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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut C16orf70 80262 broad.mit.edu 37 16 67173971 67173971 + Missense_Mutation SNP T T G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr16:67173971T>G uc002erc.3 + 9 830 c.746T>G c.(745-747)cTt>cGt p.L249R C16orf70_uc002erd.3_Missense_Mutation_p.L249R NM_025187 NP_079463 Q9BSU1 CP070_HUMAN Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA. 249 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) CAAGATGTTCTTAGCATGCTT 0.408000 4 81 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46407206 46407206 + Missense_Mutation SNP G G A TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr11:46407206G>A uc001nct.1 - 0 902 c.902C>T c.(901-903)gCc>gTc p.A301V NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 301 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GTTCTGGGTGGCACTGCCTGA 0.697000 3 44 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47890987 47890987 + Missense_Mutation SNP G G T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr3:47890987G>T uc003cru.3 + 19 3560 c.3134G>T c.(3133-3135)aGc>aTc p.S1045I DHX30_uc003crt.3_Missense_Mutation_p.S1006I|MIR1226_uc021wxj.1_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA. 1045 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|RNA binding|protein binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AAGCCCAACAGCGTCACATAT 0.592000 4 54 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25226092 25226092 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr8:25226092C>T uc003xeg.3 + 32 3426 c.3289C>T c.(3289-3291)Cac>Tac p.H1097Y DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.H811Y|DOCK5_uc003xei.3_Missense_Mutation_p.H667Y|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 1097 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTCAGGTCCCCACAAAATCAA 0.393000 14 41 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32207698 32207698 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr1:32207698C>T uc001btn.3 - 7 1727 c.1373G>A c.(1372-1374)gGt>gAt p.G458D BAI2_uc010ogo.2_Missense_Mutation_p.G100D|BAI2_uc010ogp.2_Missense_Mutation_p.G391D|BAI2_uc010ogq.2_Missense_Mutation_p.G458D|BAI2_uc001bto.3_Missense_Mutation_p.G458D|BAI2_uc001btq.1_Missense_Mutation_p.G391D|BAI2_uc010ogr.1_Missense_Mutation_p.G391D NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 458 TSP type-1 3. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGTGAGGGCACCCGTGCATGT 0.677000 4 38 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93172867 93172867 + Silent SNP C C A TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr14:93172867C>A uc001yav.3 - 12 1513 c.1152G>T c.(1150-1152)ctG>ctT p.L384L LGMN_uc001yat.3_Intron|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Silent_p.L384L NM_001008530 NP_005597 Q99538 LGMN_HUMAN Homo sapiens legumain (LGMN), transcript variant 2, mRNA. 384 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TCCGGAAGTGCAGCAGGGCCT 0.627000 3 55 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214355 67214355 + Silent SNP G G A TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr16:67214355G>A uc002ert.3 - 1 994 c.159C>T c.(157-159)gtC>gtT p.V53V KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Silent_p.V53V|EXOC3L1_uc002erv.1_Non-coding_Transcript NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN Homo sapiens KIAA0895-like (KIAA0895L), mRNA. 53 Pro-rich. breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GCGCTGGGGGGACTGCCAGAG 0.657000 8 14 0 0 1 0 0 EIF4A1 1973 broad.mit.edu 37 17 7481488 7481488 + Silent SNP A A G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr17:7481488A>G uc002gho.2 + 20 3565 c.1002A>G c.(1000-1002)agA>agG p.R334R EIF4A1_uc002ghr.1_Intron|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA. 334 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 CGTAGGCCAGAGGCATTGATG 0.507000 3 74 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484597 57484597 + Missense_Mutation SNP G G T rs137854533 TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr20:57484597G>T uc002xzw.3 + 8 2895 c.2610G>T c.(2608-2610)caG>caT p.Q870H GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.Q195H|GNAS_uc010gjq.3_Missense_Mutation_p.Q168H|GNAS_uc002xzx.3_Missense_Mutation_p.Q168H|GNAS_uc021wfn.1_Missense_Mutation_p.Q227H|GNAS_uc021wfo.1_Missense_Mutation_p.Q228H|GNAS_uc002yaa.3_Missense_Mutation_p.Q212H|GNAS_uc021wfp.1_Missense_Mutation_p.Q213H|GNAS_uc002yad.3_Missense_Mutation_p.Q118H|GNAS_uc002yae.3_Missense_Mutation_p.Q152H NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 227 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.Q227H(7) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGGGTGGCCAGCGCGATGAAC 0.512000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 13 35 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802700 96802700 + Missense_Mutation SNP C C T rs147133669 TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr10:96802700C>T uc001kkb.3 - 6 1191 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M CYP2C8_uc010qoa.2_Missense_Mutation_p.V296M|CYP2C8_uc010qoc.2_Missense_Mutation_p.V264M|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.V280M|CYP2C8_uc021pwl.1_Missense_Mutation_p.V296M|CYP2C8_uc010qod.1_Missense_Mutation_p.V280M NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 366 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCATGGGGCACACCGGTGGGG 0.488000 4 113 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7251632 7251632 + Missense_Mutation SNP A A G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr17:7251632A>G uc002ggd.2 + 16 1722 c.1516A>G c.(1516-1518)Aag>Gag p.K506E NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 506 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CAGGCAGGAGAAGGAGGCCTG 0.627000 7 23 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101564729 101564729 + Silent SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr2:101564729C>T uc010yvt.1 + 5 593 c.591C>T c.(589-591)ttC>ttT p.F197F NPAS2_uc002tap.1_Silent_p.F132F NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 132 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGTTAAATTTCCTCCCAGAAC 0.348000 32 47 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34826488 34826488 + Silent SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr5:34826488C>T uc003jis.3 + 17 3251 c.2712C>T c.(2710-2712)ctC>ctT p.L904L RAI14_uc003jir.3_Silent_p.L901L|RAI14_uc010iur.3_Silent_p.L872L|RAI14_uc011coj.2_Silent_p.L901L|RAI14_uc003jit.3_Silent_p.L901L|RAI14_uc011cok.2_Silent_p.L893L NM_001145525 NP_001138997 Q9P0K7 RAI14_HUMAN Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA. 901 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TGAACAGCCTCTCCCAGCTCT 0.498000 28 49 0 0 1 0 0 CRY1 1407 broad.mit.edu 37 12 107415951 107415951 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr12:107415951C>T uc001tmi.3 - 1 1037 c.178G>A c.(178-180)Gag>Aag p.E60K NM_004075 NP_004066 Q16526 CRY1_HUMAN Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA. 60 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 TCAAGATCCTCAAGACACTGA 0.313000 5 85 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156421217 156421217 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr3:156421217C>T uc003fav.3 + 4 1674 c.1252C>T c.(1252-1254)Ctt>Ttt p.L418F TIPARP_uc003faw.3_Missense_Mutation_p.L418F|TIPARP_uc021xgg.1_Missense_Mutation_p.L418F NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA. 418 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTTTAGGACACTTGGTGGGGT 0.383000 5 42 0 0 1 0 0