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 CLCN6 1185 broad.mit.edu 37 1 11897130 11897130 + Missense_Mutation SNP G C C rs137976806 TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr1:11897130G>C uc001ate.3 + 19 2168 c.2055G>C c.(2053-2055)GAG>GAC p.E685D CLCN6_uc010oat.1_Missense_Mutation_p.E401D|CLCN6_uc010oau.1_Missense_Mutation_p.E663D NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 685 Cytoplasmic (By similarity). cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CATCCAGCGAGCTACGGAACA 0.622 CSMD2 114784 broad.mit.edu 37 1 34035009 34035009 + Missense_Mutation SNP T C C rs143469891 byFrequency TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr1:34035009T>C uc001bxn.1 - 53 8131 c.8102A>G c.(8101-8103)AAT>AGT p.N2701S CSMD2_uc001bxm.1_Missense_Mutation_p.N2699S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2701 Sushi 17.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCAGAGCCCATTGGCCATGCA 0.547 ZC3H12A 80149 broad.mit.edu 37 1 37948728 37948728 + Missense_Mutation SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr1:37948728G>A uc001cbb.3 + 6 1466 c.1316G>A c.(1315-1317)GGC>GAC p.G439D ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 439 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGGACTCGGGCATTGGCTCC 0.662 CACNA1E 777 broad.mit.edu 37 1 181700365 181700365 + Missense_Mutation SNP C A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr1:181700365C>A uc001gow.2 + 19 2460 c.2295C>A c.(2293-2295)CAC>CAA p.H765Q CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_5'Flank|CACNA1E_uc009wxt.2_5'Flank NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 765 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GCAGCAGCCACCTGTATGTGT 0.522 OR4C6 219432 broad.mit.edu 37 11 55433335 55433335 + Silent SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr11:55433335G>A uc001nht.3 + 3 958 c.693G>A c.(691-693)CGG>CGA p.R231R OR4C6_uc010rik.1_Silent_p.R231R NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CTAAAGGGCGGCACAAAGCCC 0.507 HELB 92797 broad.mit.edu 37 12 66725048 66725048 + Nonsense_Mutation SNP G T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr12:66725048G>T uc001sti.2 + 12 2813 c.2785G>T c.(2785-2787)GAG>TAG p.E929* HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 929 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GATTGCAGAGGAGTCTCAGCT 0.532 RB1 5925 broad.mit.edu 37 13 49039505 49039505 + Splice_Site SNP G T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr13:49039505G>T uc001vcb.2 + 23 2655 c.2489_splice c.e23+1 p.R830_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAGATCAAGGTGTGTGTTTT 0.358 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) C14orf37 145407 broad.mit.edu 37 14 58605421 58605421 + Frame_Shift_Del DEL T - - TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr14:58605421delT uc001xdc.2 - 2 767 c.656delA c.(655-657)AATfs p.N219fs C14orf37_uc010tro.1_Frame_Shift_Del_p.N257fs|C14orf37_uc001xdd.2_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.2_Frame_Shift_Del_p.N219fs NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 219 Extracellular (Potential). integral to membrane binding 0 AGTCTTTGGATTGGTGGTTAG 0.448 ZSCAN29 146050 broad.mit.edu 37 15 43658653 43658653 + Missense_Mutation SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr15:43658653G>A uc001zrk.1 - 3 1024 c.877C>T c.(877-879)CGG>TGG p.R293W ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.R292W NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 293 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) TCCAGGGTCCGGAGGAAGCCA 0.542 FANCI 55215 broad.mit.edu 37 15 89859689 89859689 + Nonstop_Mutation SNP A C C TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr15:89859689A>C uc010bnp.1 + 38 4076 c.3986A>C c.(3985-3987)TAA>TCA p.*1329S FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.3_3'UTR|POLG_uc002bnr.3_3'UTR NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 1329 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) AGGAAAAAATAAATGAAATGC 0.438 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia CHST5 23563 broad.mit.edu 37 16 75563927 75563927 + Missense_Mutation SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr16:75563927C>T uc002fei.2 - 3 1751 c.356G>A c.(355-357)CGC>CAC p.R119H CHST5_uc002fej.1_Missense_Mutation_p.R125H NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 119 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 AAAGATAGAGCGCATCAGGTC 0.617 KARS 3735 broad.mit.edu 37 16 75670442 75670442 + Missense_Mutation SNP C G G TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr16:75670442C>G uc002feq.2 - 4 440 c.392G>C c.(391-393)AGG>ACG p.R131T KARS_uc002fer.2_Missense_Mutation_p.R159T|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'UTR NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 131 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) GGCATGGATCCTACCTAGAAA 0.403 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr17:7578457C>T uc002gim.2 - 5 667 c.473G>A c.(472-474)CGC>CAC p.R158H TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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) GGCCATGGCGCGGACGCGGGT 0.627 111 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) CYP4F2 8529 broad.mit.edu 37 19 15989675 15989675 + Missense_Mutation SNP C T T rs143677430 byFrequency TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr19:15989675C>T uc002nbs.1 - 13 1519 c.1469G>A c.(1468-1470)CGC>CAC p.R490H CYP4F2_uc010xot.1_Missense_Mutation_p.R341H NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 490 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 AGGCAGGACGCGGAAGCGCAG 0.672 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C G G TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 ZNF578 147660 broad.mit.edu 37 19 53014344 53014344 + Missense_Mutation SNP G T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr19:53014344G>T uc002pzp.3 + 6 954 c.710G>T c.(709-711)GGC>GTC p.G237V NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 12 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AATGAGACTGGCGAAGCCTTT 0.313 LAIR1 3903 broad.mit.edu 37 19 54875933 54875933 + Silent SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr19:54875933G>A uc002qfk.1 - 2 349 c.39C>T c.(37-39)CTC>CTT p.L13L LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.1_Silent_p.L7L|LAIR1_uc002qfo.2_Intron NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 13 integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GGGCCAGGCAGAGCACTGGAA 0.617 TTN 7273 broad.mit.edu 37 2 179458768 179458768 + Missense_Mutation SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr2:179458768C>T uc010zfg.1 - 246 50872 c.50648G>A c.(50647-50649)CGT>CAT p.R16883H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10578H|TTN_uc010zfi.1_Missense_Mutation_p.R10511H|TTN_uc010zfj.1_Missense_Mutation_p.R10386H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17810 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) GGAATCTGAACGTTTGGCCTT 0.418 SF3B1 23451 broad.mit.edu 37 2 198267698 198267698 + Missense_Mutation SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr2:198267698C>T uc002uue.2 - 13 1829 c.1781G>A c.(1780-1782)CGA>CAA p.R594Q NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 594 HEAT 2. R -> L (in Ref. 1; AAC97189). nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) AATGATCTCTCGGCCTTCCAC 0.338 PTPRA 5786 broad.mit.edu 37 20 3003414 3003414 + Missense_Mutation SNP G A A rs117251752 by1000genomes TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr20:3003414G>A uc010zqd.1 + 15 1758 c.1441G>A c.(1441-1443)GTG>ATG p.V481M PTPRA_uc002whj.2_Missense_Mutation_p.V470M|PTPRA_uc002whk.2_Missense_Mutation_p.V461M|PTPRA_uc002whl.2_Missense_Mutation_p.V461M|PTPRA_uc002whm.2_Missense_Mutation_p.V237M|PTPRA_uc002whn.2_Missense_Mutation_p.V461M|PTPRA_uc002who.2_Missense_Mutation_p.V133M NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 470 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 GAAGGTGGACGTGTATGGCTT 0.577 KIF16B 55614 broad.mit.edu 37 20 16496298 16496298 + Silent SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr20:16496298G>A uc002wpg.1 - 4 401 c.243C>T c.(241-243)ACC>ACT p.T81T KIF16B_uc010gch.1_Silent_p.T81T|KIF16B_uc010gci.1_Silent_p.T81T|KIF16B_uc010gcj.1_Silent_p.T81T NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 81 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CTGTGCCGAGGGTTTTGAAAA 0.373 WFDC8 90199 broad.mit.edu 37 20 44181787 44181787 + Missense_Mutation SNP T C C TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr20:44181787T>C uc002xow.2 - 5 653 c.574A>G c.(574-576)AGG>GGG p.R192G WFDC8_uc002xox.2_Missense_Mutation_p.R192G NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 192 WAP 2. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GTCCAGGCCCTGGCACAAACA 0.502 TPTE 7179 broad.mit.edu 37 21 10951271 10951271 + Silent SNP T A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr21:10951271T>A uc002yip.1 - 10 809 c.441A>T c.(439-441)GTA>GTT p.V147V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 147 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTACCTTTCTACAAATACTC 0.229 PLCD1 5333 broad.mit.edu 37 3 38052749 38052749 + Missense_Mutation SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr3:38052749G>A uc003chn.2 - 5 870 c.746C>T c.(745-747)GCG>GTG p.A249V PLCD1_uc003chm.2_Missense_Mutation_p.A270V NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 249 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GAGGGCCAGCGCAGGCCCTGC 0.687 CX3CR1 1524 broad.mit.edu 37 3 39307436 39307436 + Missense_Mutation SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr3:39307436C>T uc003cjl.2 - 2 657 c.565G>A c.(565-567)GTG>ATG p.V189M NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 189 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TTGCGGAGCACGGGCCAGATT 0.483 CLEC3B 7123 broad.mit.edu 37 3 45077251 45077251 + Silent SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr3:45077251C>T uc003cok.3 + 3 540 c.444C>T c.(442-444)ACC>ACT p.T148T CLEC3B_uc003col.2_Silent_p.T106T NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 148 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGACATGACCGGCGCCCGCA 0.667 ARMC8 25852 broad.mit.edu 37 3 137991889 137991889 + Silent SNP A G G TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr3:137991889A>G uc003esa.1 + 18 1885 c.1518A>G c.(1516-1518)TTA>TTG p.L506L TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 520 ARM 11. binding 0 TCCGGTTATTATCAGATTCAG 0.368 SDHAP2 727956 broad.mit.edu 37 3 195400728 195400728 + Silent SNP A G G rs12107841 by1000genomes TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr3:195400728A>G uc003fuw.2 + 9 1218 c.24A>G c.(22-24)CCA>CCG p.P8P SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GATTGTGCCCAGCCTGTACGC 0.587 TEC 7006 broad.mit.edu 37 4 48140944 48140944 + Missense_Mutation SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr4:48140944C>T uc003gxz.2 - 16 1722 c.1631G>A c.(1630-1632)AGC>AAC p.S544N NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 544 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 ATCTGATTTGCTGCTGAAGCG 0.438 KIAA0922 23240 broad.mit.edu 37 4 154517485 154517485 + Missense_Mutation SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr4:154517485G>A uc003inm.3 + 20 2120 c.2068G>A c.(2068-2070)GTA>ATA p.V690I KIAA0922_uc010ipp.2_Missense_Mutation_p.V691I|KIAA0922_uc010ipq.2_Missense_Mutation_p.V459I NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 690 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) AAGGGTTGGCGTAGTTTTCAC 0.423 C5orf36 285600 broad.mit.edu 37 5 93856069 93856069 + Missense_Mutation SNP T G G TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr5:93856069T>G uc011cuk.1 - 5 1111 c.854A>C c.(853-855)GAA>GCA p.E285A C5orf36_uc003kkp.2_Missense_Mutation_p.E285A NM_001145678 NP_001139150 Q8IV33 K0825_HUMAN hypothetical protein LOC285600 isoform 1 285 0 all_cancers(142;2.12e-08)|all_epithelial(76;5.95e-11)|all_lung(232;0.000996)|Lung NSC(167;0.0108)|Ovarian(174;0.0218)|Colorectal(57;0.0329)|Breast(839;0.214)|Lung SC(612;0.236) all cancers(79;3.96e-19) TGCCATTTCTTCTGTAACAGT 0.348 CYP21A2 1589 broad.mit.edu 37 6 32006249 32006249 + Missense_Mutation SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr6:32006249G>A uc003nze.1 + 1 168 c.50G>A c.(49-51)CGC>CAC p.R17H CYP21A2_uc003nzf.1_Missense_Mutation_p.R17H NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 16 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 GCTGGCGCCCGCCTGCTGTGG 0.542 COL12A1 1303 broad.mit.edu 37 6 75797410 75797410 + Missense_Mutation SNP G A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr6:75797410G>A uc003phs.2 - 65 9230 c.9064C>T c.(9064-9066)CCC>TCC p.P3022S COL12A1_uc003pht.2_Missense_Mutation_p.P1858S NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 3022 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGGCCAGGGGGACCTCTTGAA 0.522 MEST 4232 broad.mit.edu 37 7 130139717 130139717 + Silent SNP T A A TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr7:130139717T>A uc003vqg.2 + 7 754 c.537T>A c.(535-537)GGT>GGA p.G179G MEST_uc003vqc.2_Silent_p.G170G|MEST_uc003vqd.2_Silent_p.G170G|MEST_uc003vqf.2_Silent_p.G170G|MEST_uc011kph.1_Silent_p.G165G|MEST_uc010lmg.2_Silent_p.G179G NM_002402 NP_002393 Q5EB52 MEST_HUMAN mesoderm specific transcript isoform a 179 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding ovary(2) 2 Melanoma(18;0.0435) CTTCTACAGGTATCTTTCCTG 0.284 OR2F2 135948 broad.mit.edu 37 7 143632696 143632696 + Missense_Mutation SNP T G G TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr7:143632696T>G uc011ktv.1 + 1 371 c.371T>G c.(370-372)GTG>GGG p.V124G NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) GACCGCCATGTGGCTGTGTCT 0.562 FBXO32 114907 broad.mit.edu 37 8 124518764 124518764 + Silent SNP C T T TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr8:124518764C>T uc003yqr.2 - 7 894 c.702G>A c.(700-702)CTG>CTA p.L234L FBXO32_uc003yqq.2_Silent_p.L89L|FBXO32_uc010mdk.2_Silent_p.L141L NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 234 F-box. skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GCATGATGTTCAGTTGTAGGC 0.622 TEK 7010 broad.mit.edu 37 9 27206739 27206739 + Missense_Mutation SNP C T T rs147231791 by1000genomes TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr9:27206739C>T uc003zqi.3 + 15 2966 c.2524C>T c.(2524-2526)CGC>TGC p.R842C TEK_uc011lno.1_Missense_Mutation_p.R799C|TEK_uc011lnp.1_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 842 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTTAAGGCGCGCATCAAGAA 0.453 FLJ46321 389763 broad.mit.edu 37 9 84607173 84607173 + Silent SNP A G G TCGA-06-0130-01A-01D-1490-08 TCGA-06-0130-10A-01D-1490-08 Somatic Phase_I Capture Illumina GAIIx c09f0ebd-d604-49a3-9738-0c65fd47fbf9 86e74392-3823-43f8-b803-bf8757390521 g.chr9:84607173A>G uc004amn.2 + 4 1835 c.1788A>G c.(1786-1788)CTA>CTG p.L596L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 596 integral to membrane 0 CTAGTCCTCTATTCCTGATTA 0.512