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 SPEN 23013 broad.mit.edu 37 1 16262301 16262301 + Missense_Mutation SNP A A G TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr1:16262301A>G ENST00000375759.3 + 11 9770 c.9566A>G c.(9565-9567)tAt>tGt p.Y3189C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3189 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTGCACCCCTATACTGTGCCA 0.607 11 87 --- --- --- --- MYOM3 127294 broad.mit.edu 37 1 24419567 24419567 + Silent SNP C C T TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr1:24419567C>T ENST00000330966.7 - 10 1125 c.963G>A c.(961-963)aaG>aaA p.K321K MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000329601.7_Silent_p.K320K Q5VTT5 MYOM3_HUMAN myomesin 3 320 Ig-like C2-type 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGTAGAGGATCTTCCGACGTC 0.627 7 38 --- --- --- --- HHAT 55733 broad.mit.edu 37 1 210577986 210577986 + Missense_Mutation SNP A A C TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr1:210577986A>C ENST00000367010.1 + 6 874 c.647A>C c.(646-648)aAt>aCt p.N216T HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000541565.1_Intron NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 216 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GTCTTACACAATGGGCCCATC 0.532 11 89 --- --- --- --- RYBP 23429 broad.mit.edu 37 3 72495650 72495650 + Silent SNP G G A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr3:72495650G>A ENST00000477973.2 - 1 419 c.420C>T c.(418-420)caC>caT p.H140H NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CAAGTACCTGGTGGAGGTGCC 0.438 4 32 --- --- --- --- PROS1 5627 broad.mit.edu 37 3 93646107 93646107 + Missense_Mutation SNP T T A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr3:93646107T>A ENST00000394236.3 - 2 537 c.221A>T c.(220-222)aAt>aTt p.N74I PROS1_ENST00000407433.1_5'UTR NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 74 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTCCGGGTCATTTTCAAAGAC 0.403 13 115 --- --- --- --- TIGD5 84948 broad.mit.edu 37 8 144681434 144681434 + Missense_Mutation SNP T T C TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr8:144681434T>C ENST00000321385.3 + 1 1361 c.1214T>C c.(1213-1215)cTc>cCc p.L405P TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 454 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGCTTCATGCTCAAGGACATG 0.667 6 25 --- --- --- --- HPS5 11234 broad.mit.edu 37 11 18313152 18313152 + Silent SNP T T C TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr11:18313152T>C ENST00000396253.3 - 15 2397 c.1935A>G c.(1933-1935)ggA>ggG p.G645G HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 759 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGTCCACATGTCCACTGGTGC 0.433 Hermansky-Pudlak syndrome 11 123 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558126 56558126 + Missense_Mutation SNP C C G TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr12:56558126C>G ENST00000394023.3 - 29 3448 c.3343G>C c.(3343-3345)Gtt>Ctt p.V1115L SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1079 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTGCCCTGAACAGCTGCCACA 0.662 7 108 --- --- --- --- PTPN9 5780 broad.mit.edu 37 15 75801287 75801287 + Missense_Mutation SNP G G C TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr15:75801287G>C ENST00000306726.2 - 6 1122 c.610C>G c.(610-612)Ctc>Gtc p.L204V NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 204 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTCAGGAGGAGACTGATGATG 0.473 6 42 --- --- --- --- MKL2 57496 broad.mit.edu 37 16 14304154 14304154 + Missense_Mutation SNP G G A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr16:14304154G>A ENST00000571589.1 + 4 381 c.209G>A c.(208-210)gGc>gAc p.G70D MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 59 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTGGACCAGGGCATCATGCCA 0.493 9 81 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49097614 49097614 + Missense_Mutation SNP C C A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr17:49097614C>A ENST00000262013.7 - 8 1205 c.997G>T c.(997-999)Gct>Tct p.A333S SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 333 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TCATTTTCAGCAGAGCCTTAA 0.338 3 28 --- --- --- --- SMCHD1 23347 broad.mit.edu 37 18 2760731 2760731 + Missense_Mutation SNP T T G TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr18:2760731T>G ENST00000320876.6 + 35 4766 c.4428T>G c.(4426-4428)agT>agG p.S1476R RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1476 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TTCTCAACAGTGAACAGGTTT 0.294 3 46 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38934381 38934381 + Silent SNP C C T TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr19:38934381C>T ENST00000355481.4 + 5 500 c.369C>T c.(367-369)tcC>tcT p.S123S RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000359596.3_Silent_p.S123S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 123 MIR 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCACCACCTCCCGCTCCATGA 0.647 9 93 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832183 39832183 + Silent SNP G G A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr20:39832183G>A ENST00000309060.3 - 4 1789 c.1374C>T c.(1372-1374)ccC>ccT p.P458P ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 458 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CAGTGTTAATGGGTGCCACAC 0.572 10 57 --- --- --- --- IL1RAPL2 26280 broad.mit.edu 37 X 104728369 104728369 + Missense_Mutation SNP T T A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chrX:104728369T>A ENST00000372582.1 + 6 1518 c.762T>A c.(760-762)gaT>gaA p.D254E IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 254 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTGTTATAGATGTCCAGCTGG 0.423 16 51 --- --- --- --- NAA25 80018 broad.mit.edu 37 12 112486111 112486113 + In_Frame_Del DEL AGA AGA - TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c 9db864a0-450d-4ef4-83ff-1a869ab80803 g.chr12:112486111_112486113delAGA ENST00000261745.4 - 16 2111_2113 c.1863_1865delTCT c.(1861-1866)cttcta>cta p.621_622LL>L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 621 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TGCTTCAAGTAGAAGGTCTAACA 0.399 8 65 --- --- --- ---