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 MST1P9 11223 broad.mit.edu 37 1 17084961 17084961 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr1:17084961C>T uc010ock.1 - 11 1514 c.1514G>A c.(1513-1515)CGC>CAC p.R505H CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.R79Q NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TGTGCCTCACCGATTCCGCAA 0.622 MAGOH 4116 broad.mit.edu 37 1 53692748 53692748 + Missense_Mutation SNP A G G TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr1:53692748A>G uc001cvf.1 - 5 498 c.410T>C c.(409-411)ATT>ACT p.I137T MAGOH_uc010ont.1_Missense_Mutation_p.I100T NM_002370 NP_002361 P61326 MGN_HUMAN mago-nashi homolog 137 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding 0 GTGTAATCCAATAAGACTGAA 0.378 VPS72 6944 broad.mit.edu 37 1 151149180 151149180 + Silent SNP A T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr1:151149180A>T uc001exe.1 - 6 1078 c.1035T>A c.(1033-1035)CCT>CCA p.P345P TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank NM_005997 NP_005988 Q15906 VPS72_HUMAN transcription factor-like 1 345 Poly-Pro.|Pro-rich. chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|pancreas(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGGGCTCAGGAGGTGGCGGGC 0.572 YY1AP1 55249 broad.mit.edu 37 1 155646478 155646478 + Missense_Mutation SNP A G G TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr1:155646478A>G uc001fln.2 - 5 407 c.383T>C c.(382-384)TTT>TCT p.F128S YY1AP1_uc010pgg.1_5'UTR|YY1AP1_uc010pgh.1_Missense_Mutation_p.F51S|YY1AP1_uc010pgi.1_Missense_Mutation_p.F200S|YY1AP1_uc001flh.2_Missense_Mutation_p.F200S|YY1AP1_uc009wqt.2_Missense_Mutation_p.F51S|YY1AP1_uc001flk.2_Missense_Mutation_p.F51S|YY1AP1_uc001fll.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.F51S|YY1AP1_uc001fli.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.F62S|YY1AP1_uc009wqw.2_Missense_Mutation_p.F51S|YY1AP1_uc001flo.2_5'UTR|YY1AP1_uc001flp.2_Missense_Mutation_p.F62S|YY1AP1_uc010pgj.1_Missense_Mutation_p.F128S|YY1AP1_uc009wqx.2_Missense_Mutation_p.F200S|YY1AP1_uc010pgk.1_Missense_Mutation_p.F200S NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 128 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CAGCTGTTCAAATAGTTCCTT 0.438 PEAR1 375033 broad.mit.edu 37 1 156875138 156875138 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr1:156875138C>T uc001fqj.1 + 4 345 c.229C>T c.(229-231)CGT>TGT p.R77C PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 77 EMI. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GACCGTGTACCGTCAGGTGGT 0.657 CD5L 922 broad.mit.edu 37 1 157804444 157804444 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr1:157804444G>A uc001frk.3 - 4 614 c.471C>T c.(469-471)AAC>AAT p.N157N NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 157 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TATACCACTGGTTCTGGTGCT 0.622 OR4C46 119749 broad.mit.edu 37 11 51516009 51516009 + Missense_Mutation SNP C T T rs137991158 TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr11:51516009C>T uc010ric.1 + 1 728 c.728C>T c.(727-729)ACG>ATG p.T243M NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCCCACATCACGGTTGTCATC 0.468 LRRC23 10233 broad.mit.edu 37 12 7021983 7021983 + Missense_Mutation SNP C T T rs78482853 by1000genomes TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:7021983C>T uc001qrt.3 + 7 1240 c.848C>T c.(847-849)ACG>ATG p.T283M LRRC23_uc001qrp.2_Missense_Mutation_p.T283M|LRRC23_uc001qrq.2_Intron|LRRC23_uc001qrr.2_Missense_Mutation_p.T232M|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank NM_001135217 NP_001128689 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 isoform a 283 LRRCT. ovary(1) 1 AACCCATGCACGGACGAAACC 0.602 PTPN6 5777 broad.mit.edu 37 12 7061224 7061224 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:7061224G>A uc001qsb.2 + 3 452 c.210G>A c.(208-210)GCG>GCA p.A70A PTPN6_uc001qsa.1_Silent_p.A72A|PTPN6_uc010sfr.1_Silent_p.A31A|PTPN6_uc009zfl.1_Silent_p.A70A|PTPN6_uc010sfs.1_Silent_p.A58A NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 70 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 AGAAGTTTGCGACTCTGACAG 0.587 ADAMTS20 80070 broad.mit.edu 37 12 43823483 43823483 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:43823483G>A uc010skx.1 - 24 3426 c.3426C>T c.(3424-3426)ACC>ACT p.T1142T ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Silent_p.T296T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1142 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTAATAAAGCGGTCTCAAGTT 0.338 GALNT4 8693 broad.mit.edu 37 12 89917757 89917757 + Silent SNP G T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:89917757G>T uc001tbd.2 - 1 779 c.570C>A c.(568-570)ATC>ATA p.I190I POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Silent_p.I187I|GALNT4_uc010suo.1_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 190 Lumenal (Potential).|Catalytic subdomain A. carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 CAAGATTGCTGATGTAAGTTT 0.458 OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RIC8B 55188 broad.mit.edu 37 12 107177813 107177814 + Frame_Shift_Ins INS - A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:107177813_107177814insA uc001tlx.2 + 2 248_249 c.123_124insA c.(121-126)GATAAAfs p.D41fs RIC8B_uc001tlw.2_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.2_5'UTR|RIC8B_uc001tlz.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 41_42 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 CAGATGAAGATAAAAGAAAGGT 0.351 USP30 84749 broad.mit.edu 37 12 109495849 109495849 + Silent SNP C A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:109495849C>A uc010sxi.1 + 3 416 c.312C>A c.(310-312)TCC>TCA p.S104S USP30_uc001tnu.3_Silent_p.S73S NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 104 Cytoplasmic (Potential). ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(1) 1 CCCAGTACTCCAGGGATCAGA 0.478 CCDC60 160777 broad.mit.edu 37 12 119773039 119773039 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr12:119773039C>T uc001txe.2 + 1 523 c.58C>T c.(58-60)CGG>TGG p.R20W NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 20 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGGGGCTGTCCGGCCCTTTTA 0.463 EXD1 161829 broad.mit.edu 37 15 41501708 41501708 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr15:41501708G>A uc001znk.2 - 5 542 c.351C>T c.(349-351)TGC>TGT p.C117C EXD1_uc010ucv.1_Silent_p.C175C NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 117 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 CCTGCAGCCAGCACAGTTTGC 0.373 PKD1L2 114780 broad.mit.edu 37 16 81175094 81175094 + Missense_Mutation SNP C G G TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr16:81175094C>G uc002fgh.1 - 31 5225 c.5225G>C c.(5224-5226)AGT>ACT p.S1742T PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1742 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCAGGGGCCACTCCGTGCCGC 0.582 POLR2A 5430 broad.mit.edu 37 17 7417217 7417217 + Frame_Shift_Del DEL T - - TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr17:7417217delT uc002ghf.3 + 29 5868 c.5634delT c.(5632-5634)AGTfs p.S1878fs NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1878 41.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CGCCTACCAGTcccacctatt 0.269 AZI1 22994 broad.mit.edu 37 17 79164553 79164553 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr17:79164553C>T uc002jzp.1 - 24 3202 c.3002G>A c.(3001-3003)CGC>CAC p.R1001H AZI1_uc002jzm.1_Missense_Mutation_p.R433H|AZI1_uc002jzn.1_Missense_Mutation_p.R998H|AZI1_uc002jzo.1_Missense_Mutation_p.R962H|AZI1_uc010wum.1_Missense_Mutation_p.R965H|AZI1_uc002jzq.2_Missense_Mutation_p.R149H NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 1001 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GAACTCCTGGCGGATCACCTG 0.692 DSG4 147409 broad.mit.edu 37 18 28989414 28989414 + Splice_Site SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr18:28989414G>A uc002kwq.2 + 13 2069 c.1934_splice c.e13-1 p.L645_splice DSG4_uc002kwr.2_Splice_Site_p.L645_splice NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTCTTGGGCAGTGGCTCCACT 0.498 C18orf34 374864 broad.mit.edu 37 18 30950074 30950074 + Silent SNP G C C TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr18:30950074G>C uc002kxn.2 - 5 430 c.288C>G c.(286-288)GTC>GTG p.V96V C18orf34_uc010xbr.1_Silent_p.V96V|C18orf34_uc010dmf.1_Silent_p.V96V|C18orf34_uc002kxo.2_Silent_p.V96V|C18orf34_uc002kxp.2_Silent_p.V96V NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 96 ovary(1) 1 TCATTTTGTTGACACAAGGTG 0.378 SERPINB13 5275 broad.mit.edu 37 18 61262397 61262397 + Silent SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr18:61262397C>T uc002ljc.2 + 7 918 c.750C>T c.(748-750)AAC>AAT p.N250N SERPINB13_uc002ljd.2_Silent_p.N114N|SERPINB13_uc010xep.1_Silent_p.N259N|SERPINB13_uc010xeq.1_Silent_p.N71N|SERPINB13_uc010xer.1_Silent_p.N71N NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 250 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 TTCTGCCCAACGACATCGATG 0.458 TJP3 27134 broad.mit.edu 37 19 3728405 3728405 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr19:3728405C>T uc010xhv.1 + 1 32 c.32C>T c.(31-33)CCC>CTC p.P11L TJP3_uc010xhs.1_Intron|TJP3_uc010xht.1_Intron|TJP3_uc010xhu.1_Intron|TJP3_uc010xhw.1_Missense_Mutation_p.P11L NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 Error:Variant_position_missing_in_O95049_after_alignment tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CCCATCTTCCCCGCTCCCCTC 0.413 CD70 970 broad.mit.edu 37 19 6586314 6586314 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr19:6586314C>T uc002mfi.2 - 3 449 c.299G>A c.(298-300)CGT>CAT p.R100H CD70_uc010xjf.1_Missense_Mutation_p.R100H NM_001252 NP_001243 P32970 CD70_HUMAN tumor necrosis factor ligand superfamily, member 100 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding 0 GATGCCATCACGATGGATACG 0.642 RETN 56729 broad.mit.edu 37 19 7734784 7734784 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr19:7734784G>A uc002mhf.1 + 3 242 c.196G>A c.(196-198)GGC>AGC p.G66S RETN_uc002mhg.1_Missense_Mutation_p.G66S|RETN_uc010dvm.1_Intron NM_020415 NP_065148 Q9HD89 RETN_HUMAN resistin 66 hormone activity ovary(1) 1 TTGCCCCCGAGGTGAGTGCAG 0.627 PODNL1 79883 broad.mit.edu 37 19 14046601 14046601 + Missense_Mutation SNP C T T rs147712582 byFrequency TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr19:14046601C>T uc002mxr.2 - 5 722 c.448G>A c.(448-450)GCG>ACG p.A150T PODNL1_uc010xni.1_Missense_Mutation_p.A68T|PODNL1_uc010xnj.1_Missense_Mutation_p.A148T|PODNL1_uc002mxs.2_Intron NM_024825 NP_079101 Q6PEZ8 PONL1_HUMAN podocan-like 1 isoform 1 150 Leu-rich.|LRR 4. proteinaceous extracellular matrix central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) GCCAGATCCGCGACACGGAGG 0.667 FCGBP 8857 broad.mit.edu 37 19 40395990 40395990 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr19:40395990G>A uc002omp.3 - 15 7415 c.7407C>T c.(7405-7407)TTC>TTT p.F2469F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2469 VWFD 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCATGAAGTCGAAGCGGCGGC 0.672 PRR12 57479 broad.mit.edu 37 19 50105110 50105110 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr19:50105110G>A uc002poo.3 + 6 4708 c.4708G>A c.(4708-4710)GGA>AGA p.G1570R NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 749 DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CGAGAGTGGCGGAGAGGGCAT 0.647 MYT1L 23040 broad.mit.edu 37 2 1926965 1926965 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr2:1926965G>A uc002qxe.2 - 10 1403 c.576C>T c.(574-576)GAC>GAT p.D192D MYT1L_uc002qxd.2_Silent_p.D192D|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 192 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGTCATATTCGTCATTATTGT 0.368 XDH 7498 broad.mit.edu 37 2 31620554 31620554 + Missense_Mutation SNP C A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr2:31620554C>A uc002rnv.1 - 6 554 c.475G>T c.(475-477)GGC>TGC p.G159C NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 159 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTCCGGAAGCCCTGGAGGATG 0.552 TMPRSS6 164656 broad.mit.edu 37 22 37482392 37482392 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr22:37482392C>T uc003aqs.1 - 8 1045 c.931G>A c.(931-933)GTC>ATC p.V311I TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 311 CUB 1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 TTCTTCCAGACGACCGCCATG 0.667 CHL1 10752 broad.mit.edu 37 3 440026 440026 + Missense_Mutation SNP A T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr3:440026A>T uc003bou.2 + 24 3434 c.3163A>T c.(3163-3165)AAT>TAT p.N1055Y CHL1_uc003bot.2_Missense_Mutation_p.N1071Y|CHL1_uc003bow.1_Missense_Mutation_p.N1055Y|CHL1_uc011asi.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1055 Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGGGGCGATAATGATAGCAT 0.383 FGD5 152273 broad.mit.edu 37 3 14861539 14861539 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr3:14861539G>A uc003bzc.2 + 1 1071 c.961G>A c.(961-963)GCC>ACC p.A321T FGD5_uc011avk.1_Missense_Mutation_p.A321T NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 321 Glu-rich. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GGATGAGTCCGCCGAGGAGAG 0.552 VILL 50853 broad.mit.edu 37 3 38035909 38035909 + Missense_Mutation SNP A G G TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr3:38035909A>G uc003chj.2 + 4 579 c.293A>G c.(292-294)CAG>CGG p.Q98R VILL_uc003chk.1_Missense_Mutation_p.Q98R|VILL_uc003chl.2_Missense_Mutation_p.Q98R|VILL_uc010hgu.2_5'UTR NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 98 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CGCGAGGCGCAGGGCCACGAG 0.721 NPRL2 10641 broad.mit.edu 37 3 50385755 50385755 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr3:50385755G>A uc003daj.1 - 8 1210 c.807C>T c.(805-807)ACC>ACT p.T269T ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Silent_p.T149T|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank NM_006545 NP_006536 Q8WTW4 NPRL2_HUMAN tumor suppressor candidate 4 269 negative regulation of kinase activity protein binding|protein kinase activity lung(1) 1 TACCTTGCTTGGTCACGTAGG 0.577 STXBP5L 9515 broad.mit.edu 37 3 120833881 120833881 + Missense_Mutation SNP A G G TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr3:120833881A>G uc003eec.3 + 6 720 c.580A>G c.(580-582)ATC>GTC p.I194V STXBP5L_uc011bji.1_Missense_Mutation_p.I194V NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 194 WD 3. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TGGATATGTTATCATGTGGAA 0.318 SI 6476 broad.mit.edu 37 3 164730787 164730787 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr3:164730787G>A uc003fei.2 - 34 4105 c.4043C>T c.(4042-4044)ACG>ATG p.T1348M NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1348 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCATCTTCCGTTAGAGTTTT 0.323 HNSCC(35;0.089) DGKQ 1609 broad.mit.edu 37 4 956666 956666 + Silent SNP C A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr4:956666C>A uc003gbw.2 - 17 2003 c.1929G>T c.(1927-1929)GTG>GTT p.V643V DGKQ_uc010ibn.2_Silent_p.V630V NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 643 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGCCACCACACACCAGCACCC 0.682 PRKG2 5593 broad.mit.edu 37 4 82056416 82056416 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr4:82056416C>T uc003hmh.2 - 13 1683 c.1669G>A c.(1669-1671)GTT>ATT p.V557I PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 557 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 ACACAAGCAACGCAGAATTTG 0.413 FAT4 79633 broad.mit.edu 37 4 126372061 126372061 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr4:126372061G>A uc003ifj.3 + 9 9890 c.9890G>A c.(9889-9891)CGT>CAT p.R3297H FAT4_uc011cgp.1_Missense_Mutation_p.R1595H|FAT4_uc003ifi.1_Missense_Mutation_p.R775H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3297 Cadherin 31.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TATGTGCCCCGTTTTGTTTCC 0.403 DCHS2 54798 broad.mit.edu 37 4 155241880 155241880 + Silent SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr4:155241880C>T uc003inw.2 - 14 3306 c.3306G>A c.(3304-3306)ACG>ACA p.T1102T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1102 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAAATGGATTCGTGCCAGGGT 0.453 KIAA1430 57587 broad.mit.edu 37 4 186111564 186111564 + Missense_Mutation SNP T C C TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr4:186111564T>C uc003ixf.3 - 2 934 c.787A>G c.(787-789)ATT>GTT p.I263V KIAA1430_uc003ixg.2_Missense_Mutation_p.I263V NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 263 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) AGAGGGCTAATGTCTGGAGTT 0.398 TUBB4Q 56604 broad.mit.edu 37 4 190904404 190904404 + Missense_Mutation SNP T C C TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr4:190904404T>C uc011clg.1 - 4 579 c.576A>G c.(574-576)ATA>ATG p.I192M NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 193 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) CTGCGTTTTCTATGAGCTGGT 0.507 CDH18 1016 broad.mit.edu 37 5 19544032 19544032 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr5:19544032G>A uc003jgc.2 - 8 1713 c.1336C>T c.(1336-1338)CTC>TTC p.L446F CDH18_uc003jgd.2_Missense_Mutation_p.L446F|CDH18_uc011cnm.1_Missense_Mutation_p.L446F NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 446 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCTCTGTCGAGAACCTTTGTA 0.363 PIK3R1 5295 broad.mit.edu 37 5 67591247 67591249 + Splice_Site DEL GGT - - TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr5:67591247_67591249delGGT uc003jva.2 + 14 2306 c.1746_splice c.e14-1 p.M582_splice PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.M582_D605>I(4)|p.?(3)|p.Y580fs*1(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTGTTTTTCAGGTGGTTGACTCA 0.365 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) CDK7 1022 broad.mit.edu 37 5 68555711 68555711 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr5:68555711G>A uc003jvs.3 + 7 656 c.475G>A c.(475-477)GCC>ACC p.A159T CDK7_uc003jvt.3_Missense_Mutation_p.A118T|CDK7_uc003jvu.3_Missense_Mutation_p.A66T NM_001799 NP_001790 P50613 CDK7_HUMAN cyclin-dependent kinase 7 159 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity lung(1) 1 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) TTTTGGCCTGGCCAAATCTTT 0.388 NER FAM13B 51306 broad.mit.edu 37 5 137275998 137275998 + Silent SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr5:137275998C>T uc003lbz.2 - 23 3198 c.2664G>A c.(2662-2664)GAG>GAA p.E888E FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 888 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 ACTCTCTGTACTCCTCAAGCA 0.353 PREP 5550 broad.mit.edu 37 6 105800946 105800946 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr6:105800946C>T uc003prc.2 - 7 927 c.724G>A c.(724-726)GAT>AAT p.D242N NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 242 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) CGGCCATCATCAGATAACTAA 0.353 SLC29A4 222962 broad.mit.edu 37 7 5340251 5340251 + Silent SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr7:5340251C>T uc003sod.2 + 10 1569 c.1408C>T c.(1408-1410)CTG>TTG p.L470L SLC29A4_uc003soc.2_Silent_p.L470L|SLC29A4_uc003soe.2_Silent_p.L456L|SLC29A4_uc010ksw.2_Intron NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 470 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GCCCATGATCCTGGCGGCAGG 0.706 DNAH11 8701 broad.mit.edu 37 7 21641054 21641054 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr7:21641054G>A uc003svc.2 + 18 3497 c.3466G>A c.(3466-3468)GGA>AGA p.G1156R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1156 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GACAGATTCCGGACTTCAGAG 0.343 Kartagener_syndrome EGFR 1956 broad.mit.edu 37 7 55220278 55220278 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr7:55220278G>A uc003tqk.2 + 6 914 c.668G>A c.(667-669)TGC>TAC p.C223Y EGFR_uc003tqh.2_Missense_Mutation_p.C223Y|EGFR_uc003tqi.2_Missense_Mutation_p.C223Y|EGFR_uc003tqj.2_Missense_Mutation_p.C223Y|EGFR_uc010kzg.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.1_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 223 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCCGGGCGCTGCCGTGGCAAG 0.602 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55238870 55238870 + Missense_Mutation SNP G T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr7:55238870G>T uc003tqk.2 + 16 2129 c.1883G>T c.(1882-1884)TGC>TTC p.C628F EGFR_uc010kzg.1_Missense_Mutation_p.C583F|EGFR_uc011kco.1_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 628 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCCTACAGATGCACTGGGCCA 0.393 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) POM121C 100101267 broad.mit.edu 37 7 75068439 75068439 + Silent SNP G T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr7:75068439G>T uc010lde.1 - 4 1017 c.1017C>A c.(1015-1017)CCC>CCA p.P339P POM121C_uc003udk.3_Silent_p.P97P A8CG34 P121C_HUMAN Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds. 339 Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential).|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 CAAAAGAAGCGGGGACTCCAC 0.468 MYOM2 9172 broad.mit.edu 37 8 2005570 2005570 + Missense_Mutation SNP G A A rs147661043 TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr8:2005570G>A uc003wpx.3 + 4 506 c.368G>A c.(367-369)CGC>CAC p.R123H MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 123 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCCCAGGCCCGCGACAAGCTG 0.617 CHRNB3 1142 broad.mit.edu 37 8 42587374 42587374 + Silent SNP C A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr8:42587374C>A uc003xpi.1 + 5 1052 c.924C>A c.(922-924)ACC>ACA p.T308T NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 308 Helical; (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTTTTGTGACCCTGTCCATCA 0.448 KCNV1 27012 broad.mit.edu 37 8 110984560 110984560 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr8:110984560G>A uc003ynr.3 - 2 1260 c.918C>T c.(916-918)AAC>AAT p.N306N KCNV1_uc010mcw.2_Silent_p.N306N NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 306 Extracellular (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGCGCCCCACGTTCTCCAGCT 0.532 GCNT1 2650 broad.mit.edu 37 9 79117571 79117571 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chr9:79117571G>A uc010mpf.2 + 3 615 c.274G>A c.(274-276)GAC>AAC p.D92N GCNT1_uc010mpg.2_Missense_Mutation_p.D92N|GCNT1_uc010mph.2_Missense_Mutation_p.D92N|GCNT1_uc004akf.3_Missense_Mutation_p.D92N|GCNT1_uc010mpi.2_Missense_Mutation_p.D92N|GCNT1_uc004akh.3_Missense_Mutation_p.D92N NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 92 Lumenal (Potential).|Stem region (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 GACACCTGACGACTATATAAA 0.393 FAM47B 170062 broad.mit.edu 37 X 34962542 34962542 + Missense_Mutation SNP C T T TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:34962542C>T uc004ddi.1 + 1 1612 c.1594C>T c.(1594-1596)CGC>TGC p.R532C NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 532 ovary(3)|breast(1) 4 GGACAGGAGACGCCGGGCGGC 0.498 WNK3 65267 broad.mit.edu 37 X 54319681 54319681 + Silent SNP T C C TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:54319681T>C uc004dtd.1 - 9 2212 c.1773A>G c.(1771-1773)TCA>TCG p.S591S WNK3_uc004dtc.1_Silent_p.S591S NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 591 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TCGTTTGATTTGAGGAATAGG 0.398 LAS1L 81887 broad.mit.edu 37 X 64744052 64744052 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:64744052G>A uc004dwa.1 - 10 1256 c.1184C>T c.(1183-1185)ACG>ATG p.T395M LAS1L_uc004dwc.1_Missense_Mutation_p.T378M|LAS1L_uc004dwd.1_Missense_Mutation_p.T336M NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 395 MLL1 complex|nucleolus protein binding p.T395T(1) ovary(3)|large_intestine(1) 4 TAGGGCCTGCGTGAAGTTCTG 0.567 BTK 695 broad.mit.edu 37 X 100611220 100611220 + Silent SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:100611220G>A uc004ehg.2 - 15 1579 c.1386C>T c.(1384-1386)GGC>GGT p.G462G BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.G32G|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Silent_p.G496G|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Silent_p.G462G NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 462 Protein kinase. G -> D (in XLA).|G -> V (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TGGTGCAGACGCCATACAACT 0.522 Agammaglobulinemia_X-linked SOX3 6658 broad.mit.edu 37 X 139586734 139586734 + Missense_Mutation SNP C G G TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:139586734C>G uc004fbd.1 - 1 492 c.492G>C c.(490-492)ATG>ATC p.M164I NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 164 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) CAGAATTGTGCATCTTGGGGT 0.622 PNMA5 114824 broad.mit.edu 37 X 152159506 152159506 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:152159506G>A uc010ntw.2 - 3 976 c.637C>T c.(637-639)CGG>TGG p.R213W PNMA5_uc004fha.3_Missense_Mutation_p.R213W|PNMA5_uc010ntx.2_Missense_Mutation_p.R213W|PNMA5_uc004fgy.3_Missense_Mutation_p.R213W NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 213 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGCACCCGCATGATTGAC 0.527 F8 2157 broad.mit.edu 37 X 154185438 154185438 + Missense_Mutation SNP G A A TCGA-26-5139-01A-01D-1486-08 TCGA-26-5139-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 8199001b-a3c9-47e1-97cf-943fa8030f46 0be951d5-b639-4125-996c-c1245d7750ee g.chrX:154185438G>A uc004fmt.2 - 11 1717 c.1546C>T c.(1546-1548)CAT>TAT p.H516Y NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 516 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCTTCAAATGTTTTACACCT 0.378