.P854S CR2_uc001hfv.2_Missense_Mutation_p.P913S|CR2_uc009xch.2_Intron NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 854 Sushi 14.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GTGTCCACCTCCGCCTAAGAC 0.493 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 ANK3 288 broad.mit.edu 37 10 61836046 61836046 + Silent SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr10:61836046C>T uc001jky.2 - 37 4785 c.4593G>A c.(4591-4593)ACG>ACA p.T1531T ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1531 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AAGCTGATGGCGTATTAGAGG 0.443 TLL2 7093 broad.mit.edu 37 10 98157009 98157009 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr10:98157009G>A uc001kml.1 - 11 1544 c.1318C>T c.(1318-1320)CGG>TGG p.R440W TLL2_uc009xvf.1_Missense_Mutation_p.R418W NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 440 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ACCCAGAGCCGGCTGTCCGTG 0.587 LOC653544 653544 broad.mit.edu 37 10 135491123 135491123 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr10:135491123G>A uc010qvi.1 + 1 845 c.734G>A c.(733-735)GGC>GAC p.G245D NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCCACACCGGCGCGTGGGGA 0.786 RAG1 5896 broad.mit.edu 37 11 36596877 36596877 + Silent SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr11:36596877C>T uc001mwu.3 + 2 2147 c.2023C>T c.(2023-2025)CTG>TTG p.L675L RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 675 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GACTGCCATCCTGAGTCCTCT 0.498 Familial_Hemophagocytic_Lymphohistiocytosis FOLH1 2346 broad.mit.edu 37 11 49186293 49186293 + Silent SNP C T T rs141224157 by1000genomes TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr11:49186293C>T uc001ngy.2 - 13 1665 c.1404G>A c.(1402-1404)CCG>CCA p.P468P FOLH1_uc001ngz.2_Silent_p.P468P|FOLH1_uc009yly.2_Silent_p.P453P|FOLH1_uc009ylz.2_Silent_p.P453P|FOLH1_uc009yma.2_Silent_p.P160P NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 468 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGTACATCAGCGGTGTACAAT 0.284 VWF 7450 broad.mit.edu 37 12 6127888 6127888 + Nonsense_Mutation SNP G A A rs61750112 TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr12:6127888G>A uc001qnn.1 - 28 4946 c.4696C>T c.(4696-4698)CGA>TGA p.R1566* VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1566 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CGGATCTCTCGCACCCGCTGC 0.473 CD163L1 283316 broad.mit.edu 37 12 7528295 7528295 + Splice_Site SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr12:7528295C>T uc001qsy.2 - 10 2712 c.2686_splice c.e10+1 p.R896_splice CD163L1_uc010sge.1_Splice_Site_p.R906_splice NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AAAAATCTCACGGGAACAGAC 0.468 KRT8 3856 broad.mit.edu 37 12 53294405 53294405 + Silent SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr12:53294405G>A uc001sbd.2 - 4 760 c.657C>T c.(655-657)GAC>GAT p.D219D KRT8_uc009zmj.2_Silent_p.D219D|KRT8_uc009zmk.1_Silent_p.D247D|KRT8_uc009zml.1_Silent_p.D219D|KRT8_uc009zmm.1_Silent_p.D219D NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 219 Coil 1B.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTTGATCTCGTCGGTCAGCC 0.572 IRAK3 11213 broad.mit.edu 37 12 66597512 66597512 + Nonsense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr12:66597512G>A uc001sth.2 + 2 257 c.155G>A c.(154-156)TGG>TAG p.W52* IRAK3_uc010ssy.1_Intron NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 52 Death. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) TCAAGCAGCTGGCTGGATGTT 0.363 SBNO1 55206 broad.mit.edu 37 12 123794321 123794321 + Silent SNP C T T rs145298684 by1000genomes TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr12:123794321C>T uc010tap.1 - 25 3378 c.3378G>A c.(3376-3378)GCG>GCA p.A1126A SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.A1125A|SBNO1_uc010taq.1_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1126 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TAAGTGTGTCCGCAAAATACT 0.358 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 CLCN7 1186 broad.mit.edu 37 16 1498997 1498997 + Silent SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr16:1498997G>A uc002clv.2 - 19 1877 c.1767C>T c.(1765-1767)ACC>ACT p.T589T CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_Silent_p.T37T|CLCN7_uc002clw.2_Silent_p.T565T NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 589 Helical; (By similarity). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CGATCTTGGCGGTCATGAGCA 0.632 CLCN7 1186 broad.mit.edu 37 16 1510943 1510943 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr16:1510943G>A uc002clv.2 - 5 468 c.358C>T c.(358-360)CGG>TGG p.R120W CLCN7_uc002clw.2_Missense_Mutation_p.R96W NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 120 Cytoplasmic (By similarity). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) TCCACCGTCCGGAAGGCCTGC 0.682 ZNF19 7567 broad.mit.edu 37 16 71509676 71509676 + Silent SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr16:71509676G>A uc010cgc.1 - 6 1280 c.774C>T c.(772-774)TCC>TCT p.S258S ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 258 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) TAACAAACTCGGAACTACTCG 0.438 CHST6 4166 broad.mit.edu 37 16 75513068 75513068 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr16:75513068C>T uc002fef.2 - 3 839 c.659G>A c.(658-660)CGT>CAT p.R220H CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R220H NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 220 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCCGTTGTCACGCGCCAGAGC 0.721 SLC38A8 146167 broad.mit.edu 37 16 84066963 84066963 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr16:84066963G>A uc002fhg.1 - 3 500 c.500C>T c.(499-501)CCG>CTG p.P167L NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 167 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 GATCTCCCGCGGGGCAGACAG 0.652 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C T T rs11540652 TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) MSL1 339287 broad.mit.edu 37 17 38285515 38285515 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr17:38285515G>A uc002hub.2 + 3 426 c.407G>A c.(406-408)AGT>AAT p.S136N MSL1_uc002hua.3_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc002hud.2_5'Flank NM_001012241 NP_001012241 Q68DK7 MSL1_HUMAN hampin 337 histone H4-K16 acetylation MSL complex 0 CCATTTGGAAGTACAGAAAGA 0.333 IFI35 3430 broad.mit.edu 37 17 41166266 41166266 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr17:41166266G>A uc010whj.1 + 7 1013 c.817G>A c.(817-819)GTA>ATA p.V273I NM_005533 NP_005524 P80217 IN35_HUMAN interferon-induced protein 35 271 EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry). response to virus|type I interferon-mediated signaling pathway nucleus protein binding ovary(1) 1 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.157) CCTGACAGTCGTACCCCAAGG 0.632 ACE 1636 broad.mit.edu 37 17 61566027 61566027 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr17:61566027C>T uc002jau.1 + 16 2346 c.2324C>T c.(2323-2325)GCC>GTC p.A775V ACE_uc002jav.1_Missense_Mutation_p.A201V|ACE_uc010ddv.1_Missense_Mutation_p.A2V|ACE_uc010wpj.1_Missense_Mutation_p.A201V|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.A85V NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 775 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AATGTGATGGCCACGTCCCGG 0.542 DSG3 1830 broad.mit.edu 37 18 29054117 29054117 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr18:29054117C>T uc002kws.2 + 15 2244 c.2135C>T c.(2134-2136)GCG>GTG p.A712V DSG3_uc002kwt.2_5'UTR NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 712 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGAGGCACAGCGGTGGAAGGC 0.443 ATP5A1 498 broad.mit.edu 37 18 43667414 43667414 + Missense_Mutation SNP C A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr18:43667414C>A uc002lbr.1 - 7 934 c.844G>T c.(844-846)GCT>TCT p.A282S ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 282 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 AGTGGGGCAGCATCCGAGGCC 0.423 MUC16 94025 broad.mit.edu 37 19 9054252 9054252 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr19:9054252G>A uc002mkp.2 - 4 31574 c.31370C>T c.(31369-31371)TCG>TTG p.S10457L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10459 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTGGCAGGCGAAGTGGATGT 0.448 C19orf50 79036 broad.mit.edu 37 19 18675766 18675766 + Silent SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr19:18675766C>T uc002njo.2 + 3 331 c.189C>T c.(187-189)TTC>TTT p.F63F C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.F63F NM_024069 NP_076974 Q9BQD3 CS050_HUMAN hypothetical protein LOC79036 63 protein binding 0 GCGAACGCTTCCTGCACCACA 0.582 ZNF429 353088 broad.mit.edu 37 19 21712573 21712573 + Missense_Mutation SNP C A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr19:21712573C>A uc002nqd.1 + 2 254 c.117C>A c.(115-117)AAC>AAA p.N39K ZNF429_uc010ecu.1_Missense_Mutation_p.N39K NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACTACAGAAACTTGGTCTTCC 0.378 TMEM149 79713 broad.mit.edu 37 19 36230669 36230669 + Silent SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr19:36230669G>A uc002obc.2 - 4 764 c.663C>T c.(661-663)GGC>GGT p.G221G TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.G221G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.G301G NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 221 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTCCAGGGCGCCTGGGGAGG 0.642 CPT1C 126129 broad.mit.edu 37 19 50208532 50208532 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr19:50208532C>T uc002ppj.2 + 9 1146 c.941C>T c.(940-942)ACG>ATG p.T314M CPT1C_uc002ppl.3_Missense_Mutation_p.T280M|CPT1C_uc002ppi.2_Missense_Mutation_p.T231M|CPT1C_uc002ppk.2_Missense_Mutation_p.T303M|CPT1C_uc010eng.2_Missense_Mutation_p.T314M|CPT1C_uc010enh.2_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 314 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TTCAACACCACGCGGATTCCA 0.448 SOS1 6654 broad.mit.edu 37 2 39262448 39262448 + Missense_Mutation SNP T C C TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr2:39262448T>C uc002rrk.3 - 8 1020 c.979A>G c.(979-981)ATA>GTA p.I327V SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.I59V NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 327 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CCTTCGCCTATTGACTGGAAA 0.338 Noonan_syndrome SLC4A5 57835 broad.mit.edu 37 2 74462257 74462257 + Missense_Mutation SNP G C C TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr2:74462257G>C uc002sko.1 - 17 2406 c.2404C>G c.(2404-2406)CCC>GCC p.P802A SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 802 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 TGCAGCTTGGGAGTTTCTAGG 0.547 LRP2 4036 broad.mit.edu 37 2 170092415 170092415 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr2:170092415G>A uc002ues.2 - 29 5068 c.4855C>T c.(4855-4857)CTT>TTT p.L1619F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1619 LDL-receptor class B 13.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATGTAATCAAGATAGGAGTCC 0.453 TTN 7273 broad.mit.edu 37 2 179410964 179410964 + Silent SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr2:179410964G>A uc010zfg.1 - 291 87614 c.87390C>T c.(87388-87390)GCC>GCT p.A29130A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A22825A|TTN_uc010zfi.1_Silent_p.A22758A|TTN_uc010zfj.1_Silent_p.A22633A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30057 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGACAGACACGGCCTTGGTCC 0.428 TTN 7273 broad.mit.edu 37 2 179462736 179462736 + Missense_Mutation SNP T A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr2:179462736T>A uc010zfg.1 - 242 49681 c.49457A>T c.(49456-49458)AAG>ATG p.K16486M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10181M|TTN_uc010zfi.1_Missense_Mutation_p.K10114M|TTN_uc010zfj.1_Missense_Mutation_p.K9989M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17413 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCTCCTTCCTTTAATCCTGT 0.383 MAP2 4133 broad.mit.edu 37 2 210518141 210518141 + Missense_Mutation SNP G C C TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr2:210518141G>C uc002vde.1 + 4 495 c.247G>C c.(247-249)GAC>CAC p.D83H MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 83 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GACCTCAGCTGACAGAGAAAC 0.463 XKR7 343702 broad.mit.edu 37 20 30584473 30584473 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr20:30584473C>T uc002wxe.2 + 3 1127 c.953C>T c.(952-954)GCG>GTG p.A318V NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 318 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTGGCCTTCGCGCTCTTCGCC 0.637 JPH2 57158 broad.mit.edu 37 20 42788430 42788430 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr20:42788430C>T uc002xli.1 - 2 1870 c.997G>A c.(997-999)GAC>AAC p.D333N NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 333 MORN 8.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGGTGGCCGTCGGGCAGCGTG 0.662 PCBP3 54039 broad.mit.edu 37 21 47349908 47349908 + Silent SNP C A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr21:47349908C>A uc002zhq.1 + 10 920 c.795C>A c.(793-795)CCC>CCA p.P265P PCBP3_uc010gqb.2_Silent_p.P265P|PCBP3_uc002zhp.1_Silent_p.P265P|PCBP3_uc002zhs.1_Silent_p.P239P|PCBP3_uc002zhr.1_Silent_p.P264P|PCBP3_uc002zht.1_Silent_p.P255P NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 265 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CCGCTTTCCCCGGTACGTACC 0.567 ST3GAL6 10402 broad.mit.edu 37 3 98506930 98506930 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr3:98506930C>T uc003dsz.2 + 7 718 c.482C>T c.(481-483)ACA>ATA p.T161I ST3GAL6_uc003dsy.2_Missense_Mutation_p.T75I|ST3GAL6_uc003dta.2_Missense_Mutation_p.T43I|ST3GAL6_uc003dtb.2_Missense_Mutation_p.T17I|ST3GAL6_uc003dtc.2_Missense_Mutation_p.T161I|ST3GAL6_uc010hpd.2_Missense_Mutation_p.T214I NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 161 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 GGGAGAAGGACAACCTTCCGA 0.378 MYLK 4638 broad.mit.edu 37 3 123457797 123457797 + Nonsense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr3:123457797G>A uc003ego.2 - 7 817 c.535C>T c.(535-537)CGA>TGA p.R179* MYLK_uc011bjw.1_Nonsense_Mutation_p.R179*|MYLK_uc003egp.2_Nonsense_Mutation_p.R179*|MYLK_uc003egq.2_Nonsense_Mutation_p.R179*|MYLK_uc003egr.2_Nonsense_Mutation_p.R179*|MYLK_uc003egs.2_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179* NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 179 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGAGAATCGTCCCATCTGT 0.562 DCUN1D4 23142 broad.mit.edu 37 4 52765498 52765498 + Missense_Mutation SNP C G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:52765498C>G uc003gze.2 + 8 702 c.569C>G c.(568-570)TCT>TGT p.S190C DCUN1D4_uc003gzf.2_Missense_Mutation_p.S190C|DCUN1D4_uc011bzn.1_Missense_Mutation_p.S130C|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Missense_Mutation_p.S234C NM_001040402 NP_001035492 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain 190 DCUN1. ovary(2) 2 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) TTAAATGATTCTACAAACTTT 0.348 EPHA5 2044 broad.mit.edu 37 4 66233108 66233108 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:66233108C>T uc003hcy.2 - 10 2084 c.1891G>A c.(1891-1893)GAA>AAA p.E631K EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 631 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTTTCCTCTTCTGGATCTTGT 0.358 TSP Lung(17;0.13) SULT1B1 27284 broad.mit.edu 37 4 70596362 70596362 + Missense_Mutation SNP A G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:70596362A>G uc003hen.2 - 7 933 c.635T>C c.(634-636)CTA>CCA p.L212P NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 212 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 GTTCTTCTCTAGAAATCTAAT 0.338 SULT1B1 27284 broad.mit.edu 37 4 70596383 70596383 + Missense_Mutation SNP A C C TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:70596383A>C uc003hen.2 - 7 912 c.614T>G c.(613-615)ATC>AGC p.I205S NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 205 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 GATCTTCTTGATTTCCTCCTT 0.328 C4orf35 85438 broad.mit.edu 37 4 71201006 71201006 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:71201006G>A uc003hff.2 + 1 336 c.250G>A c.(250-252)GAC>AAC p.D84N NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 84 flagellum calcium ion binding 0 all_hematologic(202;0.196) TATGGGGACCGACTTTATTAA 0.363 TACR3 6870 broad.mit.edu 37 4 104510963 104510963 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:104510963C>T uc003hxe.1 - 5 1417 c.1274G>A c.(1273-1275)CGG>CAG p.R425Q NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 425 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TCTTTTCTTCCGACTGGACCT 0.502 NDST3 9348 broad.mit.edu 37 4 119064755 119064755 + Silent SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr4:119064755C>T uc003ibx.2 + 6 1858 c.1455C>T c.(1453-1455)TTC>TTT p.F485F NDST3_uc011cgf.1_Silent_p.F404F NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 485 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 ACACCATTTTCTACAAAGAAT 0.383 DNAH5 1767 broad.mit.edu 37 5 13841162 13841162 + Missense_Mutation SNP T A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr5:13841162T>A uc003jfd.2 - 34 5604 c.5562A>T c.(5560-5562)AAA>AAT p.K1854N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1854 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCTGCATGATTTTTTTATCAA 0.398 Kartagener_syndrome MCCC2 64087 broad.mit.edu 37 5 70945048 70945048 + Silent SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr5:70945048C>T uc003kbs.3 + 14 1479 c.1341C>T c.(1339-1341)GCC>GCT p.A447A MCCC2_uc003kbt.3_RNA NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 447 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) CCTATGGAGCCGGAAACTATG 0.463 SLC22A5 6584 broad.mit.edu 37 5 131729366 131729366 + Splice_Site SNP A G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr5:131729366A>G uc003kww.3 + 9 1715 c.1451_splice c.e9-2 p.G484_splice SLC22A5_uc003kwx.3_Splice_Site_p.G508_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCTTTGCCATAGGTGCCTACG 0.562 MAT2B 27430 broad.mit.edu 37 5 162945327 162945327 + Silent SNP T G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr5:162945327T>G uc003lzk.2 + 7 1071 c.963T>G c.(961-963)CCT>CCG p.P321P MAT2B_uc003lzj.2_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.P61P NM_013283 NP_037415 Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta isoform 321 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding upper_aerodigestive_tract(1) 1 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CACTTTGGCCTTTCCTCATTG 0.388 PKHD1 5314 broad.mit.edu 37 6 51941121 51941121 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr6:51941121G>A uc003pah.1 - 6 677 c.401C>T c.(400-402)GCG>GTG p.A134V PKHD1_uc003pai.2_Missense_Mutation_p.A134V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 134 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GGGTGTCTGCGCCTTGGAAAA 0.393 IBTK 25998 broad.mit.edu 37 6 82924066 82924066 + Silent SNP A C C TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr6:82924066A>C uc003pjl.1 - 12 2609 c.2082T>G c.(2080-2082)GTT>GTG p.V694V IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 694 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GCCTCTCACTAACTGTTTGAG 0.338 SESN1 27244 broad.mit.edu 37 6 109319765 109319765 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr6:109319765C>T uc003pst.3 - 5 838 c.746G>A c.(745-747)GGC>GAC p.G249D SESN1_uc003psu.2_Missense_Mutation_p.G308D NM_014454 NP_055269 Q9Y6P5 SESN1_HUMAN sestrin 1 249 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus ovary(1) 1 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) ACTGTGATTGCCATTTGTAAT 0.398 ZNF804B 219578 broad.mit.edu 37 7 88966247 88966247 + Silent SNP A G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr7:88966247A>G uc011khi.1 + 4 4489 c.3951A>G c.(3949-3951)GTA>GTG p.V1317V NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1317 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCCAACCAGTATTCCAAGGTC 0.413 HNSCC(36;0.09) PPP1R3A 5506 broad.mit.edu 37 7 113518248 113518248 + Missense_Mutation SNP G T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr7:113518248G>T uc010ljy.1 - 4 2930 c.2899C>A c.(2899-2901)CCT>ACT p.P967T NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 967 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TCAGGATAAGGGTGCTTCTCA 0.383 PLXNA4 91584 broad.mit.edu 37 7 131866156 131866156 + Missense_Mutation SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr7:131866156G>A uc003vra.3 - 18 3705 c.3476C>T c.(3475-3477)ACG>ATG p.T1159M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1159 IPT/TIG 4.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GATGATGGGCGTGCCAGGCTT 0.582 Unknown 0 broad.mit.edu 37 7 142000857 142000857 + Missense_Mutation SNP C A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr7:142000857C>A uc011kro.1 + 1 82 c.37C>A c.(37-39)CTC>ATC p.L13I SubName: Full=V_segment translation product; Flags: Fragment; AATTTTTAGTCTCTTGAAAGC 0.443 GIMAP8 155038 broad.mit.edu 37 7 150171329 150171329 + Silent SNP G A A TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr7:150171329G>A uc003whj.2 + 4 1242 c.912G>A c.(910-912)CCG>CCA p.P304P NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 304 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TTGATGCTCCGGACATCTCAT 0.458 TEX15 56154 broad.mit.edu 37 8 30702861 30702861 + Missense_Mutation SNP C T T TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr8:30702861C>T uc003xil.2 - 1 3673 c.3673G>A c.(3673-3675)GCT>ACT p.A1225T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1225 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ACTTCATTAGCGTCACAACTG 0.299 FAM135B 51059 broad.mit.edu 37 8 139209806 139209806 + Missense_Mutation SNP A G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr8:139209806A>G uc003yuy.2 - 8 947 c.776T>C c.(775-777)TTC>TCC p.F259S FAM135B_uc003yux.2_Missense_Mutation_p.F160S|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 259 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GATCACCAGGAAGTGGAGACG 0.612 HNSCC(54;0.14) ZNF79 7633 broad.mit.edu 37 9 130206381 130206381 + Missense_Mutation SNP G C C TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chr9:130206381G>C uc004bqw.3 + 5 816 c.402G>C c.(400-402)GAG>GAC p.E134D ZNF79_uc011maf.1_Missense_Mutation_p.E110D|ZNF79_uc011mag.1_Missense_Mutation_p.E110D NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CATGTGTAGAGATGCCCCCTG 0.502 ZCCHC5 203430 broad.mit.edu 37 X 77913028 77913028 + Missense_Mutation SNP A G G TCGA-27-1830-01A-01W-0643-08 TCGA-27-1830-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx b391392a-9865-4bf4-b5f1-fa4fb2ad1343 79d0add1-1203-45bd-a50e-3ab5bcacc03d g.chrX:77913028A>G uc004edc.1 - 2 1186 c.890T>C c.(889-891)ATC>ACC p.I297T NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 297 nucleic acid binding|zinc ion binding ovary(1) 1 GGGGCTTTGGATATCCAGTAA 0.483