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 PLCH2 9651 broad.mit.edu 37 1 2415915 2415915 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:2415915C>T uc001aji.1 + 5 948 c.674C>T c.(673-675)ACG>ATG p.T225M PLCH2_uc010nyz.1_Missense_Mutation_p.T13M|PLCH2_uc009vle.1_Missense_Mutation_p.T13M|PLCH2_uc001ajj.1_Missense_Mutation_p.T13M|PLCH2_uc001ajk.1_Missense_Mutation_p.T13M NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 225 EF-hand 2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CACCAAGGGACGCTGGGTTTT 0.592000 GPATCH3 63906 broad.mit.edu 37 1 27223867 27223867 + Silent SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:27223867A>G uc001bne.2 - 2 830 c.801T>C c.(799-801)GAT>GAC p.D267D GPATCH3_uc009vsp.1_Silent_p.D78D NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 267 Glu-rich. intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) TGGCTGGTATATCTGCCAGGT 0.517000 PTPRU 10076 broad.mit.edu 37 1 29644433 29644433 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:29644433C>T uc001bru.2 + 26 3827 c.3717C>T c.(3715-3717)GAC>GAT p.D1239D PTPRU_uc001brv.2_Silent_p.D1235D|PTPRU_uc001brw.2_Silent_p.D1229D|PTPRU_uc009vtq.2_Silent_p.D1235D|PTPRU_uc009vtr.2_Silent_p.D1226D|PTPRU_uc001brx.2_5'Flank NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1239 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCCTGACTGACGTGAGAGCTT 0.622000 DIRAS3 9077 broad.mit.edu 37 1 68512741 68512741 + Nonsense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:68512741G>T uc001ded.2 - 2 535 c.240C>A c.(238-240)TGC>TGA p.C80* uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 80 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 CACCGTGGCTGCAGCCCAGCA 0.612000 WDR47 22911 broad.mit.edu 37 1 109514146 109514146 + Missense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:109514146T>A uc001dwj.2 - 15 3042 c.2666A>T c.(2665-2667)GAC>GTC p.D889V WDR47_uc001dwl.2_Missense_Mutation_p.D897V|WDR47_uc001dwi.2_Missense_Mutation_p.D890V|WDR47_uc010ovf.1_Missense_Mutation_p.D814V NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 889 WD 7. ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) AATCACTTTGTCCTTGTGCTC 0.448000 LCE2A 353139 broad.mit.edu 37 1 152671534 152671534 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:152671534G>A uc001faj.2 + 2 208 c.157G>A c.(157-159)GGC>AGC p.G53S NM_178428 NP_848515 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 53 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGCTGCTGCGGCTCCAGCTC 0.692000 TRIM46 80128 broad.mit.edu 37 1 155154567 155154567 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:155154567G>A uc001fhs.1 + 9 1911 c.1828G>A c.(1828-1830)GGG>AGG p.G610R RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.G484R|TRIM46_uc001fhu.1_Missense_Mutation_p.G587R|TRIM46_uc009wpg.1_Missense_Mutation_p.G597R|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 610 B30.2/SPRY. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGTGGGCGTCGGGCTGGAGAG 0.647000 KCNT2 343450 broad.mit.edu 37 1 196300297 196300297 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:196300297T>C uc001gtd.1 - 18 2152 c.2092A>G c.(2092-2094)AGA>GGA p.R698G KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R648G|KCNT2_uc001gtf.1_Missense_Mutation_p.R698G|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R698G|KCNT2_uc001gth.1_Missense_Mutation_p.R219G NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 698 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTGTCTAATCTTAAGCAGCAA 0.299000 ASPM 259266 broad.mit.edu 37 1 197072455 197072455 + Missense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:197072455T>A uc001gtu.2 - 18 6183 c.5926A>T c.(5926-5928)ATC>TTC p.I1976F ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1976 IQ 13.|IQ 12. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GACTGTATGATGATAGCACAT 0.378000 CRB1 23418 broad.mit.edu 37 1 197390846 197390846 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:197390846T>G uc001gtz.2 + 6 2023 c.1888T>G c.(1888-1890)TTC>GTC p.F630V CRB1_uc010poz.1_Missense_Mutation_p.F561V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F518V|CRB1_uc010ppb.1_Missense_Mutation_p.F630V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F111V|CRB1_uc001gub.1_Missense_Mutation_p.F279V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 630 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TCTGCTTAACTTCTATAATAT 0.418000 LGTN 1939 broad.mit.edu 37 1 206772957 206772957 + Silent SNP A A T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:206772957A>T uc001heh.2 - 10 1271 c.1062T>A c.(1060-1062)TCT>TCA p.S354S LGTN_uc009xbw.2_Silent_p.S230S NM_006893 NP_008824 P41214 EIF2D_HUMAN ligatin 354 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GTATGACGAAAGATGTAATCC 0.532000 OBSCN 84033 broad.mit.edu 37 1 228404777 228404777 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:228404777C>T uc009xez.1 + 8 2485 c.2441C>T c.(2440-2442)CCG>CTG p.P814L OBSCN_uc001hsn.2_Missense_Mutation_p.P814L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 814 Ig-like 8. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCTGGGGGCCCGGCGCAGTTT 0.657000 C1orf101 257044 broad.mit.edu 37 1 244735822 244735822 + Nonsense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr1:244735822T>A uc001iam.2 + 11 1757 c.1698T>A c.(1696-1698)TAT>TAA p.Y566* C1orf101_uc001iak.1_Nonsense_Mutation_p.Y120*|C1orf101_uc001ial.2_Nonsense_Mutation_p.Y566*|C1orf101_uc010pym.1_Nonsense_Mutation_p.Y415*|C1orf101_uc010pyn.1_Nonsense_Mutation_p.Y499* NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 566 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TACAGGACTATCCCTTACATC 0.353000 PTCHD3 374308 broad.mit.edu 37 10 27687305 27687305 + Nonsense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr10:27687305G>C uc001itu.2 - 4 2340 c.2222C>G c.(2221-2223)TCA>TGA p.S741* NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 741 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GATTTCATTTGATGAAGAAAT 0.313000 C10orf71 118461 broad.mit.edu 37 10 50531052 50531052 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr10:50531052G>T uc010qgp.1 + 3 801 c.462G>T c.(460-462)GAG>GAT p.E154D NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 154 0 ACAGGACCGAGAGCCAACGTT 0.512000 KIAA0913 23053 broad.mit.edu 37 10 75552483 75552483 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr10:75552483A>G uc009xrl.2 + 10 2218 c.2186A>G c.(2185-2187)TAC>TGC p.Y729C KIAA0913_uc001jve.2_Missense_Mutation_p.Y729C|KIAA0913_uc001jvf.2_Missense_Mutation_p.Y729C|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.Y152C|KIAA0913_uc010qkr.1_Missense_Mutation_p.Y152C|KIAA0913_uc001jvj.2_Missense_Mutation_p.Y152C NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 729 zinc ion binding breast(1) 1 Prostate(51;0.0112) GATGATGACTACCAGGCGTAC 0.602000 PLCE1 51196 broad.mit.edu 37 10 96025643 96025643 + Silent SNP C C T rs145456568 by1000genomes TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr10:96025643C>T uc001kjk.2 + 16 4843 c.4209C>T c.(4207-4209)ATC>ATT p.I1403I PLCE1_uc010qnx.1_Silent_p.I1387I|PLCE1_uc001kjm.2_Silent_p.I1095I NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1403 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ACTATTACATCGAATCTTCGC 0.443000 SORCS3 22986 broad.mit.edu 37 10 106959784 106959784 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr10:106959784C>T uc001kyi.1 + 15 2264 c.2037C>T c.(2035-2037)TCC>TCT p.S679S SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 679 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCCTCCGCTCCGAATGGCAAT 0.502000 FGFR2 2263 broad.mit.edu 37 10 123274680 123274680 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr10:123274680G>C uc010qtk.1 - 9 1885 c.1238C>G c.(1237-1239)CCG>CGG p.P413R FGFR2_uc010qtg.1_Missense_Mutation_p.P301R|FGFR2_uc010qth.1_Missense_Mutation_p.P298R|FGFR2_uc010qti.1_Missense_Mutation_p.P324R|FGFR2_uc010qtj.1_Missense_Mutation_p.P414R|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.P298R|FGFR2_uc001lfl.3_Missense_Mutation_p.P414R|FGFR2_uc001lfm.2_Missense_Mutation_p.P325R|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.P23R NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 413 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GTGCACAGCCGGCTGGCTGCT 0.493000 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome ATHL1 80162 broad.mit.edu 37 11 290921 290921 + Silent SNP C C G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:290921C>G uc010qvu.1 + 4 829 c.714C>G c.(712-714)CTC>CTG p.L238L ATHL1_uc001lor.3_Silent_p.L61L|ATHL1_uc001los.1_Silent_p.L238L|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 238 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GGGCCCAGCTCTGGGTAGAAT 0.692000 MUC5B 727897 broad.mit.edu 37 11 1261524 1261524 + Missense_Mutation SNP A A T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:1261524A>T uc009ycr.1 + 46 6094 c.5968A>T c.(5968-5970)AGG>TGG p.R1990W MUC5B_uc001ltb.2_Missense_Mutation_p.R1300W|MUC5B_uc001lta.2_Missense_Mutation_p.R965W NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1297 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCATCATCAGGAAGGCTGT 0.597000 COPB1 1315 broad.mit.edu 37 11 14515257 14515257 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:14515257C>T uc001mli.2 - 4 729 c.422G>A c.(421-423)CGT>CAT p.R141H COPB1_uc001mlg.2_Missense_Mutation_p.R141H|COPB1_uc001mlh.2_Missense_Mutation_p.R141H|PSMA1_uc010rcp.1_RNA NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 141 HEAT 2. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 CAAACATGCACGAATAGCTGG 0.368000 PDE3B 5140 broad.mit.edu 37 11 14865418 14865418 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:14865418C>T uc001mln.2 + 12 2719 c.2366C>T c.(2365-2367)TCG>TTG p.S789L PDE3B_uc010rcr.1_Missense_Mutation_p.S738L NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 789 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TATATTTCTTCGAAGAGCTGC 0.393000 OR5L2 26338 broad.mit.edu 37 11 55595391 55595391 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:55595391A>G uc001nhy.1 + 1 697 c.697A>G c.(697-699)AGC>GGC p.S233G NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CTCTGCAGAGAGCAGGCACAA 0.493000 HNSCC(27;0.073) OR5L2 26338 broad.mit.edu 37 11 55595405 55595405 + Silent SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:55595405T>C uc001nhy.1 + 1 711 c.711T>C c.(709-711)GCT>GCC p.A237A NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GGCACAAAGCTTTCTCCACCT 0.483000 HNSCC(27;0.073) OR5T1 390155 broad.mit.edu 37 11 56043937 56043937 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:56043937A>C uc001nio.1 + 1 823 c.823A>C c.(823-825)AGT>CGT p.S275R NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TGTGAGACCAAGTTCCAGCTA 0.423000 OR5R1 219479 broad.mit.edu 37 11 56185581 56185581 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:56185581A>C uc010rji.1 - 1 128 c.128T>G c.(127-129)CTT>CGT p.L43R NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AATCAACCCAAGATTGCCCAG 0.453000 SLC22A12 116085 broad.mit.edu 37 11 64359339 64359339 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:64359339C>T uc001oam.1 + 1 1058 c.311C>T c.(310-312)ACG>ATG p.T104M SLC22A12_uc009ypr.1_Missense_Mutation_p.T104M|SLC22A12_uc001oal.1_Translation_Start_Site|SLC22A12_uc009yps.1_Missense_Mutation_p.T104M|SLC22A12_uc001oan.1_Missense_Mutation_p.T104M|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 104 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CCCAATGCCACGGCCACCAGC 0.667000 FAT3 120114 broad.mit.edu 37 11 92086909 92086909 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:92086909G>A uc001pdj.3 + 1 1648 c.1631G>A c.(1630-1632)AGA>AAA p.R544K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 544 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAAATTTACAGATTCATTGTT 0.413000 TCGA Ovarian(4;0.039) MED17 9440 broad.mit.edu 37 11 93527121 93527121 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr11:93527121C>T uc001pem.3 + 5 1054 c.779C>T c.(778-780)TCA>TTA p.S260L NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 260 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATATAGGTTTCAATACAAAAA 0.328000 RASSF8 11228 broad.mit.edu 37 12 26217702 26217702 + Silent SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:26217702G>T uc001rgx.2 + 3 596 c.375G>T c.(373-375)CCG>CCT p.P125P RASSF8_uc001rgy.2_Silent_p.P125P|RASSF8_uc001rgz.2_Silent_p.P125P|RASSF8_uc009zjd.1_Silent_p.P125P|RASSF8_uc009zje.1_Silent_p.P125P NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 125 signal transduction 0 Colorectal(261;0.0847) GGAGGGAACCGAAAAGGAAAT 0.413000 FAR2 55711 broad.mit.edu 37 12 29423406 29423406 + Nonsense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:29423406T>G uc001ris.3 + 2 171 c.24T>G c.(22-24)TAT>TAG p.Y8* FAR2_uc001rit.2_Nonsense_Mutation_p.Y8*|FAR2_uc009zjm.2_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 8 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 CAGCTTTCTATGGCGGCAAGT 0.458000 CNTN1 1272 broad.mit.edu 37 12 41327301 41327301 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:41327301T>C uc001rmm.1 + 8 855 c.742T>C c.(742-744)TTC>CTC p.F248L CNTN1_uc009zjy.1_Missense_Mutation_p.F248L|CNTN1_uc001rmn.1_Missense_Mutation_p.F237L|CNTN1_uc001rmo.2_Missense_Mutation_p.F248L NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 248 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGTAGTTCAGTTCAAGGATGT 0.289000 SLC38A1 81539 broad.mit.edu 37 12 46598091 46598091 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:46598091T>G uc001rpa.2 - 11 1073 c.815A>C c.(814-816)AAT>ACT p.N272T SLC38A1_uc001rpb.2_Missense_Mutation_p.N272T|SLC38A1_uc001rpc.2_Missense_Mutation_p.N272T|SLC38A1_uc001rpd.2_Missense_Mutation_p.N272T|SLC38A1_uc001rpe.2_Missense_Mutation_p.N272T|SLC38A1_uc010slh.1_Missense_Mutation_p.N245T|SLC38A1_uc009zkj.1_Missense_Mutation_p.N272T NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 272 Extracellular (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TACCTTTGAATTGAAGGTAAC 0.333000 ESPL1 9700 broad.mit.edu 37 12 53663425 53663425 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:53663425G>A uc001sck.2 + 3 790 c.699G>A c.(697-699)GTG>GTA p.V233V ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 233 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 GAGCCTTGGTGGGTGAGAGAG 0.567000 BAZ2A 11176 broad.mit.edu 37 12 57005592 57005592 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:57005592T>C uc001slq.1 - 6 1774 c.1580A>G c.(1579-1581)GAG>GGG p.E527G BAZ2A_uc001slp.1_Missense_Mutation_p.E525G|BAZ2A_uc009zow.1_Missense_Mutation_p.E495G NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 527 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TCCAGTGATCTCTTCCACGTC 0.488000 PLXNC1 10154 broad.mit.edu 37 12 94645229 94645229 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:94645229G>A uc001tdc.2 + 15 3055 c.2806G>A c.(2806-2808)GTC>ATC p.V936I NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 936 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GGAGCTCTACGTCGAGCAGGA 0.428000 CCDC38 120935 broad.mit.edu 37 12 96330276 96330276 + Silent SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr12:96330276A>G uc001tek.1 - 2 246 c.12T>C c.(10-12)AAT>AAC p.N4N NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 4 skin(1) 1 TTGGCAATAAATTTGAGGACA 0.343000 C13orf1 57213 broad.mit.edu 37 13 50502102 50502102 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr13:50502102T>C uc001vdl.2 - 3 605 c.343A>G c.(343-345)AAA>GAA p.K115E C13orf1_uc001vdm.2_Missense_Mutation_p.K76E|C13orf1_uc010tgm.1_Intron|C13orf1_uc010adj.2_Missense_Mutation_p.K115E NM_020456 NP_065189 Q5W111 SPRY7_HUMAN chromosome 13 open reading frame 1 isoform 1 115 B30.2/SPRY. 0 Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117) GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208) AGCCTATTTTTCTCTTCATTG 0.448000 TBC1D4 9882 broad.mit.edu 37 13 75898422 75898422 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr13:75898422A>G uc001vjl.1 - 11 2496 c.2149T>C c.(2149-2151)TTT>CTT p.F717L TBC1D4_uc010aer.2_Missense_Mutation_p.F717L|TBC1D4_uc010aes.2_Intron NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 717 Ser-rich. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TTCTGGTAAAAGCTTTTCAGG 0.443000 SLITRK5 26050 broad.mit.edu 37 13 88330374 88330374 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr13:88330374C>A uc001vln.2 + 2 2950 c.2731C>A c.(2731-2733)CTA>ATA p.L911I SLITRK5_uc010tic.1_Missense_Mutation_p.L670I NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 911 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGACAGCAGGCTACGGGAACC 0.562000 TXNDC16 57544 broad.mit.edu 37 14 52981665 52981665 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr14:52981665C>T uc001wzs.2 - 8 987 c.538G>A c.(538-540)GCT>ACT p.A180T TXNDC16_uc010tqu.1_Missense_Mutation_p.A175T|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 180 A -> G (in Ref. 1; BAA92582). cell redox homeostasis extracellular region 0 Breast(41;0.0716) TACACAAAAGCGGCTTCCATG 0.358000 AKAP5 9495 broad.mit.edu 37 14 64935787 64935787 + Silent SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr14:64935787G>C uc001xhd.3 + 2 1053 c.675G>C c.(673-675)ACG>ACC p.T225T ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 225 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) CTATTCAAACGGGAACTCTAA 0.403000 ADCK1 57143 broad.mit.edu 37 14 78353526 78353526 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr14:78353526G>A uc001xui.2 + 5 615 c.516G>A c.(514-516)ACG>ACA p.T172T ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Silent_p.T104T|ADCK1_uc001xuk.1_Silent_p.T46T NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 179 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATGGGCGGACGGTGGCCGTGA 0.612000 MEIS2 4212 broad.mit.edu 37 15 37184392 37184392 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr15:37184392C>T uc001zjr.2 - 12 2453 c.1416G>A c.(1414-1416)ATG>ATA p.M472I MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.M452I|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Missense_Mutation_p.M465I|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.M465I|MEIS2_uc001zjj.2_Missense_Mutation_p.M168I|MEIS2_uc001zjk.2_Missense_Mutation_p.M161I NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 472 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CATGAATGTCCATAACCTGTC 0.443000 ISL2 64843 broad.mit.edu 37 15 76632641 76632641 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr15:76632641C>T uc002bbw.1 + 4 614 c.536C>T c.(535-537)GCG>GTG p.A179V NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGGCAGCCCGCGTTGCGCCCG 0.716000 SGK269 79834 broad.mit.edu 37 15 77473300 77473300 + Silent SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr15:77473300A>G uc002bcm.2 - 3 1277 c.969T>C c.(967-969)AAT>AAC p.N323N SGK269_uc002bcn.2_Silent_p.N323N NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 323 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) AGACCACAGAATTTTCCTCAT 0.433000 TPSG1 25823 broad.mit.edu 37 16 1272676 1272676 + Missense_Mutation SNP C C T rs137977482 byFrequency TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:1272676C>T uc002ckw.2 - 4 489 c.487G>A c.(487-489)GGC>AGC p.G163S NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN transmembrane tryptase preproprotein 163 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TAGCCCCAGCCGGTCACCCAG 0.677000 TELO2 9894 broad.mit.edu 37 16 1549288 1549288 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:1549288A>C uc002cly.2 + 6 1178 c.887A>C c.(886-888)CAG>CCG p.Q296P TELO2_uc010uvg.1_Missense_Mutation_p.Q296P NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 296 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) AAGAAGGCCCAGTTTGTGATG 0.602000 USP7 7874 broad.mit.edu 37 16 9017167 9017167 + Silent SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:9017167T>C uc002czl.2 - 3 487 c.288A>G c.(286-288)CCA>CCG p.P96P USP7_uc010uyk.1_5'UTR|USP7_uc010uyj.1_5'UTR|USP7_uc002czk.2_Silent_p.P80P|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 96 Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TAATCTTCCATGGCAGATTTC 0.502000 C16orf75 116028 broad.mit.edu 37 16 11444592 11444592 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:11444592T>C uc002daw.1 + 2 407 c.389T>C c.(388-390)ATC>ACC p.I130T C16orf75_uc002daq.1_RNA NM_152308 NP_689521 Q96E14 RMI2_HUMAN RecQ-mediated genome instability protein 2 130 DNA replication nucleus DNA binding 0 GATAATCCCATCCATGAAAGT 0.448000 T CIITA PMBL|Hodgkin Lymphona| ATXN2L 11273 broad.mit.edu 37 16 28837136 28837136 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:28837136G>A uc002drc.2 + 4 607 c.439G>A c.(439-441)GGT>AGT p.G147S uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G147S|ATXN2L_uc002drb.2_Missense_Mutation_p.G147S|ATXN2L_uc002dqy.2_Missense_Mutation_p.G147S|ATXN2L_uc002dra.2_Missense_Mutation_p.G147S|ATXN2L_uc002dqz.2_Missense_Mutation_p.G147S|ATXN2L_uc010vdb.1_Missense_Mutation_p.G147S|ATXN2L_uc002dre.2_Missense_Mutation_p.G147S|ATXN2L_uc002drf.2_5'UTR NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 147 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CACTTATGAGGGTATCTTCAA 0.403000 ATXN2L 11273 broad.mit.edu 37 16 28844195 28844195 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:28844195G>A uc002drc.2 + 13 1814 c.1646G>A c.(1645-1647)GGG>GAG p.G549E uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G525E|ATXN2L_uc002drb.2_Missense_Mutation_p.G549E|ATXN2L_uc002dqy.2_Missense_Mutation_p.G549E|ATXN2L_uc002dra.2_Missense_Mutation_p.G549E|ATXN2L_uc002dqz.2_Missense_Mutation_p.G549E|ATXN2L_uc010vdb.1_Missense_Mutation_p.G555E|ATXN2L_uc002dre.2_Missense_Mutation_p.G549E|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 549 membrane upper_aerodigestive_tract(1)|ovary(1) 2 AGAAAGTTTGGGGCCCAGTTT 0.423000 PRR14 78994 broad.mit.edu 37 16 30666245 30666245 + Missense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:30666245T>A uc002dyy.2 + 8 1212 c.954T>A c.(952-954)AAT>AAA p.N318K PRR14_uc002dyz.2_Missense_Mutation_p.N163K|PRR14_uc002dza.2_Missense_Mutation_p.N318K|PRR14_uc002dzb.1_Missense_Mutation_p.N132K NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 318 Pro-rich. 0 Colorectal(24;0.103) AGGACCACAATACCCCAGCAC 0.662000 ADCY7 113 broad.mit.edu 37 16 50345962 50345962 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr16:50345962C>T uc002egd.1 + 20 2732 c.2464C>T c.(2464-2466)CGC>TGC p.R822C NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 822 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CTATTACTGCCGCTTGGACTG 0.552000 TP53 7157 broad.mit.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A rs28934571 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:7577534C>A uc002gim.2 - 7 941 c.747G>T c.(745-747)AGG>AGT p.R249S TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(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) TGAGGATGGGCCTCCGGTTCA 0.572000 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) WDR16 146845 broad.mit.edu 37 17 9503482 9503482 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:9503482G>A uc002gly.2 + 6 804 c.735G>A c.(733-735)GCG>GCA p.A245A WDR16_uc002glz.2_Silent_p.A177A|WDR16_uc010coc.2_Silent_p.A255A NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 245 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TTGGGCCTGCGAAGGACAAAT 0.423000 FAM83G 644815 broad.mit.edu 37 17 18907189 18907189 + Nonsense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:18907189G>A uc002guw.2 - 2 333 c.166C>T c.(166-168)CGA>TGA p.R56* SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 56 ovary(1)|central_nervous_system(1) 2 AGGAAGTCTCGGATGTTCTCC 0.677000 LASP1 3927 broad.mit.edu 37 17 37075007 37075007 + Silent SNP G G A rs140055048 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:37075007G>A uc002hra.2 + 7 1093 c.762G>A c.(760-762)CCG>CCA p.P254P LASP1_uc010cvq.2_Missense_Mutation_p.R132Q|LASP1_uc010wdz.1_Silent_p.P198P NM_006148 NP_006139 Q14847 LASP1_HUMAN LIM and SH3 protein 1 254 SH3. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding lung(1) 1 GGATGCTGCCGGCCAACTACG 0.642000 T MLL AML MED1 5469 broad.mit.edu 37 17 37565409 37565409 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:37565409G>T uc002hrv.3 - 17 3277 c.3065C>A c.(3064-3066)CCA>CAA p.P1022Q MED1_uc010wee.1_Missense_Mutation_p.P850Q|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1022 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ACTATGAGATGGAGACTTTCC 0.507000 HNSCC(31;0.082) KRTAP4-1 85285 broad.mit.edu 37 17 39340975 39340975 + Nonsense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:39340975G>T uc002hwe.3 - 1 173 c.132C>A c.(130-132)TGC>TGA p.C44* KRTAP4-1_uc010cxm.1_RNA NM_033060 NP_149049 Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 44 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].|5. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ATGGGCGGCAGCAGCTGGATA 0.642000 KRTAP4-1 85285 broad.mit.edu 37 17 39340982 39340982 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:39340982G>T uc002hwe.3 - 1 166 c.125C>A c.(124-126)TCC>TAC p.S42Y KRTAP4-1_uc010cxm.1_RNA NM_033060 NP_149049 Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 42 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCAGCTGGATACAACACA 0.637000 KRT38 8687 broad.mit.edu 37 17 39597030 39597030 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:39597030G>A uc002hwq.1 - 1 567 c.144C>T c.(142-144)AAC>AAT p.N48N NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 48 Head. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) CATGTGCCACGTTGGCCAAAA 0.632000 KRT13 3860 broad.mit.edu 37 17 39659306 39659306 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:39659306C>T uc002hwu.1 - 4 843 c.780G>A c.(778-780)GTG>GTA p.V260V KRT13_uc002hwv.1_Silent_p.V260V|KRT13_uc002hww.2_Silent_p.V153V|KRT13_uc010wfr.1_Silent_p.V153V|KRT13_uc010cxo.2_Silent_p.V260V|KRT13_uc002hwx.1_Silent_p.V248V NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 260 Linker 12.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) CATCCATCTCCACGTTGACCT 0.592000 C18orf8 29919 broad.mit.edu 37 18 21098916 21098916 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr18:21098916C>T uc010xax.1 + 8 837 c.716C>T c.(715-717)GCG>GTG p.A239V C18orf8_uc010xau.1_Missense_Mutation_p.A82V|C18orf8_uc010xav.1_Missense_Mutation_p.A191V|C18orf8_uc010xaw.1_Missense_Mutation_p.A82V|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 239 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGCACAGGAGCGGAGGTGGTC 0.438000 POLRMT 5442 broad.mit.edu 37 19 621655 621655 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:621655C>T uc002lpf.1 - 10 2099 c.2043G>A c.(2041-2043)CAG>CAA p.Q681Q NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 681 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCAGCAGCTCCTGGTGCTGCG 0.697000 CHAF1A 10036 broad.mit.edu 37 19 4433127 4433127 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:4433127G>A uc002mal.2 + 13 2364 c.2264G>A c.(2263-2265)CGG>CAG p.R755Q NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 755 Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GTCATCATCCGGGAGTTCCAG 0.682000 Chromatin_Structure KEAP1 9817 broad.mit.edu 37 19 10610425 10610425 + Silent SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:10610425G>T uc002moq.1 - 2 441 c.285C>A c.(283-285)GCC>GCA p.A95A KEAP1_uc002mor.1_Silent_p.A95A NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 95 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCACCTTGTGGGCCATGAACT 0.612000 C19orf39 126074 broad.mit.edu 37 19 11485533 11485533 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:11485533C>T uc002mrg.1 + 1 151 c.114C>T c.(112-114)CTC>CTT p.L38L NM_175871 NP_787067 Q6NVH7 CS039_HUMAN hypothetical protein LOC126074 38 0 GCCCAGTCCTCTTCCTGACAC 0.632000 ELL 8178 broad.mit.edu 37 19 18555639 18555639 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:18555639A>G uc002njh.2 - 12 1861 c.1789T>C c.(1789-1791)TAC>CAC p.Y597H ELL_uc010ebq.2_Missense_Mutation_p.Y540H|ELL_uc002njg.2_Missense_Mutation_p.Y464H NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 597 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) CTGTGCAGGTACTCGCAGCGG 0.642000 T MLL AL ZNF611 81856 broad.mit.edu 37 19 53209635 53209635 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:53209635G>A uc002pzz.2 - 7 990 c.673C>T c.(673-675)CAC>TAC p.H225Y ZNF611_uc010eqc.2_Missense_Mutation_p.H155Y|ZNF611_uc010ydo.1_Missense_Mutation_p.H155Y|ZNF611_uc010ydr.1_Missense_Mutation_p.H156Y|ZNF611_uc010ydp.1_Missense_Mutation_p.H225Y|ZNF611_uc010ydq.1_Missense_Mutation_p.H225Y|ZNF611_uc002qaa.3_Missense_Mutation_p.H155Y NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCTCTCATGTGTACTTCCTGT 0.378000 ZNF761 388561 broad.mit.edu 37 19 53958797 53958797 + Nonsense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:53958797C>T uc010eqp.2 + 7 1494 c.1036C>T c.(1036-1038)CGA>TGA p.R346* ZNF761_uc010ydy.1_Nonsense_Mutation_p.R292*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.R292* NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 346 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACGCCATCATCGACTTCATAC 0.403000 LAIR2 3904 broad.mit.edu 37 19 55019214 55019214 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:55019214T>G uc002qgc.2 + 3 301 c.179T>G c.(178-180)CTG>CGG p.L60R LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Missense_Mutation_p.L60R|LAIR2_uc010erl.2_Missense_Mutation_p.L60R NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 60 Ig-like C2-type. extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACATTCCGCCTGGAGAGGGAG 0.537000 ZIK1 284307 broad.mit.edu 37 19 58101605 58101605 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr19:58101605G>T uc002qpg.2 + 4 523 c.426G>T c.(424-426)AAG>AAT p.K142N ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.K87N|ZIK1_uc002qpi.2_Missense_Mutation_p.K129N|ZIK1_uc002qpj.2_Missense_Mutation_p.K39N NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ACAGTGCAAAGAAATCCTTGA 0.458000 NCOA1 8648 broad.mit.edu 37 2 24964989 24964989 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:24964989G>C uc002rfk.2 + 17 3898 c.3640G>C c.(3640-3642)GGA>CGA p.G1214R NCOA1_uc010eye.2_Missense_Mutation_p.G1214R|NCOA1_uc002rfi.2_Missense_Mutation_p.G1063R|NCOA1_uc002rfj.2_Missense_Mutation_p.G1214R|NCOA1_uc002rfl.2_Missense_Mutation_p.G1214R|NCOA1_uc010eyf.2_Missense_Mutation_p.G107R NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1214 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAAACATAGGAGGACAGTT 0.483000 T PAX3 alveolar rhadomyosarcoma RAB10 10890 broad.mit.edu 37 2 26350778 26350778 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:26350778C>T uc002rgv.2 + 5 1226 c.477C>T c.(475-477)ATC>ATT p.I159I NM_016131 NP_057215 P61026 RAB10_HUMAN ras-related GTP-binding protein RAB10 159 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATATAAACATCGAAAAGGCGT 0.348000 OTOF 9381 broad.mit.edu 37 2 26695389 26695389 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:26695389C>T uc002rhk.2 - 30 3989 c.3862G>A c.(3862-3864)GCG>ACG p.A1288T OTOF_uc010yla.1_Missense_Mutation_p.A18T|OTOF_uc002rhh.2_Missense_Mutation_p.A521T|OTOF_uc002rhi.2_Missense_Mutation_p.A598T|OTOF_uc002rhj.2_Missense_Mutation_p.A521T NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1288 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCCTTACCGCGTCCAGCTTC 0.582000 EHD3 30845 broad.mit.edu 37 2 31483732 31483732 + Nonsense_Mutation SNP C C T rs143059948 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:31483732C>T uc002rnu.2 + 4 1467 c.859C>T c.(859-861)CGA>TGA p.R287* EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 287 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.R287*(1) skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GAGTCTGCCCCGAAATGCTGC 0.627000 ALMS1 7840 broad.mit.edu 37 2 73680445 73680445 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:73680445C>T uc002sje.1 + 10 6905 c.6794C>T c.(6793-6795)ACA>ATA p.T2265I ALMS1_uc002sjf.1_Missense_Mutation_p.T2221I|ALMS1_uc002sjg.2_Missense_Mutation_p.T1651I|ALMS1_uc002sjh.1_Missense_Mutation_p.T1651I NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2263 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GAAATTCGGACACTTTTGATG 0.373000 PTPN18 26469 broad.mit.edu 37 2 131128152 131128152 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:131128152G>A uc002trc.2 + 9 813 c.712G>A c.(712-714)GTC>ATC p.V238I PTPN18_uc002trd.2_Missense_Mutation_p.V217I|PTPN18_uc002trb.2_Missense_Mutation_p.V131I|PTPN18_uc002tre.2_5'Flank NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 238 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) GCGAACAGGCGTCCTGTGCAC 0.582000 PLEKHB2 55041 broad.mit.edu 37 2 131904309 131904309 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:131904309C>T uc002tsg.3 + 8 1192 c.632C>T c.(631-633)ACG>ATG p.T211M PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsj.3_Missense_Mutation_p.T210M|PLEKHB2_uc002tsf.3_Missense_Mutation_p.T219M|PLEKHB2_uc010zao.1_Missense_Mutation_p.T161M|PLEKHB2_uc010zap.1_Missense_Mutation_p.R175W|PLEKHB2_uc010zaq.1_Missense_Mutation_p.R167W|PLEKHB2_uc002tsi.3_Missense_Mutation_p.T252M NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 211 membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) GGAGCAGCCACGGGCATGGCC 0.522000 NR4A2 4929 broad.mit.edu 37 2 157185018 157185018 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:157185018C>T uc002tyz.3 - 4 1314 c.892G>A c.(892-894)GTG>ATG p.V298M NR4A2_uc002tyx.3_Missense_Mutation_p.V235M|NR4A2_uc010zcf.1_Missense_Mutation_p.V298M|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 298 Nuclear receptor. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GCTAAACACACGTATTTTGCA 0.423000 TTN 7273 broad.mit.edu 37 2 179440876 179440876 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:179440876G>T uc010zfg.1 - 275 62503 c.62279C>A c.(62278-62280)GCG>GAG p.A20760E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14455E|TTN_uc010zfi.1_Missense_Mutation_p.A14388E|TTN_uc010zfj.1_Missense_Mutation_p.A14263E|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21687 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGAATCACCGCTGGCTCCCC 0.463000 FN1 2335 broad.mit.edu 37 2 216232683 216232683 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:216232683G>A uc002vfa.2 - 42 7187 c.6921C>T c.(6919-6921)GCC>GCT p.A2307A FN1_uc002vfb.2_Silent_p.A2095A|FN1_uc002vfc.2_Silent_p.A2070A|FN1_uc002vfd.2_Silent_p.A2251A|FN1_uc002vfe.2_Silent_p.A2185A|FN1_uc002vff.2_Silent_p.A2160A|FN1_uc002vfg.2_Silent_p.A2126A|FN1_uc002vfh.2_Silent_p.A2006A|FN1_uc002vfi.2_Silent_p.A2276A|FN1_uc002vfj.2_Silent_p.A2097A|FN1_uc002vez.2_Silent_p.A470A|FN1_uc010zjp.1_Silent_p.A844A|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2216 Fibronectin type-I 10.|Fibrin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATCTCCAACGGCATAATGGG 0.438000 ATG9A 79065 broad.mit.edu 37 2 220091655 220091655 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:220091655C>T uc002vke.1 - 5 334 c.148G>A c.(148-150)GTT>ATT p.V50I ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.V50I|ANKZF1_uc010zkv.1_5'Flank|ANKZF1_uc010zkw.1_5'Flank|ANKZF1_uc002vkg.2_5'Flank|ANKZF1_uc002vkh.2_5'Flank|ANKZF1_uc002vki.2_5'Flank NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 50 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATTATAAACGTGTAATTGT 0.239000 KIAA1486 57624 broad.mit.edu 37 2 226447571 226447571 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:226447571G>A uc002voe.2 + 4 1613 c.1438G>A c.(1438-1440)GTG>ATG p.V480M KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V250M NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 480 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CCCCAGACCCGTGTCGCAAGA 0.667000 SNPH 9751 broad.mit.edu 37 20 1281207 1281207 + Missense_Mutation SNP C C T rs139099290 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:1281207C>T uc002wes.2 + 5 396 c.160C>T c.(160-162)CGC>TGC p.R54C SNPH_uc002wet.2_Missense_Mutation_p.R98C NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 54 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 CCCTTGCAGGCGCTCCATGAA 0.622000 TMC2 117532 broad.mit.edu 37 20 2592836 2592836 + Splice_Site SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:2592836G>A uc002wgf.1 + 13 1609 c.1594_splice c.e13-1 p.L532_splice TMC2_uc002wgg.1_Splice_Site_p.L516_splice|TMC2_uc010zpw.1_Splice_Site_p.L364_splice|TMC2_uc010zpx.1_Splice_Site_p.L363_splice NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 integral to membrane ovary(3) 3 TTCTGTTCTAGCTTGCTAATG 0.478000 HCK 3055 broad.mit.edu 37 20 30686829 30686829 + Nonsense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:30686829G>A uc002wxh.2 + 12 1440 c.1269G>A c.(1267-1269)TGG>TGA p.W423* HCK_uc010gdy.2_Nonsense_Mutation_p.W402*|HCK_uc002wxi.2_Nonsense_Mutation_p.W401* NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 423 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCATCAAGTGGACAGCTCCTG 0.577000 RBL1 5933 broad.mit.edu 37 20 35690621 35690621 + Missense_Mutation SNP C C G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:35690621C>G uc002xgi.2 - 8 1028 c.949G>C c.(949-951)GAT>CAT p.D317H RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.D317H|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 317 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) ATCCTCTCATCAAAATCACCA 0.403000 CHD6 84181 broad.mit.edu 37 20 40045389 40045389 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:40045389A>C uc002xka.1 - 33 6503 c.6325T>G c.(6325-6327)TTA>GTA p.L2109V CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2109 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTCCCCTTTAACACCACGTGG 0.488000 KCNQ2 3785 broad.mit.edu 37 20 62038567 62038567 + Silent SNP G G A rs150982653 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:62038567G>A uc002yey.1 - 17 2226 c.2049C>T c.(2047-2049)CAC>CAT p.H683H KCNQ2_uc002yez.1_Silent_p.H652H|KCNQ2_uc002yfa.1_Silent_p.H665H|KCNQ2_uc002yfb.1_Silent_p.H655H NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 683 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CAATGCAGCCGTGCCTGTCGA 0.582000 PRPF6 24148 broad.mit.edu 37 20 62641640 62641640 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr20:62641640G>A uc002yho.2 + 10 1442 c.1274G>A c.(1273-1275)CGA>CAA p.R425Q PRPF6_uc002yhp.2_Missense_Mutation_p.R425Q NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 425 HAT 2. assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) ATGCTGAGCCGAGCTGTGGAG 0.592000 RBM11 54033 broad.mit.edu 37 21 15599341 15599341 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr21:15599341C>A uc002yjo.3 + 5 615 c.573C>A c.(571-573)CAC>CAA p.H191Q RBM11_uc002yjn.3_Missense_Mutation_p.H77Q|RBM11_uc002yjp.3_Missense_Mutation_p.H77Q NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 191 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AATGGACTCACCAACAACCAA 0.458000 PRDM15 63977 broad.mit.edu 37 21 43277345 43277345 + Silent SNP G G A rs112850683 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr21:43277345G>A uc002yzq.1 - 11 1434 c.1323C>T c.(1321-1323)TTC>TTT p.F441F PRDM15_uc002yzo.2_Silent_p.F112F|PRDM15_uc002yzp.2_Silent_p.F112F|PRDM15_uc002yzr.1_Silent_p.F112F NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 441 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAAAGGGACCGAACTGTGTCC 0.552000 ATP6V1E1 529 broad.mit.edu 37 22 18082836 18082836 + Missense_Mutation SNP C C T rs144829775 by1000genomes TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr22:18082836C>T uc002zmr.1 - 6 579 c.392G>A c.(391-393)CGA>CAA p.R131Q ATP6V1E1_uc002zms.1_Missense_Mutation_p.R101Q|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.R109Q NM_001696 NP_001687 P36543 VATE1_HUMAN vacuolar H+ ATPase E1 isoform a 131 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism large_intestine(1)|central_nervous_system(1) 2 all_epithelial(15;0.206) Lung(27;0.19) AACAATCATTCGGGGCTCCAG 0.269000 H1F0 3005 broad.mit.edu 37 22 38201900 38201900 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr22:38201900G>T uc003aty.2 + 1 787 c.349G>T c.(349-351)GTA>TTA p.V117L GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank NM_005318 NP_005309 P07305 H10_HUMAN H1 histone family, member 0 117 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding 0 Melanoma(58;0.045) AATCAAGAAGGTAGCCACGCC 0.567000 RPL3 6122 broad.mit.edu 37 22 39714449 39714449 + Missense_Mutation SNP G G A rs11547980 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr22:39714449G>A uc003axi.2 - 2 220 c.152C>T c.(151-153)GCT>GTT p.A51V RPL3_uc003axh.2_Missense_Mutation_p.A51V|RPL3_uc003axj.2_5'UTR|RPL3_uc011aoj.1_Missense_Mutation_p.A51V|RPL3_uc010gxx.2_5'UTR|RPL3_uc003axg.2_5'UTR|RPL3_uc003axk.1_5'UTR NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 51 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) AGTCATGCCAGCCTTGTATCC 0.577000 SBF1 6305 broad.mit.edu 37 22 50904409 50904409 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr22:50904409G>A uc003blh.2 - 9 1187 c.992C>T c.(991-993)ACG>ATG p.T331M SBF1_uc011arx.1_Translation_Start_Site|SBF1_uc003bli.2_Missense_Mutation_p.T332M NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 331 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CACACTGTGCGTCTGACTCTG 0.617000 SCN11A 11280 broad.mit.edu 37 3 38888949 38888949 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:38888949C>A uc011ays.1 - 26 4811 c.4612G>T c.(4612-4614)GCC>TCC p.A1538S NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1538 IV. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGCTGCTGGCAAAAGTCTTG 0.438000 ERC2 26059 broad.mit.edu 37 3 56114990 56114990 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:56114990A>C uc003dhr.1 - 7 1752 c.1496T>G c.(1495-1497)CTG>CGG p.L499R ERC2_uc003dht.1_5'UTR NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 499 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTTTTCTTCCAGTCGTAATCT 0.413000 B4GALT4 8702 broad.mit.edu 37 3 118948741 118948741 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:118948741G>A uc003ecg.2 - 3 847 c.206C>T c.(205-207)ACG>ATG p.T69M B4GALT4_uc003ece.1_Missense_Mutation_p.T69M|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.T69M|B4GALT4_uc003eci.2_Missense_Mutation_p.T69M|B4GALT4_uc011biy.1_Intron NM_212543 NP_997708 O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 69 Lumenal (Potential). membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity 0 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) TACCTTCTTCGTGGATGCTTC 0.393000 ARGFX 503582 broad.mit.edu 37 3 121305435 121305435 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:121305435G>T uc003eef.2 + 5 1031 c.936G>T c.(934-936)TTG>TTT p.L312F NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 312 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) TGGTAGACTTGGGATTTCTCT 0.398000 CCDC37 348807 broad.mit.edu 37 3 126139048 126139048 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:126139048A>G uc003eiu.1 + 11 1157 c.1058A>G c.(1057-1059)GAG>GGG p.E353G CCDC37_uc010hsg.1_Missense_Mutation_p.E354G NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 353 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) CAGCCCAGCGAGTCCAGCGGT 0.667000 CP 1356 broad.mit.edu 37 3 148927978 148927978 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:148927978C>T uc003ewy.3 - 3 836 c.583G>A c.(583-585)GGA>AGA p.G195R CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.G195R|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 195 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATTAAAGGTCCGATGAGTCCT 0.408000 SERPINI2 5276 broad.mit.edu 37 3 167183334 167183334 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:167183334A>C uc003fer.1 - 3 664 c.606T>G c.(604-606)AAT>AAG p.N202K SERPINI2_uc003fes.1_Missense_Mutation_p.N212K|SERPINI2_uc003fet.1_Missense_Mutation_p.N202K NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 202 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TCTTAGTAAAATTTATCAGCT 0.368000 TNFSF10 8743 broad.mit.edu 37 3 172241149 172241149 + Missense_Mutation SNP C C T rs138912628 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr3:172241149C>T uc003fid.2 - 1 121 c.26G>A c.(25-27)GGA>GAA p.G9E TNFSF10_uc003fie.2_Missense_Mutation_p.G9E|TNFSF10_uc010hwu.1_RNA NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 9 Cytoplasmic (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CAGGCTGGGTCCCCCCTGGAC 0.537000 CHRNA9 55584 broad.mit.edu 37 4 40356537 40356537 + Nonstop_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr4:40356537G>T uc003gva.1 + 5 1456 c.1440G>T c.(1438-1440)TAG>TAT p.*480Y NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 480 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) GAGCGGATTAGTCACAGATAT 0.358000 BANK1 55024 broad.mit.edu 37 4 102783799 102783799 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr4:102783799A>C uc003hvy.3 + 4 1015 c.741A>C c.(739-741)AAA>AAC p.K247N BANK1_uc003hvx.3_Missense_Mutation_p.K232N|BANK1_uc010ill.2_Missense_Mutation_p.K114N|BANK1_uc003hvz.3_Missense_Mutation_p.K217N NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 247 DBB. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GGAATAAGAAAGTCTGGTGCA 0.323000 WDR17 116966 broad.mit.edu 37 4 177084327 177084327 + Missense_Mutation SNP G G A rs144009080 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr4:177084327G>A uc003iuj.2 + 23 3101 c.2945G>A c.(2944-2946)CGC>CAC p.R982H WDR17_uc003iuk.2_Missense_Mutation_p.R958H|WDR17_uc003ium.3_Missense_Mutation_p.R958H|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.R201H NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 982 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TACCTGATTCGCGGAAATGAA 0.468000 IRX1 79192 broad.mit.edu 37 5 3600751 3600752 + Missense_Mutation DNP GC GC TT TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:3600751_3600752GC>TT uc003jde.2 + 3 1393_1394 c.1341_1342GC>TT c.(1339-1344)TCGCCG>TCTTCG p.P448S NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 448 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GGCCAGATTCGCCGGCACAGCA 0.624000 NSUN2 54888 broad.mit.edu 37 5 6616908 6616908 + Missense_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:6616908T>C uc003jdu.2 - 9 1018 c.953A>G c.(952-954)TAT>TGT p.Y318C NSUN2_uc003jdt.2_Missense_Mutation_p.Y82C|NSUN2_uc011cmk.1_Missense_Mutation_p.Y283C|NSUN2_uc003jdv.2_Missense_Mutation_p.Y82C NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 318 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 ACACGTGGAATACACCATCCT 0.458000 TRIO 7204 broad.mit.edu 37 5 14368883 14368883 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:14368883G>A uc003jff.2 + 17 2947 c.2941G>A c.(2941-2943)GAC>AAC p.D981N TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.D932N|TRIO_uc003jfh.1_Missense_Mutation_p.D630N NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 981 Spectrin 3. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CAACCACTACGACATGGACAT 0.542000 COL4A3BP 10087 broad.mit.edu 37 5 74721289 74721289 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:74721289C>A uc011csu.1 - 5 914 c.492G>T c.(490-492)ATG>ATT p.M164I COL4A3BP_uc003kds.2_Missense_Mutation_p.M164I|COL4A3BP_uc003kdt.2_Missense_Mutation_p.M292I|COL4A3BP_uc003kdu.2_Missense_Mutation_p.M164I NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 164 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TAAATGTTTCCATTTCAGCCA 0.388000 ATP6AP1L 92270 broad.mit.edu 37 5 81605974 81605974 + Splice_Site SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:81605974A>G uc003khv.2 + 8 1406 c.81_splice c.e8-2 p.W27_splice ATP6AP1L_uc003khw.2_Splice_Site_p.W27_splice NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 TCCTTTTCTTAGGTTGTCTTT 0.333000 SLCO4C1 353189 broad.mit.edu 37 5 101583042 101583042 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:101583042C>T uc003knm.2 - 10 2012 c.1725G>A c.(1723-1725)GCG>GCA p.A575A NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 575 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGGGCAGTTTCGCACAATGAG 0.353000 TSLP 85480 broad.mit.edu 37 5 110409342 110409342 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:110409342A>G uc003kpb.2 + 3 549 c.350A>G c.(349-351)CAG>CGG p.Q117R TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_Missense_Mutation_p.Q21R NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 117 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) TCGGAAACTCAGGTAAGCCCG 0.498000 NME5 8382 broad.mit.edu 37 5 137454573 137454573 + Silent SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:137454573T>C uc003lce.2 - 5 567 c.489A>G c.(487-489)TTA>TTG p.L163L BRD8_uc003lcc.1_Intron NM_003551 NP_003542 P56597 NDK5_HUMAN non-metastatic cells 5, protein expressed in 163 anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process ATP binding|nucleoside diphosphate kinase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCATTATATGTAAATTTAAAT 0.323000 FAM53C 51307 broad.mit.edu 37 5 137680803 137680803 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:137680803G>C uc003lcv.2 + 4 896 c.426G>C c.(424-426)TGG>TGC p.W142C FAM53C_uc003lcw.2_Missense_Mutation_p.W142C|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 142 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAAGCTGTGGACTCCCATAA 0.692000 HSPA9 3313 broad.mit.edu 37 5 137902355 137902355 + Missense_Mutation SNP G G C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:137902355G>C uc003ldf.2 - 9 1040 c.932C>G c.(931-933)GCT>GGT p.A311G HSPA9_uc011cyw.1_Missense_Mutation_p.A242G NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 311 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTTTTCAGCAGCTTCCCGTAC 0.433000 PCDHB13 56123 broad.mit.edu 37 5 140595078 140595078 + Silent SNP C C T rs138445636 TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:140595078C>T uc003lja.1 + 1 1570 c.1383C>T c.(1381-1383)CGC>CGT p.R461R NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 461 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTCGTCCGCGAGAACAACA 0.607000 PCDHB13 56123 broad.mit.edu 37 5 140596015 140596015 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:140596015T>G uc003lja.1 + 1 2507 c.2320T>G c.(2320-2322)TTC>GTC p.F774V NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 774 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TATCCCCAACTTCCCTCCCCA 0.488000 GABRG2 2566 broad.mit.edu 37 5 161530999 161530999 + Silent SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr5:161530999A>C uc003lyz.3 + 6 1094 c.736A>C c.(736-738)AGA>CGA p.R246R GABRG2_uc010jjc.2_Silent_p.R286R|GABRG2_uc003lyy.3_Silent_p.R246R|GABRG2_uc011dej.1_Silent_p.R151R NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 246 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TGTTGGTCTAAGAAATACCAC 0.393000 C6orf201 404220 broad.mit.edu 37 6 4099426 4099426 + Missense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr6:4099426T>A uc003mwa.3 + 3 1046 c.278T>A c.(277-279)GTT>GAT p.V93D C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_Missense_Mutation_p.V93D|C6orf201_uc003mwb.3_RNA NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN hypothetical protein LOC404220 93 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) TCCACCATAGTTGTCAGGTAG 0.393000 ABT1 29777 broad.mit.edu 37 6 26598746 26598746 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr6:26598746G>A uc003nii.2 + 3 723 c.692G>A c.(691-693)CGT>CAT p.R231H NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 231 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity ovary(1) 1 CCAGGGGGACGTGAACGGGCT 0.657000 HIST1H1B 3009 broad.mit.edu 37 6 27834674 27834674 + Nonsense_Mutation SNP T T A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr6:27834674T>A uc003njx.2 - 1 686 c.634A>T c.(634-636)AAA>TAA p.K212* NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 212 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 GCTTTAGGTTTTGCTGCTTTG 0.547000 LAMA4 3910 broad.mit.edu 37 6 112462655 112462655 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr6:112462655G>A uc003pvu.2 - 21 3027 c.2718C>T c.(2716-2718)TAC>TAT p.Y906Y LAMA4_uc003pvv.2_Silent_p.Y899Y|LAMA4_uc003pvt.2_Silent_p.Y899Y NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 906 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AATTATAGACGTATACCAGAT 0.368000 REPS1 85021 broad.mit.edu 37 6 139251228 139251228 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr6:139251228C>T uc003qii.2 - 9 1722 c.1143G>A c.(1141-1143)GGG>GGA p.G381G REPS1_uc003qig.3_Silent_p.G381G|REPS1_uc011edr.1_Silent_p.G381G|REPS1_uc003qij.2_Silent_p.G381G|REPS1_uc003qik.2_Silent_p.G14G NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 381 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CTGGCTGATCCCCAACATCTG 0.398000 HIVEP2 3097 broad.mit.edu 37 6 143093784 143093784 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr6:143093784G>A uc003qjd.2 - 5 2835 c.2092C>T c.(2092-2094)CGG>TGG p.R698W NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTCTCTTTCCGGCGTTTCCTG 0.498000 THSD7A 221981 broad.mit.edu 37 7 11514005 11514005 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:11514005T>G uc003ssf.3 - 8 2460 c.2208A>C c.(2206-2208)AAA>AAC p.K736N NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 736 TSP type-1 7.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CACAGATGACTTTTCTTGTCT 0.512000 HNSCC(18;0.044) SEMA3D 223117 broad.mit.edu 37 7 84628757 84628757 + Nonstop_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:84628757T>C uc003uic.2 - 17 2373 c.2333A>G c.(2332-2334)TAG>TGG p.*778W SEMA3D_uc010led.2_Nonstop_Mutation_p.*778W|SEMA3D_uc003uib.2_Nonstop_Mutation_p.*417W NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 778 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 AGTAGAAAACTACGTGGCTAC 0.398000 GNGT1 2792 broad.mit.edu 37 7 93540228 93540228 + Nonstop_Mutation SNP T T C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:93540228T>C uc003unc.1 + 3 371 c.223T>C c.(223-225)TAA>CAA p.*75Q GNGT1_uc003umx.1_RNA NM_021955 NP_068774 P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), 75 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TGTGATTTCATAATACAAACA 0.343000 RELN 5649 broad.mit.edu 37 7 103155636 103155636 + Silent SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:103155636A>C uc003vca.2 - 50 8275 c.8115T>G c.(8113-8115)ACT>ACG p.T2705T RELN_uc010liz.2_Silent_p.T2705T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2705 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTTACCTGAAGTTTTGTCTT 0.483000 LRGUK 136332 broad.mit.edu 37 7 133884049 133884049 + Missense_Mutation SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:133884049G>T uc003vrm.1 + 14 1639 c.1623G>T c.(1621-1623)GAG>GAT p.E541D NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 541 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 AAAAATATGAGGGATATTTGC 0.363000 FAM131B 9715 broad.mit.edu 37 7 143053722 143053722 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:143053722G>A uc003wct.2 - 6 2626 c.920C>T c.(919-921)GCT>GTT p.A307V FAM131B_uc010loz.2_Missense_Mutation_p.A275V|FAM131B_uc003wcu.3_Missense_Mutation_p.A307V|FAM131B_uc010lpa.2_Missense_Mutation_p.A335V NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 307 0 Melanoma(164;0.205) CCGGCTGAGAGCGGTAGACAT 0.587000 OR2F1 26211 broad.mit.edu 37 7 143657150 143657150 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:143657150C>T uc003wds.1 + 1 131 c.87C>T c.(85-87)GTC>GTT p.V29V NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) CCCTGTTTGTCCTGTTCTTGG 0.488000 KRBA1 84626 broad.mit.edu 37 7 149420837 149420837 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:149420837C>T uc003wfz.2 + 8 1184 c.785C>T c.(784-786)GCG>GTG p.A262V KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 262 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AAGACCGAGGCGGTTTCAGGG 0.557000 DPP6 1804 broad.mit.edu 37 7 154667658 154667658 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr7:154667658G>A uc003wlk.2 + 20 2055 c.1926G>A c.(1924-1926)GAG>GAA p.E642E DPP6_uc003wli.2_Silent_p.E578E|DPP6_uc003wlm.2_Silent_p.E580E|DPP6_uc011kvq.1_Silent_p.E535E NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 642 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGAAGTTCGAGGTGAGCTGGG 0.647000 PI15 51050 broad.mit.edu 37 8 75756215 75756215 + Splice_Site SNP G G T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:75756215G>T uc003yal.2 + 3 453 c.274_splice c.e3-1 p.V92_splice uc003yak.1_Intron|PI15_uc003yam.2_Splice_Site_p.V92_splice NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TTCCCCTACAGGTTTGGGATG 0.393000 ZFHX4 79776 broad.mit.edu 37 8 77617116 77617116 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:77617116T>G uc003yav.2 + 2 1180 c.793T>G c.(793-795)TTC>GTC p.F265V ZFHX4_uc003yat.1_Missense_Mutation_p.F265V|ZFHX4_uc003yau.1_Missense_Mutation_p.F265V|ZFHX4_uc003yaw.1_Missense_Mutation_p.F265V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 265 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTGTCCAAATTCGATGGTTG 0.418000 HNSCC(33;0.089) CA13 377677 broad.mit.edu 37 8 86193528 86193528 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:86193528C>T uc003ydg.2 + 7 1081 c.739C>T c.(739-741)CGC>TGC p.R247C CA13_uc003ydf.1_Intron NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 247 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 GAGCAATCACCGCCCACCACA 0.498000 TMEM64 169200 broad.mit.edu 37 8 91657358 91657358 + Missense_Mutation SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:91657358A>G uc003yen.2 - 1 776 c.776T>C c.(775-777)CTT>CCT p.L259P TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Missense_Mutation_p.L259P|uc003yep.2_5'Flank NM_001008495 NP_001008495 Q6YI46 TMM64_HUMAN transmembrane protein 64 isoform 1 259 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(11;0.0598) TGCATTCTGAAGCCCAAAAGG 0.587000 OREG0018858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) POP1 10940 broad.mit.edu 37 8 99140731 99140731 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:99140731G>A uc003yij.3 + 4 549 c.449G>A c.(448-450)CGC>CAC p.R150H POP1_uc011lgv.1_Missense_Mutation_p.R150H|POP1_uc003yik.2_Missense_Mutation_p.R150H NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 150 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AACGTCAAACGCCTTCCCAGA 0.453000 TRPS1 7227 broad.mit.edu 37 8 116616721 116616721 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:116616721G>A uc003ynz.2 - 3 1895 c.1436C>T c.(1435-1437)TCT>TTT p.S479F TRPS1_uc011lhy.1_Missense_Mutation_p.S483F|TRPS1_uc003yny.2_Missense_Mutation_p.S492F|TRPS1_uc010mcy.2_Missense_Mutation_p.S479F NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 479 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATTAATGACAGAGCCCCTGGA 0.463000 Langer-Giedion_syndrome EXT1 2131 broad.mit.edu 37 8 118847770 118847770 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:118847770C>T uc003yok.1 - 3 1850 c.1077G>A c.(1075-1077)ATG>ATA p.M359I NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 359 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) CATTGCTGAGCATCACAGGGA 0.483000 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome LYPD2 137797 broad.mit.edu 37 8 143832577 143832577 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:143832577G>A uc003ywz.2 - 2 153 c.70C>T c.(70-72)CGC>TGC p.R24C NM_205545 NP_991108 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 precursor 24 anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACGTAGCAGCGCAGGGCCGGC 0.637000 CPSF1 29894 broad.mit.edu 37 8 145623313 145623313 + Silent SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:145623313G>A uc003zcj.2 - 20 2004 c.1929C>T c.(1927-1929)GGC>GGT p.G643G NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 643 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CGATGGGGGCGCCCAGGTCCA 0.637000 IFNW1 3467 broad.mit.edu 37 9 21141013 21141013 + Missense_Mutation SNP C C A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr9:21141013C>A uc003zol.1 - 1 1132 c.557G>T c.(556-558)AGA>ATA p.R186I NM_002177 NP_002168 P05000 IFNW1_HUMAN interferon, omega 1 precursor 186 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATCTTTACTTCTCAGTCTTTC 0.378000 IFNA14 3448 broad.mit.edu 37 9 21239632 21239632 + Silent SNP A A G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr9:21239632A>G uc010mis.2 - 1 347 c.303T>C c.(301-303)GAT>GAC p.D101D IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 101 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAGGGTCTCATCCCAAGCAG 0.478000 ZNF462 58499 broad.mit.edu 37 9 109686646 109686646 + Missense_Mutation SNP T T G TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr9:109686646T>G uc004bcz.2 + 3 742 c.453T>G c.(451-453)AAT>AAG p.N151K ZNF462_uc010mto.2_5'UTR|ZNF462_uc004bda.2_5'UTR NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 151 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TAAATTATAATATCATGATGC 0.438000 USP20 10868 broad.mit.edu 37 9 132637711 132637711 + Missense_Mutation SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr9:132637711C>T uc004bys.2 + 20 2382 c.2171C>T c.(2170-2172)GCG>GTG p.A724V USP20_uc004byr.2_Missense_Mutation_p.A724V|USP20_uc004byt.1_Missense_Mutation_p.A724V NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 724 DUSP 1. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) AACACCTTCGCGGAGCCAGGC 0.682000 ASMT 438 broad.mit.edu 37 X 1748789 1748789 + Silent SNP C C T TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chrX:1748789C>T uc004cqd.2 + 6 664 c.519C>T c.(517-519)ACC>ACT p.T173T ASMT_uc010ncy.2_Silent_p.T173T|ASMT_uc004cqe.2_Silent_p.T173T NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 173 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCGTGCTGACCGCCTTTGACC 0.557000 CD40LG 959 broad.mit.edu 37 X 135730447 135730447 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chrX:135730447G>A uc004faa.2 + 1 112 c.40G>A c.(40-42)GCC>ACC p.A14T CD40LG_uc010nsd.2_Missense_Mutation_p.A14T|CD40LG_uc010nse.1_5'Flank NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 14 Cytoplasmic (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CCGATCTGCGGCCACTGGACT 0.428000 Immune_Deficiency_with_Hyper-IgM ARHGEF6 9459 broad.mit.edu 37 X 135770113 135770113 + Missense_Mutation SNP A A C TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chrX:135770113A>C uc004fab.2 - 11 1685 c.1223T>G c.(1222-1224)ATC>AGC p.I408S ARHGEF6_uc011mwd.1_Missense_Mutation_p.I281S|ARHGEF6_uc011mwe.1_Missense_Mutation_p.I254S NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 408 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) GAATGCTACGATTGCTTTCAG 0.259000 MAGEA4 4103 broad.mit.edu 37 X 151092504 151092504 + Missense_Mutation SNP G G A TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chrX:151092504G>A uc004fez.2 + 3 524 c.368G>A c.(367-369)CGC>CAC p.R123H MAGEA4_uc004ffa.2_Missense_Mutation_p.R123H|MAGEA4_uc004ffb.2_Missense_Mutation_p.R123H|MAGEA4_uc004ffc.2_Missense_Mutation_p.R123H|MAGEA4_uc004ffd.2_Missense_Mutation_p.R123H NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 123 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTGCTCCGCAAGTATCGA 0.522000 MKI67IP 84365 broad.mit.edu 37 2 122494398 122494415 + In_Frame_Del DEL GGCCCAGCCGGGCCAGAA GGCCCAGCCGGGCCAGAA - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr2:122494397_122494414TGGCCCAGCCGGGCCAGAA>T uc002tnk.3 - 0 90_107 c.13_30TTCTGGCCCGGCTGGGCCA>A c.(13-30)tctggcccggctgggcca>A p.SGPAGP5del MKI67IP_uc010fls.3_In_Frame_Del_p.SGPAGP5del NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA. 5 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 GCGACAGGATTGGCCCAGCCGGGCCAGAAAAAGTCGCC 0.638 HPSE 10855 broad.mit.edu 37 4 84230609 84230609 + Frame_Shift_Del DEL A A - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr4:84230608_84230608GA>G uc003hoj.4 - 6 1030 c.931_931TC>C c.(931-933)ctafs p.L311fs HPSE_uc003hoi.3_Frame_Shift_Del_p.L253fs|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Frame_Shift_Del_p.L54fs|HPSE_uc003hok.4_Frame_Shift_Del_p.L311fs|HPSE_uc011cct.2_Frame_Shift_Del_p.L311fs NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 311 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TCAGGGTTTAGAAAATCTTCC 0.284 FNTA 2339 broad.mit.edu 37 8 42932461 42932462 + Frame_Shift_Ins INS - - AACACCAC TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr8:42932460_42932461T>TAACACCAC uc003xps.3 + 5 783_784 c.735_736T>TAACACCAC c.(733-738)tctaacfs p.S245fs FNTA_uc003xpt.3_Frame_Shift_Ins_p.S154fs|FNTA_uc003xpv.3_Non-coding_Transcript NM_002027 NP_002018 P49354 FNTA_HUMAN Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA. 245 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TCGTTATTTCTAACACCACTGG 0.401 PHF12 57649 broad.mit.edu 37 17 27277196 27277198 + In_Frame_Del DEL CTT CTT - TCGA-CG-4300-01A-01D-1158-08 TCGA-CG-4300-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8dfc292-64ca-4ad1-a80f-501cfe1087bf 01d85075-d33d-4289-bd05-a1f44d07bf3a g.chr17:27277195_27277197CCTT>C uc002hdg.1 - 1 664_666 c.134_136AAGG>G c.(133-138)aaggag>aGag p.45_46KE>R PHF12_uc010wbb.1_In_Frame_Del_p.27_28KE>R|PHF12_uc002hdi.1_In_Frame_Del_p.41_42KE>R|PHF12_uc002hdj.1_In_Frame_Del_p.45_46KE>R|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_In_Frame_Del_p.41_42KE>R NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA. 45 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CTCCGGGGCTCCTTCTCAGGCTT 0.616