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 TIE1 7075 broad.mit.edu 37 1 43778133 43778133 + Silent SNP C T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:43778133C>T uc001ciu.2 + 12 1867 c.1788C>T c.(1786-1788)AAC>AAT p.N596N TIE1_uc010okd.1_Silent_p.N596N|TIE1_uc010oke.1_Silent_p.N551N|TIE1_uc009vwq.2_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.1_Silent_p.N241N NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 596 Fibronectin type-III 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCGGGAGAACGTCTCATCCC 0.697 DNAJB4 11080 broad.mit.edu 37 1 78478954 78478954 + Missense_Mutation SNP G C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:78478954G>C uc001dij.2 + 2 590 c.431G>C c.(430-432)AGA>ACA p.R144T DNAJB4_uc010orn.1_Missense_Mutation_p.R29T NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 144 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 GGATATCCAAGAGACAGGAAT 0.413 S100A8 6279 broad.mit.edu 37 1 153362982 153362982 + Missense_Mutation SNP G T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:153362982G>T uc001fbs.2 - 2 85 c.30C>A c.(28-30)AAC>AAA p.N10K NM_002964 NP_002955 P05109 S10A8_HUMAN S100 calcium-binding protein A8 10 chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CGATGATAGAGTTCAAGGCTT 0.502 C1orf14 81626 broad.mit.edu 37 1 182920519 182920519 + Silent SNP A T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:182920519A>T uc001gpu.2 - 2 774 c.489T>A c.(487-489)ACT>ACA p.T163T C1orf14_uc001gpv.2_Silent_p.T44T|C1orf14_uc010pnz.1_Silent_p.T21T|C1orf14_uc001gpw.2_5'UTR NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 235 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) CACTGGGATTAGTCTTCCAGA 0.318 CFHR4 10877 broad.mit.edu 37 1 196887345 196887345 + Missense_Mutation SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:196887345T>C uc001gto.2 + 6 874 c.805T>C c.(805-807)TGT>CGT p.C269R CFHR4_uc009wyy.2_Missense_Mutation_p.C515R|CFHR4_uc001gtp.2_Missense_Mutation_p.C516R NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 269 Sushi 5. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TTCAGATCCATGTATAATAAC 0.259 CACNA1S 779 broad.mit.edu 37 1 201042718 201042718 + Missense_Mutation SNP C G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:201042718C>G uc001gvv.2 - 15 2343 c.2116G>C c.(2116-2118)GAG>CAG p.E706Q NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 706 Cytoplasmic (Potential). 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) GGTTTCTGCTCCAGCTTCTTG 0.542 USH2A 7399 broad.mit.edu 37 1 216348801 216348801 + Missense_Mutation SNP G C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr1:216348801G>C uc001hku.1 - 21 4807 c.4420C>G c.(4420-4422)CTG>GTG p.L1474V USH2A_uc001hkv.2_Missense_Mutation_p.L1474V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1474 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCTTTAACCAGAGGTGGCCTC 0.403 HNSCC(13;0.011) DLG5 9231 broad.mit.edu 37 10 79581222 79581222 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr10:79581222G>A uc001jzk.2 - 15 3090 c.3020C>T c.(3019-3021)GCG>GTG p.A1007V DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A611V NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1007 Pro-rich. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CAGAGGCCCCGCCCTCTTGGA 0.592 CDHR1 92211 broad.mit.edu 37 10 85972090 85972090 + Missense_Mutation SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr10:85972090A>G uc001kcv.2 + 15 1709 c.1709A>G c.(1708-1710)AAT>AGT p.N570S CDHR1_uc001kcw.2_Missense_Mutation_p.N570S|CDHR1_uc009xst.2_Missense_Mutation_p.N274S|CDHR1_uc001kcx.2_5'Flank NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 570 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CTGGATGTCAATGACCACCCC 0.522 TRPM5 29850 broad.mit.edu 37 11 2434731 2434731 + Missense_Mutation SNP C T T rs149949624 byFrequency TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr11:2434731C>T uc001lwm.3 - 13 1987 c.1978G>A c.(1978-1980)GTC>ATC p.V660I TRPM5_uc010qxl.1_Missense_Mutation_p.V660I|TRPM5_uc009ydn.2_Missense_Mutation_p.V662I NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 660 Helical; (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TTGGTATAGACGAGGGCGGGG 0.677 OR52B6 340980 broad.mit.edu 37 11 5602310 5602310 + Silent SNP C A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr11:5602310C>A uc010qzi.1 + 1 204 c.204C>A c.(202-204)GTC>GTA p.V68V HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 68 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAATTTGTGTCATCCTCTCCC 0.522 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5656037 5656037 + Missense_Mutation SNP G T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr11:5656037G>T uc001mbf.2 + 10 2002 c.1758G>T c.(1756-1758)GAG>GAT p.E586D HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.E232D|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Missense_Mutation_p.E232D|TRIM34_uc001mbj.2_Missense_Mutation_p.E232D NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 586 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) TGGTGAGAGAGCTCATCTCAG 0.488 MRVI1 10335 broad.mit.edu 37 11 10673684 10673684 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr11:10673684G>A uc010rcc.1 - 2 499 c.113C>T c.(112-114)GCG>GTG p.A38V MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 29 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CGGAACCTCCGCTGCGTCAGC 0.647 MS4A8B 83661 broad.mit.edu 37 11 60470903 60470903 + Missense_Mutation SNP C T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr11:60470903C>T uc001npv.2 + 3 475 c.272C>T c.(271-273)GCG>GTG p.A91V MS4A8B_uc009yne.1_Missense_Mutation_p.A91V NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 91 Helical; (Potential). integral to membrane receptor activity 0 TCCATCATGGCGACGGTTCTC 0.552 HRASLS5 117245 broad.mit.edu 37 11 63257740 63257740 + Missense_Mutation SNP C G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr11:63257740C>G uc001nwy.2 - 2 418 c.244G>C c.(244-246)GAA>CAA p.E82Q HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_RNA NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 82 ovary(1) 1 CTGCCCTGTTCTAATGTGCCC 0.498 PFKM 5213 broad.mit.edu 37 12 48529142 48529142 + Silent SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:48529142G>A uc001rrc.2 + 10 1082 c.912G>A c.(910-912)ACG>ACA p.T304T PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Silent_p.T375T|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Silent_p.T304T|PFKM_uc001rrg.1_Intron NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 304 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 GGGGTGGGACGCCATCAGCCT 0.572 ESPL1 9700 broad.mit.edu 37 12 53663316 53663316 + Missense_Mutation SNP G T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:53663316G>T uc001sck.2 + 3 681 c.590G>T c.(589-591)CGA>CTA p.R197L ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 197 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 ACAGCCTGTCGAGCGGTAGCT 0.517 SP1 6667 broad.mit.edu 37 12 53804896 53804896 + Missense_Mutation SNP A T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:53804896A>T uc001scw.2 + 6 2327 c.2230A>T c.(2230-2232)ATT>TTT p.I744F SP1_uc010sog.1_Missense_Mutation_p.I737F NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 744 Domain D.|VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) TTCAGCCCTTATTACCACCAA 0.572 ITGA7 3679 broad.mit.edu 37 12 56087909 56087909 + Splice_Site SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:56087909T>C uc001shh.2 - 19 2665 c.2445_splice c.e19-1 p.G815_splice ITGA7_uc001shg.2_Splice_Site_p.G811_splice|ITGA7_uc010sps.1_Splice_Site_p.G718_splice|ITGA7_uc009znw.2_Splice_Site_p.G58_splice|ITGA7_uc009znx.2_Splice_Site_p.G692_splice NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 ATGGCCATTCTGGCGTGGAGA 0.592 MTERFD3 80298 broad.mit.edu 37 12 107372183 107372183 + Missense_Mutation SNP C T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:107372183C>T uc001tme.1 - 2 2129 c.310G>A c.(310-312)GCA>ACA p.A104T MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T NM_025198 NP_079474 Q49AM1 MTER3_HUMAN transcription termination factor-like protein 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding 0 CAGACAATTGCTTCCGGGCAG 0.423 EIF2B1 1967 broad.mit.edu 37 12 124116941 124116941 + Silent SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:124116941T>C uc001ufm.2 - 2 209 c.66A>G c.(64-66)TCA>TCG p.S22S GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc001ufn.2_Silent_p.S22S|EIF2B1_uc010tat.1_Silent_p.S22S NM_001414 NP_001405 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, 22 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) CAGCCACTGCTGAGGCCATGT 0.398 FZD10 11211 broad.mit.edu 37 12 130648643 130648643 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr12:130648643G>A uc001uii.2 + 1 1612 c.1156G>A c.(1156-1158)GTG>ATG p.V386M uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 386 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GGTCTGCTACGTGGGCAGCAT 0.657 C13orf26 122046 broad.mit.edu 37 13 31531137 31531137 + Missense_Mutation SNP C G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr13:31531137C>G uc001uti.2 + 4 459 c.440C>G c.(439-441)ACT>AGT p.T147S NM_152325 NP_689538 Q8N6G2 CM026_HUMAN hypothetical protein LOC122046 147 ovary(2)|skin(1) 3 Lung SC(185;0.0281) all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852) ATTTCCCTTACTAAGAGAGAC 0.318 SLC15A1 6564 broad.mit.edu 37 13 99378425 99378425 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr13:99378425G>A uc001vno.2 - 4 274 c.197C>T c.(196-198)ACG>ATG p.T66M SLC15A1_uc001vnp.1_Missense_Mutation_p.T34M NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 66 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GAGAATTGGCGTCAGGTAGCA 0.463 CHD8 57680 broad.mit.edu 37 14 21870120 21870120 + Missense_Mutation SNP G C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr14:21870120G>C uc001was.1 - 20 3315 c.3221C>G c.(3220-3222)GCT>GGT p.A1074G CHD8_uc001war.1_Missense_Mutation_p.A970G|CHD8_uc001wav.1_Missense_Mutation_p.A516G NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1353 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACATGCCTTAGCAAAGGTGGA 0.353 NYNRIN 57523 broad.mit.edu 37 14 24878580 24878580 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr14:24878580G>A uc001wpf.3 + 4 1898 c.1580G>A c.(1579-1581)GGG>GAG p.G527E NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 527 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GTGGCTCAAGGGGGGCTGACA 0.567 FRMD6 122786 broad.mit.edu 37 14 52194629 52194629 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr14:52194629G>A uc001wzd.2 + 14 2036 c.1751G>A c.(1750-1752)TGC>TAC p.C584Y FRMD6_uc001wzb.2_Missense_Mutation_p.C576Y|FRMD6_uc001wzc.2_Missense_Mutation_p.C576Y|FRMD6_uc001wze.2_Missense_Mutation_p.C507Y|FRMD6_uc001wzf.2_Missense_Mutation_p.C277Y|FRMD6_uc001wzg.2_Missense_Mutation_p.C226Y NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 584 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGCCTCTATTGCAACAGTTGC 0.468 SYNE2 23224 broad.mit.edu 37 14 64540771 64540771 + Silent SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr14:64540771T>C uc001xgm.2 + 53 11013 c.10783T>C c.(10783-10785)TTG>CTG p.L3595L SYNE2_uc001xgl.2_Silent_p.L3595L|SYNE2_uc010apy.2_5'Flank|SYNE2_uc010apw.1_Silent_p.L301L|SYNE2_uc010apx.1_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3595 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GATAATTGCTTTGAAGAATTT 0.358 TUBGCP5 114791 broad.mit.edu 37 15 22835924 22835924 + Missense_Mutation SNP G T T rs143778036 TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr15:22835924G>T uc001yur.3 + 2 285 c.155G>T c.(154-156)CGT>CTT p.R52L TUBGCP5_uc001yuq.2_Missense_Mutation_p.R52L NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 52 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) AGATTTCATCGTTTCTTGGAT 0.368 KCTD19 146212 broad.mit.edu 37 16 67331487 67331487 + Missense_Mutation SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr16:67331487T>C uc002esu.2 - 7 1117 c.1066A>G c.(1066-1068)AGG>GGG p.R356G KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 356 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GTGATGTCCCTTTTGTCTAGG 0.517 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G A A rs121913343 TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) DNAH9 1770 broad.mit.edu 37 17 11696846 11696846 + Silent SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr17:11696846T>C uc002gne.2 + 42 8156 c.8088T>C c.(8086-8088)TGT>TGC p.C2696C DNAH9_uc010coo.2_Silent_p.C1990C NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2696 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGTGGAATGTGTGAAATCCA 0.388 BPTF 2186 broad.mit.edu 37 17 65862640 65862640 + Silent SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr17:65862640A>G uc002jgf.2 + 3 1558 c.1497A>G c.(1495-1497)CAA>CAG p.Q499Q BPTF_uc002jge.2_Silent_p.Q499Q|BPTF_uc010wqm.1_Silent_p.Q499Q NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 499 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAAGGTCCAACTTGCAGAAT 0.343 MIB1 57534 broad.mit.edu 37 18 19321653 19321653 + Missense_Mutation SNP G C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr18:19321653G>C uc002ktq.2 + 1 109 c.109G>C c.(109-111)GGC>CGC p.G37R MIB1_uc002ktp.2_Intron NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 37 MIB/HERC2 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) GGGCCATGTGGGCACCGTCCG 0.677 SOCS6 9306 broad.mit.edu 37 18 67992496 67992496 + Missense_Mutation SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr18:67992496A>G uc002lkr.1 + 2 908 c.592A>G c.(592-594)AAT>GAT p.N198D SOCS6_uc010dqq.2_Missense_Mutation_p.N198D NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 198 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GGCTTCTCATAATGGAGACCT 0.512 LMNB2 84823 broad.mit.edu 37 19 2444529 2444529 + Missense_Mutation SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr19:2444529T>C uc002lvy.2 - 2 301 c.214A>G c.(214-216)ATC>GTC p.I72V LMNB2_uc002lwa.1_Missense_Mutation_p.I92V NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 72 Rod.|Linker 1. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGCCTTGATGCCACTCACC 0.642 PGLS 25796 broad.mit.edu 37 19 17626983 17626983 + Missense_Mutation SNP C T T rs143569199 TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr19:17626983C>T uc002ngw.2 + 2 340 c.290C>T c.(289-291)ACG>ATG p.T97M NM_012088 NP_036220 O95336 6PGL_HUMAN 6-phosphogluconolactonase 97 cytosol 6-phosphogluconolactonase activity 0 TGGCTGCAGACGCATCTTCTC 0.433 ZNF233 353355 broad.mit.edu 37 19 44778066 44778066 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr19:44778066G>A uc002oyz.1 + 5 1380 c.1253G>A c.(1252-1254)AGA>AAA p.R418K ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.R233K NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 418 C2H2-type 5; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) GCCCATCAGAGAGGTCACTCT 0.418 PEG3 5178 broad.mit.edu 37 19 57328400 57328400 + Silent SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr19:57328400G>A uc002qnu.2 - 7 1761 c.1410C>T c.(1408-1410)CAC>CAT p.H470H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.H441H|PEG3_uc002qnv.2_Silent_p.H470H|PEG3_uc002qnw.2_Silent_p.H346H|PEG3_uc002qnx.2_Silent_p.H344H|PEG3_uc010etr.2_Silent_p.H470H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 470 C2H2-type 1. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCATGATCTGGTGCTCAACAA 0.458 TTC27 55622 broad.mit.edu 37 2 33036261 33036261 + Missense_Mutation SNP G C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr2:33036261G>C uc002rom.2 + 17 2400 c.2169G>C c.(2167-2169)CAG>CAC p.Q723H TTC27_uc010ymx.1_Missense_Mutation_p.Q673H|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 723 protein binding central_nervous_system(1) 1 GAAATGGGCAGAGTGAAAAGC 0.428 INO80B 83444 broad.mit.edu 37 2 74684891 74684891 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr2:74684891G>A uc002slg.2 + 5 1016 c.971G>A c.(970-972)CGC>CAC p.R324H INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Missense_Mutation_p.R296H|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.R342H|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank NM_031288 NP_112578 Q9C086 IN80B_HUMAN high mobility group AT-hook 1-like 4 324 HIT-type. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding pancreas(1) 1 GCTTGCTCCCGCACAGGCCAG 0.697 KIF5C 3800 broad.mit.edu 37 2 149857246 149857246 + Missense_Mutation SNP G C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr2:149857246G>C uc010zbu.1 + 21 2691 c.2323G>C c.(2323-2325)GAT>CAT p.D775H KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.D57H NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 775 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) ATTGCTCAACGATAAAAGGGA 0.423 COQ10B 80219 broad.mit.edu 37 2 198318368 198318368 + Silent SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr2:198318368G>A uc002uuh.1 + 1 138 c.84G>A c.(82-84)CAG>CAA p.Q28Q COQ10B_uc010fsl.1_5'Flank NM_025147 NP_079423 Q9H8M1 CQ10B_HUMAN coenzyme Q10 homolog B precursor 28 mitochondrial inner membrane 0 Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246) CCGGGGCGCAGGCGCCCGTGC 0.627 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C T T rs121913500 TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr2:209113112C>T uc002vcs.2 - 4 641 c.395G>A c.(394-396)CGT>CAT p.R132H IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma ACOT8 10005 broad.mit.edu 37 20 44477248 44477248 + Missense_Mutation SNP C T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr20:44477248C>T uc002xqa.1 - 3 410 c.329G>A c.(328-330)CGC>CAC p.R110H ACOT8_uc010zxe.1_Missense_Mutation_p.R110H|ACOT8_uc002xqc.1_Missense_Mutation_p.R57H|ACOT8_uc010zxf.1_Intron NM_005469 NP_005460 O14734 ACOT8_HUMAN peroxisomal acyl-CoA thioesterase 1 isoform a 110 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CTTCACAGAGCGCACCGAGAA 0.627 SMARCC1 6599 broad.mit.edu 37 3 47755965 47755965 + Silent SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr3:47755965G>A uc003crq.2 - 8 850 c.732C>T c.(730-732)GTC>GTT p.V244V SMARCC1_uc011bbd.1_Silent_p.V135V NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 244 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CATTACTATGGACCCAAGTAT 0.274 ITIH1 3697 broad.mit.edu 37 3 52822082 52822082 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr3:52822082G>A uc003dfs.2 + 17 2029 c.2005G>A c.(2005-2007)GTG>ATG p.V669M ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.V270M|ITIH1_uc010hmo.1_Missense_Mutation_p.V223M|ITIH1_uc003dfu.2_Missense_Mutation_p.V35M NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 669 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) AGTGACCGGCGGTGAGTCCTT 0.607 DZIP1L 199221 broad.mit.edu 37 3 137799416 137799416 + Silent SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr3:137799416T>C uc003erq.2 - 10 1644 c.1281A>G c.(1279-1281)CCA>CCG p.P427P DZIP1L_uc003err.1_Silent_p.P427P NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 427 intracellular zinc ion binding ovary(1)|pancreas(1) 2 CACCTTCCTCTGGAGAGTCCT 0.522 ZBTB38 253461 broad.mit.edu 37 3 141162963 141162963 + Missense_Mutation SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr3:141162963A>G uc003etw.2 + 8 2715 c.1733A>G c.(1732-1734)TAT>TGT p.Y578C ZBTB38_uc010hun.2_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.2_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.2_Missense_Mutation_p.Y578C|ZBTB38_uc010hup.2_Missense_Mutation_p.Y579C NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 578 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AGAGCCCCTTATAAGAGCTAC 0.408 TRIML1 339976 broad.mit.edu 37 4 189068016 189068016 + Silent SNP C T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr4:189068016C>T uc003izm.1 + 6 1012 c.897C>T c.(895-897)CTC>CTT p.L299L TRIML1_uc003izn.1_Silent_p.L23L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 299 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ATGCCTATCTCGTGTTGTCGG 0.512 CNOT8 9337 broad.mit.edu 37 5 154250226 154250226 + Missense_Mutation SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr5:154250226A>G uc003lvu.2 + 5 796 c.317A>G c.(316-318)GAC>GGC p.D106G CNOT8_uc011ddf.1_5'UTR|CNOT8_uc011ddg.1_5'UTR|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.D106G|CNOT8_uc010jig.2_5'UTR|CNOT8_uc010jif.2_5'UTR|CNOT8_uc003lvw.2_Missense_Mutation_p.D106G|CNOT8_uc011ddi.1_5'UTR|CNOT8_uc011ddj.1_Intron NM_004779 NP_004770 Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 106 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTTAGAGAGGACATGTACTCC 0.393 Direct_reversal_of_damage HIST1H1T 3010 broad.mit.edu 37 6 26107726 26107726 + Missense_Mutation SNP T A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr6:26107726T>A uc003ngj.2 - 1 639 c.596A>T c.(595-597)AAT>ATT p.N199I NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 199 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 CTTTCTAACATTAACTTCATG 0.448 NCOA7 135112 broad.mit.edu 37 6 126210501 126210501 + Missense_Mutation SNP A T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr6:126210501A>T uc010kes.2 + 11 1750 c.1301A>T c.(1300-1302)GAC>GTC p.D434V NCOA7_uc003qae.3_Missense_Mutation_p.D434V|NCOA7_uc003qah.2_Missense_Mutation_p.D423V|NCOA7_uc003qai.2_Missense_Mutation_p.D434V|NCOA7_uc010ket.2_Missense_Mutation_p.D319V NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 434 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CACAAAAAAGACACCTTGAAG 0.423 TNRC18 84629 broad.mit.edu 37 7 5354614 5354614 + Splice_Site SNP C A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr7:5354614C>A uc003soi.3 - 26 7376 c.7027_splice c.e26+1 p.D2343_splice NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCCAACCTACCACCCTTGGC 0.672 OGDH 4967 broad.mit.edu 37 7 44747273 44747273 + Silent SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr7:44747273A>G uc003tln.2 + 22 2998 c.2889A>G c.(2887-2889)CAA>CAG p.Q963Q OGDH_uc011kbx.1_Silent_p.Q959Q|OGDH_uc011kby.1_Silent_p.Q813Q|OGDH_uc003tlp.2_Silent_p.Q974Q|OGDH_uc011kbz.1_Silent_p.Q758Q NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 963 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) ACAAGAACCAAGGCTACTATG 0.592 ERLIN2 11160 broad.mit.edu 37 8 37611537 37611537 + Silent SNP T C C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr8:37611537T>C uc003xke.3 + 12 1039 c.924T>C c.(922-924)TCT>TCC p.S308S NM_007175 NP_009106 O94905 ERLN2_HUMAN ER lipid raft associated 2 isoform 1 308 Interaction with ERLIN1.|Lumenal (Potential). ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding 0 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TCATGGACTCTGCGGGCAGTG 0.463 LAPTM4B 55353 broad.mit.edu 37 8 98863639 98863639 + Silent SNP G A A rs147233429 TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr8:98863639G>A uc003yia.2 + 7 1047 c.891G>A c.(889-891)CCG>CCA p.P297P LAPTM4B_uc010mbg.2_Silent_p.P129P NM_018407 NP_060877 Q86VI4 LAP4B_HUMAN lysosomal associated transmembrane protein 4 350 transport endomembrane system|integral to membrane protein binding skin(1) 1 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) TGCTACCCCCGTATGATGATG 0.527 C9orf79 286234 broad.mit.edu 37 9 90499950 90499950 + Missense_Mutation SNP A G G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr9:90499950A>G uc004app.3 + 4 583 c.548A>G c.(547-549)GAT>GGT p.D183G C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 183 Pro-rich. integral to membrane ovary(3) 3 TGCATGCAAGATCCGTCTCCT 0.627 AK1 203 broad.mit.edu 37 9 130630690 130630691 + Frame_Shift_Ins INS - T T TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chr9:130630690_130630691insT uc004bsm.3 - 6 578_579 c.425_426insA c.(424-426)AATfs p.N142fs NM_000476 NP_000467 P00568 KAD1_HUMAN adenylate kinase 1 142 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding 0 TGGTCTCCTCATTGTCGTCCAC 0.574 KDM5C 8242 broad.mit.edu 37 X 53223866 53223866 + Missense_Mutation SNP G A A TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 17e25583-886e-4dc9-802b-35e67971073d 251ab65c-abbf-4357-902b-bb1f5070536d g.chrX:53223866G>A uc004drz.2 - 23 4026 c.3493C>T c.(3493-3495)CGT>TGT p.R1165C KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R1098C|KDM5C_uc004dsa.2_Missense_Mutation_p.R1164C|uc004dsb.1_RNA NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 1165 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 TTGGTGCGACGCAGCTGCAGG 0.612 N|F|S clear cell renal carcinoma